#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
CHD5	26038	broad.mit.edu	37	1	6171855	6171855	+	Nonsense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:6171855C>T	ENST00000262450.3	-	36	5328	c.5229G>A	c.(5227-5229)tgG>tgA	p.W1743*	CHD5_ENST00000378021.1_Nonsense_Mutation_p.W600*	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCGCCAGCAGCCAGTAGTCAT	0.637																																						uc001amb.1																			0				central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(5227-5229)TGG>TGA		chromodomain helicase DNA binding protein 5							49.0	53.0	52.0					1																	6171855		2203	4300	6503	SO:0001587	stop_gained	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6171855C>T	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.5229G>A	1.37:g.6171855C>T	ENSP00000262450:p.Trp1743*					CHD5_uc001alz.1_Nonsense_Mutation_p.W600*|CHD5_uc001ama.1_RNA	p.W1743*	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	36	5329	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	1743					A8KAP8|A8MQ44|D3DSH9|O60740	Nonsense_Mutation	SNP	ENST00000262450.3	37	c.5229G>A	CCDS57.1	.	.	.	.	.	.	.	.	.	.	c	58	33.077376	0.99980	.	.	ENSG00000116254	ENST00000262450;ENST00000378021;ENST00000377999	.	.	.	4.92	4.92	0.64577	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-20.3188	18.4814	0.90812	0.0:1.0:0.0:0.0	.	.	.	.	X	1743;600;600	.	ENSP00000262450:W1743X	W	-	3	0	CHD5	6094442	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.705000	0.84606	2.434000	0.82447	0.561000	0.74099	TGG		0.637	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557	
CDA	978	broad.mit.edu	37	1	20944973	20944973	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:20944973C>T	ENST00000375071.3	+	4	535	c.353C>T	c.(352-354)aCc>aTc	p.T118I	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	118					cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GTGTACATGACCAAGCCGGAT	0.582																																					Pancreas(74;49 1356 2772 27818 40529)	uc001bdk.2																			0				ovary(1)	1						c.(352-354)ACC>ATC		cytidine deaminase	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)						91.0	73.0	79.0					1																	20944973		2203	4300	6503	SO:0001583	missense	978				cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding	g.chr1:20944973C>T	BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.353C>T	1.37:g.20944973C>T	ENSP00000364212:p.Thr118Ile					CDA_uc001bdl.2_RNA|CDA_uc009vpv.2_RNA	p.T118I	NM_001785	NP_001776	P32320	CDD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	4	532	+		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	118						Missense_Mutation	SNP	ENST00000375071.3	37	c.353C>T	CCDS210.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.405199	0.83230	.	.	ENSG00000158825	ENST00000375071	T	0.44083	0.93	5.72	5.72	0.89469	Cytidine deaminase-like (1);	0.167697	0.53938	D	0.000053	T	0.56529	0.1991	L	0.48935	1.535	0.51012	D	0.999903	D	0.58970	0.984	D	0.65323	0.934	T	0.55798	-0.8084	10	0.62326	D	0.03	.	15.3701	0.74557	0.0:1.0:0.0:0.0	.	118	P32320	CDD_HUMAN	I	118	ENSP00000364212:T118I	ENSP00000364212:T118I	T	+	2	0	CDA	20817560	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	5.234000	0.65343	2.703000	0.92315	0.491000	0.48974	ACC		0.582	CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1	NM_001785	
HNRNPR	10236	broad.mit.edu	37	1	23660032	23660032	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:23660032C>T	ENST00000374612.1	-	5	600	c.477G>A	c.(475-477)gtG>gtA	p.V159V	HNRNPR_ENST00000426846.2_Silent_p.V58V|HNRNPR_ENST00000302271.6_Silent_p.V159V|HNRNPR_ENST00000374616.3_Silent_p.V159V|HNRNPR_ENST00000427764.2_Intron|HNRNPR_ENST00000606561.1_Intron|HNRNPR_ENST00000478691.1_Silent_p.V58V	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	159					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTCCAGGTTGCACGCCAGAGT	0.453																																						uc001bgr.3																			0				upper_aerodigestive_tract(1)|skin(1)	2						c.(475-477)GTG>GTA		heterogeneous nuclear ribonucleoprotein R							111.0	97.0	102.0					1																	23660032		2203	4300	6503	SO:0001819	synonymous_variant	10236					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr1:23660032C>T	AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224	ENST00000374612.1:c.477G>A	1.37:g.23660032C>T						HNRNPR_uc001bgp.3_Silent_p.V159V|HNRNPR_uc009vqk.2_Silent_p.V58V|HNRNPR_uc001bgs.3_Silent_p.V58V|HNRNPR_uc010odw.1_Intron|HNRNPR_uc010odx.1_Silent_p.V58V|HNRNPR_uc009vql.2_Intron	p.V159V	NM_005826	NP_005817	O43390	HNRPR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)	5	636	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	159					Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	Silent	SNP	ENST00000374612.1	37	c.477G>A	CCDS232.1																																																																																				0.453	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008889.1	NM_005826	
TXNIP	10628	broad.mit.edu	37	1	145439907	145439907	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:145439907C>T	ENST00000369317.4	+	3	787	c.453C>T	c.(451-453)gtC>gtT	p.V151V	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	151					cell cycle (GO:0007049)|cellular response to tumor cell (GO:0071228)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|negative regulation of cell division (GO:0051782)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|protein import into nucleus (GO:0006606)|regulation of cell proliferation (GO:0042127)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGTGGATGTCAATACCCCTG	0.433																																						uc001enn.3																			0				ovary(2)	2						c.(451-453)GTC>GTT		thioredoxin interacting protein							88.0	92.0	91.0					1																	145439907		2203	4300	6503	SO:0001819	synonymous_variant	10628				cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	g.chr1:145439907C>T	S73591	CCDS72876.1	1q11	2008-07-18			ENSG00000117289	ENSG00000265972			16952	protein-coding gene	gene with protein product	"""upregulated by 1,25-dihydroxyvitamin D-3"", ""thioredoxin binding protein 2"""	606599				8086474	Standard	NM_006472		Approved	VDUP1, EST01027, HHCPA78, THIF	uc001enn.4	Q9H3M7	OTTHUMG00000013755	ENST00000369317.4:c.453C>T	1.37:g.145439907C>T						NBPF10_uc001emp.3_Intron|TXNIP_uc001enm.1_Intron|TXNIP_uc010oys.1_Silent_p.V96V	p.V151V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN			3	794	+	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		151					B4E3D3|Q16226|Q6PML0|Q9BXG9	Silent	SNP	ENST00000369317.4	37	c.453C>T	CCDS913.1																																																																																				0.433	TXNIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038547.1	NM_006472	
RXFP4	339403	broad.mit.edu	37	1	155911855	155911855	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:155911855A>C	ENST00000368318.3	+	1	376	c.355A>C	c.(355-357)Acg>Ccg	p.T119P		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	119						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GATGGTTCTGACGGCCACTGT	0.632																																						uc010pgs.1																			0					0						c.(355-357)ACG>CCG		relaxin 3 receptor 2							84.0	72.0	76.0					1																	155911855		2203	4300	6503	SO:0001583	missense	339403					integral to membrane|plasma membrane	angiotensin type II receptor activity	g.chr1:155911855A>C	AB065617	CCDS1124.1	1q22	2012-08-08	2006-05-09	2006-03-15	ENSG00000173080	ENSG00000173080		"""GPCR / Class A : Relaxin family peptide receptors"""	14666	protein-coding gene	gene with protein product		609043	"""G protein-coupled receptor 100"", ""relaxin 3 receptor 2"", ""relaxin family peptide receptor 4"""	GPR100, RLN3R2		15956688, 16507880	Standard	NM_181885		Approved	GPCR142, RXFPR4	uc010pgs.2	Q8TDU9	OTTHUMG00000017463	ENST00000368318.3:c.355A>C	1.37:g.155911855A>C	ENSP00000357301:p.Thr119Pro						p.T119P	NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN			1	376	+	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		119			Helical; Name=3; (Potential).		B0M0L4|Q3MJB1|Q8NGZ8	Missense_Mutation	SNP	ENST00000368318.3	37	c.355A>C	CCDS1124.1	.	.	.	.	.	.	.	.	.	.	A	16.96	3.266234	0.59540	.	.	ENSG00000173080	ENST00000368318	T	0.37915	1.17	4.54	4.54	0.55810	GPCR, rhodopsin-like superfamily (1);	0.250737	0.32473	N	0.006046	T	0.50360	0.1611	M	0.81239	2.535	0.35046	D	0.760173	D	0.76494	0.999	D	0.72982	0.979	T	0.60276	-0.7295	10	0.62326	D	0.03	-13.1521	11.8884	0.52615	1.0:0.0:0.0:0.0	.	119	Q8TDU9	RL3R2_HUMAN	P	119	ENSP00000357301:T119P	ENSP00000357301:T119P	T	+	1	0	RXFP4	154178479	0.004000	0.15560	0.551000	0.28230	0.990000	0.78478	1.448000	0.35112	1.906000	0.55180	0.379000	0.24179	ACG		0.632	RXFP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046203.1	NM_181885	
NME7	29922	broad.mit.edu	37	1	169256604	169256604	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:169256604C>T	ENST00000367811.3	-	7	947	c.691G>A	c.(691-693)Gca>Aca	p.A231T	NME7_ENST00000472647.1_Missense_Mutation_p.A195T|NME7_ENST00000469474.1_5'UTR	NM_013330.3	NP_037462.1	Q9Y5B8	NDK7_HUMAN	NME/NM23 family member 7	231					brain development (GO:0007420)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|CTP biosynthetic process (GO:0006241)|determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|UTP biosynthetic process (GO:0006228)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|nucleoside diphosphate kinase activity (GO:0004550)	p.A231T(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GCAGTGTTTGCCGGCCCACAA	0.358																																						uc001gfu.2																			1	Substitution - Missense(1)		kidney(1)	central_nervous_system(1)	1						c.(691-693)GCA>ACA		nucleoside diphosphate kinase 7 isoform a							220.0	216.0	217.0					1																	169256604		2203	4300	6503	SO:0001583	missense	29922				CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	g.chr1:169256604C>T	AF153191	CCDS1277.1, CCDS44274.1	1q24.2	2014-07-31	2012-05-18		ENSG00000143156	ENSG00000143156			20461	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 67"""	613465	"""non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase)"""			19852809	Standard	NM_197972		Approved	FLJ37194, NM23-H7, CFAP67	uc001gfu.3	Q9Y5B8	OTTHUMG00000034586	ENST00000367811.3:c.691G>A	1.37:g.169256604C>T	ENSP00000356785:p.Ala231Thr					NME7_uc010plq.1_RNA|NME7_uc001gft.2_Missense_Mutation_p.A195T|NME7_uc001gfv.1_Missense_Mutation_p.A231T	p.A231T	NM_013330	NP_037462	Q9Y5B8	NDK7_HUMAN			7	929	-	all_hematologic(923;0.208)		231					A8K3T6|A8MY09|B3KSW9|Q5TGZ4	Missense_Mutation	SNP	ENST00000367811.3	37	c.691G>A	CCDS1277.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.961854	0.34659	.	.	ENSG00000143156	ENST00000472647;ENST00000367811	T;T	0.55413	0.52;0.52	4.57	3.65	0.41850	.	0.526155	0.22030	N	0.065617	T	0.15565	0.0375	L	0.27053	0.805	0.29275	N	0.870411	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.001	T	0.09378	-1.0677	9	0.14252	T	0.57	-11.2605	7.7247	0.28753	0.0:0.8061:0.0:0.1939	.	235;231	Q59GR0;Q9Y5B8	.;NDK7_HUMAN	T	195;231	ENSP00000433341:A195T;ENSP00000356785:A231T	ENSP00000356785:A231T	A	-	1	0	NME7	167523228	0.999000	0.42202	0.998000	0.56505	0.981000	0.71138	1.468000	0.35332	0.914000	0.36822	0.637000	0.83480	GCA		0.358	NME7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083688.1	NM_013330	
IGFN1	91156	broad.mit.edu	37	1	201182608	201182608	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:201182608C>T	ENST00000335211.4	+	12	8717	c.8587C>T	c.(8587-8589)Cgg>Tgg	p.R2863W	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_Missense_Mutation_p.R23W	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	406						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGATCAGAGCCGGGAGCCCCC	0.582																																						uc001gwc.2																			0				ovary(2)|pancreas(1)	3						c.(67-69)CGG>TGG		RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1;							62.0	57.0	59.0					1																	201182608		2203	4300	6503	SO:0001583	missense	91156							g.chr1:201182608C>T	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.8587C>T	1.37:g.201182608C>T	ENSP00000334714:p.Arg2863Trp					IGFN1_uc001gwb.2_Intron	p.R23W	NM_178275	NP_840059					1	839	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.67C>T	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.02|13.02	2.110920|2.110920	0.37242|0.37242	.|.	.|.	ENSG00000163395|ENSG00000163395	ENST00000412892|ENST00000335211;ENST00000295591	.|T;T	.|0.58940	.|0.3;0.63	2.88|2.88	0.608|0.608	0.17569|0.17569	.|.	.|1.029950	.|0.07903	.|U	.|0.973045	T|T	0.34193|0.34193	0.0889|0.0889	N|N	0.22421|0.22421	0.69|0.69	0.09310|0.09310	N|N	1|1	.|B	.|0.33494	.|0.414	.|B	.|0.17433	.|0.018	T|T	0.23332|0.23332	-1.0191|-1.0191	5|10	.|0.48119	.|T	.|0.1	.|.	2.6671|2.6671	0.05056|0.05056	0.3266:0.3894:0.0:0.284|0.3266:0.3894:0.0:0.284	.|.	.|2863	.|F8WAI1	.|.	L|W	280|2863;23	.|ENSP00000334714:R2863W;ENSP00000295591:R23W	.|ENSP00000295591:R23W	P|R	+|+	2|1	0|2	IGFN1|IGFN1	199449231|199449231	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.005000|0.005000	0.04900|0.04900	-0.941000|-0.941000	0.03925|0.03925	0.415000|0.415000	0.25817|0.25817	-0.424000|-0.424000	0.05967|0.05967	CCG|CGG		0.582	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275	
KDM5B	10765	broad.mit.edu	37	1	202722182	202722182	+	Frame_Shift_Del	DEL	T	T	-	rs534732205		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:202722182delT	ENST00000367265.3	-	12	2716	c.1552delA	c.(1552-1554)accfs	p.T518fs	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Frame_Shift_Del_p.T554fs	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	518	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCATACCAGGTTTTTGGCTCA	0.423																																						uc001gyf.2																			0				ovary(2)|breast(2)|urinary_tract(1)	5						c.(1552-1554)ACCfs		jumonji, AT rich interactive domain 1B							65.0	71.0	69.0					1																	202722182		2203	4300	6503	SO:0001589	frameshift_variant	10765				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr1:202722182delT	AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.1552delA	1.37:g.202722182delT	ENSP00000356234:p.Thr518fs					KDM5B_uc009xag.2_Frame_Shift_Del_p.T554fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.T360fs	p.T518fs	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN			12	1668	-			518			JmjC.		O95811|Q15752|Q9Y3Q5	Frame_Shift_Del	DEL	ENST00000367265.3	37	c.1552delA	CCDS30974.1																																																																																				0.423	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0					0						c.(523-525)AAT>AGT		SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							5	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
GPRIN2	9721	broad.mit.edu	37	10	46999948	46999948	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:46999948G>A	ENST00000374317.1	+	3	1341	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	GPRIN2_ENST00000374314.4_Silent_p.A356A	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	356										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCCTGGAAGCGCCTGCAGCCC	0.677																																						uc001jec.2																			0					0						c.(1066-1068)GCG>GCA		G protein-regulated inducer of neurite outgrowth							90.0	85.0	87.0					10																	46999948		2203	4300	6503	SO:0001819	synonymous_variant	9721							g.chr10:46999948G>A	BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.1068G>A	10.37:g.46999948G>A						GPRIN2_uc010qfq.1_Silent_p.A119A	p.A356A	NM_014696	NP_055511	O60269	GRIN2_HUMAN			3	1203	+			356					Q5SVF0	Silent	SNP	ENST00000374317.1	37	c.1068G>A	CCDS31192.1																																																																																				0.677	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047836.1	NM_014696	
TYSND1	219743	broad.mit.edu	37	10	71905229	71905229	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:71905229G>A	ENST00000287078.6	-	1	1113	c.1114C>T	c.(1114-1116)Cac>Tac	p.H372Y	TYSND1_ENST00000335494.5_Missense_Mutation_p.H372Y|TYSND1_ENST00000494143.1_5'Flank	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	372	Serine protease.				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						GGGGACACGTGCCGACAGGTC	0.677																																						uc001jqr.2																			0				large_intestine(1)	1						c.(1114-1116)CAC>TAC		trypsin domain containing 1 isoform a							13.0	15.0	14.0					10																	71905229		2193	4287	6480	SO:0001583	missense	219743				proteolysis	peroxisome	serine-type endopeptidase activity	g.chr10:71905229G>A	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.1114C>T	10.37:g.71905229G>A	ENSP00000287078:p.His372Tyr					TYSND1_uc001jqq.2_Intron|TYSND1_uc001jqs.2_Missense_Mutation_p.H372Y|TYSND1_uc001jqt.2_Intron	p.H372Y	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN			1	1268	-			372			Serine protease.	Charge relay system (By similarity).	Q5SQT4|Q5SQU1|Q8N6H2|Q96AR5	Missense_Mutation	SNP	ENST00000287078.6	37	c.1114C>T	CCDS31213.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.625215	0.87560	.	.	ENSG00000156521	ENST00000287078;ENST00000335494	D;T	0.94417	-3.42;0.84	4.6	4.6	0.57074	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (2);	0.059907	0.64402	D	0.000003	D	0.98055	0.9359	H	0.95043	3.615	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99113	1.0847	10	0.66056	D	0.02	-10.9934	16.1563	0.81670	0.0:0.0:1.0:0.0	.	372;372	Q2T9J0-2;Q2T9J0	.;TYSD1_HUMAN	Y	372	ENSP00000287078:H372Y;ENSP00000335673:H372Y	ENSP00000287078:H372Y	H	-	1	0	TYSND1	71575235	1.000000	0.71417	0.988000	0.46212	0.881000	0.50899	8.767000	0.91732	2.371000	0.80710	0.655000	0.94253	CAC		0.677	TYSND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048483.1	NM_173555	
PTEN	5728	broad.mit.edu	37	10	89720805	89720806	+	Frame_Shift_Ins	INS	-	-	T	rs398123330		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:89720805_89720806insT	ENST00000371953.3	+	8	2313_2314	c.956_957insT	c.(955-960)actttafs	p.L320fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	320	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.T319fs*1(24)|p.L318fs*2(15)|p.T319fs*6(6)|p.R55fs*1(5)|p.T319fs*24(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.T319fs*5(1)|p.W274_F341del(1)|p.V317_K322del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGTACTTACTTTAACAAAAA	0.332		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		106	Deletion - Frameshift(54)|Whole gene deletion(37)|Insertion - Frameshift(7)|Deletion - In frame(6)|Unknown(2)	p.T319fs*1(22)|p.L318fs*2(11)|p.T319fs*6(6)|p.R55fs*1(4)|p.T319fs*24(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.T319fs*5(1)|p.W274_F341del(1)|p.V317_K322del(1)	central_nervous_system(28)|endometrium(27)|prostate(17)|skin(8)|breast(5)|ovary(5)|lung(4)|large_intestine(3)|haematopoietic_and_lymphoid_tissue(3)|soft_tissue(2)|urinary_tract(2)|liver(2)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334						c.(955-957)ACTfs		phosphatase and tensin homolog																																				SO:0001589	frameshift_variant	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89720805_89720806insT	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.959dupT	10.37:g.89720808_89720808dupT	ENSP00000361021:p.Leu320fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.T319fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	9	1987_1988	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	319		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).	C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Ins	INS	ENST00000371953.3	37	c.956_957insT	CCDS31238.1																																																																																				0.332	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
TAF5	6877	broad.mit.edu	37	10	105145152	105145152	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:105145152G>A	ENST00000369839.3	+	8	1757	c.1734G>A	c.(1732-1734)ttG>ttA	p.L578L	TAF5_ENST00000351396.4_Intron	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	578					chromatin modification (GO:0016568)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	protein dimerization activity (GO:0046983)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TTACTTGTTTGGTGGGATATA	0.423																																						uc001kwv.2																			0				ovary(2)	2						c.(1732-1734)TTG>TTA		TBP-associated factor 5							111.0	97.0	102.0					10																	105145152		2203	4300	6503	SO:0001819	synonymous_variant	6877				histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr10:105145152G>A	X95525	CCDS7547.1	10q24-q25.2	2013-01-10	2002-08-29	2001-12-07	ENSG00000148835	ENSG00000148835		"""WD repeat domain containing"""	11539	protein-coding gene	gene with protein product		601787	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, D, 100kD"""	TAF2D		8884287, 8942982	Standard	NM_006951		Approved	TAFII100	uc001kwv.3	Q15542	OTTHUMG00000018985	ENST00000369839.3:c.1734G>A	10.37:g.105145152G>A						TAF5_uc010qqq.1_Intron	p.L578L	NM_006951	NP_008882	Q15542	TAF5_HUMAN		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)	8	1757	+		Colorectal(252;0.0747)|Breast(234;0.128)	578			WD 2.		A8K5B4|B2RMR0|B7ZKJ6|Q53EM4|Q5SYD5|Q86UZ7|Q9Y4K5	Silent	SNP	ENST00000369839.3	37	c.1734G>A	CCDS7547.1																																																																																				0.423	TAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050144.1		
TCF7L2	6934	broad.mit.edu	37	10	114711317	114711317	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:114711317T>C	ENST00000355995.4	+	3	839	c.332T>C	c.(331-333)cTg>cCg	p.L111P	TCF7L2_ENST00000369395.1_Missense_Mutation_p.L111P|TCF7L2_ENST00000352065.5_Missense_Mutation_p.L111P|TCF7L2_ENST00000538897.1_Missense_Mutation_p.L111P|TCF7L2_ENST00000355717.4_Missense_Mutation_p.L111P|TCF7L2_ENST00000369397.4_Missense_Mutation_p.L111P|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000545257.1_Missense_Mutation_p.L111P|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000543371.1_Missense_Mutation_p.L111P|TCF7L2_ENST00000536810.1_Missense_Mutation_p.L111P|TCF7L2_ENST00000534894.1_Missense_Mutation_p.L111P|TCF7L2_ENST00000349937.2_Missense_Mutation_p.L111P			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	111					blood vessel development (GO:0001568)|bone mineralization (GO:0030282)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|catenin import into nucleus (GO:0035411)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cellular response to starvation (GO:0009267)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic hindgut morphogenesis (GO:0048619)|face morphogenesis (GO:0060325)|fat cell differentiation (GO:0045444)|generation of neurons (GO:0048699)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycogen metabolic process (GO:0005977)|insulin metabolic process (GO:1901142)|maintenance of DNA repeat elements (GO:0043570)|multicellular organism growth (GO:0035264)|myoblast fate commitment (GO:0048625)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of organ growth (GO:0046621)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neural tube development (GO:0021915)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte development (GO:0014003)|pancreas development (GO:0031016)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of insulin secretion (GO:0032024)|positive regulation of protein binding (GO:0032092)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|post-embryonic development (GO:0009791)|regulation of hormone metabolic process (GO:0032350)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of myelination (GO:0031641)|regulation of oligodendrocyte differentiation (GO:0048713)|regulation of skeletal muscle tissue development (GO:0048641)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|secretory granule localization (GO:0032252)|skin development (GO:0043588)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	beta-catenin-TCF7L2 complex (GO:0070369)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|gamma-catenin binding (GO:0045295)|nuclear hormone receptor binding (GO:0035257)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ATCCCCGACCTGACGAGCCCC	0.716			T	VTI1A	colorectal																																	uc001lae.3				Dom	yes		10	10q25.3	6934		transcription factor 7-like 2			E					0				large_intestine(3)|ovary(1)	4						c.(331-333)CTG>CCG		transcription factor 7-like 2 isoform 1							24.0	25.0	25.0					10																	114711317		2202	4300	6502	SO:0001583	missense	6934				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding	g.chr10:114711317T>C	X62871	CCDS7576.1, CCDS53578.1, CCDS55729.1, CCDS73196.1, CCDS73197.1, CCDS73198.1	10q25.3	2006-11-24			ENSG00000148737	ENSG00000148737			11641	protein-coding gene	gene with protein product		602228		TCF4		1741298	Standard	NM_001146283		Approved	TCF-4	uc001lae.4	Q9NQB0	OTTHUMG00000019070	ENST00000355995.4:c.332T>C	10.37:g.114711317T>C	ENSP00000348274:p.Leu111Pro					TCF7L2_uc001lac.3_Missense_Mutation_p.L111P|TCF7L2_uc010qrk.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrl.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrm.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrn.1_Missense_Mutation_p.L111P|TCF7L2_uc001lad.3_Missense_Mutation_p.L111P|TCF7L2_uc001lag.3_Missense_Mutation_p.L111P|TCF7L2_uc001laf.3_Missense_Mutation_p.L111P|TCF7L2_uc010qro.1_Missense_Mutation_p.L111P|TCF7L2_uc001lah.2_Missense_Mutation_p.L111P|TCF7L2_uc010qrp.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrq.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrr.1_Missense_Mutation_p.L5P|TCF7L2_uc010qrs.1_Missense_Mutation_p.L5P|TCF7L2_uc010qrt.1_Missense_Mutation_p.L5P	p.L111P	NM_001146274	NP_001139746	Q9NQB0	TF7L2_HUMAN		Epithelial(162;0.00554)|all cancers(201;0.02)	3	839	+		Breast(234;0.058)|Colorectal(252;0.0615)	111					B4DRJ8|B9X074|C6ZRJ8|C6ZRK0|E2GH14|E2GH19|E2GH20|E2GH24|E2GH25|E9PFH9|F8W742|F8W7T5|O00185|Q9NQB1|Q9NQB2|Q9NQB3|Q9NQB4|Q9NQB5|Q9NQB6|Q9NQB7|Q9ULC2	Missense_Mutation	SNP	ENST00000355995.4	37	c.332T>C		.	.	.	.	.	.	.	.	.	.	t	13.77	2.336411	0.41398	.	.	ENSG00000148737	ENST00000355995;ENST00000545257;ENST00000543371;ENST00000536810;ENST00000355717;ENST00000538897;ENST00000534894;ENST00000369397;ENST00000349937;ENST00000352065;ENST00000369395;ENST00000346198	D;D;D;D;D;D;D;D;D	0.99394	-5.2;-5.21;-5.21;-5.24;-5.82;-5.82;-5.79;-5.22;-5.76	2.49	2.49	0.30216	CTNNB1 binding, N-teminal (1);	0.000000	0.39759	U	0.001263	D	0.99061	0.9678	M	0.67953	2.075	0.80722	D	1	D;D;D;P;P;D;D;D;D;B;D;D;P;P;D;P	0.89917	0.977;0.995;1.0;0.93;0.93;0.987;0.999;0.979;0.977;0.014;0.971;0.996;0.949;0.942;0.971;0.95	D;D;D;P;P;P;D;P;P;B;P;D;P;D;P;D	0.81914	0.936;0.968;0.995;0.826;0.837;0.905;0.981;0.864;0.905;0.12;0.739;0.956;0.794;0.921;0.847;0.925	D	0.99160	1.0861	10	0.87932	D	0	.	10.8136	0.46562	0.0:0.0:0.0:1.0	.	111;5;5;111;111;111;111;111;111;111;111;111;111;111;111;111	Q9NQB0;C6ZRK4;C6ZRJ6;C6ZRJ9;F8W742;B4DRJ8;C6ZRK2;B9X074;C6ZRJ8;C6ZRK1;C6ZRJ7;F8W7T5;C6ZRK5;Q9NQB0-7;Q9NQB0-10;Q6FHW4	TF7L2_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	P	111;111;111;111;111;111;111;111;111;111;111;58	ENSP00000348274:L111P;ENSP00000440547:L111P;ENSP00000444972:L111P;ENSP00000446238:L111P;ENSP00000347949:L111P;ENSP00000446172:L111P;ENSP00000443626:L111P;ENSP00000358404:L111P;ENSP00000344823:L111P	ENSP00000345640:L58P	L	+	2	0	TCF7L2	114701307	1.000000	0.71417	1.000000	0.80357	0.000000	0.00434	6.380000	0.73158	0.970000	0.38263	0.000000	0.15137	CTG		0.716	TCF7L2-203	KNOWN	basic	protein_coding	protein_coding		NM_030756	
CD6	923	broad.mit.edu	37	11	60785322	60785322	+	Silent	SNP	G	G	C	rs137857404		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:60785322G>C	ENST00000313421.7	+	11	1860	c.1674G>C	c.(1672-1674)ccG>ccC	p.P558P	CD6_ENST00000352009.5_Silent_p.P526P|CD6_ENST00000452451.2_Silent_p.P517P|CD6_ENST00000346437.4_Silent_p.P485P|CD6_ENST00000344028.5_Silent_p.P526P	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	558					cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGTATCACCCGAGGAGCAACA	0.552																																					Pancreas(169;904 2017 4767 38890 42505)	uc001nqq.2																			0				pancreas(1)	1						c.(1672-1674)CCG>CCC		CD6 molecule precursor							81.0	81.0	81.0					11																	60785322		2203	4299	6502	SO:0001819	synonymous_variant	923				cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	g.chr11:60785322G>C		CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.1674G>C	11.37:g.60785322G>C						CD6_uc001nqp.2_Silent_p.P558P|CD6_uc001nqr.2_Silent_p.P526P|CD6_uc001nqs.2_RNA|CD6_uc001nqt.2_Silent_p.P517P	p.P558P	NM_006725	NP_006716	P30203	CD6_HUMAN			11	1897	+			558			Cytoplasmic (Potential).		A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Silent	SNP	ENST00000313421.7	37	c.1674G>C	CCDS7999.1																																																																																				0.552	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396449.1	NM_006725	
ARHGEF17	9828	broad.mit.edu	37	11	73076830	73076830	+	Missense_Mutation	SNP	A	A	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:73076830A>T	ENST00000263674.3	+	20	6183	c.5833A>T	c.(5833-5835)Acc>Tcc	p.T1945S		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1945					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGTCGTCCTCACCATGCCCAC	0.657																																						uc001otu.2																			0					0						c.(5833-5835)ACC>TCC		Rho guanine nucleotide exchange factor (GEF) 17							69.0	64.0	65.0					11																	73076830		2200	4293	6493	SO:0001583	missense	9828				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity	g.chr11:73076830A>T	AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.5833A>T	11.37:g.73076830A>T	ENSP00000263674:p.Thr1945Ser						p.T1945S	NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN			20	5854	+			1945					B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	c.5833A>T	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	A	16.05	3.011952	0.54468	.	.	ENSG00000110237	ENST00000263674	T	0.35421	1.31	5.28	4.13	0.48395	WD40 repeat-like-containing domain (1);	0.102505	0.64402	N	0.000003	T	0.33323	0.0859	M	0.64170	1.965	0.47698	D	0.999498	B	0.28350	0.208	B	0.23716	0.048	T	0.08452	-1.0721	10	0.30854	T	0.27	-24.8968	10.8873	0.46974	0.8592:0.0:0.0:0.1408	.	1945	Q96PE2	ARHGH_HUMAN	S	1945	ENSP00000263674:T1945S	ENSP00000263674:T1945S	T	+	1	0	ARHGEF17	72754478	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	5.984000	0.70548	0.998000	0.38996	0.533000	0.62120	ACC		0.657	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1	NM_014786	
KDM4D	55693	broad.mit.edu	37	11	94731887	94731887	+	Missense_Mutation	SNP	C	C	T	rs372591204		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:94731887C>T	ENST00000335080.5	+	3	2183	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	KDM4D_ENST00000536741.1_Missense_Mutation_p.R451C	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	451					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AAATGGCAGACGTGGTCGTGG	0.602																																						uc001pfe.2																			0					0						c.(1351-1353)CGT>TGT		jumonji domain containing 2D		C	CYS/ARG	1,4401	2.1+/-5.4	0,1,2200	64.0	65.0	65.0		1351	-6.8	0.0	11		65	0,8596		0,0,4298	no	missense	KDM4D	NM_018039.2	180	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	benign	451/524	94731887	1,12997	2201	4298	6499	SO:0001583	missense	55693				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr11:94731887C>T	AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1351C>T	11.37:g.94731887C>T	ENSP00000334181:p.Arg451Cys						p.R451C	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN			3	2183	+			451					B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	ENST00000335080.5	37	c.1351C>T	CCDS8302.1	.	.	.	.	.	.	.	.	.	.	C	8.895	0.954912	0.18431	2.27E-4	0.0	ENSG00000186280	ENST00000335080	T	0.32023	1.47	3.38	-6.77	0.01727	.	0.567300	0.15315	U	0.268847	T	0.09247	0.0228	N	0.03608	-0.345	0.09310	N	1	B	0.19073	0.033	B	0.10450	0.005	T	0.09228	-1.0684	10	0.48119	T	0.1	0.8459	4.4586	0.11656	0.3952:0.3493:0.0:0.2555	.	451	Q6B0I6	KDM4D_HUMAN	C	451	ENSP00000334181:R451C	ENSP00000334181:R451C	R	+	1	0	KDM4D	94371535	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.528000	0.02225	-1.810000	0.01230	-0.397000	0.06425	CGT		0.602	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396558.2	NM_018039	
SLCO1B7	338821	broad.mit.edu	37	12	21201833	21201833	+	Silent	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:21201833C>A	ENST00000421593.2	+	8	1182	c.1182C>A	c.(1180-1182)acC>acA	p.T394T	LST3_ENST00000540229.1_Intron|SLCO1B7_ENST00000554957.1_Silent_p.T441T|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Silent_p.T441T	NM_001009562.4	NP_001009562.3	G3V0H7	SO1B7_HUMAN	solute carrier organic anion transporter family, member 1B7 (non-functional)	394						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(25)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TAACCTTGACCTATGATGGGT	0.318																																						uc010sin.1																			0					0						c.(1180-1182)ACC>ACA		liver-specific organic anion transporter 3TM12							67.0	70.0	69.0					12																	21201833		2165	4283	6448	SO:0001819	synonymous_variant	338821					membrane	transporter activity	g.chr12:21201833C>A	AF401642	CCDS44843.1	12p12.3	2013-05-22			ENSG00000205754	ENSG00000205754		"""Solute carriers"""	32934	protein-coding gene	gene with protein product							Standard	NM_001009562		Approved	LST3, SLC21A21		G3V0H7	OTTHUMG00000169045	ENST00000421593.2:c.1182C>A	12.37:g.21201833C>A						SLCO1B3_uc010sil.1_Intron|LST-3TM12_uc010sim.1_Silent_p.T441T	p.T394T	NM_001009562	NP_001009562	Q71QF0	Q71QF0_HUMAN			8	1182	+			394					Q71QF0	Silent	SNP	ENST00000421593.2	37	c.1182C>A	CCDS44843.1																																																																																				0.318	SLCO1B7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402066.1	NM_001009562	
AAAS	8086	broad.mit.edu	37	12	53709176	53709176	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:53709176G>A	ENST00000209873.4	-	4	507	c.342C>T	c.(340-342)gcC>gcT	p.A114A	AAAS_ENST00000394384.3_Silent_p.A114A|AAAS_ENST00000550286.1_Intron|AAAS_ENST00000549983.1_5'UTR	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	114					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|fertilization (GO:0009566)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|learning (GO:0007612)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nucleocytoplasmic transport (GO:0006913)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|regulation of nucleocytoplasmic transport (GO:0046822)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGAGTGCCAGGGCCCAGCCGG	0.562																																						uc001scr.3																			0				ovary(1)	1						c.(340-342)GCC>GCT		achalasia, adrenocortical insufficiency,							56.0	52.0	53.0					12																	53709176		2202	4300	6502	SO:0001819	synonymous_variant	8086				carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore		g.chr12:53709176G>A	AJ289841	CCDS8856.1, CCDS53797.1	12q13	2013-06-27	2010-06-24		ENSG00000094914	ENSG00000094914		"""WD repeat domain containing"""	13666	protein-coding gene	gene with protein product	"""aladin"", ""Allgrove, triple-A"""	605378	"""achalasia, adrenocortical insufficiency, alacrimia (Allgrove, triple-A)"""			11062474	Standard	NM_015665		Approved		uc001scr.4	Q9NRG9	OTTHUMG00000169729	ENST00000209873.4:c.342C>T	12.37:g.53709176G>A						AAAS_uc001scs.3_Silent_p.A114A	p.A114A	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN			4	505	-			114					Q5JB47|Q9NWI6|Q9UG19	Silent	SNP	ENST00000209873.4	37	c.342C>T	CCDS8856.1																																																																																				0.562	AAAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405632.1		
POC1B	282809	broad.mit.edu	37	12	89864247	89864247	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:89864247A>G	ENST00000313546.3	-	7	829	c.701T>C	c.(700-702)aTa>aCa	p.I234T	POC1B_ENST00000378528.2_Intron|POC1B_ENST00000549035.1_Missense_Mutation_p.I192T|POC1B_ENST00000549504.1_Intron|POC1B_ENST00000541909.1_Missense_Mutation_p.I104T|POC1B_ENST00000393179.4_Missense_Mutation_p.I104T	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	234					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						ATGGAATGATATGCAATTAAC	0.388																																						uc001tbc.2																			0				ovary(1)	1						c.(700-702)ATA>ACA		WD repeat domain 51B							129.0	123.0	125.0					12																	89864247		2203	4300	6503	SO:0001583	missense	282809				cell projection organization	centriole|microtubule basal body		g.chr12:89864247A>G	AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.701T>C	12.37:g.89864247A>G	ENSP00000323302:p.Ile234Thr					POC1B_uc001tba.2_Missense_Mutation_p.I192T|POC1B_uc001tbb.2_Missense_Mutation_p.I104T|POC1B_uc010sun.1_RNA|POC1B_uc009zsp.2_RNA|POC1B_uc009zsq.2_Intron	p.I234T	NM_172240	NP_758440	Q8TC44	POC1B_HUMAN			7	806	-			234			WD 6.		G3V1X0	Missense_Mutation	SNP	ENST00000313546.3	37	c.701T>C	CCDS31869.1	.	.	.	.	.	.	.	.	.	.	A	11.89	1.773714	0.31411	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035;ENST00000541909	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.68	5.68	0.88126	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.729658	0.13574	N	0.377811	T	0.60366	0.2263	L	0.58969	1.84	0.80722	D	1	B	0.23185	0.081	B	0.25506	0.061	T	0.59532	-0.7437	10	0.66056	D	0.02	.	11.0391	0.47820	0.928:0.0:0.072:0.0	.	234	Q8TC44	POC1B_HUMAN	T	104;234;192;104	ENSP00000376877:I104T;ENSP00000323302:I234T;ENSP00000447916:I192T;ENSP00000440301:I104T	ENSP00000323302:I234T	I	-	2	0	POC1B	88388378	0.925000	0.31364	0.008000	0.14137	0.541000	0.35023	7.399000	0.79935	2.169000	0.68431	0.528000	0.53228	ATA		0.388	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406637.1	NM_172240	
TESC	54997	broad.mit.edu	37	12	117486887	117486887	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:117486887G>A	ENST00000335209.7	-	4	472	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	TESC_ENST00000392545.4_Missense_Mutation_p.R149W|TESC_ENST00000541210.1_Missense_Mutation_p.R69W|TESC_ENST00000535198.1_5'UTR			Q96BS2	CHP3_HUMAN	tescalcin	96					cell differentiation (GO:0030154)|cellular response to retinoic acid (GO:0071300)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell proliferation (GO:0008285)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of sodium:proton antiporter activity (GO:0032417)|positive regulation of transcription, DNA-templated (GO:0045893)|protein maturation (GO:0051604)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of cell adhesion mediated by integrin (GO:0033628)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphatase inhibitor activity (GO:0019212)|protein homodimerization activity (GO:0042803)|protein kinase inhibitor activity (GO:0004860)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		TCGATGGGCCGGAAGTAGGAC	0.587																																						uc001twh.2																			0					0						c.(445-447)CGG>TGG		tescalcin							171.0	128.0	142.0					12																	117486887		2203	4300	6503	SO:0001583	missense	54997				negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding	g.chr12:117486887G>A	AF443207	CCDS9183.2, CCDS9183.3, CCDS53835.1	12q24.22	2013-01-10			ENSG00000088992	ENSG00000088992		"""EF-hand domain containing"""	26065	protein-coding gene	gene with protein product	"""calcineurin-like EF hand protein 3"""	611585				11145610, 11696366, 12809501, 14661968	Standard	NM_017899		Approved	TSC, FLJ20607, CHP3	uc001twh.3	Q96BS2	OTTHUMG00000144168	ENST00000335209.7:c.286C>T	12.37:g.117486887G>A	ENSP00000334785:p.Arg96Trp					TESC_uc001twi.2_RNA	p.R149W	NM_017899	NP_060369	Q96BS2	TESC_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0297)	4	450	-	all_neural(191;0.117)|Medulloblastoma(191;0.163)		96					F5H1Y5|Q9NWT9	Missense_Mutation	SNP	ENST00000335209.7	37	c.445C>T	CCDS9183.3	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144725	0.77888	.	.	ENSG00000088992	ENST00000335209;ENST00000392545;ENST00000541210	T;T;T	0.50548	0.74;0.74;1.15	5.74	4.77	0.60923	EF-hand-like domain (1);	0.051692	0.64402	D	0.000001	T	0.72061	0.3414	M	0.87269	2.87	0.58432	D	0.999998	D	0.89917	1.0	D	0.74023	0.982	T	0.77435	-0.2589	10	0.87932	D	0	-29.8397	15.7517	0.77992	0.0:0.0:0.8218:0.1782	.	96	Q96BS2	TESC_HUMAN	W	96;149;69	ENSP00000334785:R96W;ENSP00000376328:R149W;ENSP00000445689:R69W	ENSP00000334785:R96W	R	-	1	2	TESC	115971270	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.049000	0.41288	2.709000	0.92574	0.555000	0.69702	CGG		0.587	TESC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000291363.2	NM_017899	
SBNO1	55206	broad.mit.edu	37	12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:123780522G>A	ENST00000602398.1	-	32	4242	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000420886.2_Missense_Mutation_p.A1372V			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372					regulation of transcription, DNA-templated (GO:0006355)			p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433																																						uc010tap.1																			2	Substitution - Missense(2)		lung(1)|prostate(1)	breast(5)|skin(2)|ovary(1)|kidney(1)	9						c.(4114-4116)GCG>GTG		sno, strawberry notch homolog 1							340.0	303.0	316.0					12																	123780522		2203	4300	6503	SO:0001583	missense	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780522G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4115C>T	12.37:g.123780522G>A	ENSP00000473665:p.Ala1372Val					SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Missense_Mutation_p.A1371V|SBNO1_uc010taq.1_Missense_Mutation_p.A323V	p.A1372V	NM_018183	NP_060653	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4115	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1372					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	ENST00000602398.1	37	c.4115C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.622923	0.87460	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.32515	1.45;1.45	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.45236	0.1332	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73708	0.959;0.981	T	0.12785	-1.0534	10	0.33940	T	0.23	-19.465	20.5792	0.99380	0.0:0.0:1.0:0.0	.	1372;1371	A3KN83;A3KN83-2	SBNO1_HUMAN;.	V	1372;1371	ENSP00000387361:A1372V;ENSP00000267176:A1371V	ENSP00000267176:A1371V	A	-	2	0	SBNO1	122346475	1.000000	0.71417	0.790000	0.31976	0.976000	0.68499	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	GCG		0.433	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183	
GLT1D1	144423	broad.mit.edu	37	12	129360490	129360490	+	Missense_Mutation	SNP	G	G	A	rs146263464	byFrequency	TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:129360490G>A	ENST00000442111.2	+	2	188	c.100G>A	c.(100-102)Gtt>Att	p.V34I	GLT1D1_ENST00000542193.1_5'UTR|GLT1D1_ENST00000537468.1_Missense_Mutation_p.V23I|GLT1D1_ENST00000281703.6_Missense_Mutation_p.V34I			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1	34					biosynthetic process (GO:0009058)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCACGTGTGCGTTTTGAAGGA	0.473													G|||	2	0.000399361	0.0015	0.0	5008	,	,		17088	0.0		0.0	False		,,,				2504	0.0					uc010tbh.1																			0					0						c.(67-69)GTT>ATT		glycosyltransferase 1 domain containing 1		G	ILE/VAL	4,4402	8.1+/-20.4	0,4,2199	150.0	152.0	152.0		100	-6.6	0.0	12	dbSNP_134	152	13,8587	9.8+/-36.6	0,13,4287	yes	missense	GLT1D1	NM_144669.1	29	0,17,6486	AA,AG,GG		0.1512,0.0908,0.1307	benign	34/267	129360490	17,12989	2203	4300	6503	SO:0001583	missense	144423				biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups	g.chr12:129360490G>A		CCDS9265.1	12q24.32	2013-02-22			ENSG00000151948	ENSG00000151948		"""Glycosyltransferase group 1 domain containing"""	26483	protein-coding gene	gene with protein product							Standard	NM_144669		Approved	FLJ31978	uc001uhx.1	Q96MS3	OTTHUMG00000168437	ENST00000442111.2:c.100G>A	12.37:g.129360490G>A	ENSP00000394692:p.Val34Ile					GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_RNA	p.V23I	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)	2	76	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		34					Q86XG8	Missense_Mutation	SNP	ENST00000442111.2	37	c.67G>A		.	.	.	.	.	.	.	.	.	.	G	3.525	-0.096988	0.07010	9.08E-4	0.001512	ENSG00000151948	ENST00000442111;ENST00000281703;ENST00000537468	T;T;T	0.48201	0.83;0.82;0.92	5.54	-6.59	0.01830	.	0.750686	0.12852	N	0.433825	T	0.18215	0.0437	N	0.10685	0.025	0.26759	N	0.970033	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.08146	-1.0736	10	0.29301	T	0.29	-7.2202	4.1895	0.10414	0.3051:0.1938:0.406:0.0951	.	23;34	F5H088;Q96MS3-2	.;.	I	34;34;23	ENSP00000394692:V34I;ENSP00000281703:V34I;ENSP00000438158:V23I	ENSP00000281703:V34I	V	+	1	0	GLT1D1	127926443	0.000000	0.05858	0.008000	0.14137	0.587000	0.36485	-0.806000	0.04525	-1.715000	0.01389	-1.099000	0.02127	GTT		0.473	GLT1D1-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000399740.1	NM_144669	
TUBA3C	7278	broad.mit.edu	37	13	19751585	19751585	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr13:19751585C>T	ENST00000400113.3	-	4	642	c.538G>A	c.(538-540)Gcc>Acc	p.A180T		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	180					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCACCACGGCCGTGGAGACC	0.547																																						uc009zzj.2																			0				ovary(3)|skin(2)	5						c.(538-540)GCC>ACC		tubulin, alpha 3c							151.0	154.0	153.0					13																	19751585		2203	4300	6503	SO:0001583	missense	7278				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	g.chr13:19751585C>T	AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.538G>A	13.37:g.19751585C>T	ENSP00000382982:p.Ala180Thr						p.A180T	NM_006001	NP_005992	Q13748	TBA3C_HUMAN		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)	4	587	-		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)	180					A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	ENST00000400113.3	37	c.538G>A	CCDS9284.1	.	.	.	.	.	.	.	.	.	.	c	11.66	1.705230	0.30232	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.69926	-0.44	1.19	0.277	0.15668	.	0.000000	0.46758	U	0.000271	T	0.66528	0.2798	.	.	.	0.35808	D	0.823685	.	.	.	.	.	.	T	0.68827	-0.5306	7	0.87932	D	0	.	5.6682	0.17707	0.0:0.7911:0.0:0.2089	.	.	.	.	T	180	ENSP00000382982:A180T	ENSP00000354037:A180T	A	-	1	0	TUBA3C	18649585	0.999000	0.42202	0.981000	0.43875	0.520000	0.34377	4.642000	0.61383	0.069000	0.16605	0.162000	0.16502	GCC		0.547	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044007.2	NM_006001	
RB1	5925	broad.mit.edu	37	13	48954327	48954328	+	Frame_Shift_Del	DEL	AT	AT	-	rs367661403		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr13:48954327_48954328delAT	ENST00000267163.4	+	16	1586_1587	c.1448_1449delAT	c.(1447-1449)catfs	p.H483fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	483	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.H483fs*9(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AACATTTTTCATATGTCTTTAT	0.238		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												uc001vcb.2		6	yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	D|Mis|N|F|S	retinoblastoma gene			"""L, E, M, O"""		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung		24	Whole gene deletion(15)|Unknown(8)|Deletion - Frameshift(1)	p.?(7)|p.H483fs*9(1)	bone(11)|breast(5)|eye(2)|central_nervous_system(2)|adrenal_gland(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)	lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358	GRCh37	CI030637|CI071455|CM016043	RB1	I|M		c.(1447-1449)CATfs		retinoblastoma 1	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)																																			SO:0001589	frameshift_variant	5925	Hereditary_Retinoblastoma	Familial Cancer Database		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	g.chr13:48954327_48954328delAT	M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1448_1449delAT	13.37:g.48954329_48954330delAT	ENSP00000267163:p.His483fs	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)					p.H483fs	NM_000321	NP_000312	P06400	RB_HUMAN		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	16	1614_1615	+		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	483			Domain A.|Pocket; binds T and E1A.		A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	ENST00000267163.4	37	c.1448_1449delAT	CCDS31973.1																																																																																				0.238	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
ARHGEF40	55701	broad.mit.edu	37	14	21552177	21552179	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:21552177_21552179delCTG	ENST00000298694.4	+	17	3884_3886	c.3757_3759delCTG	c.(3757-3759)ctgdel	p.L1254del	ARHGEF40_ENST00000298693.3_In_Frame_Del_p.L1254del			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	1254						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TGGCAGAGACCTGCTGGCCGTGG	0.655																																						uc001vzp.2																			0					0						c.(3757-3759)CTGdel		hypothetical protein LOC55701																																				SO:0001651	inframe_deletion	55701				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr14:21552177_21552179delCTG		CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.3757_3759delCTG	14.37:g.21552180_21552182delCTG	ENSP00000298694:p.Leu1254del					FLJ10357_uc001vzo.1_In_Frame_Del_p.L333del|FLJ10357_uc010aij.2_RNA|FLJ10357_uc010tln.1_In_Frame_Del_p.L540del	p.L1254del	NM_018071	NP_060541	Q8TER5	ARH40_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;5.79e-11)|Epithelial(56;8.35e-09)|all cancers(55;4.23e-08)	GBM - Glioblastoma multiforme(265;0.0197)	17	3786_3788	+	all_cancers(95;0.00185)		1254					A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	In_Frame_Del	DEL	ENST00000298694.4	37	c.3757_3759delCTG	CCDS32041.1																																																																																				0.655	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413122.1		
HOMEZ	57594	broad.mit.edu	37	14	23746303	23746303	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:23746303G>A	ENST00000357460.5	-	2	298	c.134C>T	c.(133-135)cCt>cTt	p.P45L	HOMEZ_ENST00000561013.1_Missense_Mutation_p.P47L|HOMEZ_ENST00000431326.2_Missense_Mutation_p.P47L	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	45					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGAGATTGGAGGGAGGCAGAT	0.532																																						uc001wja.2																			0					0						c.(133-135)CCT>CTT		homeodomain leucine zipper protein							100.0	95.0	96.0					14																	23746303		2016	4186	6202	SO:0001583	missense	57594					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:23746303G>A	AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.134C>T	14.37:g.23746303G>A	ENSP00000350049:p.Pro45Leu					HOMEZ_uc001wjb.2_Missense_Mutation_p.P47L	p.P45L	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN		GBM - Glioblastoma multiforme(265;0.00643)	2	282	-	all_cancers(95;5.54e-06)		45					A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	ENST00000357460.5	37	c.134C>T	CCDS45085.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.276655	0.80580	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.60424	0.19;0.19	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.69278	0.3093	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.70648	-0.4814	10	0.87932	D	0	.	19.1646	0.93551	0.0:0.0:1.0:0.0	.	47;45	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	L	45;47	ENSP00000350049:P45L;ENSP00000406579:P47L	ENSP00000350049:P45L	P	-	2	0	HOMEZ	22816143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.352000	0.73027	2.824000	0.97209	0.655000	0.94253	CCT		0.532	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834	
ADAM20	8748	broad.mit.edu	37	14	70990596	70990596	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:70990596A>G	ENST00000256389.3	-	2	1273	c.1029T>C	c.(1027-1029)caT>caC	p.H343H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	293	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GTGCAACATCATGTTGTAGTC	0.368																																						uc001xme.2																			0				skin(1)	1						c.(1027-1029)CAT>CAC		ADAM metallopeptidase domain 20 preproprotein							174.0	105.0	128.0					14																	70990596		2203	4300	6503	SO:0001819	synonymous_variant	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70990596A>G	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.1029T>C	14.37:g.70990596A>G							p.H343H	NM_003814	NP_003805	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	1274	-			293			Peptidase M12B.|Extracellular (Potential).		Q6GTZ1|Q9UKJ9	Silent	SNP	ENST00000256389.3	37	c.1029T>C	CCDS32111.1																																																																																				0.368	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2		
CDC42BPB	9578	broad.mit.edu	37	14	103447154	103447154	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:103447154C>A	ENST00000361246.2	-	8	1384	c.1096G>T	c.(1096-1098)Gac>Tac	p.D366Y		NM_006035.3	NP_006026.3			CDC42 binding protein kinase beta (DMPK-like)											NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGGATGTGTCAGAGGGACTG	0.463																																						uc001ymi.1																			0				large_intestine(3)|skin(3)|lung(2)|stomach(1)|breast(1)|ovary(1)	11						c.(1096-1098)GAC>TAC		CDC42-binding protein kinase beta							115.0	94.0	101.0					14																	103447154		2203	4300	6503	SO:0001583	missense	9578				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr14:103447154C>A	AF128625	CCDS9978.1	14q32.32	2010-05-12	2001-11-28		ENSG00000198752	ENSG00000198752			1738	protein-coding gene	gene with protein product		614062	"""CDC42-binding protein kinase beta (DMPK-like)"""			10198171	Standard	NM_006035		Approved	MRCKB, KIAA1124	uc001ymi.1	Q9Y5S2		ENST00000361246.2:c.1096G>T	14.37:g.103447154C>A	ENSP00000355237:p.Asp366Tyr						p.D366Y	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)	8	1328	-		Melanoma(154;0.155)	366			AGC-kinase C-terminal.			Missense_Mutation	SNP	ENST00000361246.2	37	c.1096G>T	CCDS9978.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.828022	0.90955	.	.	ENSG00000198752	ENST00000361246	T	0.41065	1.01	5.41	5.41	0.78517	Protein kinase, C-terminal (1);AGC-kinase, C-terminal (2);Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75708	0.3886	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83084	-0.0136	10	0.87932	D	0	.	19.193	0.93675	0.0:1.0:0.0:0.0	.	366	Q9Y5S2	MRCKB_HUMAN	Y	366	ENSP00000355237:D366Y	ENSP00000355237:D366Y	D	-	1	0	CDC42BPB	102516907	1.000000	0.71417	0.980000	0.43619	0.926000	0.56050	7.792000	0.85828	2.562000	0.86427	0.655000	0.94253	GAC		0.463	CDC42BPB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415711.1	NM_006035	
AHNAK2	113146	broad.mit.edu	37	14	105415172	105415172	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:105415172G>T	ENST00000333244.5	-	7	6735	c.6616C>A	c.(6616-6618)Ctt>Att	p.L2206I	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2206						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGCGGAAAGGGGCTGAATG	0.642																																						uc010axc.1																			0				ovary(1)	1						c.(6616-6618)CTT>ATT		AHNAK nucleoprotein 2							116.0	106.0	109.0					14																	105415172		1942	4131	6073	SO:0001583	missense	113146					nucleus		g.chr14:105415172G>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.6616C>A	14.37:g.105415172G>T	ENSP00000353114:p.Leu2206Ile					AHNAK2_uc001ypx.2_Missense_Mutation_p.L2106I	p.L2206I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	6736	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	2206					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.6616C>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	N	8.467	0.856578	0.17106	.	.	ENSG00000185567	ENST00000333244	T	0.00730	5.77	4.26	4.26	0.50523	.	.	.	.	.	T	0.00724	0.0024	N	0.08118	0	0.09310	N	0.999997	B	0.31290	0.318	B	0.35278	0.199	T	0.56092	-0.8036	9	0.48119	T	0.1	.	11.389	0.49802	0.0:0.184:0.816:0.0	.	2206	Q8IVF2	AHNK2_HUMAN	I	2206	ENSP00000353114:L2206I	ENSP00000353114:L2206I	L	-	1	0	AHNAK2	104486217	.	.	0.083000	0.20561	0.013000	0.08279	.	.	1.933000	0.56026	0.485000	0.47835	CTT		0.642	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
RYR3	6263	broad.mit.edu	37	15	34080624	34080624	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr15:34080624C>T	ENST00000389232.4	+	67	9865	c.9795C>T	c.(9793-9795)ttC>ttT	p.F3265F	RYR3_ENST00000415757.3_Silent_p.F3265F	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3265					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTATGCCTTCTACCCCATGC	0.557																																						uc001zhi.2																			0				ovary(5)|central_nervous_system(4)|lung(1)	10						c.(9793-9795)TTC>TTT		ryanodine receptor 3							63.0	66.0	65.0					15																	34080624		2019	4207	6226	SO:0001819	synonymous_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34080624C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.9795C>T	15.37:g.34080624C>T						RYR3_uc010bar.2_Silent_p.F3265F	p.F3265F	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	67	9865	+		all_lung(180;7.18e-09)	3265					O15175|Q15412	Silent	SNP	ENST00000389232.4	37	c.9795C>T	CCDS45210.1																																																																																				0.557	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
MAN2A2	4122	broad.mit.edu	37	15	91454437	91454437	+	Missense_Mutation	SNP	C	C	T	rs114870914		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr15:91454437C>T	ENST00000559717.1	+	13	2371	c.1912C>T	c.(1912-1914)Cgc>Tgc	p.R638C	MAN2A2_ENST00000431652.2_Missense_Mutation_p.R146C|MAN2A2_ENST00000360468.3_Missense_Mutation_p.R638C|MAN2A2_ENST00000430376.2_5'Flank			P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	638					cellular protein metabolic process (GO:0044267)|mannose metabolic process (GO:0006013)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTCCCAGAGCGCACGGTGAT	0.617													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20386	0.0		0.0	False		,,,				2504	0.0					uc010bnz.2																			0				large_intestine(2)|ovary(1)	3						c.(1912-1914)CGC>TGC		mannosidase, alpha, class 2A, member 2							82.0	63.0	69.0					15																	91454437		2198	4298	6496	SO:0001583	missense	4122				mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding	g.chr15:91454437C>T	L28821	CCDS32332.1	15q25	2011-06-30			ENSG00000196547	ENSG00000196547			6825	protein-coding gene	gene with protein product		600988				8524845	Standard	NM_006122		Approved	MANA2X, HsT19662	uc002bqc.3	P49641		ENST00000559717.1:c.1912C>T	15.37:g.91454437C>T	ENSP00000452948:p.Arg638Cys					MAN2A2_uc010boa.2_Missense_Mutation_p.R680C|MAN2A2_uc002bqc.2_Missense_Mutation_p.R638C|MAN2A2_uc010uql.1_Missense_Mutation_p.R300C|MAN2A2_uc010uqm.1_Missense_Mutation_p.R217C|MAN2A2_uc010uqn.1_5'Flank	p.R638C	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Lung(145;0.229)		13	2027	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		638			Lumenal (Potential).		A6NH12|A8K1E8|Q13754	Missense_Mutation	SNP	ENST00000559717.1	37	c.1912C>T	CCDS32332.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	21.1	4.094359	0.76870	.	.	ENSG00000196547	ENST00000360468;ENST00000431652	D;D	0.83506	-1.73;-1.73	5.19	4.2	0.49525	Glycosyl hydrolase, family 13, all-beta (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.149874	0.56097	D	0.000025	D	0.85097	0.5619	L	0.56769	1.78	0.80722	D	1	D;D;D;D	0.69078	0.997;0.991;0.997;0.981	P;P;P;P	0.54924	0.676;0.586;0.764;0.462	D	0.86272	0.1662	10	0.87932	D	0	-19.9469	11.5509	0.50721	0.3482:0.6518:0.0:0.0	.	146;266;638;638	B4DEU9;B4DIK4;P49641-1;P49641	.;.;.;MA2A2_HUMAN	C	638;146	ENSP00000353655:R638C;ENSP00000388221:R146C	ENSP00000353655:R638C	R	+	1	0	MAN2A2	89255441	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	2.984000	0.49353	2.600000	0.87896	0.485000	0.47835	CGC		0.617	MAN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418246.5	NM_006122	
ADCY9	115	broad.mit.edu	37	16	4042213	4042213	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:4042213G>T	ENST00000294016.3	-	5	2679	c.2141C>A	c.(2140-2142)cCg>cAg	p.P714Q	ADCY9_ENST00000571889.1_5'UTR	NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	714					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAACCTCAGCGGAAGGAGAGC	0.542																																						uc002cvx.2																			0				ovary(4)|large_intestine(1)|central_nervous_system(1)	6						c.(2140-2142)CCG>CAG		adenylate cyclase 9							105.0	93.0	97.0					16																	4042213		2197	4300	6497	SO:0001583	missense	115				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:4042213G>T	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2141C>A	16.37:g.4042213G>T	ENSP00000294016:p.Pro714Gln						p.P714Q	NM_001116	NP_001107	O60503	ADCY9_HUMAN			5	2680	-			714			Cytoplasmic (Potential).		A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Missense_Mutation	SNP	ENST00000294016.3	37	c.2141C>A	CCDS32382.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390043	0.61956	.	.	ENSG00000162104	ENST00000294016	D	0.84589	-1.87	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.79879	0.4522	L	0.50333	1.59	0.54753	D	0.999982	P	0.40302	0.712	B	0.33620	0.167	T	0.78140	-0.2320	10	0.11794	T	0.64	.	18.9204	0.92523	0.0:0.0:1.0:0.0	.	714	O60503	ADCY9_HUMAN	Q	714	ENSP00000294016:P714Q	ENSP00000294016:P714Q	P	-	2	0	ADCY9	3982214	1.000000	0.71417	0.943000	0.38184	0.972000	0.66771	5.260000	0.65490	2.463000	0.83235	0.643000	0.83706	CCG		0.542	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
SOCS1	8651	broad.mit.edu	37	16	11348719	11348719	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:11348719G>T	ENST00000332029.2	-	2	767	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	206	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				cellular response to amino acid stimulus (GO:0071230)|cytokine-mediated signaling pathway (GO:0019221)|fat cell differentiation (GO:0045444)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of protein phosphorylation (GO:0001932)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	insulin-like growth factor receptor binding (GO:0005159)|kinase inhibitor activity (GO:0019210)|protein kinase binding (GO:0019901)|protein kinase inhibitor activity (GO:0004860)	p.R127_*212del(1)|p.0?(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						GAAGGGGAAGGAGCTCAGGTA	0.627			"""F, O"""		"""Hodgkin Lymphoma, PMBL"""																																Colon(177;456 3548 27231)	uc002dar.1				Rec	yes		16	16p13.13	8651	F|O	suppressor of cytokine signaling 1			L			Hodgkin Lymphoma|PMBL		2	Whole gene deletion(1)|Deletion - In frame(1)	p.S206P(1)|p.R127_*212del(1)	haematopoietic_and_lymphoid_tissue(2)	haematopoietic_and_lymphoid_tissue(64)|lung(3)|breast(1)|central_nervous_system(1)	69						c.(616-618)TCC>TAC		suppressor of cytokine signaling 1							16.0	17.0	16.0					16																	11348719		2190	4281	6471	SO:0001583	missense	8651				interferon-gamma-mediated signaling pathway|JAK-STAT cascade|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity	g.chr16:11348719G>T	U88326	CCDS10546.1	16p13.13	2013-02-14			ENSG00000185338	ENSG00000185338		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19383	protein-coding gene	gene with protein product		603597				7796808, 9266833	Standard	NM_003745		Approved	SOCS-1, SSI-1, JAB, TIP3, Cish1	uc002dar.1	O15524	OTTHUMG00000129792	ENST00000332029.2:c.617C>A	16.37:g.11348719G>T	ENSP00000329418:p.Ser206Tyr					C16orf75_uc002daq.1_Intron	p.S206Y	NM_003745	NP_003736	O15524	SOCS1_HUMAN			2	771	-			206			SOCS box.		O15097|Q9NSA7	Missense_Mutation	SNP	ENST00000332029.2	37	c.617C>A	CCDS10546.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041562	0.55003	.	.	ENSG00000185338	ENST00000332029	T	0.28454	1.61	4.25	4.25	0.50352	SOCS protein, C-terminal (3);	0.208103	0.40302	N	0.001122	T	0.46502	0.1396	L	0.46157	1.445	0.50467	D	0.999879	D	0.65815	0.995	P	0.62649	0.905	T	0.49781	-0.8903	10	0.87932	D	0	-9.1369	15.8385	0.78818	0.0:0.0:1.0:0.0	.	206	O15524	SOCS1_HUMAN	Y	206	ENSP00000329418:S206Y	ENSP00000329418:S206Y	S	-	2	0	SOCS1	11256220	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	4.996000	0.63914	2.211000	0.71520	0.561000	0.74099	TCC		0.627	SOCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252018.1		
SEZ6L2	26470	broad.mit.edu	37	16	29908260	29908260	+	Missense_Mutation	SNP	G	G	A	rs201397581		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:29908260G>A	ENST00000308713.5	-	3	921	c.394C>T	c.(394-396)Cca>Tca	p.P132S	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Intron|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P88S|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P132S	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	132	Pro-rich.				adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGGGGGTGGGGCTGTGGTT	0.687													G|||	1	0.000199681	0.0	0.0	5008	,	,		7272	0.001		0.0	False		,,,				2504	0.0					uc002duq.3																			0				ovary(1)|skin(1)	2						c.(394-396)CCA>TCA		seizure related 6 homolog (mouse)-like 2 isoform							20.0	19.0	19.0					16																	29908260		2194	4294	6488	SO:0001583	missense	26470					endoplasmic reticulum membrane|integral to membrane|plasma membrane		g.chr16:29908260G>A	AY358404	CCDS10658.1, CCDS10659.1, CCDS45458.1, CCDS58447.1, CCDS73865.1	16p12.1	2008-02-05			ENSG00000174938	ENSG00000174938			30844	protein-coding gene	gene with protein product	"""type I transmembrane receptor (seizure related protein)"""					12975309	Standard	NM_012410		Approved	PSK-1, FLJ90517	uc010vec.2	Q6UXD5	OTTHUMG00000132112	ENST00000308713.5:c.394C>T	16.37:g.29908260G>A	ENSP00000312550:p.Pro132Ser					uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Intron|SEZ6L2_uc002dur.3_Intron|SEZ6L2_uc002dus.3_Missense_Mutation_p.P132S|SEZ6L2_uc010vec.1_Missense_Mutation_p.P132S|SEZ6L2_uc010ved.1_Missense_Mutation_p.P88S	p.P132S	NM_201575	NP_963869	Q6UXD5	SE6L2_HUMAN			3	634	-			132			Pro-rich.|Extracellular (Potential).		B7Z1N0|F5H293|H7BXQ6|Q9BW82|Q9UJ45|Q9UJ46|Q9UJ47	Missense_Mutation	SNP	ENST00000308713.5	37	c.394C>T	CCDS10659.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	13.60	2.286290	0.40494	.	.	ENSG00000174938	ENST00000308713;ENST00000346932;ENST00000537485	T;T;T	0.41758	1.55;1.55;0.99	5.36	3.35	0.38373	.	0.126162	0.36482	N	0.002567	T	0.21631	0.0521	N	0.12182	0.205	0.40876	D	0.983954	B;B;B;B	0.21753	0.06;0.036;0.036;0.036	B;B;B;B	0.20767	0.031;0.014;0.014;0.014	T	0.06356	-1.0831	9	.	.	.	.	8.7224	0.34449	0.0804:0.0:0.7666:0.1529	.	88;132;132;132	F5H293;B7Z5L4;Q9BW82;Q6UXD5	.;.;.;SE6L2_HUMAN	S	132;132;88	ENSP00000312550:P132S;ENSP00000319215:P132S;ENSP00000439412:P88S	.	P	-	1	0	SEZ6L2	29815761	1.000000	0.71417	0.997000	0.53966	0.636000	0.38137	2.059000	0.41384	1.228000	0.43614	0.561000	0.74099	CCA		0.687	SEZ6L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255154.2	NM_012410	
CHD9	80205	broad.mit.edu	37	16	53358755	53358755	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:53358755C>A	ENST00000398510.3	+	38	8729	c.8642C>A	c.(8641-8643)tCt>tAt	p.S2881Y	CHD9_ENST00000447540.1_Missense_Mutation_p.S2866Y|CHD9_ENST00000564845.1_Missense_Mutation_p.S2865Y|CHD9_ENST00000566029.1_Missense_Mutation_p.S2865Y			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2881	Poly-Ser.				cellular lipid metabolic process (GO:0044255)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCATCTGGATCTGATAGTACA	0.388																																						uc002ehb.2																			0				lung(2)|central_nervous_system(1)|breast(1)|skin(1)|ovary(1)|kidney(1)	7						c.(8641-8643)TCT>TAT		chromodomain helicase DNA binding protein 9							26.0	24.0	25.0					16																	53358755		1871	4094	5965	SO:0001583	missense	80205				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	g.chr16:53358755C>A	AK022240	CCDS45485.1	16q12.2	2006-04-12				ENSG00000177200			25701	protein-coding gene	gene with protein product						9205841	Standard	XM_005256168		Approved	FLJ12178, KIAA0308, BC022889	uc002egy.3	Q3L8U1		ENST00000398510.3:c.8642C>A	16.37:g.53358755C>A	ENSP00000381522:p.Ser2881Tyr					CHD9_uc002egy.2_Missense_Mutation_p.S2865Y|CHD9_uc002ehc.2_Missense_Mutation_p.S2866Y|CHD9_uc002ehf.2_Missense_Mutation_p.S1979Y|CHD9_uc010cbw.2_Missense_Mutation_p.S947Y	p.S2881Y	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN			38	8806	+		all_cancers(37;0.0212)	2881			Poly-Ser.		B2RTU2|B9ZVQ0|O15025|Q1WF12|Q6DTK9|Q9H9V7|Q9UHM2	Missense_Mutation	SNP	ENST00000398510.3	37	c.8642C>A		.	.	.	.	.	.	.	.	.	.	C	13.49	2.252687	0.39797	.	.	ENSG00000177200	ENST00000447540;ENST00000398510;ENST00000450543	D	0.86432	-2.12	4.91	4.91	0.64330	.	0.000000	0.49305	D	0.000151	D	0.89901	0.6849	L	0.29908	0.895	0.58432	D	0.999999	D;D;D;D	0.71674	0.998;0.997;0.995;0.997	D;D;D;D	0.80764	0.994;0.994;0.986;0.994	D	0.90907	0.4773	10	0.56958	D	0.05	-11.8854	18.4523	0.90709	0.0:1.0:0.0:0.0	.	947;2866;2881;2865	C9JR69;Q3L8U1-3;Q3L8U1;Q3L8U1-2	.;.;CHD9_HUMAN;.	Y	2866;2865;947	ENSP00000396345:S2866Y	ENSP00000381522:S2865Y	S	+	2	0	CHD9	51916256	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.686000	0.68211	2.427000	0.82271	0.655000	0.94253	TCT		0.388	CHD9-020	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000422345.1	NM_025134	
CDH8	1006	broad.mit.edu	37	16	61687800	61687800	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:61687800C>A	ENST00000577390.1	-	12	3066	c.2112G>T	c.(2110-2112)ttG>ttT	p.L704F	CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Missense_Mutation_p.L704F	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	704					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCATAAACTGCAAATCTGGTT	0.428																																						uc002eog.1																			0				ovary(6)|skin(2)|breast(1)	9						c.(2110-2112)TTG>TTT		cadherin 8, type 2 preproprotein							103.0	105.0	104.0					16																	61687800		2203	4300	6503	SO:0001583	missense	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61687800C>A	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.2112G>T	16.37:g.61687800C>A	ENSP00000462701:p.Leu704Phe						p.L704F	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	12	2364	-		Ovarian(137;0.0799)|Melanoma(118;0.16)	704			Cytoplasmic (Potential).		B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	ENST00000577390.1	37	c.2112G>T	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	7.346	0.621833	0.14193	.	.	ENSG00000150394	ENST00000299345	T	0.77489	-1.1	5.7	3.58	0.41010	Cadherin, cytoplasmic domain (1);	0.073684	0.53938	D	0.000043	T	0.63908	0.2551	L	0.41492	1.28	0.80722	D	1	B	0.09022	0.002	B	0.15870	0.014	T	0.55166	-0.8183	10	0.21014	T	0.42	.	5.662	0.17674	0.3554:0.5414:0.0:0.1031	.	704	P55286	CADH8_HUMAN	F	704	ENSP00000299345:L704F	ENSP00000299345:L704F	L	-	3	2	CDH8	60245301	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.585000	0.36600	1.314000	0.45095	0.655000	0.94253	TTG		0.428	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	
DPH1	1801	broad.mit.edu	37	17	1936938	1936938	+	Silent	SNP	C	C	A	rs375374400		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:1936938C>A	ENST00000263083.6	+	2	261	c.216C>A	c.(214-216)gcC>gcA	p.A72A	DPH1_ENST00000570477.1_5'UTR	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	72					cell proliferation (GO:0008283)|peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						TCCAACAAGCCCAGGCCAAGA	0.582																																						uc002fts.2																			0				pancreas(1)	1						c.(214-216)GCC>GCA		diptheria toxin resistance protein required for							85.0	94.0	91.0					17																	1936938		1997	4146	6143	SO:0001819	synonymous_variant	1801				peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus		g.chr17:1936938C>A	S81752	CCDS42228.1	17p13.3	2013-05-02	2013-05-02	2005-06-03	ENSG00000108963	ENSG00000108963			3003	protein-coding gene	gene with protein product	"""ovarian tumor suppressor candidate 1"""	603527	"""diptheria toxin resistance protein required for diphthamide biosynthesis-like 1 (S. cerevisiae)"", ""DPH-like 1 (S. cerevisiae)"", ""DPH1 homolog (S. cerevisiae)"""	DPH2L, DPH2L1		8603384, 15485916, 22869748	Standard	NM_001383		Approved	OVCA1	uc002fts.3	Q9BZG8	OTTHUMG00000177724	ENST00000263083.6:c.216C>A	17.37:g.1936938C>A						DPH1_uc002ftr.1_RNA|DPH1_uc002ftt.2_Silent_p.A67A|DPH1_uc010cjx.2_5'UTR|DPH1_uc010vqs.1_Silent_p.A82A	p.A72A	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN			2	234	+			72					D3DTI3|Q16439|Q4VBA2|Q9BTW7|Q9UCY0	Silent	SNP	ENST00000263083.6	37	c.216C>A	CCDS42228.1																																																																																				0.582	DPH1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438660.1	NM_001383	
KRT38	8687	broad.mit.edu	37	17	39594785	39594785	+	Silent	SNP	C	C	T	rs374000196		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:39594785C>T	ENST00000246646.3	-	5	977	c.978G>A	c.(976-978)acG>acA	p.T326T		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	326	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGGCATTCACCGTGCATCTCA	0.597																																						uc002hwq.1																			0				skin(2)	2						c.(976-978)ACG>ACA		keratin 38		C		0,4406		0,0,2203	145.0	110.0	122.0		978	-1.5	0.4	17		122	2,8592		0,2,4295	no	coding-synonymous	KRT38	NM_006771.3		0,2,6498	TT,TC,CC		0.0233,0.0,0.0154		326/457	39594785	2,12998	2203	4297	6500	SO:0001819	synonymous_variant	8687					intermediate filament	structural molecule activity	g.chr17:39594785C>T	Y16794	CCDS11392.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000171360	ENSG00000171360		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6456	protein-coding gene	gene with protein product		604542	"""keratin, hair, acidic, 8"""	KRTHA8		9756910, 16831889	Standard	NM_006771		Approved		uc002hwq.1	O76015	OTTHUMG00000133439	ENST00000246646.3:c.978G>A	17.37:g.39594785C>T							p.T326T	NM_006771	NP_006762	O76015	KRT38_HUMAN			5	1401	-		Breast(137;0.000496)	326			Coil 2.|Rod.		A2RRM5|Q6A164	Silent	SNP	ENST00000246646.3	37	c.978G>A	CCDS11392.1																																																																																				0.597	KRT38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257307.2	NM_006771	
KRT16	3868	broad.mit.edu	37	17	39768925	39768925	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:39768925G>A	ENST00000301653.4	-	1	80	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	6	Head.				aging (GO:0007568)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|epidermis development (GO:0008544)|hair cycle (GO:0042633)|intermediate filament cytoskeleton organization (GO:0045104)|negative regulation of cell migration (GO:0030336)	cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GTGAACTGGCGGCTGCAGGTG	0.657																																						uc002hxg.3																			0				skin(1)	1						c.(16-18)CGC>TGC		keratin 16							8.0	8.0	8.0					17																	39768925		2034	4060	6094	SO:0001583	missense	3868				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	g.chr17:39768925G>A	S79867	CCDS11401.1	17q21.2	2013-01-16	2008-08-01		ENSG00000186832	ENSG00000186832		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6423	protein-coding gene	gene with protein product	"""focal non-epidermolytic palmoplantar keratoderma"""	148067				2451124, 16831889	Standard	NM_005557		Approved	NEPPK	uc002hxg.4	P08779	OTTHUMG00000133495	ENST00000301653.4:c.16C>T	17.37:g.39768925G>A	ENSP00000301653:p.Arg6Cys					JUP_uc010wfs.1_Intron	p.R6C	NM_005557	NP_005548	P08779	K1C16_HUMAN			1	155	-		Breast(137;0.000307)	6			Head.		A8K488|P30654|Q16402|Q9UBG8	Missense_Mutation	SNP	ENST00000301653.4	37	c.16C>T	CCDS11401.1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404390	0.42613	.	.	ENSG00000186832	ENST00000301653	T	0.76709	-1.04	4.33	3.28	0.37604	.	0.000000	0.46758	D	0.000272	T	0.56834	0.2012	N	0.19112	0.55	0.39499	D	0.968175	D	0.61697	0.99	B	0.40565	0.333	T	0.58668	-0.7596	10	0.39692	T	0.17	.	4.9763	0.14142	0.1028:0.0:0.569:0.3281	.	6	P08779	K1C16_HUMAN	C	6	ENSP00000301653:R6C	ENSP00000301653:R6C	R	-	1	0	KRT16	37022451	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	1.507000	0.35758	2.402000	0.81655	0.462000	0.41574	CGC		0.657	KRT16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257408.1	NM_005557	
KLHL11	55175	broad.mit.edu	37	17	40010614	40010614	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:40010614C>T	ENST00000319121.3	-	2	1565	c.1505G>A	c.(1504-1506)cGg>cAg	p.R502Q	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	502										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GTATACAAACCGGTCTTCAAT	0.443																																						uc002hyf.1																			0					0						c.(1504-1506)CGG>CAG		kelch-like 11 precursor							84.0	71.0	75.0					17																	40010614		2203	4300	6503	SO:0001583	missense	55175					extracellular region		g.chr17:40010614C>T		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.1505G>A	17.37:g.40010614C>T	ENSP00000314608:p.Arg502Gln						p.R502Q	NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN			2	1511	-		Breast(137;0.00156)	502						Missense_Mutation	SNP	ENST00000319121.3	37	c.1505G>A	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.457100	0.63401	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.67865	-0.29	5.26	5.26	0.73747	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.70587	0.3241	L	0.32530	0.975	0.80722	D	1	D	0.76494	0.999	P	0.60068	0.868	T	0.64385	-0.6420	10	0.17832	T	0.49	8.6842	19.2191	0.93789	0.0:1.0:0.0:0.0	.	502	Q9NVR0	KLH11_HUMAN	Q	502;365	ENSP00000314608:R502Q	ENSP00000314608:R502Q	R	-	2	0	KLHL11	37264140	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.353000	0.79414	2.606000	0.88127	0.585000	0.79938	CGG		0.443	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143	
NPTX1	4884	broad.mit.edu	37	17	78447110	78447110	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:78447110C>T	ENST00000306773.4	-	3	944	c.787G>A	c.(787-789)Gcc>Acc	p.A263T	NPTX1_ENST00000575212.1_5'Flank	NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	263	Pentaxin.				axonogenesis involved in innervation (GO:0060385)|cellular response to glucose stimulus (GO:0071333)|cellular response to potassium ion (GO:0035865)|central nervous system development (GO:0007417)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrial transport (GO:0006839)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cytoplasmic vesicle (GO:0031410)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTGGCGTGGCGCTGGACTTG	0.587																																						uc002jyp.1																			0					0						c.(787-789)GCC>ACC		neuronal pentraxin I precursor							201.0	173.0	183.0					17																	78447110		2203	4300	6503	SO:0001583	missense	4884				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding	g.chr17:78447110C>T	U61849	CCDS32762.1	17q25.3	2008-05-14				ENSG00000171246			7952	protein-coding gene	gene with protein product		602367				8884281	Standard	NM_002522		Approved		uc002jyp.1	Q15818		ENST00000306773.4:c.787G>A	17.37:g.78447110C>T	ENSP00000307549:p.Ala263Thr						p.A263T	NM_002522	NP_002513	Q15818	NPTX1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)		3	945	-	all_neural(118;0.0538)		263			Pentaxin.		B3KXH3|Q5FWE6	Missense_Mutation	SNP	ENST00000306773.4	37	c.787G>A	CCDS32762.1	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046740	0.55110	.	.	ENSG00000171246	ENST00000306773;ENST00000535681	T	0.06449	3.3	4.27	3.3	0.37823	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	L	0.48986	1.54	0.80722	D	1	P	0.49447	0.924	B	0.41374	0.355	T	0.44847	-0.9301	10	0.17369	T	0.5	-21.6173	11.8502	0.52407	0.0:0.9132:0.0:0.0868	.	263	Q15818	NPTX1_HUMAN	T	263;25	ENSP00000307549:A263T	ENSP00000307549:A263T	A	-	1	0	NPTX1	76061705	1.000000	0.71417	0.671000	0.29857	0.545000	0.35147	5.703000	0.68340	1.001000	0.39076	0.511000	0.50034	GCC		0.587	NPTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438051.1		
POTEC	388468	broad.mit.edu	37	18	14533125	14533125	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr18:14533125A>G	ENST00000358970.5	-	5	989	c.990T>C	c.(988-990)gaT>gaC	p.D330D	POTEC_ENST00000389891.4_5'UTR|RNU6-1021P_ENST00000363262.1_RNA	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	330										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAGAAGATACATCAACATTTT	0.373																																						uc010dln.2																			0				skin(3)	3						c.(988-990)GAT>GAC		ANKRD26-like family B, member 2																																				SO:0001819	synonymous_variant	388468							g.chr18:14533125A>G	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.990T>C	18.37:g.14533125A>G						POTEC_uc010xaj.1_RNA	p.D330D	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN			5	1444	-			330			ANK 6.			Silent	SNP	ENST00000358970.5	37	c.990T>C	CCDS45835.1																																																																																				0.373	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269	
STXBP2	6813	broad.mit.edu	37	19	7707143	7707143	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:7707143G>A	ENST00000221283.5	+	9	749	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	STXBP2_ENST00000441779.2_Missense_Mutation_p.V251M|STXBP2_ENST00000414284.2_Missense_Mutation_p.V237M	NM_006949.2	NP_008880.2	Q15833	STXB2_HUMAN	syntaxin binding protein 2	240					leukocyte mediated cytotoxicity (GO:0001909)|neutrophil degranulation (GO:0043312)|protein transport (GO:0015031)|regulation of mast cell degranulation (GO:0043304)|vesicle docking involved in exocytosis (GO:0006904)	azurophil granule (GO:0042582)|cytolytic granule (GO:0044194)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin-3 binding (GO:0030348)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGACCCCGTGTCCCCACT	0.607																																						uc002mha.3																			0				central_nervous_system(1)	1						c.(718-720)GTG>ATG		syntaxin binding protein 2 isoform a							65.0	66.0	66.0					19																	7707143		2203	4300	6503	SO:0001583	missense	6813				leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	g.chr19:7707143G>A	U63533	CCDS12181.1, CCDS45948.1, CCDS62522.1	19p13.3-p13.2	2014-09-17				ENSG00000076944			11445	protein-coding gene	gene with protein product		601717				8921365	Standard	NM_001127396		Approved	UNC18B, Hunc18b	uc010xjr.3	Q15833		ENST00000221283.5:c.718G>A	19.37:g.7707143G>A	ENSP00000221283:p.Val240Met					STXBP2_uc002mhb.3_Missense_Mutation_p.V237M|STXBP2_uc010dvj.2_RNA|STXBP2_uc010xjr.1_Missense_Mutation_p.V251M|STXBP2_uc010dvk.2_Missense_Mutation_p.V208M|STXBP2_uc002mhc.3_Missense_Mutation_p.V8M|STXBP2_uc002mhe.1_5'Flank	p.V240M	NM_006949	NP_008880	Q15833	STXB2_HUMAN			9	763	+			240					B4E175|E7EQD5|Q9BU65	Missense_Mutation	SNP	ENST00000221283.5	37	c.718G>A	CCDS12181.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.415727	0.42817	.	.	ENSG00000076944	ENST00000221283;ENST00000414284;ENST00000441779;ENST00000543902	T;T;T	0.79845	-1.31;-1.31;-1.31	4.54	1.23	0.21249	.	0.085246	0.51477	D	0.000093	D	0.82701	0.5094	L	0.49455	1.56	0.39014	D	0.959618	D;P;D;D	0.65815	0.995;0.928;0.994;0.995	D;P;P;D	0.64144	0.922;0.862;0.872;0.922	T	0.81125	-0.1075	10	0.87932	D	0	-13.0072	8.0099	0.30347	0.2786:0.0:0.7214:0.0	.	251;206;237;240	E7EQD5;B4DY46;Q15833-2;Q15833	.;.;.;STXB2_HUMAN	M	240;237;251;240	ENSP00000221283:V240M;ENSP00000409471:V237M;ENSP00000413606:V251M	ENSP00000221283:V240M	V	+	1	0	STXBP2	7613143	1.000000	0.71417	0.093000	0.20910	0.542000	0.35054	3.277000	0.51654	0.052000	0.16007	-0.216000	0.12614	GTG		0.607	STXBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460963.1	NM_006949	
USE1	55850	broad.mit.edu	37	19	17330166	17330166	+	Silent	SNP	C	C	T	rs369161038		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:17330166C>T	ENST00000263897.5	+	7	614	c.567C>T	c.(565-567)gcC>gcT	p.A189A	USE1_ENST00000596136.1_Intron|USE1_ENST00000445667.2_Silent_p.A189A|USE1_ENST00000379776.4_Intron	NM_018467.3	NP_060937	Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	189					endoplasmic reticulum tubular network organization (GO:0071786)|lysosomal transport (GO:0007041)|protein catabolic process (GO:0030163)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|secretion by cell (GO:0032940)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|lung(3)	6						ATACCCTGGCCGcccagagtg	0.607																																						uc002nfo.2																			0					0						c.(565-567)GCC>GCT		unconventional SNARE in the ER 1 homolog							28.0	33.0	31.0					19																	17330166		1951	4138	6089	SO:0001819	synonymous_variant	55850				lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr19:17330166C>T	AF220052	CCDS46011.1	19p13.11	2007-08-20				ENSG00000053501			30882	protein-coding gene	gene with protein product	"""Q-SNARE"", ""SNARE-like tail-anchored protein 1 homolog (S. cerevisiae)"""	610675				16354670, 15029241	Standard	NM_018467		Approved	p31, SLT1, MDS032	uc002nfo.2	Q9NZ43		ENST00000263897.5:c.567C>T	19.37:g.17330166C>T						USE1_uc010eal.1_Intron	p.A189A	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN			7	627	+			189			Cytoplasmic (Potential).|Potential.		Q8NCK1|Q9BRT4	Silent	SNP	ENST00000263897.5	37	c.567C>T	CCDS46011.1																																																																																				0.607	USE1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463295.1	NM_018467	
ZNF85	7639	broad.mit.edu	37	19	21131689	21131689	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:21131689G>A	ENST00000328178.8	+	4	482	c.369G>A	c.(367-369)gaG>gaA	p.E123E	ZNF85_ENST00000597314.1_3'UTR|ZNF85_ENST00000601023.1_Silent_p.E64E|ZNF85_ENST00000345030.6_Silent_p.E90E	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	123					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GTATGGATGAGTGTAAGATGC	0.328																																						uc002npg.3																			0				central_nervous_system(1)	1						c.(367-369)GAG>GAA		zinc finger protein 85							62.0	64.0	63.0					19																	21131689		2203	4299	6502	SO:0001819	synonymous_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21131689G>A	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.369G>A	19.37:g.21131689G>A						ZNF85_uc010ecn.2_Silent_p.E58E|ZNF85_uc010eco.2_Silent_p.E71E|ZNF85_uc002npi.2_Silent_p.E64E	p.E123E	NM_003429	NP_003420	Q03923	ZNF85_HUMAN			4	496	+			123					B9ZVP4|Q6NVI0	Silent	SNP	ENST00000328178.8	37	c.369G>A	CCDS32977.1																																																																																				0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429	
KMT2B	9757	broad.mit.edu	37	19	36223857	36223857	+	Missense_Mutation	SNP	T	T	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:36223857T>A	ENST00000222270.7	+	28	6407	c.6407T>A	c.(6406-6408)cTc>cAc	p.L2136H	KMT2B_ENST00000420124.1_Missense_Mutation_p.L2136H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	2136					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GAGGAGTCACTCCCCCCGGCG	0.662																																						uc010eei.2																			0				central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11						c.(6406-6408)CTC>CAC		myeloid/lymphoid or mixed-lineage leukemia 4							10.0	12.0	11.0					19																	36223857		1889	4108	5997	SO:0001583	missense	9757				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:36223857T>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.6407T>A	19.37:g.36223857T>A	ENSP00000222270:p.Leu2136His						p.L2136H	NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		29	6407	+	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		2136					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.6407T>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	T	0.696	-0.792497	0.02884	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	D;D	0.84873	-1.91;-1.91	3.99	2.97	0.34412	.	0.216149	0.23420	N	0.048375	T	0.80613	0.4656	L	0.36672	1.1	0.09310	N	1	D	0.63046	0.992	P	0.51355	0.667	T	0.69978	-0.4998	10	0.37606	T	0.19	.	6.2402	0.20787	0.0:0.2:0.0:0.8	.	2136	Q9UMN6	MLL4_HUMAN	H	2136	ENSP00000222270:L2136H;ENSP00000398837:L2136H	ENSP00000222270:L2136H	L	+	2	0	AD000671.1	40915697	0.001000	0.12720	0.077000	0.20336	0.289000	0.27227	0.821000	0.27338	1.797000	0.52628	0.374000	0.22700	CTC		0.662	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
TIA1	7072	broad.mit.edu	37	2	70457951	70457951	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:70457951delA	ENST00000433529.2	-	3	369	c.159delT	c.(157-159)tttfs	p.F53fs	TIA1_ENST00000445587.1_Frame_Shift_Del_p.F53fs|TIA1_ENST00000416149.2_Frame_Shift_Del_p.F53fs|TIA1_ENST00000415783.2_Frame_Shift_Del_p.F53fs|TIA1_ENST00000282574.4_Frame_Shift_Del_p.F53fs|C2orf42_ENST00000470096.1_Intron	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	53	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GATGCTCATGAAACTCCACAA	0.398																																						uc002sgj.3																			0					0						c.(157-159)TTTfs		TIA1 cytotoxic granule-associated RNA binding							131.0	128.0	129.0					2																	70457951		2203	4300	6503	SO:0001589	frameshift_variant	7072				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding	g.chr2:70457951delA		CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.159delT	2.37:g.70457951delA	ENSP00000401371:p.Phe53fs					TIA1_uc002sgk.3_Frame_Shift_Del_p.F53fs|TIA1_uc002sgl.3_RNA|TIA1_uc002sgm.3_Frame_Shift_Del_p.F53fs|TIA1_uc010yqt.1_Frame_Shift_Del_p.F53fs	p.F53fs	NM_022173	NP_071505	P31483	TIA1_HUMAN			3	376	-			53			RRM 1.		Q53SS9	Frame_Shift_Del	DEL	ENST00000433529.2	37	c.159delT	CCDS1901.1																																																																																				0.398	TIA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251842.2	NM_022037	
MAP3K19	80122	broad.mit.edu	37	2	135738775	135738775	+	Missense_Mutation	SNP	T	T	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:135738775T>C	ENST00000375845.3	-	9	3566	c.3536A>G	c.(3535-3537)gAg>gGg	p.E1179G	MAP3K19_ENST00000392915.1_3'UTR|MAP3K19_ENST00000358371.4_Missense_Mutation_p.E1066G|MAP3K19_ENST00000375844.3_Missense_Mutation_p.E361G|MAP3K19_ENST00000392917.3_Missense_Mutation_p.E311G|MAP3K19_ENST00000315513.3_Missense_Mutation_p.E40G|MAP3K19_ENST00000392918.3_Missense_Mutation_p.E313G	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	1179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										CACACAGTTCTCATGGAGATA	0.413																																						uc002tue.1																			0				stomach(2)|urinary_tract(1)|ovary(1)|breast(1)	5						c.(3535-3537)GAG>GGG		Yeast Sps1/Ste20-related kinase 4 isoform 1							142.0	140.0	140.0					2																	135738775		2203	4300	6503	SO:0001583	missense	80122						ATP binding|protein serine/threonine kinase activity	g.chr2:135738775T>C	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.3536A>G	2.37:g.135738775T>C	ENSP00000365005:p.Glu1179Gly					YSK4_uc002tuf.1_Missense_Mutation_p.E361G|YSK4_uc010fnc.1_Missense_Mutation_p.E313G|YSK4_uc010fnd.1_Missense_Mutation_p.E1066G|YSK4_uc010zbg.1_Missense_Mutation_p.E311G|YSK4_uc002tuh.3_Missense_Mutation_p.E907G|YSK4_uc002tui.3_3'UTR	p.E1179G	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.112)	9	3567	-			1179			Protein kinase.		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	c.3536A>G	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	T	14.64	2.594632	0.46214	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000437365;ENST00000315513	T;T;T;T;T;T;T	0.25579	1.79;1.79;1.79;1.79;1.79;1.79;1.79	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000253	T	0.23766	0.0575	N	0.20807	0.61	0.25064	N	0.991043	P;P;P;P;P	0.52170	0.81;0.919;0.951;0.905;0.934	P;P;P;P;P	0.53401	0.498;0.604;0.553;0.553;0.725	T	0.12811	-1.0533	10	0.19590	T	0.45	.	9.6964	0.40161	0.0:0.0768:0.0:0.9232	.	311;1066;313;361;1179	B7ZMH9;Q56UN5-3;Q56UN5-4;Q56UN5-5;Q56UN5	.;.;.;.;YSK4_HUMAN	G	1179;1066;361;313;311;569;40	ENSP00000365005:E1179G;ENSP00000351140:E1066G;ENSP00000365004:E361G;ENSP00000376650:E313G;ENSP00000376649:E311G;ENSP00000392827:E569G;ENSP00000321160:E40G	ENSP00000321160:E40G	E	-	2	0	YSK4	135455245	0.494000	0.26043	1.000000	0.80357	0.997000	0.91878	0.415000	0.21181	2.192000	0.70111	0.460000	0.39030	GAG		0.413	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1	NM_025052	
TTN	7273	broad.mit.edu	37	2	179413171	179413171	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:179413171C>T	ENST00000591111.1	-	289	88483	c.88259G>A	c.(88258-88260)cGt>cAt	p.R29420H	TTN_ENST00000342992.6_Missense_Mutation_p.R28493H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22121H|TTN_ENST00000460472.2_Missense_Mutation_p.R21996H|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R22188H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R31061H|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592750.1_RNA			Q8WZ42	TITIN_HUMAN	titin	29420	Fibronectin type-III 114. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCCAACTACGGCGACTTGC	0.498																																						uc010zfg.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(85477-85479)CGT>CAT		titin isoform N2-A							192.0	191.0	191.0					2																	179413171		2000	4160	6160	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413171C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.88259G>A	2.37:g.179413171C>T	ENSP00000465570:p.Arg29420His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.R22188H|TTN_uc010zfi.1_Missense_Mutation_p.R22121H|TTN_uc010zfj.1_Missense_Mutation_p.R21996H	p.R28493H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		288	85702	-			29420					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.85478G>A		.	.	.	.	.	.	.	.	.	.	C	17.62	3.433719	0.62955	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.65	5.65	0.86999	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72630	0.3484	M	0.73319	2.225	0.53688	D	0.999974	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.67231	0.95;0.95;0.95;0.95	T	0.74768	-0.3553	9	0.87932	D	0	.	19.7272	0.96168	0.0:1.0:0.0:0.0	.	21996;22121;22188;29420	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	28493;21996;22188;22121;21993	ENSP00000343764:R28493H;ENSP00000434586:R21996H;ENSP00000340554:R22188H;ENSP00000352154:R22121H	ENSP00000340554:R22188H	R	-	2	0	TTN	179121417	0.999000	0.42202	1.000000	0.80357	0.970000	0.65996	4.102000	0.57776	2.646000	0.89796	0.655000	0.94253	CGT		0.498	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
SPAG16	79582	broad.mit.edu	37	2	214204919	214204919	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:214204919A>G	ENST00000331683.5	+	6	664	c.569A>G	c.(568-570)aAa>aGa	p.K190R	SPAG16_ENST00000447990.1_Missense_Mutation_p.K190R|SPAG16_ENST00000414961.2_3'UTR|SPAG16_ENST00000374309.3_Missense_Mutation_p.K96R|SPAG16_ENST00000413312.1_Missense_Mutation_p.K159R|SPAG16_ENST00000272898.7_Missense_Mutation_p.K190R	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	190					cilium assembly (GO:0042384)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAAATTCAGAAAGAACGTGAT	0.294																																						uc002veq.2																			0				ovary(1)|skin(1)	2						c.(568-570)AAA>AGA		sperm associated antigen 16 isoform 1							36.0	37.0	37.0					2																	214204919		2202	4296	6498	SO:0001583	missense	79582				cilium assembly	cilium axoneme|flagellar axoneme		g.chr2:214204919A>G	AF310672	CCDS2396.1, CCDS46508.1	2q34	2013-05-21			ENSG00000144451	ENSG00000144451		"""WD repeat domain containing"""	23225	protein-coding gene	gene with protein product		612173				12391165, 11867345	Standard	NM_024532		Approved	PF20, FLJ22724, DKFZp666P1710, WDR29	uc002veq.4	Q8N0X2	OTTHUMG00000133015	ENST00000331683.5:c.569A>G	2.37:g.214204919A>G	ENSP00000332592:p.Lys190Arg					SPAG16_uc010fuz.1_Missense_Mutation_p.K41R|SPAG16_uc002ver.2_Missense_Mutation_p.K136R|SPAG16_uc010zjk.1_Missense_Mutation_p.K96R|SPAG16_uc002vep.1_Intron|SPAG16_uc002ves.1_Missense_Mutation_p.K159R	p.K190R	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)	6	661	+		Renal(323;0.00461)	190			Potential.		Q498B7|Q658W1|Q68DB3|Q6I9Z6|Q8N9C7|Q9H601	Missense_Mutation	SNP	ENST00000331683.5	37	c.569A>G	CCDS2396.1	.	.	.	.	.	.	.	.	.	.	A	21.2	4.112021	0.77210	.	.	ENSG00000144451	ENST00000331683;ENST00000413312;ENST00000272898;ENST00000447990;ENST00000374309	T;T	0.62498	0.03;0.02	5.96	5.96	0.96718	.	0.065985	0.64402	D	0.000001	T	0.76744	0.4030	M	0.66939	2.045	0.36652	D	0.877449	D;P;P;D;D	0.69078	0.997;0.886;0.724;0.972;0.997	D;B;B;P;D	0.75020	0.985;0.44;0.292;0.728;0.985	T	0.81718	-0.0805	10	0.54805	T	0.06	.	14.4005	0.67041	1.0:0.0:0.0:0.0	.	96;41;159;130;190	B4DYB5;Q8N0X2-2;Q8N0X2-3;Q4G1A2;Q8N0X2	.;.;.;.;SPG16_HUMAN	R	190;159;190;190;96	ENSP00000332592:K190R;ENSP00000363428:K96R	ENSP00000272898:K190R	K	+	2	0	SPAG16	213913164	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.615000	0.67702	2.285000	0.76669	0.533000	0.62120	AAA		0.294	SPAG16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256601.2	NM_024532	
FN1	2335	broad.mit.edu	37	2	216300455	216300455	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:216300455G>A	ENST00000359671.1	-	1	336	c.71C>T	c.(70-72)aCg>aTg	p.T24M	FN1_ENST00000426059.1_Missense_Mutation_p.T24M|FN1_ENST00000356005.4_Missense_Mutation_p.T24M|FN1_ENST00000354785.4_Missense_Mutation_p.T24M|FN1_ENST00000323926.6_Missense_Mutation_p.T24M|FN1_ENST00000432072.2_Missense_Mutation_p.T24M|FN1_ENST00000336916.4_Missense_Mutation_p.T24M|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000357867.4_Missense_Mutation_p.T24M|FN1_ENST00000357009.2_Missense_Mutation_p.T24M|FN1_ENST00000421182.1_Missense_Mutation_p.T24M|FN1_ENST00000345488.5_Missense_Mutation_p.T24M|FN1_ENST00000446046.1_Missense_Mutation_p.T24M|FN1_ENST00000346544.3_Missense_Mutation_p.T24M|FN1_ENST00000443816.1_Missense_Mutation_p.T24M			P02751	FINC_HUMAN	fibronectin 1	24					acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CGAGGCTCCCGTGGAGGGCAC	0.667																																						uc002vfa.2																			0				central_nervous_system(7)|large_intestine(2)|breast(2)|ovary(1)|pancreas(1)	13						c.(70-72)ACG>ATG		fibronectin 1 isoform 1 preproprotein	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						24.0	22.0	23.0					2																	216300455		2203	4299	6502	SO:0001583	missense	2335				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding	g.chr2:216300455G>A		CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.71C>T	2.37:g.216300455G>A	ENSP00000352696:p.Thr24Met					FN1_uc002vfb.2_Missense_Mutation_p.T24M|FN1_uc002vfc.2_Missense_Mutation_p.T24M|FN1_uc002vfd.2_Missense_Mutation_p.T24M|FN1_uc002vfe.2_Missense_Mutation_p.T24M|FN1_uc002vff.2_Missense_Mutation_p.T24M|FN1_uc002vfg.2_Missense_Mutation_p.T24M|FN1_uc002vfh.2_Missense_Mutation_p.T24M|FN1_uc002vfi.2_Missense_Mutation_p.T24M|FN1_uc002vfj.2_Missense_Mutation_p.T24M|FN1_uc002vfl.2_Missense_Mutation_p.T24M	p.T24M	NM_212482	NP_997647	P02751	FINC_HUMAN		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	1	337	-		Renal(323;0.127)	24					B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37	c.71C>T		.	.	.	.	.	.	.	.	.	.	G	14.65	2.597892	0.46318	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;2.2;2.37;0.91;2.44;2.08;2.41;2.08;2.37;2.11;1.6;0.9;1.5;1.47	5.47	1.41	0.22369	.	0.804891	0.10972	N	0.613763	T	0.41673	0.1169	N	0.13098	0.295	0.09310	N	1	P;D;P;D;B;B;P;P;B;B;P	0.71674	0.865;0.98;0.759;0.998;0.265;0.173;0.864;0.834;0.265;0.265;0.742	B;P;B;P;B;B;P;B;B;B;B	0.61201	0.179;0.591;0.299;0.885;0.141;0.067;0.498;0.272;0.141;0.141;0.408	T	0.20107	-1.0285	10	0.35671	T	0.21	.	4.4412	0.11575	0.1304:0.1251:0.6154:0.1291	.	24;24;24;24;24;24;24;24;24;24;24	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	M	24	ENSP00000394423:T24M;ENSP00000323534:T24M;ENSP00000338200:T24M;ENSP00000350534:T24M;ENSP00000346839:T24M;ENSP00000352696:T24M;ENSP00000265312:T24M;ENSP00000273049:T24M;ENSP00000349509:T24M;ENSP00000410422:T24M;ENSP00000415018:T24M;ENSP00000399538:T24M;ENSP00000348285:T24M;ENSP00000398907:T24M	ENSP00000265313:T24M	T	-	2	0	FN1	216008700	0.022000	0.18835	0.000000	0.03702	0.165000	0.22458	1.952000	0.40343	0.278000	0.22164	0.585000	0.79938	ACG		0.667	FN1-204	KNOWN	basic	protein_coding	protein_coding		NM_212476	
FAM134A	79137	broad.mit.edu	37	2	220046155	220046155	+	Silent	SNP	C	C	T	rs548711754		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:220046155C>T	ENST00000430297.2	+	7	985	c.849C>T	c.(847-849)agC>agT	p.S283S		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	283						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGTGAAAGCGAGGCAGAGC	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		18963	0.0		0.0	False		,,,				2504	0.001					uc002vjw.3																			0				ovary(1)|central_nervous_system(1)	2						c.(847-849)AGC>AGT		hypothetical protein LOC79137							56.0	57.0	57.0					2																	220046155		2203	4300	6503	SO:0001819	synonymous_variant	79137					endoplasmic reticulum|integral to membrane		g.chr2:220046155C>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.849C>T	2.37:g.220046155C>T						FAM134A_uc010fwc.2_Silent_p.S76S|FAM134A_uc002vjx.2_Silent_p.S76S	p.S283S	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	985	+		Renal(207;0.0915)	283					Q6P1P5|Q9H0K7	Silent	SNP	ENST00000430297.2	37	c.849C>T	CCDS2434.1																																																																																				0.542	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293	
SP100	6672	broad.mit.edu	37	2	231406616	231406616	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:231406616G>A	ENST00000340126.4	+	28	2444	c.2413G>A	c.(2413-2415)Ggg>Agg	p.G805R	AC010149.4_ENST00000414539.1_RNA|AC010149.4_ENST00000455357.1_RNA	NM_001080391.1	NP_001073860.1	P23497	SP100_HUMAN	SP100 nuclear antigen	0					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAACAGAGAGGGGTCTCAGGG	0.478																																						uc002vqu.1																			0				ovary(4)|central_nervous_system(1)	5						c.(2413-2415)GGG>AGG		nuclear antigen Sp100 isoform 1							78.0	76.0	76.0					2																	231406616		1879	4113	5992	SO:0001583	missense	6672				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding	g.chr2:231406616G>A	AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000340126.4:c.2413G>A	2.37:g.231406616G>A	ENSP00000343023:p.Gly805Arg					SP100_uc010fxp.1_Missense_Mutation_p.G123R	p.G805R	NM_001080391	NP_001073860	P23497	SP100_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	28	2554	+		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)	Error:Variant_position_missing_in_P23497_after_alignment					B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	ENST00000340126.4	37	c.2413G>A	CCDS42832.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.011|0.011	-1.698763|-1.698763	0.00725|0.00725	.|.	.|.	ENSG00000067066|ENSG00000067066	ENST00000431952|ENST00000340126;ENST00000414648	.|T	.|0.44482	.|0.92	3.99|3.99	-7.97|-7.97	0.01139|0.01139	.|.	.|.	.|.	.|.	.|.	T|T	0.16257|0.16257	0.0391|0.0391	N|N	0.11927|0.11927	0.2|0.2	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.04013	.|0.001;0.001	T|T	0.07927|0.07927	-1.0747|-1.0747	5|9	.|0.26408	.|T	.|0.33	.|.	1.4994|1.4994	0.02473|0.02473	0.3483:0.289:0.2075:0.1552|0.3483:0.289:0.2075:0.1552	.|.	.|275;805	.|E9PHN1;P23497-4	.|.;.	E|R	178|805;275	.|ENSP00000343023:G805R	.|ENSP00000343023:G805R	G|G	+|+	2|1	0|0	SP100|SP100	231114860|231114860	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-5.808000|-5.808000	0.00097|0.00097	-4.311000|-4.311000	0.00057|0.00057	-1.814000|-1.814000	0.00607|0.00607	GGG|GGG		0.478	SP100-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332246.1	NM_003113	
HDAC4	9759	broad.mit.edu	37	2	240002804	240002804	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:240002804A>G	ENST00000345617.3	-	22	3513	c.2722T>C	c.(2722-2724)Ttg>Ctg	p.L908L	HDAC4_ENST00000543185.1_Silent_p.L492L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	908	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AAGGCCGCCAAGTACTCAGCG	0.602																																						uc002vyk.3																			0				breast(3)|skin(2)|ovary(1)	6						c.(2722-2724)TTG>CTG		histone deacetylase 4							32.0	37.0	36.0					2																	240002804		2203	4300	6503	SO:0001819	synonymous_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240002804A>G	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2722T>C	2.37:g.240002804A>G						HDAC4_uc010fyy.2_Silent_p.L865L	p.L908L	NM_006037	NP_006028	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	22	3514	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	908			Histone deacetylase.		Q9UND6	Silent	SNP	ENST00000345617.3	37	c.2722T>C	CCDS2529.1																																																																																				0.602	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037	
TPTE	7179	broad.mit.edu	37	21	10934961	10934961	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:10934961G>T	ENST00000361285.4	-	15	1161	c.832C>A	c.(832-834)Cac>Aac	p.H278N	TPTE_ENST00000342420.5_Missense_Mutation_p.H240N|TPTE_ENST00000298232.7_Missense_Mutation_p.H260N|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	278	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTCGATAGTGGTTTCGGTGT	0.348																																						uc002yip.1																			0				ovary(2)|lung(1)|breast(1)|skin(1)	5						c.(832-834)CAC>AAC		transmembrane phosphatase with tensin homology							257.0	229.0	238.0					21																	10934961		2203	4300	6503	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10934961G>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.832C>A	21.37:g.10934961G>T	ENSP00000355208:p.His278Asn					TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.H260N|TPTE_uc002yir.1_Missense_Mutation_p.H240N|TPTE_uc010gkv.1_Missense_Mutation_p.H140N	p.H278N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	15	1200	-			278			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.832C>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	8.998	0.979327	0.18812	.	.	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420	T;T;T	0.27402	1.67;1.67;1.67	2.25	1.34	0.21922	Phosphatase tensin type (1);	0.111614	0.64402	U	0.000010	T	0.28433	0.0703	M	0.66506	2.035	0.43103	D	0.994798	P;P;P	0.40032	0.537;0.699;0.587	B;B;B	0.41174	0.237;0.237;0.349	T	0.03641	-1.1017	10	0.41790	T	0.15	-28.4415	4.6427	0.12558	0.1905:0.0:0.8095:0.0	.	240;260;278	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	N	260;278;240	ENSP00000298232:H260N;ENSP00000355208:H278N;ENSP00000344441:H240N	ENSP00000298232:H260N	H	-	1	0	TPTE	9956832	1.000000	0.71417	0.055000	0.19348	0.113000	0.19764	7.162000	0.77515	0.515000	0.28320	0.194000	0.17425	CAC		0.348	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		
MAP3K7CL	56911	broad.mit.edu	37	21	30547106	30547106	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:30547106G>A	ENST00000399947.2	+	9	899	c.622G>A	c.(622-624)Gag>Aag	p.E208K	MAP3K7CL_ENST00000341618.4_Missense_Mutation_p.E208K|MAP3K7CL_ENST00000399934.1_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000286791.5_3'UTR|MAP3K7CL_ENST00000399926.1_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000399925.1_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000399935.2_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000399928.1_Missense_Mutation_p.E108K|MAP3K7CL_ENST00000545939.1_Missense_Mutation_p.E102K|MAP3K7CL_ENST00000339024.4_Missense_Mutation_p.E108K	NM_020152.2	NP_064537.1	P57077	M3KCL_HUMAN	MAP3K7 C-terminal like	208						cytosol (GO:0005829)|nucleus (GO:0005634)											TCGGGAATTCGAGGCTCTGAC	0.517																																						uc002yne.2																			0				ovary(2)	2						c.(622-624)GAG>AAG		chromosome 21 open reading frame 7							122.0	114.0	117.0					21																	30547106		2203	4300	6503	SO:0001583	missense	56911					cytosol|nucleus	protein binding	g.chr21:30547106G>A	AF269161	CCDS13584.1, CCDS68182.1, CCDS74775.1	21q22.3	2013-02-22	2013-02-22	2013-02-22	ENSG00000156265	ENSG00000156265			16457	protein-coding gene	gene with protein product		611110	"""chromosome 21 open reading frame 7"""	C21orf7			Standard	NM_020152		Approved	TAKL, TAK1L, TAKL-1, TAKL-2, TAKL-4	uc002ynf.3	P57077	OTTHUMG00000078806	ENST00000399947.2:c.622G>A	21.37:g.30547106G>A	ENSP00000382828:p.Glu208Lys					C21orf7_uc011acr.1_RNA|C21orf7_uc002ynd.2_RNA|C21orf7_uc010gln.2_RNA|C21orf7_uc002ynf.2_Missense_Mutation_p.E208K|C21orf7_uc010glo.2_Missense_Mutation_p.E53K|C21orf7_uc002yng.2_Missense_Mutation_p.E108K|C21orf7_uc010glp.2_RNA	p.E208K	NM_020152	NP_064537	P57077	TAK1L_HUMAN		Colorectal(56;0.248)	8	893	+			208					D3DSE0|Q8TCL9	Missense_Mutation	SNP	ENST00000399947.2	37	c.622G>A	CCDS13584.1	.	.	.	.	.	.	.	.	.	.	G	8.861	0.946886	0.18356	.	.	ENSG00000156265	ENST00000545939;ENST00000341618;ENST00000399935;ENST00000399934;ENST00000399947;ENST00000339024;ENST00000399928;ENST00000399926;ENST00000399925	T;T	0.45276	0.9;0.9	4.06	4.06	0.47325	.	0.269260	0.35903	N	0.002911	T	0.24122	0.0584	N	0.19112	0.55	0.36726	D	0.881458	P;P	0.51537	0.938;0.946	B;B	0.41894	0.124;0.369	T	0.17623	-1.0363	10	0.02654	T	1	-20.5512	13.43	0.61049	0.0:0.0:0.8422:0.1578	.	108;208	B0EVZ8;P57077	.;TAK1L_HUMAN	K	102;208;108;108;208;108;108;108;108	ENSP00000343212:E208K;ENSP00000382828:E208K	ENSP00000345777:E108K	E	+	1	0	C21orf7	29468977	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.778000	0.62368	2.535000	0.85469	0.650000	0.86243	GAG		0.517	MAP3K7CL-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000171865.2	NM_020152	
SON	6651	broad.mit.edu	37	21	34925244	34925244	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:34925244A>G	ENST00000356577.4	+	3	4182	c.3707A>G	c.(3706-3708)gAt>gGt	p.D1236G	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.D1236G|SON_ENST00000290239.6_Missense_Mutation_p.D1236G|SON_ENST00000381679.4_Missense_Mutation_p.D1236G	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1236					cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCAGCATCAGATCCCTCAGTT	0.478																																						uc002yse.1																			0				ovary(4)|skin(2)	6						c.(3706-3708)GAT>GGT		SON DNA-binding protein isoform F							146.0	151.0	150.0					21																	34925244		2203	4300	6503	SO:0001583	missense	6651				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding	g.chr21:34925244A>G	AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.3707A>G	21.37:g.34925244A>G	ENSP00000348984:p.Asp1236Gly					SON_uc002ysb.1_Missense_Mutation_p.D1236G|SON_uc002ysc.2_Missense_Mutation_p.D1236G|SON_uc002ysd.2_Missense_Mutation_p.D227G|SON_uc002ysf.1_Intron|SON_uc002ysg.2_Missense_Mutation_p.D227G	p.D1236G	NM_138927	NP_620305	P18583	SON_HUMAN			3	3756	+			1236					D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	Missense_Mutation	SNP	ENST00000356577.4	37	c.3707A>G	CCDS13629.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.28|17.28	3.349151|3.349151	0.61183|0.61183	.|.	.|.	ENSG00000159140|ENSG00000159140	ENST00000356577;ENST00000290239;ENST00000300278;ENST00000381679|ENST00000436227	T;T;T;T|.	0.12774|.	2.84;2.84;2.83;2.65|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.280929|.	0.25433|.	N|.	0.030714|.	T|T	0.27419|0.27419	0.0673|0.0673	N|N	0.08118|0.08118	0|0	0.29212|0.29212	N|N	0.874481|0.874481	P;P;B;P;P|.	0.45078|.	0.775;0.85;0.027;0.775;0.629|.	B;B;B;B;B|.	0.42282|.	0.382;0.197;0.035;0.382;0.382|.	T|T	0.19160|0.19160	-1.0314|-1.0314	10|5	0.66056|.	D|.	0.02|.	.|.	13.4258|13.4258	0.61024|0.61024	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1236;1236;917;1236;1236|.	P18583-10;P18583;P18583-2;P18583-3;P18583-6|.	.;SON_HUMAN;.;.;.|.	G|V	1236|231	ENSP00000348984:D1236G;ENSP00000290239:D1236G;ENSP00000300278:D1236G;ENSP00000371095:D1236G|.	ENSP00000290239:D1236G|.	D|I	+|+	2|1	0|0	SON|SON	33847114|33847114	1.000000|1.000000	0.71417|0.71417	0.968000|0.968000	0.41197|0.41197	0.973000|0.973000	0.67179|0.67179	4.993000|4.993000	0.63895|0.63895	2.062000|2.062000	0.61559|0.61559	0.460000|0.460000	0.39030|0.39030	GAT|ATC		0.478	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140978.2	NM_138927	
TRAPPC10	7109	broad.mit.edu	37	21	45503036	45503036	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:45503036A>G	ENST00000291574.4	+	14	2266	c.2091A>G	c.(2089-2091)agA>agG	p.R697R		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	697					sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	sodium ion transmembrane transporter activity (GO:0015081)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTATCTGCAGAAACGTCCACA	0.547																																						uc002zea.2																			0				ovary(1)|skin(1)	2						c.(2089-2091)AGA>AGG		trafficking protein particle complex 10							76.0	74.0	75.0					21																	45503036		2203	4300	6503	SO:0001819	synonymous_variant	7109				vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	g.chr21:45503036A>G	U19252	CCDS13704.1	21q22.3	2008-05-07	2008-05-07	2008-05-07	ENSG00000160218	ENSG00000160218		"""Trafficking protein particle complex"""	11868	protein-coding gene	gene with protein product	"""trafficking protein particle complex subunit 130"", ""TRAPP 130 kDa subunit"""	602103	"""transmembrane protein 1"""	TMEM1		7633421	Standard	NM_003274		Approved	EHOC-1, TRS130	uc002zea.3	P48553	OTTHUMG00000086894	ENST00000291574.4:c.2091A>G	21.37:g.45503036A>G						TRAPPC10_uc010gpo.2_Silent_p.R408R|TRAPPC10_uc011afa.1_Silent_p.R116R	p.R697R	NM_003274	NP_003265	P48553	TPC10_HUMAN			14	2260	+			697					Q3MIR2|Q86SI7|Q9UMD4|Q9Y4L3	Silent	SNP	ENST00000291574.4	37	c.2091A>G	CCDS13704.1																																																																																				0.547	TRAPPC10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000195737.1	NM_003274	
COL6A2	1292	broad.mit.edu	37	21	47531965	47531965	+	Missense_Mutation	SNP	C	C	T	rs201094892	byFrequency	TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:47531965C>T	ENST00000300527.4	+	3	292	c.188C>T	c.(187-189)aCg>aTg	p.T63M	COL6A2_ENST00000397763.1_Missense_Mutation_p.T63M|COL6A2_ENST00000310645.5_Missense_Mutation_p.T63M|COL6A2_ENST00000357838.4_Missense_Mutation_p.T63M|COL6A2_ENST00000409416.1_Missense_Mutation_p.T63M	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	63	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.T63M(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGTCCCCCACGGACATCCTG	0.612													C|||	7	0.00139776	0.0023	0.0	5008	,	,		12985	0.001		0.001	False		,,,				2504	0.002					uc002zia.1																			3	Substitution - Missense(3)		endometrium(3)	central_nervous_system(7)|ovary(1)	8						c.(187-189)ACG>ATG		alpha 2 type VI collagen isoform 2C2 precursor							109.0	75.0	87.0					21																	47531965		2203	4300	6503	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47531965C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.188C>T	21.37:g.47531965C>T	ENSP00000300527:p.Thr63Met					COL6A2_uc002zhy.1_Missense_Mutation_p.T63M|COL6A2_uc002zhz.1_Missense_Mutation_p.T63M|COL6A2_uc002zib.1_Intron	p.T63M	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	3	270	+	Breast(49;0.245)		63			VWFA 1.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.188C>T	CCDS13728.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	8.024	0.760296	0.15914	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000436769;ENST00000409416;ENST00000397763	T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;-1.2;-1.2	4.34	0.924	0.19418	von Willebrand factor, type A (3);	0.253908	0.39475	N	0.001350	T	0.64962	0.2646	N	0.08118	0	0.29214	N	0.874385	D;D;D	0.64830	0.988;0.994;0.964	P;P;P	0.56398	0.797;0.681;0.536	T	0.60500	-0.7251	10	0.37606	T	0.19	-13.2612	5.6992	0.17873	0.0:0.3376:0.0:0.6624	.	63;63;63	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	M	63	ENSP00000300527:T63M;ENSP00000350497:T63M;ENSP00000312529:T63M;ENSP00000390418:T63M;ENSP00000387115:T63M;ENSP00000380870:T63M	ENSP00000300527:T63M	T	+	2	0	COL6A2	46356393	0.680000	0.27605	0.445000	0.26908	0.158000	0.22134	1.708000	0.37899	0.411000	0.25702	0.467000	0.42956	ACG		0.612	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		
YDJC	150223	broad.mit.edu	37	22	21984158	21984158	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr22:21984158G>A	ENST00000292778.6	-	1	195	c.146C>T	c.(145-147)gCg>gTg	p.A49V	YDJC_ENST00000398873.3_Missense_Mutation_p.A49V|CCDC116_ENST00000607942.1_5'Flank|CCDC116_ENST00000292779.3_5'Flank	NM_001017964.1	NP_001017964.1	A8MPS7	YDJC_HUMAN	YdjC homolog (bacterial)	49					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)					Colorectal(54;0.105)					CAGCTCCGCCGCGCTCTCCGT	0.731																																						uc002zvb.2																			0					0						c.(145-147)GCG>GTG		YdjC homolog							9.0	10.0	10.0					22																	21984158		2159	4241	6400	SO:0001583	missense	150223				carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds	g.chr22:21984158G>A		CCDS33613.1	22q11.21	2008-02-26			ENSG00000161179	ENSG00000161179			27158	protein-coding gene	gene with protein product						18177738	Standard	XM_005261347		Approved		uc002zvb.2	A8MPS7	OTTHUMG00000150822	ENST00000292778.6:c.146C>T	22.37:g.21984158G>A	ENSP00000292778:p.Ala49Val					YDJC_uc002zvc.2_RNA|YDJC_uc002zvd.2_Missense_Mutation_p.A49V|CCDC116_uc011aih.1_5'Flank|CCDC116_uc002zve.2_5'Flank	p.A49V	NM_001017964	NP_001017964	A8MPS7	YDJC_HUMAN			1	183	-	Colorectal(54;0.105)		49					Q2YDT4|Q4V9R7	Missense_Mutation	SNP	ENST00000292778.6	37	c.146C>T	CCDS33613.1	.	.	.	.	.	.	.	.	.	.	g	20.6	4.017155	0.75161	.	.	ENSG00000161179	ENST00000292778;ENST00000398873	T;T	0.56275	0.47;0.47	4.29	4.29	0.51040	Polysaccharide deacetylase (1);	0.000000	0.85682	D	0.000000	T	0.77170	0.4091	M	0.91872	3.25	0.48571	D	0.999674	D;D	0.89917	0.999;1.0	P;D	0.79108	0.866;0.992	T	0.83131	-0.0113	10	0.87932	D	0	-20.3873	14.6937	0.69103	0.0:0.0:1.0:0.0	.	49;49	A8MPS7-2;A8MPS7	.;YDJC_HUMAN	V	49	ENSP00000292778:A49V;ENSP00000381847:A49V	ENSP00000292778:A49V	A	-	2	0	YDJC	20314158	1.000000	0.71417	1.000000	0.80357	0.013000	0.08279	6.538000	0.73852	2.384000	0.81235	0.639000	0.83563	GCG		0.731	YDJC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320213.1		
TYMP	1890	broad.mit.edu	37	22	50967631	50967631	+	Silent	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr22:50967631G>A	ENST00000252029.3	-	3	513	c.351C>T	c.(349-351)tcC>tcT	p.S117S	SCO2_ENST00000543927.1_5'Flank|TYMP_ENST00000395678.3_Silent_p.S117S|TYMP_ENST00000395680.1_Silent_p.S117S|TYMP_ENST00000395681.1_Silent_p.S117S	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	117					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|chemotaxis (GO:0006935)|DNA replication (GO:0006260)|mitochondrial genome maintenance (GO:0000002)|nucleobase-containing small molecule metabolic process (GO:0055086)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine nucleotide metabolic process (GO:0006220)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphorylase activity (GO:0004645)|platelet-derived growth factor receptor binding (GO:0005161)|pyrimidine-nucleoside phosphorylase activity (GO:0016154)|thymidine phosphorylase activity (GO:0009032)|transferase activity, transferring pentosyl groups (GO:0016763)			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	Capecitabine(DB01101)|Cidofovir(DB00369)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Trifluridine(DB00432)	CACCCCCTGTGGAATGCTTGT	0.637																																						uc003bmb.3																			0				ovary(1)	1						c.(349-351)TCC>TCT		endothelial cell growth factor 1	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)						53.0	51.0	51.0					22																	50967631		2203	4300	6503	SO:0001819	synonymous_variant	1890				angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity	g.chr22:50967631G>A	M63193	CCDS14096.1, CCDS58811.1	22q13	2014-09-17	2008-01-21	2008-01-21	ENSG00000025708	ENSG00000025708	2.4.2.4		3148	protein-coding gene	gene with protein product	"""gliostatin"""	131222	"""endothelial cell growth factor 1 (platelet-derived)"""	MNGIE, ECGF1		1590793, 11733540	Standard	NM_001113755		Approved		uc003bme.5	P19971	OTTHUMG00000150249	ENST00000252029.3:c.351C>T	22.37:g.50967631G>A						TYMP_uc003bmc.3_Silent_p.S117S|TYMP_uc003bmd.3_Silent_p.S117S|TYMP_uc010hbd.2_Silent_p.S117S|TYMP_uc003bme.3_Silent_p.S117S|TYMP_uc003bmf.3_Silent_p.S117S|TYMP_uc011arz.1_Silent_p.S117S	p.S117S	NM_001113756	NP_001107228	P19971	TYPH_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	2	471	-		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	117					A8MW15|H9KVA0|Q13390|Q8WVB7	Silent	SNP	ENST00000252029.3	37	c.351C>T	CCDS14096.1																																																																																				0.637	TYMP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317081.1	NM_001953	
CHRD	8646	broad.mit.edu	37	3	184099068	184099068	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr3:184099068A>G	ENST00000204604.1	+	3	544	c.298A>G	c.(298-300)Aag>Gag	p.K100E	EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.K100E|CHRD_ENST00000545352.1_5'Flank|CHRD_ENST00000348986.3_Missense_Mutation_p.K100E|CHRD_ENST00000482805.1_3'UTR	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	100	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTCAGCTGCAAGAACATCAA	0.647																																						uc003fov.2																			0				skin(2)|ovary(1)	3						c.(298-300)AAG>GAG		chordin precursor							19.0	23.0	22.0					3																	184099068		2201	4297	6498	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184099068A>G	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.298A>G	3.37:g.184099068A>G	ENSP00000204604:p.Lys100Glu					CHRD_uc003fow.2_5'UTR|CHRD_uc003fox.2_Missense_Mutation_p.K100E|CHRD_uc003foy.2_5'UTR|CHRD_uc010hyc.2_5'UTR|CHRD_uc011brr.1_5'Flank	p.K100E	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		3	544	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		100			VWFC 1.		O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.298A>G	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	A	17.94	3.510967	0.64522	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986	T;T;T	0.71579	-0.58;-0.58;-0.58	5.18	5.18	0.71444	von Willebrand factor, type C (3);	0.048756	0.85682	D	0.000000	T	0.60547	0.2277	N	0.24115	0.695	0.80722	D	1	B;B	0.27286	0.062;0.174	B;B	0.32724	0.151;0.068	T	0.61048	-0.7141	10	0.49607	T	0.09	-21.6553	13.8652	0.63583	1.0:0.0:0.0:0.0	.	100;100	E7ESX1;Q9H2X0	.;CHRD_HUMAN	E	100	ENSP00000204604:K100E;ENSP00000408972:K100E;ENSP00000334036:K100E	ENSP00000204604:K100E	K	+	1	0	CHRD	185581762	1.000000	0.71417	1.000000	0.80357	0.569000	0.35902	6.548000	0.73896	1.954000	0.56735	0.459000	0.35465	AAG		0.647	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	
CLOCK	9575	broad.mit.edu	37	4	56336954	56336954	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr4:56336954delA	ENST00000309964.4	-	7	618	c.368delT	c.(367-369)ttafs	p.L123fs	CLOCK_ENST00000513440.1_Frame_Shift_Del_p.L123fs|CLOCK_ENST00000381322.1_Frame_Shift_Del_p.L123fs	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	123	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				cellular response to ionizing radiation (GO:0071479)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|circadian rhythm (GO:0007623)|DNA damage checkpoint (GO:0000077)|histone acetylation (GO:0016573)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of transcription, DNA-templated (GO:0045892)|photoperiodism (GO:0009648)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of hair cycle (GO:0042634)|regulation of insulin secretion (GO:0050796)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|regulation of type B pancreatic cell development (GO:2000074)|response to redox state (GO:0051775)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|chromosome (GO:0005694)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|histone acetyltransferase activity (GO:0004402)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.L123fs*1(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			CATGATTGCTAAAAAAAAACC	0.289																																						uc003haz.1																			2	Deletion - Frameshift(2)		ovary(1)|lung(1)	central_nervous_system(2)|ovary(1)	3						c.(367-369)TTAfs		clock							88.0	93.0	92.0					4																	56336954		2201	4298	6499	SO:0001589	frameshift_variant	9575				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr4:56336954delA	AF011568	CCDS3500.1	4q12	2012-12-07	2012-12-07		ENSG00000134852	ENSG00000134852		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	2082	protein-coding gene	gene with protein product		601851	"""clock (mouse) homolog"", ""clock homolog (mouse)"""			10198158	Standard	NM_001267843		Approved	KIAA0334, KAT13D, bHLHe8	uc003hba.2	O15516	OTTHUMG00000102141	ENST00000309964.4:c.368delT	4.37:g.56336954delA	ENSP00000308741:p.Leu123fs					CLOCK_uc003hba.1_Frame_Shift_Del_p.L123fs	p.L123fs	NM_004898	NP_004889	O15516	CLOCK_HUMAN	LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)		9	1294	-	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		123			PAS 1.		A0AV01|A2I2N9|O14516|Q9UIT8	Frame_Shift_Del	DEL	ENST00000309964.4	37	c.368delT	CCDS3500.1																																																																																				0.289	CLOCK-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361993.2	NM_004898	
RASSF6	166824	broad.mit.edu	37	4	74464408	74464408	+	Silent	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr4:74464408G>T	ENST00000342081.3	-	3	319	c.189C>A	c.(187-189)acC>acA	p.T63T	RASSF6_ENST00000335049.5_Intron|RASSF6_ENST00000307439.5_Silent_p.T31T|RASSF6_ENST00000395777.2_Silent_p.T31T	NM_201431.2	NP_958834.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	63					apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|signal transduction (GO:0007165)					breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AAATGTTATAGGTCTTCAATA	0.303																																						uc003hhd.1																			0				pancreas(2)	2						c.(187-189)ACC>ACA		Ras association (RalGDS/AF-6) domain family 6							57.0	56.0	56.0					4																	74464408		2201	4297	6498	SO:0001819	synonymous_variant	166824				apoptosis|signal transduction		protein binding	g.chr4:74464408G>T	AY217664	CCDS3558.1, CCDS3559.1, CCDS58904.1, CCDS58905.1	4q21.1	2008-02-22	2008-02-22		ENSG00000169435	ENSG00000169435			20796	protein-coding gene	gene with protein product		612620					Standard	NM_177532		Approved		uc003hhd.2	Q6ZTQ3	OTTHUMG00000130007	ENST00000342081.3:c.189C>A	4.37:g.74464408G>T						RASSF6_uc003hhc.1_Silent_p.T31T|RASSF6_uc010iik.1_Silent_p.T31T|RASSF6_uc010iil.1_Intron	p.T63T	NM_201431	NP_958834	Q6ZTQ3	RASF6_HUMAN	all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)		3	312	-	Breast(15;0.00102)		63					Q68DT2|Q6PDA6|Q86WG9|Q86WH0	Silent	SNP	ENST00000342081.3	37	c.189C>A	CCDS3558.1																																																																																				0.303	RASSF6-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252279.1	NM_177532	
EGF	1950	broad.mit.edu	37	4	110882086	110882086	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr4:110882086C>A	ENST00000265171.5	+	7	1575	c.1130C>A	c.(1129-1131)tCc>tAc	p.S377Y	EGF_ENST00000509793.1_Missense_Mutation_p.S335Y|EGF_ENST00000503392.1_Missense_Mutation_p.S377Y	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	377	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	ACCCCTGGATCCTATTACTGC	0.398																																						uc003hzy.3																			0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1129-1131)TCC>TAC		epidermal growth factor precursor	Sulindac(DB00605)						242.0	218.0	226.0					4																	110882086		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110882086C>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1130C>A	4.37:g.110882086C>A	ENSP00000265171:p.Ser377Tyr					EGF_uc011cfu.1_Missense_Mutation_p.S335Y|EGF_uc011cfv.1_Missense_Mutation_p.S377Y	p.S377Y	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	7	1582	+		Hepatocellular(203;0.0893)	377			EGF-like 2; calcium-binding (Potential).|Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1130C>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.101505	0.76983	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.95412	-3.7;-3.7;-3.7	4.82	4.82	0.62117	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.98476	0.9492	H	0.95816	3.725	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99804	1.1037	10	0.72032	D	0.01	.	17.9396	0.89023	0.0:1.0:0.0:0.0	.	377;335;377	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	Y	335;377;377	ENSP00000424316:S335Y;ENSP00000265171:S377Y;ENSP00000421384:S377Y	ENSP00000265171:S377Y	S	+	2	0	EGF	111101535	1.000000	0.71417	1.000000	0.80357	0.759000	0.43091	5.236000	0.65354	2.225000	0.72522	0.561000	0.74099	TCC		0.398	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1		
DNAH5	1767	broad.mit.edu	37	5	13883072	13883072	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:13883072C>A	ENST00000265104.4	-	20	3219	c.3115G>T	c.(3115-3117)Gag>Tag	p.E1039*	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1039	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGATGCACTCCACGGCTTTG	0.537									Kartagener syndrome																													uc003jfd.2																			0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(3115-3117)GAG>TAG		dynein, axonemal, heavy chain 5							173.0	151.0	159.0					5																	13883072		2203	4300	6503	SO:0001587	stop_gained	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13883072C>A	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3115G>T	5.37:g.13883072C>A	ENSP00000265104:p.Glu1039*						p.E1039*	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			20	3157	-	Lung NSC(4;0.00476)		1039			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Nonsense_Mutation	SNP	ENST00000265104.4	37	c.3115G>T	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	C	42	9.736460	0.99251	.	.	ENSG00000039139	ENST00000265104	.	.	.	6.03	6.03	0.97812	.	0.103999	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05721	T	0.95	.	20.5753	0.99366	0.0:1.0:0.0:0.0	.	.	.	.	X	1039	.	ENSP00000265104:E1039X	E	-	1	0	DNAH5	13936072	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	5.846000	0.69444	2.868000	0.98415	0.557000	0.71058	GAG		0.537	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
AP3B1	8546	broad.mit.edu	37	5	77473219	77473219	+	Silent	SNP	T	T	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:77473219T>G	ENST00000255194.6	-	9	1159	c.984A>C	c.(982-984)ccA>ccC	p.P328P	AP3B1_ENST00000519295.1_Silent_p.P279P	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	328					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTTCAGATTTTGGTGATATGT	0.348									Hermansky-Pudlak syndrome																													uc003kfj.2																			0				central_nervous_system(1)	1						c.(982-984)CCA>CCC		adaptor-related protein complex 3, beta 1							118.0	114.0	116.0					5																	77473219		2203	4300	6503	SO:0001819	synonymous_variant	8546	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77473219T>G	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.984A>C	5.37:g.77473219T>G							p.P328P	NM_003664	NP_003655	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	9	1109	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	328					E5RJ68|O00580|Q7Z393|Q9HD66	Silent	SNP	ENST00000255194.6	37	c.984A>C	CCDS4041.1																																																																																				0.348	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2		
GABRG2	2566	broad.mit.edu	37	5	161524689	161524689	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:161524689C>T	ENST00000361925.4	+	4	593	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	GABRG2_ENST00000414552.2_Missense_Mutation_p.R125C|GABRG2_ENST00000393933.4_Missense_Mutation_p.R30C|GABRG2_ENST00000356592.3_Missense_Mutation_p.R125C			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	125					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R125C(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTATGACAGACGTTTGAAATT	0.328																																						uc003lyz.3																			1	Substitution - Missense(1)		endometrium(1)	ovary(4)|skin(1)	5						c.(373-375)CGT>TGT		gamma-aminobutyric acid A receptor, gamma 2							90.0	91.0	91.0					5																	161524689		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161524689C>T		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.373C>T	5.37:g.161524689C>T	ENSP00000354651:p.Arg125Cys					GABRG2_uc010jjc.2_Missense_Mutation_p.R125C|GABRG2_uc003lyy.3_Missense_Mutation_p.R125C|GABRG2_uc011dej.1_Missense_Mutation_p.R30C	p.R125C	NM_000816	NP_000807	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	4	731	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	125			Extracellular (Probable).		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.373C>T	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	C	19.39	3.819241	0.71028	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.94401	0.8199	H	0.97440	4.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95812	0.8842	10	0.87932	D	0	.	15.6854	0.77405	0.1375:0.8625:0.0:0.0	.	125;125;125	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	C	125;125;125;30;30	ENSP00000349000:R125C;ENSP00000410732:R125C;ENSP00000354651:R125C;ENSP00000377510:R30C;ENSP00000430182:R30C	ENSP00000349000:R125C	R	+	1	0	GABRG2	161457267	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.215000	0.42862	2.756000	0.94617	0.563000	0.77884	CGT		0.328	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
HLA-DRA	3122	broad.mit.edu	37	6	32410459	32410459	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:32410459C>T	ENST00000374982.5	+	2	390	c.317C>T	c.(316-318)cCg>cTg	p.P106L	HLA-DRA_ENST00000395388.2_Missense_Mutation_p.P106L			P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	106	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002504)|cognition (GO:0050890)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|peptide antigen assembly with MHC class II protein complex (GO:0002503)|polysaccharide assembly with MHC class II protein complex (GO:0002506)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AACTATACTCCGATCACCAAT	0.463									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of																													uc003obh.2																			0				ovary(1)|skin(1)	2						c.(316-318)CCG>CTG		major histocompatibility complex, class II, DR							206.0	189.0	195.0					6																	32410459		1511	2709	4220	SO:0001583	missense	3122	T-cell_Lymphoma_(Cutaneous)__Familial_Clustering_of|Kaposi_Sarcoma_Familial_Clustering_of	Familial Cancer Database	incl.: Mycosis Fungoides, Sezary syndrome, Adult T-cell Lymphoma;	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32410459C>T		CCDS4750.1	6p21.3	2013-01-11			ENSG00000204287	ENSG00000204287		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4947	protein-coding gene	gene with protein product		142860		HLA-DRA1			Standard	NM_019111		Approved		uc003obh.3	P01903	OTTHUMG00000031269	ENST00000374982.5:c.317C>T	6.37:g.32410459C>T	ENSP00000364121:p.Pro106Leu					HLA-DRA_uc003obi.2_Missense_Mutation_p.P106L	p.P106L	NM_019111	NP_061984	P01903	DRA_HUMAN			2	398	+			106			Extracellular (Potential).|Alpha-1.		A2BET4|Q30160|Q6IAZ1|Q861I2|Q9TP70	Missense_Mutation	SNP	ENST00000374982.5	37	c.317C>T		.	.	.	.	.	.	.	.	.	.	.	9.484	1.098919	0.20552	.	.	ENSG00000204287	ENST00000395388;ENST00000374982	T;T	0.01068	5.38;5.38	5.38	4.52	0.55395	MHC class II, alpha/beta chain, N-terminal (1);MHC classes I/II-like antigen recognition protein (1);MHC class II, alpha chain, N-terminal (2);	0.061993	0.64402	D	0.000003	T	0.01287	0.0042	M	0.91300	3.195	0.21220	N	0.999756	P;P	0.40360	0.706;0.714	B;B	0.38378	0.272;0.057	T	0.31308	-0.9948	10	0.72032	D	0.01	.	9.7988	0.40751	0.0:0.9082:0.0:0.0918	.	106;106	Q30118;P01903	.;DRA_HUMAN	L	106	ENSP00000378786:P106L;ENSP00000364121:P106L	ENSP00000364121:P106L	P	+	2	0	HLA-DRA	32518437	0.000000	0.05858	0.037000	0.18230	0.008000	0.06430	0.135000	0.15952	1.523000	0.49018	0.638000	0.83543	CCG		0.463	HLA-DRA-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000076587.3	NM_019111	
DNAH8	1769	broad.mit.edu	37	6	38773311	38773311	+	Frame_Shift_Del	DEL	A	A	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:38773311delA	ENST00000359357.3	+	21	2692	c.2438delA	c.(2437-2439)gacfs	p.D813fs	DNAH8_ENST00000441566.1_Frame_Shift_Del_p.D813fs|DNAH8_ENST00000449981.2_Frame_Shift_Del_p.D1030fs			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	813					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAAACAATGACTATGAAGCT	0.308																																						uc003ooe.1																			0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(2437-2439)GACfs		dynein, axonemal, heavy polypeptide 8							108.0	106.0	107.0					6																	38773311		2203	4300	6503	SO:0001589	frameshift_variant	1769							g.chr6:38773311delA	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.2438delA	6.37:g.38773311delA	ENSP00000352312:p.Asp813fs						p.D813fs	NM_001371	NP_001362					21	3038	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Frame_Shift_Del	DEL	ENST00000359357.3	37	c.2438delA																																																																																					0.308	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
HEY2	23493	broad.mit.edu	37	6	126080811	126080811	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:126080811G>A	ENST00000368364.3	+	5	1074	c.877G>A	c.(877-879)Gca>Aca	p.A293T	HEY2_ENST00000368365.1_Missense_Mutation_p.A247T	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	293	Ala-rich.				anterior/posterior axis specification (GO:0009948)|arterial endothelial cell differentiation (GO:0060842)|ascending aorta morphogenesis (GO:0035910)|atrial septum morphogenesis (GO:0060413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate commitment (GO:0045165)|cochlea development (GO:0090102)|coronary vasculature morphogenesis (GO:0060977)|dorsal aorta morphogenesis (GO:0035912)|endocardial cushion to mesenchymal transition involved in heart valve formation (GO:0003199)|heart trabecula formation (GO:0060347)|labyrinthine layer blood vessel development (GO:0060716)|mesenchymal cell development (GO:0014031)|muscular septum morphogenesis (GO:0003150)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cardiac vascular smooth muscle cell differentiation (GO:2000723)|negative regulation of gene expression (GO:0010629)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of transcription by transcription factor localization (GO:0010621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000820)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of heart rate (GO:0010460)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein-DNA complex assembly (GO:0065004)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of auditory receptor cell differentiation (GO:0045607)|regulation of vasculogenesis (GO:2001212)|smooth muscle cell differentiation (GO:0051145)|tricuspid valve formation (GO:0003195)|tricuspid valve morphogenesis (GO:0003186)|umbilical cord morphogenesis (GO:0036304)|vascular smooth muscle cell development (GO:0097084)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	histone deacetylase binding (GO:0042826)|microsatellite binding (GO:0035939)|protein binding transcription factor activity (GO:0000988)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCCCCCAAACGCAGCAGCAGC	0.647																																						uc003qad.2																			0				breast(1)	1						c.(877-879)GCA>ACA		hairy/enhancer-of-split related with YRPW motif							78.0	87.0	84.0					6																	126080811		2203	4299	6502	SO:0001583	missense	23493				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	g.chr6:126080811G>A	AJ249545	CCDS5131.1	6q	2013-10-17	2013-10-17		ENSG00000135547	ENSG00000135547		"""Basic helix-loop-helix proteins"""	4881	protein-coding gene	gene with protein product		604674	"""hairy/enhancer-of-split related with YRPW motif 2"""			10415358	Standard	NM_012259		Approved	bHLHb32, HERP1, HESR2	uc003qad.3	Q9UBP5	OTTHUMG00000015512	ENST00000368364.3:c.877G>A	6.37:g.126080811G>A	ENSP00000357348:p.Ala293Thr					HEY2_uc011ebr.1_Missense_Mutation_p.A247T	p.A293T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)	5	1068	+			293			Ala-rich.			Missense_Mutation	SNP	ENST00000368364.3	37	c.877G>A	CCDS5131.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.918302	0.52546	.	.	ENSG00000135547	ENST00000368365;ENST00000368364	T;T	0.59906	0.25;0.23	5.64	5.64	0.86602	.	0.312221	0.30374	N	0.009766	T	0.25158	0.0611	N	0.08118	0	0.45261	D	0.998266	P	0.51653	0.947	B	0.40134	0.32	T	0.10132	-1.0643	10	0.18710	T	0.47	-13.3863	19.7057	0.96071	0.0:0.0:1.0:0.0	.	293	Q9UBP5	HEY2_HUMAN	T	247;293	ENSP00000357349:A247T;ENSP00000357348:A293T	ENSP00000357348:A293T	A	+	1	0	HEY2	126122504	0.992000	0.36948	0.086000	0.20670	0.779000	0.44077	3.035000	0.49759	2.651000	0.90000	0.561000	0.74099	GCA		0.647	HEY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042077.1		
USP42	84132	broad.mit.edu	37	7	6189851	6189851	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:6189851C>T	ENST00000306177.5	+	13	2182	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	675					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.A675V(1)|p.A803V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AACGGCCTAGCGCCTGATGGT	0.562																																						uc011jwo.1																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)|pancreas(1)|breast(1)	5						c.(2023-2025)GCG>GTG		ubiquitin specific peptidase 42							32.0	36.0	34.0					7																	6189851		2060	4194	6254	SO:0001583	missense	84132				cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr7:6189851C>T	AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.2024C>T	7.37:g.6189851C>T	ENSP00000301962:p.Ala675Val					USP42_uc010kth.1_Missense_Mutation_p.A608V|USP42_uc011jwp.1_Missense_Mutation_p.A675V|USP42_uc011jwq.1_Missense_Mutation_p.A482V|USP42_uc011jwr.1_Missense_Mutation_p.A520V	p.A675V	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)	13	2147	+		Ovarian(82;0.0423)	675					A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Missense_Mutation	SNP	ENST00000306177.5	37	c.2024C>T	CCDS47535.1	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369166	0.24771	.	.	ENSG00000106346	ENST00000306177;ENST00000426246	T;T	0.47177	0.85;0.85	5.83	2.74	0.32292	.	1.448360	0.03809	N	0.265659	T	0.28101	0.0693	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.002;0.003;0.002;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.0	T	0.18147	-1.0346	10	0.37606	T	0.19	.	3.6091	0.08053	0.1788:0.4475:0.0:0.3737	.	638;675;675;675	A4D2N7;Q9H9J4-2;Q9H9J4;A4D2N6	.;.;UBP42_HUMAN;.	V	675;521	ENSP00000301962:A675V;ENSP00000408217:A521V	ENSP00000301962:A675V	A	+	2	0	USP42	6156377	0.000000	0.05858	0.002000	0.10522	0.010000	0.07245	0.345000	0.19979	0.628000	0.30357	0.650000	0.86243	GCG		0.562	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3	XM_166526	
ZNF479	90827	broad.mit.edu	37	7	57194352	57194352	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:57194352C>T	ENST00000331162.4	-	3	383	c.113G>A	c.(112-114)cGg>cAg	p.R38Q		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATATAAATTCCGCTGAGCACA	0.398																																						uc010kzo.2																			0				ovary(3)|skin(1)	4						c.(112-114)CGG>CAG		zinc finger protein 479							72.0	73.0	72.0					7																	57194352		2194	4293	6487	SO:0001583	missense	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57194352C>T	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.113G>A	7.37:g.57194352C>T	ENSP00000333776:p.Arg38Gln						p.R38Q	NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		3	384	-			38			KRAB.			Missense_Mutation	SNP	ENST00000331162.4	37	c.113G>A	CCDS43590.1	.	.	.	.	.	.	.	.	.	.	c	0.007	-1.981095	0.00448	.	.	ENSG00000185177	ENST00000331162	T	0.02763	4.17	1.25	-1.27	0.09347	Krueppel-associated box (4);	.	.	.	.	T	0.03477	0.0100	M	0.80183	2.485	0.20489	N	0.999892	B	0.06786	0.001	B	0.09377	0.004	T	0.53173	-0.8476	9	0.02654	T	1	.	4.7395	0.13005	0.0:0.3561:0.0:0.6439	.	38	Q96JC4	ZN479_HUMAN	Q	38	ENSP00000333776:R38Q	ENSP00000333776:R38Q	R	-	2	0	ZNF479	57198294	0.001000	0.12720	0.503000	0.27626	0.530000	0.34684	-0.836000	0.04382	-0.139000	0.11414	-0.530000	0.04314	CGG		0.398	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202	
WBSCR17	64409	broad.mit.edu	37	7	70597882	70597882	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:70597882G>A	ENST00000333538.5	+	1	728	c.94G>A	c.(94-96)Gcg>Acg	p.A32T		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	32					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGCCCATCGCGGTGCGCAG	0.637																																						uc003tvy.2																			0				skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1)	7						c.(94-96)GCG>ACG		UDP-GalNAc:polypeptide							47.0	43.0	44.0					7																	70597882		2203	4298	6501	SO:0001583	missense	64409					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr7:70597882G>A	AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.94G>A	7.37:g.70597882G>A	ENSP00000329654:p.Ala32Thr						p.A32T	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN			1	94	+		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)	32			Lumenal (Potential).		Q8NFV9|Q9NTA8	Missense_Mutation	SNP	ENST00000333538.5	37	c.94G>A	CCDS5540.1	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620191	0.14193	.	.	ENSG00000185274	ENST00000333538	T	0.54675	0.56	4.85	1.87	0.25490	.	0.689293	0.12343	N	0.477303	T	0.20170	0.0485	N	0.02539	-0.55	0.29122	N	0.880214	B	0.02656	0.0	B	0.01281	0.0	T	0.24154	-1.0168	10	0.12103	T	0.63	.	3.1355	0.06437	0.2502:0.0:0.3929:0.3569	.	32	Q6IS24	GLTL3_HUMAN	T	32	ENSP00000329654:A32T	ENSP00000329654:A32T	A	+	1	0	WBSCR17	70235818	0.985000	0.35326	0.999000	0.59377	0.976000	0.68499	0.334000	0.19787	0.622000	0.30249	-0.244000	0.11960	GCG		0.637	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252006.1	NM_022479	
MUC17	140453	broad.mit.edu	37	7	100684511	100684511	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:100684511C>T	ENST00000306151.4	+	3	9878	c.9814C>T	c.(9814-9816)Cca>Tca	p.P3272S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3272	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					TACCAGCATGCCAACCTCAAC	0.502																																						uc003uxp.1																			0				ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(9814-9816)CCA>TCA		mucin 17 precursor							336.0	334.0	334.0					7																	100684511		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100684511C>T	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.9814C>T	7.37:g.100684511C>T	ENSP00000302716:p.Pro3272Ser					MUC17_uc010lho.1_RNA	p.P3272S	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	9867	+	Lung NSC(181;0.136)|all_lung(186;0.182)		3272			Extracellular (Potential).|Ser-rich.|53.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.9814C>T	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	6.591	0.477466	0.12521	.	.	ENSG00000169876	ENST00000306151	T	0.02216	4.39	1.25	-2.31	0.06765	.	.	.	.	.	T	0.02533	0.0077	N	0.14661	0.345	0.09310	N	1	D	0.57571	0.98	D	0.70227	0.968	T	0.29852	-0.9998	9	0.08599	T	0.76	.	2.0673	0.03605	0.2482:0.2806:0.0:0.4712	.	3272	Q685J3	MUC17_HUMAN	S	3272	ENSP00000302716:P3272S	ENSP00000302716:P3272S	P	+	1	0	MUC17	100471231	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-4.045000	0.00306	-0.659000	0.05359	0.196000	0.17591	CCA		0.502	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
FOXP2	93986	broad.mit.edu	37	7	114303551	114303551	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:114303551G>A	ENST00000393494.2	+	15	2095	c.1816G>A	c.(1816-1818)Gca>Aca	p.A606T	FOXP2_ENST00000393498.2_Missense_Mutation_p.A585T|FOXP2_ENST00000393489.3_Missense_Mutation_p.A514T|FOXP2_ENST00000350908.4_Missense_Mutation_p.A606T|FOXP2_ENST00000408937.3_Missense_Mutation_p.A631T|FOXP2_ENST00000403559.4_Missense_Mutation_p.A623T|FOXP2_ENST00000393491.3_Missense_Mutation_p.A421T|FOXP2_ENST00000393500.3_3'UTR			O15409	FOXP2_HUMAN	forkhead box P2	606					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AGGCTATGGAGCAGCTCTTAA	0.303																																						uc003vhb.2																			0				ovary(4)|pancreas(1)|lung(1)|breast(1)|skin(1)	8						c.(1816-1818)GCA>ACA		forkhead box P2 isoform I							102.0	102.0	102.0					7																	114303551		2203	4300	6503	SO:0001583	missense	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114303551G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.1816G>A	7.37:g.114303551G>A	ENSP00000377132:p.Ala606Thr					FOXP2_uc003vgu.2_RNA|FOXP2_uc003vgz.2_Missense_Mutation_p.A631T|FOXP2_uc003vha.2_Missense_Mutation_p.A514T|FOXP2_uc011kmu.1_Missense_Mutation_p.A623T|FOXP2_uc011kmv.1_Missense_Mutation_p.A605T|FOXP2_uc010ljz.1_Missense_Mutation_p.A421T|FOXP2_uc003vhe.1_Missense_Mutation_p.A176T	p.A606T	NM_014491	NP_055306	O15409	FOXP2_HUMAN			15	2190	+			606					A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	ENST00000393494.2	37	c.1816G>A	CCDS5760.1	.	.	.	.	.	.	.	.	.	.	G	4.991	0.184038	0.09495	.	.	ENSG00000128573	ENST00000393494;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000393489;ENST00000393491	D;D;D;D;D;D	0.91631	-2.54;-2.54;-2.55;-2.54;-2.63;-2.88	5.44	5.44	0.79542	.	0.099617	0.64402	D	0.000001	D	0.85388	0.5685	N	0.17474	0.49	0.80722	D	1	B;B;B;B;B	0.24823	0.001;0.001;0.112;0.001;0.007	B;B;B;B;B	0.24848	0.002;0.003;0.056;0.002;0.007	T	0.81250	-0.1018	10	0.08837	T	0.75	.	19.2883	0.94087	0.0:0.0:1.0:0.0	.	605;623;421;606;631	B7ZLK5;B4DLD9;Q0PRL4;O15409;O15409-4	.;.;.;FOXP2_HUMAN;.	T	606;631;623;606;583;514;421	ENSP00000377132:A606T;ENSP00000386200:A631T;ENSP00000385069:A623T;ENSP00000265436:A606T;ENSP00000377129:A514T;ENSP00000377130:A421T	ENSP00000265436:A606T	A	+	1	0	FOXP2	114090787	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.630000	0.83225	2.546000	0.85860	0.650000	0.86243	GCA		0.303	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491	
TMEM209	84928	broad.mit.edu	37	7	129843871	129843871	+	Missense_Mutation	SNP	A	A	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:129843871A>C	ENST00000397622.2	-	2	205	c.83T>G	c.(82-84)gTg>gGg	p.V28G	RP11-775D22.3_ENST00000483283.1_RNA|TMEM209_ENST00000336804.8_Missense_Mutation_p.V27G|TMEM209_ENST00000462753.1_Missense_Mutation_p.V27G|TMEM209_ENST00000473456.1_Missense_Mutation_p.V28G	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	28						integral component of membrane (GO:0016021)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GGCTAAGACCACTTTCCTAGC	0.408																																						uc003vpn.2																			0				ovary(2)|large_intestine(1)	3						c.(82-84)GTG>GGG		transmembrane protein 209							91.0	81.0	84.0					7																	129843871		1863	4087	5950	SO:0001583	missense	84928					integral to membrane		g.chr7:129843871A>C		CCDS47712.1, CCDS75661.1	7q32.2	2008-02-26			ENSG00000146842	ENSG00000146842			21898	protein-coding gene	gene with protein product						12958361	Standard	NM_032842		Approved	FLJ14803, NET31	uc003vpn.2	Q96SK2	OTTHUMG00000157653	ENST00000397622.2:c.83T>G	7.37:g.129843871A>C	ENSP00000380747:p.Val28Gly					TMEM209_uc010lmc.1_Missense_Mutation_p.V28G|TMEM209_uc003vpo.2_Missense_Mutation_p.V28G	p.V28G	NM_032842	NP_116231	Q96SK2	TM209_HUMAN			2	206	-	Melanoma(18;0.0435)		28			Helical; (Potential).		A4D1L1|Q49A50|Q6PF00|Q8NCH3|Q96SL6	Missense_Mutation	SNP	ENST00000397622.2	37	c.83T>G	CCDS47712.1	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777829	0.70107	.	.	ENSG00000146842	ENST00000397622;ENST00000462753;ENST00000473456;ENST00000336804;ENST00000484249;ENST00000471985;ENST00000471077	T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.55146	0.1902	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.51252	-0.8729	10	0.38643	T	0.18	-19.825	15.3831	0.74676	1.0:0.0:0.0:0.0	.	28;28;28	Q96SK2-3;Q96SK2-4;Q96SK2	.;.;TM209_HUMAN	G	28;27;28;27;28;71;27	ENSP00000380747:V28G;ENSP00000419697:V27G;ENSP00000417258:V28G;ENSP00000338388:V27G;ENSP00000419852:V71G;ENSP00000418474:V27G	ENSP00000338388:V27G	V	-	2	0	TMEM209	129631107	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	8.402000	0.90205	2.285000	0.76669	0.533000	0.62120	GTG		0.408	TMEM209-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349339.1	NM_032842	
TAS2R5	54429	broad.mit.edu	37	7	141490298	141490298	+	Frame_Shift_Del	DEL	T	T	-			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:141490298delT	ENST00000247883.4	+	1	282	c.137delT	c.(136-138)ctcfs	p.L46fs		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	46					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|sensory perception of taste (GO:0050909)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TCATATAACCTCATTATCCTG	0.468																																						uc003vwr.1																			0					0						c.(136-138)CTCfs		taste receptor T2R5							114.0	110.0	111.0					7																	141490298		2203	4300	6503	SO:0001589	frameshift_variant	54429				chemosensory behavior|sensory perception of taste		taste receptor activity	g.chr7:141490298delT	AF227132	CCDS5869.1	7q31.3-q32	2012-08-22			ENSG00000127366	ENSG00000127366		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14912	protein-coding gene	gene with protein product		605062					Standard	NM_018980		Approved	T2R5	uc003vwr.1	Q9NYW4	OTTHUMG00000157632	ENST00000247883.4:c.137delT	7.37:g.141490298delT	ENSP00000247883:p.Leu46fs						p.L46fs	NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN			1	282	+	Melanoma(164;0.0171)		46			Helical; Name=2; (Potential).		Q645W0|Q75MV7	Frame_Shift_Del	DEL	ENST00000247883.4	37	c.137delT	CCDS5869.1																																																																																				0.468	TAS2R5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349283.1		
EPHX2	2053	broad.mit.edu	37	8	27362585	27362585	+	Silent	SNP	G	G	A	rs146337543		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr8:27362585G>A	ENST00000521400.1	+	4	889	c.459G>A	c.(457-459)tcG>tcA	p.S153S	EPHX2_ENST00000518379.1_Silent_p.S153S|EPHX2_ENST00000520666.1_3'UTR|EPHX2_ENST00000517536.1_Intron|EPHX2_ENST00000521780.1_Silent_p.S87S|EPHX2_ENST00000380476.3_Silent_p.S100S	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	153	Phosphatase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		TGATAGAGTCGTGTCAGGTGG	0.547																																						uc003xfu.2																			0				ovary(1)	1						c.(457-459)TCG>TCA		epoxide hydrolase 2, cytoplasmic	Tamoxifen(DB00675)	G		1,4405	2.1+/-5.4	0,1,2202	144.0	114.0	124.0		459	-11.1	0.0	8	dbSNP_134	124	0,8600		0,0,4300	no	coding-synonymous	EPHX2	NM_001979.4		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		153/556	27362585	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2053				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	g.chr8:27362585G>A	L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.459G>A	8.37:g.27362585G>A						EPHX2_uc010lut.1_Silent_p.S153S|EPHX2_uc010luu.2_Silent_p.S153S|EPHX2_uc010luv.2_Silent_p.S87S|EPHX2_uc003xfv.2_Silent_p.S100S|EPHX2_uc010luw.2_Silent_p.S87S|EPHX2_uc011lam.1_Silent_p.S9S	p.S153S	NM_001979	NP_001970	P34913	HYES_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	4	540	+		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)	153			Phosphatase.		B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Silent	SNP	ENST00000521400.1	37	c.459G>A	CCDS6060.1	.	.	.	.	.	.	.	.	.	.	G	1.074	-0.668906	0.03403	2.27E-4	0.0	ENSG00000120915	ENST00000521684	.	.	.	5.56	-11.1	0.00147	.	.	.	.	.	T	0.45895	0.1365	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60063	-0.7336	4	.	.	.	-11.6379	8.8271	0.35061	0.1163:0.3976:0.4168:0.0693	.	.	.	.	H	153	.	.	R	+	2	0	EPHX2	27418502	0.000000	0.05858	0.028000	0.17463	0.161000	0.22273	-4.152000	0.00284	-3.109000	0.00242	-0.938000	0.02693	CGT		0.547	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219954.4		
SLC7A13	157724	broad.mit.edu	37	8	87229698	87229698	+	Splice_Site	SNP	C	C	T	rs139960114		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr8:87229698C>T	ENST00000297524.3	-	3	1283		c.e3+1		SLC7A13_ENST00000520624.1_5'Flank|SLC7A13_ENST00000419776.2_Splice_Site	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13							integral component of membrane (GO:0016021)	amino acid transmembrane transporter activity (GO:0015171)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCCAATTTTACCTTATAAGGT	0.289																																						uc003ydq.1																			0				central_nervous_system(1)	1						c.e3+1		solute carrier family 7, (cationic amino acid		C		0,4346		0,0,2173	20.0	22.0	21.0			3.2	1.0	8	dbSNP_134	21	1,8543		0,1,4271	yes	splice-5	SLC7A13	NM_138817.2		0,1,6444	TT,TC,CC		0.0117,0.0,0.0078			87229698	1,12889	2173	4272	6445	SO:0001630	splice_region_variant	157724					integral to membrane	amino acid transmembrane transporter activity	g.chr8:87229698C>T	AJ417661	CCDS34917.1	8q21.3	2013-07-15	2011-07-12		ENSG00000164893	ENSG00000164893		"""Solute carriers"""	23092	protein-coding gene	gene with protein product						11907033, 11943479	Standard	XM_005250804		Approved	AGT-1, XAT2	uc003ydq.1	Q8TCU3	OTTHUMG00000163663	ENST00000297524.3:c.1179+1G>A	8.37:g.87229698C>T						SLC7A13_uc003ydr.1_Splice_Site_p.K384_splice	p.K393_splice	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN			3	1277	-								Q05C37|Q08AH9|Q96N84	Splice_Site	SNP	ENST00000297524.3	37	c.1179_splice	CCDS34917.1	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875763	0.33162	0.0	1.17E-4	ENSG00000164893	ENST00000297524;ENST00000419776	.	.	.	5.03	3.17	0.36434	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.4894	0.38951	0.0:0.8139:0.0:0.1861	.	.	.	.	.	-1	.	.	.	-	.	.	SLC7A13	87298814	0.999000	0.42202	0.979000	0.43373	0.528000	0.34623	0.475000	0.22164	0.728000	0.32382	0.650000	0.86243	.		0.289	SLC7A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374704.1	NM_138817	Intron
DOCK8	81704	broad.mit.edu	37	9	441311	441311	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:441311A>G	ENST00000453981.1	+	41	5361	c.5249A>G	c.(5248-5250)gAg>gGg	p.E1750G	DOCK8_ENST00000382329.1_Missense_Mutation_p.E1217G|DOCK8_ENST00000469391.1_Missense_Mutation_p.E1650G|DOCK8_ENST00000432829.2_Missense_Mutation_p.E1682G			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1750	DHR-2.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACAGTTAATGAGGTCTACAAG	0.473																																						uc003zgf.2																			0				ovary(3)|central_nervous_system(3)	6						c.(5248-5250)GAG>GGG		dedicator of cytokinesis 8							106.0	100.0	102.0					9																	441311		2203	4300	6503	SO:0001583	missense	81704				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr9:441311A>G	AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.5249A>G	9.37:g.441311A>G	ENSP00000408464:p.Glu1750Gly					DOCK8_uc010mgu.2_Missense_Mutation_p.E1052G|DOCK8_uc010mgv.2_Missense_Mutation_p.E1650G|DOCK8_uc003zgk.2_Missense_Mutation_p.E1208G	p.E1750G	NM_203447	NP_982272	Q8NF50	DOCK8_HUMAN		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)	41	5361	+		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)	1750			DHR-2.		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	ENST00000453981.1	37	c.5249A>G	CCDS6440.2	.	.	.	.	.	.	.	.	.	.	A	23.5	4.428223	0.83667	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391;ENST00000382329	T;T;T;T	0.18502	2.42;2.42;2.42;2.21	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.34716	0.0907	M	0.82823	2.61	0.80722	D	1	P;P;P	0.42584	0.784;0.784;0.784	P;B;P	0.47162	0.54;0.41;0.54	T	0.18147	-1.0346	10	0.56958	D	0.05	.	15.8331	0.78773	1.0:0.0:0.0:0.0	.	1650;1217;1750	E9PH09;A2A369;Q8NF50	.;.;DOCK8_HUMAN	G	1750;1718;1682;1650;1217	ENSP00000408464:E1750G;ENSP00000394888:E1682G;ENSP00000419438:E1650G;ENSP00000371766:E1217G	ENSP00000287364:E1718G	E	+	2	0	DOCK8	431311	1.000000	0.71417	0.993000	0.49108	0.743000	0.42351	8.651000	0.91078	2.315000	0.78130	0.533000	0.62120	GAG		0.473	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171792.5	XM_036307	
UNC13B	10497	broad.mit.edu	37	9	35396552	35396552	+	Nonsense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:35396552C>A	ENST00000378495.3	+	26	3363	c.3141C>A	c.(3139-3141)taC>taA	p.Y1047*	UNC13B_ENST00000396787.1_Nonsense_Mutation_p.Y1059*|UNC13B_ENST00000481299.1_3'UTR|UNC13B_ENST00000378496.4_Nonsense_Mutation_p.Y1047*	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1047	MHD1. {ECO:0000255|PROSITE- ProRule:PRU00587}.				apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACAATGAATACGTGCGGGATC	0.552																																						uc003zwq.2																			0				ovary(3)|large_intestine(1)|skin(1)	5						c.(3139-3141)TAC>TAA		UNC13 (C. elegans)-like							111.0	92.0	98.0					9																	35396552		2203	4300	6503	SO:0001587	stop_gained	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35396552C>A	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.3141C>A	9.37:g.35396552C>A	ENSP00000367756:p.Tyr1047*					UNC13B_uc003zwr.2_Nonsense_Mutation_p.Y1047*	p.Y1047*	NM_006377	NP_006368	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		26	3433	+	all_epithelial(49;0.212)		1047			MHD1.		Q5VYM8	Nonsense_Mutation	SNP	ENST00000378495.3	37	c.3141C>A	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	41	8.961900	0.99018	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496;ENST00000535471	.	.	.	5.66	-6.86	0.01676	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-14.7012	18.4113	0.90552	0.0:0.2587:0.0:0.7413	.	.	.	.	X	1059;1047;1047;634	.	ENSP00000367756:Y1047X	Y	+	3	2	UNC13B	35386552	0.001000	0.12720	0.072000	0.20136	0.857000	0.48899	-1.491000	0.02302	-1.435000	0.01972	-1.028000	0.02416	TAC		0.552	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377	
CACNA1B	774	broad.mit.edu	37	9	140953153	140953153	+	Missense_Mutation	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:140953153A>G	ENST00000371372.1	+	29	4586	c.4441A>G	c.(4441-4443)Ata>Gta	p.I1481V	CACNA1B_ENST00000371357.1_Missense_Mutation_p.I1482V|CACNA1B_ENST00000371363.1_Missense_Mutation_p.I1481V|CACNA1B_ENST00000371355.4_Missense_Mutation_p.I1482V|CACNA1B_ENST00000277549.5_Missense_Mutation_p.I677V|CACNA1B_ENST00000277551.2_Missense_Mutation_p.I1481V	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1481					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	CATGGCCATGATAGCCCTCAA	0.562																																						uc004cog.2																			0				breast(3)|large_intestine(2)|ovary(1)	6						c.(4441-4443)ATA>GTA		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						63.0	59.0	60.0					9																	140953153		2029	4191	6220	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140953153A>G	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.4441A>G	9.37:g.140953153A>G	ENSP00000360423:p.Ile1481Val					CACNA1B_uc011mfd.1_Missense_Mutation_p.I1011V|CACNA1B_uc004coi.2_Missense_Mutation_p.I695V	p.I1481V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	29	4586	+	all_cancers(76;0.166)		1481			Helical; Name=S1 of repeat IV; (Potential).|IV.		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.4441A>G	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	A	33	5.226003	0.95173	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D;D	0.97906	-4.6;-4.6;-4.6;-4.6;-4.6;-4.6	5.47	5.47	0.80525	.	0.050906	0.85682	D	0.000000	D	0.98823	0.9603	H	0.95645	3.7	0.80722	D	1	B;D;D	0.60160	0.224;0.987;0.987	B;P;P	0.55615	0.055;0.78;0.78	D	0.99597	1.0977	10	0.87932	D	0	.	15.8881	0.79269	1.0:0.0:0.0:0.0	.	1481;1482;1481	B1AQK4;B1AQK7;B1AQK6	.;.;.	V	1481;1481;677;1481;1482;1482	ENSP00000360423:I1481V;ENSP00000277551:I1481V;ENSP00000277549:I677V;ENSP00000360414:I1481V;ENSP00000360408:I1482V;ENSP00000360406:I1482V	ENSP00000277549:I677V	I	+	1	0	CACNA1B	140072974	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	9.204000	0.95041	2.220000	0.72140	0.529000	0.55759	ATA		0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	
FAM9A	171482	broad.mit.edu	37	X	8766427	8766427	+	Missense_Mutation	SNP	G	G	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:8766427G>T	ENST00000543214.1	-	4	449	c.314C>A	c.(313-315)cCt>cAt	p.P105H	FAM9A_ENST00000381003.3_Missense_Mutation_p.P105H	NM_001171186.1	NP_001164657.1	Q8IZU1	FAM9A_HUMAN	family with sequence similarity 9, member A	105						nucleus (GO:0005634)				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				TTCAGCAAAAGGTTCTCTTTC	0.423																																						uc004csg.2																			0					0						c.(313-315)CCT>CAT		family with sequence similarity 9, member A							233.0	198.0	210.0					X																	8766427		2203	4300	6503	SO:0001583	missense	171482					nucleolus		g.chrX:8766427G>T		CCDS14131.1	Xp22.32	2012-11-29			ENSG00000183304	ENSG00000183304			18403	protein-coding gene	gene with protein product	"""testis expressed 39A"""	300477					Standard	NM_174951		Approved	TEX39A	uc004csg.3	Q8IZU1	OTTHUMG00000021110	ENST00000543214.1:c.314C>A	X.37:g.8766427G>T	ENSP00000440163:p.Pro105His						p.P105H	NM_174951	NP_777611	Q8IZU1	FAM9A_HUMAN			4	425	-		Hepatocellular(5;0.219)	105					B7ZLH5|Q2M2D1	Missense_Mutation	SNP	ENST00000543214.1	37	c.314C>A	CCDS14131.1	.	.	.	.	.	.	.	.	.	.	g	1.723	-0.496115	0.04291	.	.	ENSG00000183304	ENST00000381003;ENST00000543214	.	.	.	0.207	-0.413	0.12363	.	.	.	.	.	T	0.33702	0.0872	L	0.38175	1.15	0.09310	N	1	D	0.65815	0.995	P	0.52793	0.709	T	0.20773	-1.0265	7	0.87932	D	0	.	.	.	.	.	105	Q8IZU1	FAM9A_HUMAN	H	105	.	ENSP00000370391:P105H	P	-	2	0	FAM9A	8726427	0.042000	0.20092	0.007000	0.13788	0.007000	0.05969	-0.583000	0.05807	-0.768000	0.04626	-0.757000	0.03467	CCT		0.423	FAM9A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055697.1	NM_174951	
MED14	9282	broad.mit.edu	37	X	40562700	40562700	+	Silent	SNP	T	T	C			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:40562700T>C	ENST00000324817.1	-	11	1525	c.1407A>G	c.(1405-1407)ggA>ggG	p.G469G		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	469	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTTACCAAGTCCATAAAGCA	0.303																																						uc004dex.3																			0				breast(2)|kidney(1)|skin(1)	4						c.(1405-1407)GGA>GGG		mediator complex subunit 14							45.0	42.0	43.0					X																	40562700		2203	4300	6503	SO:0001819	synonymous_variant	9282				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:40562700T>C	AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.1407A>G	X.37:g.40562700T>C							p.G469G	NM_004229	NP_004220	O60244	MED14_HUMAN			11	1547	-			469			Interaction with STAT2.		Q4KMR7|Q9UNB3	Silent	SNP	ENST00000324817.1	37	c.1407A>G	CCDS14254.1																																																																																				0.303	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060692.1	NM_004229	
PFKFB1	5207	broad.mit.edu	37	X	54986282	54986282	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:54986282C>T	ENST00000375006.3	-	4	432	c.362G>A	c.(361-363)aGc>aAc	p.S121N	PFKFB1_ENST00000545676.1_Missense_Mutation_p.S56N|PFKFB1_ENST00000374992.2_Missense_Mutation_p.S99N	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	121	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTCCTCATGGCTGAGATAGTT	0.433																																						uc004dty.1																			0				ovary(1)	1						c.(361-363)AGC>AAC		6-phosphofructo-2-kinase/fructose-2,							45.0	40.0	42.0					X																	54986282		2203	4300	6503	SO:0001583	missense	5207				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	g.chrX:54986282C>T		CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.362G>A	X.37:g.54986282C>T	ENSP00000364145:p.Ser121Asn					PFKFB1_uc010nkd.1_Missense_Mutation_p.S107N|PFKFB1_uc011mol.1_Missense_Mutation_p.S56N	p.S121N	NM_002625	NP_002616	P16118	F261_HUMAN			4	433	-			121			6-phosphofructo-2-kinase.		B2RA88|B4DUN5|Q5JXS5|Q99951	Missense_Mutation	SNP	ENST00000375006.3	37	c.362G>A	CCDS14364.1	.	.	.	.	.	.	.	.	.	.	C	10.76	1.441597	0.25900	.	.	ENSG00000158571	ENST00000375006;ENST00000545676;ENST00000374992	.	.	.	4.95	4.09	0.47781	6-phosphofructo-2-kinase (1);	0.149549	0.56097	D	0.000036	T	0.27489	0.0675	N	0.25286	0.73	0.21105	N	0.999784	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.21008	-1.0258	9	0.66056	D	0.02	-12.3684	7.7823	0.29072	0.0:0.7484:0.1595:0.0921	.	56;99;121	B4DUN5;Q4VBA9;P16118	.;.;F261_HUMAN	N	121;56;99	.	ENSP00000364131:S99N	S	-	2	0	PFKFB1	55003007	0.035000	0.19736	0.884000	0.34674	0.023000	0.10783	2.202000	0.42743	1.014000	0.39417	-0.191000	0.12829	AGC		0.433	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056847.1		
SPIN3	169981	broad.mit.edu	37	X	57020821	57020821	+	Missense_Mutation	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:57020821C>T	ENST00000374919.3	-	2	882	c.560G>A	c.(559-561)cGc>cAc	p.R187H		NM_001010862.2	NP_001010862.2	Q5JUX0	SPIN3_HUMAN	spindlin family, member 3	187					gamete generation (GO:0007276)					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TTGAAGGATGCGGAGGTCACC	0.443																																						uc010nkj.2																			0				ovary(1)|central_nervous_system(1)	2						c.(559-561)CGC>CAC		spindlin family, member 3							81.0	79.0	80.0					X																	57020821		2113	4231	6344	SO:0001583	missense	169981				gamete generation			g.chrX:57020821C>T	AL832091	CCDS43963.1	Xp11.22	2008-02-05			ENSG00000204271	ENSG00000204271			27272	protein-coding gene	gene with protein product							Standard	NM_001010862		Approved		uc004dux.1	Q5JUX0	OTTHUMG00000021677	ENST00000374919.3:c.560G>A	X.37:g.57020821C>T	ENSP00000364054:p.Arg187His					SPIN3_uc004duu.3_Intron|SPIN3_uc004duw.3_Intron|SPIN3_uc004duv.3_Intron|SPIN3_uc004dux.1_Missense_Mutation_p.R187H	p.R187H	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN			2	846	-			187					B2RUW3|B7Z8W2|Q8N5D9	Missense_Mutation	SNP	ENST00000374919.3	37	c.560G>A	CCDS43963.1	.	.	.	.	.	.	.	.	.	.	C	0.842	-0.741696	0.03088	.	.	ENSG00000204271	ENST00000374919	T	0.47869	0.83	2.72	-1.63	0.08345	.	0.090297	0.44483	U	0.000449	T	0.28200	0.0696	L	0.37507	1.11	0.28587	N	0.909834	B	0.20887	0.049	B	0.13407	0.009	T	0.28427	-1.0044	10	0.12430	T	0.62	-0.0322	7.771	0.29008	0.0:0.5287:0.0:0.4713	.	187	Q5JUX0	SPIN3_HUMAN	H	187	ENSP00000364054:R187H	ENSP00000364054:R187H	R	-	2	0	SPIN3	57037546	1.000000	0.71417	0.001000	0.08648	0.054000	0.15201	1.095000	0.30964	-0.586000	0.05898	0.600000	0.82982	CGC		0.443	SPIN3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056908.1	XM_093024	
ZC3H12B	340554	broad.mit.edu	37	X	64722249	64722249	+	Silent	SNP	C	C	T			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:64722249C>T	ENST00000338957.4	+	5	1738	c.1671C>T	c.(1669-1671)atC>atT	p.I557I	ZC3H12B_ENST00000423889.3_Silent_p.I546I	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	557							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AACTGAACATCAACAGCATGC	0.483																																						uc010nko.2																			0				lung(1)|kidney(1)|pancreas(1)	3						c.(1636-1638)ATC>ATT		zinc finger CCCH-type containing 12B							43.0	42.0	42.0					X																	64722249		1931	4121	6052	SO:0001819	synonymous_variant	340554						endonuclease activity|nucleic acid binding|zinc ion binding	g.chrX:64722249C>T	BX647241	CCDS48131.1, CCDS48131.2	Xq12	2012-07-05	2005-06-14	2005-06-14	ENSG00000102053	ENSG00000102053		"""Zinc fingers, CCCH-type domain containing"""	17407	protein-coding gene	gene with protein product	"""MCP induced protein 2"""	300889	"""chromosome X open reading frame 32"""	CXorf32		18178554	Standard	NM_001010888		Approved	MCPIP2	uc010nko.3	Q5HYM0	OTTHUMG00000021719	ENST00000338957.4:c.1671C>T	X.37:g.64722249C>T							p.I546I	NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN			5	1647	+			546					B2RTQ3|E9PAJ6|Q5H9C0	Silent	SNP	ENST00000338957.4	37	c.1638C>T	CCDS48131.2																																																																																				0.483	ZC3H12B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378734.2	XM_293334	
TGIF2LX	90316	broad.mit.edu	37	X	89177514	89177514	+	Missense_Mutation	SNP	G	G	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:89177514G>A	ENST00000561129.2	+	1	560	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.A144T			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	144					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GTCTGTGCCGGCCAAGTCAGG	0.582																																						uc004efe.2																			0				ovary(1)|skin(1)	2						c.(430-432)GCC>ACC		TGFB-induced factor homeobox 2-like, X-linked							61.0	59.0	60.0					X																	89177514		2203	4300	6503	SO:0001583	missense	90316					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:89177514G>A	AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.430G>A	X.37:g.89177514G>A	ENSP00000453704:p.Ala144Thr						p.A144T	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN			2	479	+			144					Q5JRM9|Q8TD48	Missense_Mutation	SNP	ENST00000561129.2	37	c.430G>A	CCDS14459.1	.	.	.	.	.	.	.	.	.	.	G	8.998	0.979507	0.18812	.	.	ENSG00000153779	ENST00000283891	T	0.64803	-0.12	2.8	-1.17	0.09648	.	13.163000	0.00644	U	0.000535	T	0.58708	0.2141	M	0.77103	2.36	0.09310	N	1	P	0.45126	0.851	B	0.37550	0.253	T	0.49504	-0.8933	9	.	.	.	-2.8934	2.6371	0.04961	0.4328:0.0:0.3479:0.2194	.	144	Q8IUE1	TF2LX_HUMAN	T	144	ENSP00000355119:A144T	.	A	+	1	0	TGIF2LX	89064170	0.006000	0.16342	0.001000	0.08648	0.020000	0.10135	0.623000	0.24447	-0.469000	0.06911	0.506000	0.49869	GCC		0.582	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417911.2	NM_138960	
NRK	203447	broad.mit.edu	37	X	105181458	105181458	+	Missense_Mutation	SNP	C	C	A			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:105181458C>A	ENST00000243300.9	+	22	3986	c.3683C>A	c.(3682-3684)tCt>tAt	p.S1228Y	NRK_ENST00000428173.2_Missense_Mutation_p.S1229Y	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1228	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAACCCGATCTAATCTATAT	0.353										HNSCC(51;0.14)																												uc004emd.2																			0				breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(3682-3684)TCT>TAT		Nik related kinase							65.0	56.0	58.0					X																	105181458		1847	4079	5926	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105181458C>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3683C>A	X.37:g.105181458C>A	ENSP00000434830:p.Ser1228Tyr	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.S896Y	p.S1228Y	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			22	3986	+			1228			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.3683C>A		.	.	.	.	.	.	.	.	.	.	C	15.99	2.995799	0.54147	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.05081	3.5;3.5	5.55	3.55	0.40652	Citron-like (2);	0.000000	0.42420	D	0.000720	T	0.16128	0.0388	L	0.54323	1.7	0.09310	N	1	D;D	0.71674	0.998;0.995	D;D	0.69654	0.965;0.944	T	0.00978	-1.1493	10	0.87932	D	0	.	8.6458	0.34005	0.2708:0.5926:0.1365:0.0	.	896;1228	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	Y	1228;1229	ENSP00000434830:S1228Y;ENSP00000438378:S1229Y	ENSP00000434830:S1228Y	S	+	2	0	NRK	105068114	1.000000	0.71417	0.903000	0.35520	0.997000	0.91878	1.732000	0.38146	2.322000	0.78497	0.594000	0.82650	TCT		0.353	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465	
COL4A6	1288	broad.mit.edu	37	X	107404862	107404862	+	Silent	SNP	A	A	G			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:107404862A>G	ENST00000372216.4	-	42	4423	c.4323T>C	c.(4321-4323)ccT>ccC	p.P1441P	COL4A6_ENST00000545689.1_Silent_p.P1416P|COL4A6_ENST00000334504.7_Silent_p.P1440P|COL4A6_ENST00000418180.1_5'Flank|COL4A6_ENST00000394872.2_Silent_p.P1441P|COL4A6_ENST00000538570.1_Silent_p.P1383P	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1441	Triple-helical region.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAAATCCTGGAGGGCCTTGCA	0.607									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	uc004enw.3																			0				ovary(6)|urinary_tract(1)|large_intestine(1)	8						c.(4321-4323)CCT>CCC		type IV alpha 6 collagen isoform A precursor							31.0	35.0	34.0					X																	107404862		2202	4297	6499	SO:0001819	synonymous_variant	1288	Alport_syndrome_with_Diffuse_Leiomyomatosis	Familial Cancer Database		cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107404862A>G	U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4323T>C	X.37:g.107404862A>G						COL4A6_uc004env.3_Silent_p.P1440P|COL4A6_uc011msn.1_Silent_p.P1416P|COL4A6_uc010npk.2_Silent_p.P1383P|COL4A6_uc011msm.1_5'Flank|COL4A6_uc010npj.2_Intron	p.P1441P	NM_001847	NP_001838	Q14031	CO4A6_HUMAN			42	4426	-			1441			Triple-helical region.		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Silent	SNP	ENST00000372216.4	37	c.4323T>C	CCDS14541.1																																																																																				0.607	COL4A6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057875.2		
