#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
DGKI	9162	hgsc.bcm.edu	37	7	137080409	137080409	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr7:137080409G>A	ENST00000288490.5	-	33	3016	c.3016C>T	c.(3016-3018)Cgg>Tgg	p.R1006W	DGKI_ENST00000446122.1_Missense_Mutation_p.R988W|DGKI_ENST00000424189.2_Missense_Mutation_p.R1019W|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000453654.2_Missense_Mutation_p.R675W	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	1006					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)	p.R1006W(3)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						GCCCGGTTCCGCTGGCAGGCA	0.557																																					p.R1006W												.	.	3	Substitution - Missense(3)	kidney(2)|large_intestine(1)	c.C3016T	7						.						71.0	63.0	66.0					7																	137080409		2203	4300	6503	136730949	SO:0001583	missense	9162	exon33			AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.3016C>T	7.37:g.137080409G>A	ENSP00000288490:p.Arg1006Trp	Somatic		Capture	SOLID	Phase_I	136730949	NM_004717	A4D1Q9|Q9NZ49	Missense_Mutation	SNP	ENST00000288490.5	37	CCDS5845.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.804416	0.70682	.	.	ENSG00000157680	ENST00000453654;ENST00000540376;ENST00000424189;ENST00000288490;ENST00000446122	T;T;T	0.34667	1.35;1.35;1.35	5.35	3.37	0.38596	Ankyrin repeat-containing domain (3);	0.124923	0.53938	D	0.000050	T	0.46756	0.1409	L	0.41236	1.265	0.38761	D	0.954337	D;D	0.89917	0.999;1.0	P;D	0.70716	0.892;0.97	T	0.51132	-0.8744	10	0.66056	D	0.02	.	10.3106	0.43706	0.0:0.1257:0.6004:0.2739	.	675;1006	E9PFX6;O75912	.;DGKI_HUMAN	W	675;923;1009;1006;988	ENSP00000392161:R675W;ENSP00000288490:R1006W;ENSP00000399131:R988W	ENSP00000288490:R1006W	R	-	1	2	DGKI	136730949	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.380000	0.44327	1.317000	0.45149	0.650000	0.86243	CGG		0.557	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717	
ADCY1	107	hgsc.bcm.edu	37	7	45750182	45750182	+	Silent	SNP	C	C	T	rs199564979		TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr7:45750182C>T	ENST00000297323.7	+	19	3010	c.2988C>T	c.(2986-2988)taC>taT	p.Y996Y		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	996					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)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|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)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)	p.Y996Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGCCCCAGTACGACATCTGGG	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		17943	0.0		0.0	False		,,,				2504	0.001				p.Y996Y												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C2988T	7						.						87.0	79.0	82.0					7																	45750182		2203	4300	6503	45716707	SO:0001819	synonymous_variant	107	exon19			L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.2988C>T	7.37:g.45750182C>T		Somatic		Capture	SOLID	Phase_I	45716707	NM_021116	A4D2L8|Q75MI1	Silent	SNP	ENST00000297323.7	37	CCDS34631.1																																																																																				0.567	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116	
CLEC5A	23601	hgsc.bcm.edu	37	7	141631569	141631569	+	Missense_Mutation	SNP	G	G	T	rs140946328		TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr7:141631569G>T	ENST00000546910.1	-	6	599	c.403C>A	c.(403-405)Cgt>Agt	p.R135S	CLEC5A_ENST00000438351.1_Missense_Mutation_p.R112S|CLEC5A_ENST00000439991.1_Missense_Mutation_p.R31S|CLEC5A_ENST00000470595.1_5'UTR|CLEC5A_ENST00000551012.2_Missense_Mutation_p.R112S|MGAM_ENST00000497554.1_3'UTR	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	135	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cellular defense response (GO:0006968)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of myeloid cell apoptotic process (GO:0033033)|osteoblast development (GO:0002076)|positive regulation of cytokine secretion (GO:0050715)|response to virus (GO:0009615)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|virus receptor activity (GO:0001618)	p.R135S(1)		endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					TTCTCTTCACGATGGTAAATT	0.373																																					p.R135S	GBM(154;1592 2613 3360 42983)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C403A	7						.						183.0	167.0	173.0					7																	141631569		2203	4300	6503	141278038	SO:0001583	missense	23601	exon6				CCDS5870.1, CCDS75670.1	7q34	2012-10-03	2005-02-09	2005-02-09	ENSG00000258227	ENSG00000258227		"""C-type lectin domain containing"""	2054	protein-coding gene	gene with protein product		604987	"""C-type (calcium dependent, carbohydrate-recognition domain) lectin, superfamily member 5"""	CLECSF5		10449773	Standard	NM_013252		Approved	MDL-1	uc003vwv.1	Q9NY25	OTTHUMG00000157173	ENST00000546910.1:c.403C>A	7.37:g.141631569G>T	ENSP00000449999:p.Arg135Ser	Somatic		Capture	SOLID	Phase_I	141278038	NM_013252	Q52M11|Q9UKQ0	Missense_Mutation	SNP	ENST00000546910.1	37	CCDS5870.1	.	.	.	.	.	.	.	.	.	.	G	1.490	-0.554914	0.03967	.	.	ENSG00000258227	ENST00000546910;ENST00000551012;ENST00000439991;ENST00000438351	T;T;T;T	0.18338	2.22;2.22;2.22;2.22	5.07	-2.85	0.05734	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	2.006150	0.01702	N	0.027268	T	0.08670	0.0215	N	0.16201	0.385	0.09310	N	1	B;B;B;B	0.09022	0.0;0.002;0.002;0.002	B;B;B;B	0.10450	0.005;0.002;0.002;0.004	T	0.21245	-1.0251	10	0.10377	T	0.69	6.5189	4.3855	0.11314	0.1549:0.4914:0.2284:0.1253	.	112;112;134;135	C9JPR7;Q14DL9;Q9NY25-2;Q9NY25	.;.;.;CLC5A_HUMAN	S	135;112;31;112	ENSP00000449999:R135S;ENSP00000446890:R112S;ENSP00000395258:R31S;ENSP00000414897:R112S	ENSP00000265306:R135S	R	-	1	0	CLEC5A	141278038	0.001000	0.12720	0.000000	0.03702	0.022000	0.10575	-0.056000	0.11787	-0.406000	0.07588	-0.165000	0.13383	CGT		0.373	CLEC5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347756.1	NM_013252	
CDH26	60437	hgsc.bcm.edu	37	20	58558000	58558000	+	Missense_Mutation	SNP	G	G	A	rs138324710	byFrequency	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr20:58558000G>A	ENST00000244047.5	+	5	727	c.416G>A	c.(415-417)cGc>cAc	p.R139H	CDH26_ENST00000348616.4_Missense_Mutation_p.R139H			Q8IXH8	CAD26_HUMAN	cadherin 26	139	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R139H(2)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			GTTGTGGAGCGCTCAACAGGA	0.373													G|||	24	0.00479233	0.0	0.0231	5008	,	,		19522	0.0069		0.0	False		,,,				2504	0.001				p.R139H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G416A	20						.	G	HIS/ARG	5,4401	9.9+/-24.2	0,5,2198	161.0	162.0	162.0		416	-0.7	0.0	20	dbSNP_134	162	0,8600		0,0,4300	yes	missense	CDH26	NM_177980.2	29	0,5,6498	AA,AG,GG		0.0,0.1135,0.0384	probably-damaging	139/833	58558000	5,13001	2203	4300	6503	57991395	SO:0001583	missense	60437	exon5			AF169690, AK055202	CCDS13485.1, CCDS13486.1	20q13.33	2010-01-26	2009-11-20		ENSG00000124215	ENSG00000124215		"""Cadherins / Major cadherins"""	15902	protein-coding gene	gene with protein product			"""cadherin-like 26"""				Standard	NM_177980		Approved	VR20	uc002ybe.3	Q8IXH8	OTTHUMG00000032874	ENST00000244047.5:c.416G>A	20.37:g.58558000G>A	ENSP00000244047:p.Arg139His	Somatic		Capture	SOLID	Phase_I	57991395	NM_177980	A2A2M5|B3KNX3|Q6P5Y6|Q8TCH3|Q9BQN4|Q9NRU1	Missense_Mutation	SNP	ENST00000244047.5	37		18	0.008241758241758242	0	0.0	12	0.03314917127071823	6	0.01048951048951049	0	0.0	G	11.49	1.654657	0.29425	0.001135	0.0	ENSG00000124215	ENST00000244047;ENST00000348616	T;T	0.61392	0.11;0.11	4.86	-0.667	0.11395	.	0.515137	0.17680	N	0.165645	T	0.20659	0.0497	M	0.65320	2	0.09310	N	1	P	0.40431	0.717	B	0.36418	0.224	T	0.29488	-1.0010	10	0.72032	D	0.01	.	2.1801	0.03872	0.2128:0.1345:0.5147:0.138	.	139	Q8IXH8-4	.	H	139	ENSP00000244047:R139H;ENSP00000339390:R139H	ENSP00000244047:R139H	R	+	2	0	CDH26	57991395	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.182000	0.09726	-0.126000	0.11682	-0.782000	0.03352	CGC		0.373	CDH26-201	KNOWN	basic	protein_coding	protein_coding		NM_177980	
SMARCB1	6598	hgsc.bcm.edu	37	22	24159024	24159024	+	Silent	SNP	G	G	A	rs145934279		TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr22:24159024G>A	ENST00000263121.7	+	6	892	c.696G>A	c.(694-696)acG>acA	p.T232T	SMARCB1_ENST00000477836.1_3'UTR|SMARCB1_ENST00000344921.6_Silent_p.T241T|SMARCB1_ENST00000407082.3_Silent_p.T186T|SMARCB1_ENST00000407422.3_Silent_p.T223T	NM_003073.3	NP_003064.2	Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	232	2 X approximate tandem repeats.|HIV-1 integrase-binding.|MYC-binding.				ATP-dependent chromatin remodeling (GO:0043044)|blastocyst hatching (GO:0001835)|cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|DNA integration (GO:0015074)|DNA repair (GO:0006281)|mitotic cell cycle phase transition (GO:0044772)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)|XY body (GO:0001741)	p53 binding (GO:0002039)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)	p.?(3)|p.T232T(1)|p.E210fs*15(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				ACCCGCTGACGTTTGTGCCAG	0.537			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							g|||	1	0.000199681	0.0	0.0	5008	,	,		21151	0.0		0.001	False		,,,				2504	0.0				p.T232T		yes	Rec	yes	Rhabdoid predisposition syndrome	22	22q11	6598	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1"""		M	.	.	5	Unknown(3)|Deletion - Frameshift(1)|Substitution - coding silent(1)	central_nervous_system(3)|large_intestine(1)|soft_tissue(1)	c.G696A	22						.	G	,	0,4406		0,0,2203	134.0	116.0	122.0		669,696	-10.0	0.0	22	dbSNP_134	122	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	SMARCB1	NM_001007468.1,NM_003073.3	,	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	,	223/377,232/386	24159024	4,13002	2203	4300	6503	22489024	SO:0001819	synonymous_variant	6598	exon6			U04847	CCDS13817.1, CCDS46671.1	22q11.23	2014-09-17			ENSG00000099956	ENSG00000099956			11103	protein-coding gene	gene with protein product	"""sucrose nonfermenting, yeast, homolog-like 1"", ""integrase interactor 1"", ""malignant rhabdoid tumor suppressor"", ""protein phosphatase 1, regulatory subunit 144"""	601607		SNF5L1		7801128, 10319872, 10365963	Standard	NM_003073		Approved	BAF47, Ini1, Snr1, hSNFS, Sfh1p, RDT, PPP1R144	uc002zyb.3	Q12824	OTTHUMG00000150737	ENST00000263121.7:c.696G>A	22.37:g.24159024G>A		Somatic		Capture	SOLID	Phase_I	22489024	NM_003073	O75784|O95474|Q17S11|Q38GA1|Q76N08|Q9UBH2	Silent	SNP	ENST00000263121.7	37	CCDS13817.1																																																																																				0.537	SMARCB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319872.1	NM_003073	
PLA2G4C	8605	hgsc.bcm.edu	37	19	48551633	48551633	+	Silent	SNP	C	C	T			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr19:48551633C>T	ENST00000599921.1	-	17	1950	c.1593G>A	c.(1591-1593)ccG>ccA	p.P531P	PLA2G4C_ENST00000413144.2_Silent_p.P531P|PLA2G4C_ENST00000354276.3_3'UTR|PLA2G4C_ENST00000599111.1_Silent_p.P541P			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	531	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)	p.P531P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		CACTATCCTTCGGGTAGTAGA	0.527																																					p.P541P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1623A	19						.						103.0	78.0	87.0					19																	48551633		2203	4300	6503	53243445	SO:0001819	synonymous_variant	8605	exon17			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.1593G>A	19.37:g.48551633C>T		Somatic		Capture	SOLID	Phase_I	53243445	NM_001159322	B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	ENST00000599921.1	37	CCDS12710.1																																																																																				0.527	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1		
SCAF1	58506	hgsc.bcm.edu	37	19	50148348	50148348	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr19:50148348C>T	ENST00000360565.3	+	2	189	c.65C>T	c.(64-66)cCg>cTg	p.P22L		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	22					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA binding (GO:0003723)	p.P22L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GGCGATGGTCCGCCAGACAGA	0.617																																					p.P22L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C65T	19						.						49.0	44.0	46.0					19																	50148348		2203	4300	6503	54840160	SO:0001583	missense	58506	exon2			AK024444	CCDS33074.1	19q13.3-q13.4	2011-01-10			ENSG00000126461	ENSG00000126461			30403	protein-coding gene	gene with protein product						11461075	Standard	NM_021228		Approved	SR-A1, FLJ00034	uc002poq.3	Q9H7N4		ENST00000360565.3:c.65C>T	19.37:g.50148348C>T	ENSP00000353769:p.Pro22Leu	Somatic		Capture	SOLID	Phase_I	54840160	NM_021228	Q7Z5V7|Q8WVA1|Q9NR59	Missense_Mutation	SNP	ENST00000360565.3	37	CCDS33074.1	.	.	.	.	.	.	.	.	.	.	C	5.309	0.242323	0.10077	.	.	ENSG00000126461	ENST00000360565;ENST00000447618	T	0.58358	0.34	3.92	1.65	0.23941	.	0.000000	0.32459	U	0.006065	T	0.26702	0.0653	N	0.08118	0	0.09310	N	0.999991	B	0.14012	0.009	B	0.06405	0.002	T	0.17228	-1.0376	10	0.87932	D	0	-16.5318	4.6808	0.12734	0.0:0.6939:0.0:0.3061	.	22	Q9H7N4	SFR19_HUMAN	L	22	ENSP00000353769:P22L	ENSP00000353769:P22L	P	+	2	0	SCAF1	54840160	0.001000	0.12720	0.140000	0.22221	0.493000	0.33554	0.458000	0.21892	0.864000	0.35578	0.305000	0.20034	CCG		0.617	SCAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465764.1	NM_021228	
ASPM	259266	hgsc.bcm.edu	37	1	197059213	197059213	+	Splice_Site	SNP	C	C	T			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr1:197059213C>T	ENST00000367409.4	-	25	10087	c.9831G>A	c.(9829-9831)gaG>gaA	p.E3277E	ASPM_ENST00000294732.7_Splice_Site_p.E1692E|ASPM_ENST00000367408.1_Splice_Site_p.E942E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3277					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)		p.E3277E(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TAGTAACTACCTCTGAAAGAA	0.323																																					p.E3277E												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G9831A	1						.						60.0	66.0	64.0					1																	197059213		2203	4300	6503	195325836	SO:0001630	splice_region_variant	259266	exon25			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9830-1G>A	1.37:g.197059213C>T		Somatic		Capture	SOLID	Phase_I	195325836	NM_018136	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	CCDS1389.1																																																																																				0.323	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	Silent
GDPD5	81544	hgsc.bcm.edu	37	11	75152278	75152278	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr11:75152278G>A	ENST00000336898.3	-	14	2240	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V	GDPD5_ENST00000526177.1_Missense_Mutation_p.A330V|GDPD5_ENST00000376282.3_Missense_Mutation_p.A349V|GDPD5_ENST00000533784.1_Missense_Mutation_p.A349V|GDPD5_ENST00000529721.1_Missense_Mutation_p.A468V|GDPD5_ENST00000533805.1_Missense_Mutation_p.A223V|GDPD5_ENST00000443276.2_3'UTR	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	468	GP-PDE.				cerebral cortex neuron differentiation (GO:0021895)|glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)|negative regulation of Notch signaling pathway (GO:0045746)|neuron projection development (GO:0031175)|positive regulation of neuron differentiation (GO:0045666)|regulation of timing of cell differentiation (GO:0048505)|spinal cord motor neuron differentiation (GO:0021522)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	glycerophosphodiester phosphodiesterase activity (GO:0008889)	p.A468V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TGGGACCCCCGCACACCACAG	0.657																																					p.A468V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1403T	11						.						105.0	68.0	80.0					11																	75152278		2200	4293	6493	74829926	SO:0001583	missense	81544	exon14			AF318377	CCDS8238.1	11q13.4-q13.5	2011-01-25				ENSG00000158555			28804	protein-coding gene	gene with protein product		609632				18667693, 17275818	Standard	NM_030792		Approved	PP1665, GDE2	uc001owp.4	Q8WTR4		ENST00000336898.3:c.1403C>T	11.37:g.75152278G>A	ENSP00000337972:p.Ala468Val	Somatic		Capture	SOLID	Phase_I	74829926	NM_030792	Q49AQ5|Q6UX76|Q7Z4S0|Q8N781|Q8NCB7|Q8TB77	Missense_Mutation	SNP	ENST00000336898.3	37	CCDS8238.1	.	.	.	.	.	.	.	.	.	.	g	12.44	1.938166	0.34189	.	.	ENSG00000158555	ENST00000526177;ENST00000533784;ENST00000529721;ENST00000336898;ENST00000533805;ENST00000376282;ENST00000534322	T;T;T;T;T;T;T	0.54675	0.56;0.56;0.56;0.56;0.56;0.56;0.56	4.84	3.93	0.45458	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.567129	0.19640	N	0.109472	T	0.36717	0.0977	L	0.32530	0.975	0.32212	N	0.576458	P;B	0.40360	0.714;0.15	B;B	0.34138	0.176;0.02	T	0.45862	-0.9232	10	0.25751	T	0.34	-13.6432	11.2242	0.48873	0.0897:0.0:0.9103:0.0	.	349;468	Q8WTR4-2;Q8WTR4	.;GDPD5_HUMAN	V	330;349;468;468;223;349;52	ENSP00000434050:A330V;ENSP00000437049:A349V;ENSP00000433214:A468V;ENSP00000337972:A468V;ENSP00000435196:A223V;ENSP00000365459:A349V;ENSP00000435728:A52V	ENSP00000337972:A468V	A	-	2	0	GDPD5	74829926	0.958000	0.32768	0.015000	0.15790	0.379000	0.30106	4.329000	0.59260	1.416000	0.47057	0.645000	0.84053	GCG		0.657	GDPD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384409.1	NM_030792	
FARS2	10667	hgsc.bcm.edu	37	6	5404836	5404836	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr6:5404836C>T	ENST00000324331.6	+	3	1010	c.674C>T	c.(673-675)gCg>gTg	p.A225V	FARS2_ENST00000274680.4_Missense_Mutation_p.A225V			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	225					gene expression (GO:0010467)|phenylalanyl-tRNA aminoacylation (GO:0006432)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|phenylalanine-tRNA ligase activity (GO:0004826)|tRNA binding (GO:0000049)	p.A225V(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TCTCGCTCTGCGCATAAACAA	0.418																																					p.A225V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C674T	6						.						101.0	104.0	103.0					6																	5404836		2203	4300	6503	5349835	SO:0001583	missense	10667	exon3			AF097441	CCDS4494.1	6p25.1	2011-07-01	2007-02-23	2004-12-03	ENSG00000145982	ENSG00000145982	6.1.1.20	"""Aminoacyl tRNA synthetases / Class II"""	21062	protein-coding gene	gene with protein product	"""phenylalanine tRNA ligase 2, mitochondrial"""	611592	"""phenylalanine-tRNA synthetase 1 (mitochondrial)"""	FARS1		10329163	Standard	NM_006567		Approved	dJ236A3.1	uc003mwr.2	O95363	OTTHUMG00000014178	ENST00000324331.6:c.674C>T	6.37:g.5404836C>T	ENSP00000316335:p.Ala225Val	Somatic		Capture	SOLID	Phase_I	5349835	NM_006567	B2R664|Q53F66|Q5TCS3|Q6FG29|Q9NPY7|Q9P062	Missense_Mutation	SNP	ENST00000324331.6	37	CCDS4494.1	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587014	0.46110	.	.	ENSG00000145982	ENST00000274680;ENST00000397563;ENST00000324331;ENST00000445533	T;T;T	0.55588	0.51;0.51;0.51	5.32	4.45	0.53987	Aminoacyl-tRNA synthetase, class II (1);	0.119263	0.64402	D	0.000019	T	0.29389	0.0732	L	0.50333	1.59	0.37510	D	0.917117	B	0.14012	0.009	B	0.06405	0.002	T	0.12372	-1.0550	10	0.30078	T	0.28	-9.5933	13.0039	0.58692	0.0:0.9213:0.0:0.0787	.	225	O95363	SYFM_HUMAN	V	225;75;225;21	ENSP00000274680:A225V;ENSP00000316335:A225V;ENSP00000392525:A21V	ENSP00000274680:A225V	A	+	2	0	FARS2	5349835	0.635000	0.27199	0.347000	0.25668	0.678000	0.39670	2.906000	0.48735	1.244000	0.43870	-0.219000	0.12488	GCG		0.418	FARS2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467790.1	NM_006567	
ALOXE3	59344	hgsc.bcm.edu	37	17	8012524	8012524	+	Silent	SNP	G	G	A			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr17:8012524G>A	ENST00000448843.2	-	12	1870	c.1530C>T	c.(1528-1530)gaC>gaT	p.D510D	ALOXE3_ENST00000318227.3_Silent_p.D642D|ALOXE3_ENST00000380149.1_Silent_p.D666D	NM_021628.2	NP_067641.2	Q9BYJ1	LOXE3_HUMAN	arachidonate lipoxygenase 3	510	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|fat cell differentiation (GO:0045444)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|sensory perception of pain (GO:0019233)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)	hepoxilin A3 synthase activity (GO:0051120)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)	p.D510D(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	31						TCAGGCCGTCGTCTCGGTAGT	0.662																																					p.D642D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1926T	17						.						61.0	57.0	58.0					17																	8012524		2203	4300	6503	7953249	SO:0001819	synonymous_variant	59344	exon12			AJ269499	CCDS11130.1, CCDS54084.1	17p13.1	2009-07-10			ENSG00000179148	ENSG00000179148	1.13.11.-	"""Arachidonate lipoxygenases"""	13743	protein-coding gene	gene with protein product		607206					Standard	NM_021628		Approved	eLOX3, E-LOX	uc010vuo.2	Q9BYJ1	OTTHUMG00000108179	ENST00000448843.2:c.1530C>T	17.37:g.8012524G>A		Somatic		Capture	SOLID	Phase_I	7953249	NM_001165960	B2R981|B7Z3W0|Q3ZB74|Q9H4F2|Q9HC22	Silent	SNP	ENST00000448843.2	37	CCDS11130.1																																																																																				0.662	ALOXE3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441475.1		
COL1A1	1277	hgsc.bcm.edu	37	17	48262951	48262951	+	Missense_Mutation	SNP	C	C	T	rs149295671		TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr17:48262951C>T	ENST00000225964.5	-	51	4425	c.4307G>A	c.(4306-4308)cGc>cAc	p.R1436H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1436	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.R1436H(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	GATGGGCAGGCGGGAGGTCTT	0.602			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																														p.R1436H			Dom	yes		17	17q21.31-q22	1277	"""collagen, type I, alpha 1"""	yes	M	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G4307A	17						.	C	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	112.0	95.0	101.0		4307	4.5	1.0	17	dbSNP_134	101	0,8600		0,0,4300	no	missense	COL1A1	NM_000088.3	29	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging	1436/1465	48262951	2,13004	2203	4300	6503	45617950	SO:0001583	missense	1277	exon51			Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.4307G>A	17.37:g.48262951C>T	ENSP00000225964:p.Arg1436His	Somatic		Capture	SOLID	Phase_I	45617950	NM_000088	O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Missense_Mutation	SNP	ENST00000225964.5	37	CCDS11561.1	.	.	.	.	.	.	.	.	.	.	C	17.71	3.456816	0.63401	4.54E-4	0.0	ENSG00000108821	ENST00000225964	T	0.76060	-0.99	4.49	4.49	0.54785	Fibrillar collagen, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.90068	0.6898	H	0.95328	3.655	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.93154	0.6552	10	0.87932	D	0	.	16.098	0.81144	0.0:1.0:0.0:0.0	.	1436	P02452	CO1A1_HUMAN	H	1436	ENSP00000225964:R1436H	ENSP00000225964:R1436H	R	-	2	0	COL1A1	45617950	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.604000	0.82830	2.333000	0.79357	0.313000	0.20887	CGC		0.602	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2		
DNAH3	55567	hgsc.bcm.edu	37	16	20975977	20975977	+	Missense_Mutation	SNP	G	G	A	rs372316224		TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr16:20975977G>A	ENST00000261383.3	-	53	9228	c.9229C>T	c.(9229-9231)Cgc>Tgc	p.R3077C	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3077	AAA 5. {ECO:0000250}.				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)|microtubule motor activity (GO:0003777)	p.R3077C(2)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AAGGCCCAGCGTCTGGAATTG	0.483																																					p.R3077C												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C9229T	16						.	G	CYS/ARG	0,4402		0,0,2201	80.0	74.0	76.0		9229	4.9	1.0	16		76	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH3	NM_017539.1	180	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	3077/4117	20975977	1,13001	2201	4300	6501	20883478	SO:0001583	missense	55567	exon53			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.9229C>T	16.37:g.20975977G>A	ENSP00000261383:p.Arg3077Cys	Somatic		Capture	SOLID	Phase_I	20883478	NM_017539	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	G	16.40	3.112425	0.56398	0.0	1.16E-4	ENSG00000158486	ENST00000261383	T	0.34072	1.38	5.88	4.88	0.63580	.	0.062427	0.64402	D	0.000010	T	0.76343	0.3974	H	0.99525	4.61	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85743	0.1338	10	0.87932	D	0	.	14.1248	0.65213	0.0:0.0:0.7441:0.2559	.	3077	Q8TD57	DYH3_HUMAN	C	3077	ENSP00000261383:R3077C	ENSP00000261383:R3077C	R	-	1	0	DNAH3	20883478	1.000000	0.71417	0.983000	0.44433	0.939000	0.58152	3.322000	0.52007	2.797000	0.96272	0.561000	0.74099	CGC		0.483	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
ATP9B	374868	hgsc.bcm.edu	37	18	77067206	77067206	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr18:77067206G>A	ENST00000426216.2	+	15	1762	c.1745G>A	c.(1744-1746)cGc>cAc	p.R582H	ATP9B_ENST00000307671.7_Missense_Mutation_p.R582H	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	582					establishment of protein localization to Golgi (GO:0072600)|phospholipid translocation (GO:0045332)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.R582H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GATGAGAATCGCACCTACCAG	0.542																																					p.R582H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1745A	18						.						90.0	86.0	87.0					18																	77067206		2203	4300	6503	75168194	SO:0001583	missense	374868	exon15			R51412	CCDS12014.1	18q23	2010-04-20	2007-09-19		ENSG00000166377	ENSG00000166377		"""ATPases / P-type"""	13541	protein-coding gene	gene with protein product		614446	"""ATPase, Class II, type 9B"""			9548971, 11015572	Standard	NM_198531		Approved	ATPIIB	uc002lmx.3	O43861	OTTHUMG00000132898	ENST00000426216.2:c.1745G>A	18.37:g.77067206G>A	ENSP00000398076:p.Arg582His	Somatic		Capture	SOLID	Phase_I	75168194	NM_198531	O60872|Q08AD8|Q08AD9	Missense_Mutation	SNP	ENST00000426216.2	37	CCDS12014.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598243	0.46318	.	.	ENSG00000166377	ENST00000426216;ENST00000307671	T;T	0.62941	-0.01;-0.01	5.11	5.11	0.69529	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.113905	0.64402	D	0.000009	T	0.53449	0.1797	L	0.39326	1.205	0.80722	D	1	B;B	0.26935	0.164;0.135	B;B	0.24701	0.055;0.033	T	0.50432	-0.8829	10	0.12430	T	0.62	.	18.5263	0.90974	0.0:0.0:1.0:0.0	.	582;582	O43861;O43861-2	ATP9B_HUMAN;.	H	582	ENSP00000398076:R582H;ENSP00000304500:R582H	ENSP00000304500:R582H	R	+	2	0	ATP9B	75168194	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	9.507000	0.97996	2.373000	0.80994	0.563000	0.77884	CGC		0.542	ATP9B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256402.3	NM_198531	
SI	6476	hgsc.bcm.edu	37	3	164760868	164760868	+	Missense_Mutation	SNP	G	G	C			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr3:164760868G>C	ENST00000264382.3	-	17	2045	c.1983C>G	c.(1981-1983)aaC>aaG	p.N661K		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	661	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.N661K(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	CAGAATTATGGTTTCTGGAAA	0.358										HNSCC(35;0.089)																											p.N661K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1983G	3						.						87.0	88.0	88.0					3																	164760868		2203	4300	6503	166243562	SO:0001583	missense	6476	exon17			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.1983C>G	3.37:g.164760868G>C	ENSP00000264382:p.Asn661Lys	Somatic		Capture	SOLID	Phase_I	166243562	NM_001041	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	ENST00000264382.3	37	CCDS3196.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.334931	0.60853	.	.	ENSG00000090402	ENST00000264382	D	0.92446	-3.04	5.87	2.53	0.30540	Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	D	0.97204	0.9086	H	0.99042	4.41	0.48135	D	0.999592	D	0.89917	1.0	D	0.97110	1.0	D	0.95668	0.8721	10	0.87932	D	0	.	7.7148	0.28698	0.3972:0.0:0.6028:0.0	.	661	P14410	SUIS_HUMAN	K	661	ENSP00000264382:N661K	ENSP00000264382:N661K	N	-	3	2	SI	166243562	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	2.136000	0.42121	0.880000	0.35969	0.655000	0.94253	AAC		0.358	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350116.1	NM_001041	
NLGN1	22871	hgsc.bcm.edu	37	3	173998885	173998885	+	Missense_Mutation	SNP	G	G	A	rs527860138		TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr3:173998885G>A	ENST00000457714.1	+	7	2693	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	NLGN1_ENST00000361589.4_Missense_Mutation_p.R755Q|NLGN1_ENST00000545397.1_Missense_Mutation_p.R755Q|NLGN1_ENST00000401917.3_Missense_Mutation_p.R795Q	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	772					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.R755Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GTGGTTCTTCGGACCGCCTGT	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18182	0.0		0.0	False		,,,				2504	0.001				p.R755Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2264A	3						.						175.0	151.0	159.0					3																	173998885		2203	4300	6503	175481579	SO:0001583	missense	22871	exon7			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.2264G>A	3.37:g.173998885G>A	ENSP00000392500:p.Arg755Gln	Somatic		Capture	SOLID	Phase_I	175481579	NM_014932	Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	35	5.583377	0.96578	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.70399	-0.47;-0.47;-0.47;-0.48	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.84492	0.5484	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.70487	0.969	D	0.85217	0.1024	10	0.72032	D	0.01	.	19.9737	0.97296	0.0:0.0:1.0:0.0	.	755	Q8N2Q7-2	.	Q	755;755;755;795	ENSP00000392500:R755Q;ENSP00000354541:R755Q;ENSP00000441108:R755Q;ENSP00000385750:R795Q	ENSP00000354541:R755Q	R	+	2	0	NLGN1	175481579	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.009000	0.88606	2.793000	0.96121	0.591000	0.81541	CGG		0.458	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932	
KRAS	3845	hgsc.bcm.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											p.G12D	Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)		Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	KRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,0	.	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	c.G35A	12						.						91.0	81.0	85.0					12																	25398284		2203	4300	6503	25289551	SO:0001583	missense	3845	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	Somatic		Capture	SOLID	Phase_I	25289551	NM_004985	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
POU6F1	5463	hgsc.bcm.edu	37	12	51586185	51586185	+	Missense_Mutation	SNP	C	C	T	rs139629485	byFrequency	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr12:51586185C>T	ENST00000389243.4	-	9	1258	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	POU6F1_ENST00000333640.10_Missense_Mutation_p.A107T|POU6F1_ENST00000550824.1_Missense_Mutation_p.A107T			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	107	Gln/Pro-rich.				brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A107T(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						GATGGCTTGGCGGCTGGAGCT	0.597													C|||	2	0.000399361	0.0015	0.0	5008	,	,		16879	0.0		0.0	False		,,,				2504	0.0				p.A107T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G319A	12						.	C	THR/ALA	6,4400	11.4+/-27.6	0,6,2197	94.0	92.0	93.0		319	1.4	0.1	12	dbSNP_134	93	0,8600		0,0,4300	yes	missense	POU6F1	NM_002702.3	58	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	benign	107/302	51586185	6,13000	2203	4300	6503	49872452	SO:0001583	missense	5463	exon4			AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.319G>A	12.37:g.51586185C>T	ENSP00000373895:p.Ala107Thr	Somatic		Capture	SOLID	Phase_I	49872452	NM_002702	Q15944|Q6DK47|Q7Z7P6	Missense_Mutation	SNP	ENST00000389243.4	37	CCDS31803.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	10.47	1.358510	0.24598	0.001362	0.0	ENSG00000184271	ENST00000389243;ENST00000333640;ENST00000550824	D;D;D	0.84730	-1.89;-1.89;-1.89	5.69	1.42	0.22433	.	0.417442	0.21082	U	0.080474	T	0.73094	0.3543	L	0.39898	1.24	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.52503	-0.8567	10	0.08837	T	0.75	.	7.4781	0.27390	0.0:0.4386:0.4107:0.1507	.	107	Q14863	PO6F1_HUMAN	T	107	ENSP00000373895:A107T;ENSP00000330190:A107T;ENSP00000448389:A107T	ENSP00000330190:A107T	A	-	1	0	POU6F1	49872452	0.353000	0.24904	0.056000	0.19401	0.978000	0.69477	0.706000	0.25690	0.289000	0.22422	0.655000	0.94253	GCC		0.597	POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702	
MDM1	56890	hgsc.bcm.edu	37	12	68707265	68707265	+	Silent	SNP	G	G	C			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr12:68707265G>C	ENST00000303145.7	-	11	1763	c.1677C>G	c.(1675-1677)acC>acG	p.T559T	MDM1_ENST00000411698.2_Silent_p.T524T|MDM1_ENST00000540418.1_Silent_p.T279T	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	559					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)		p.T559T(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		AATCCTGAGAGGTCATTCTTT	0.373																																					p.T559T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1677G	12						.						87.0	92.0	90.0					12																	68707265		2203	4300	6503	66993532	SO:0001819	synonymous_variant	56890	exon11			AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.1677C>G	12.37:g.68707265G>C		Somatic		Capture	SOLID	Phase_I	66993532	NM_017440	B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Silent	SNP	ENST00000303145.7	37	CCDS8983.1																																																																																				0.373	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128	
LIN7A	8825	hgsc.bcm.edu	37	12	81205435	81205435	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr12:81205435C>T	ENST00000552864.1	-	5	713	c.511G>A	c.(511-513)Gct>Act	p.A171T		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	171	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)	p.A171T(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						AGTTCCACAGCTTTCTCATGG	0.443																																					p.A171T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G511A	12						.						129.0	111.0	117.0					12																	81205435		2203	4300	6503	79729566	SO:0001583	missense	8825	exon5			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.511G>A	12.37:g.81205435C>T	ENSP00000447488:p.Ala171Thr	Somatic		Capture	SOLID	Phase_I	79729566	NM_004664	A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	ENST00000552864.1	37	CCDS9021.1	.	.	.	.	.	.	.	.	.	.	C	34	5.380878	0.95945	.	.	ENSG00000111052	ENST00000552864	T	0.62639	0.01	5.13	5.13	0.70059	PDZ/DHR/GLGF (4);	0.101452	0.64402	D	0.000002	T	0.82061	0.4955	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85331	0.1090	10	0.87932	D	0	-8.5335	18.5807	0.91170	0.0:1.0:0.0:0.0	.	171	O14910	LIN7A_HUMAN	T	171	ENSP00000447488:A171T	ENSP00000447488:A171T	A	-	1	0	LIN7A	79729566	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.818000	0.86416	2.397000	0.81536	0.591000	0.81541	GCT		0.443	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407760.1		
PLBD2	196463	hgsc.bcm.edu	37	12	113825636	113825636	+	Silent	SNP	C	C	T	rs375994670		TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr12:113825636C>T	ENST00000280800.3	+	11	1558	c.1527C>T	c.(1525-1527)tcC>tcT	p.S509S	PLBD2_ENST00000545182.2_Silent_p.S477S	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	509					lipid catabolic process (GO:0016042)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.S509S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCGCCCGCTCCGACCTCAACC	0.612																																					p.S477S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1431T	12						.	C	,	0,4406		0,0,2203	194.0	189.0	190.0		1431,1527	-10.1	0.2	12		190	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous	PLBD2	NM_001159727.1,NM_173542.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	477/558,509/590	113825636	1,13005	2203	4300	6503	112310019	SO:0001819	synonymous_variant	196463	exon10			BC030618	CCDS9168.1, CCDS53834.1	12q24.13	2013-10-11				ENSG00000151176			27283	protein-coding gene	gene with protein product	"""PLB homolog 2 (Dictyostelium)"", ""mannose-6-phosphate protein associated protein p76"""					17105447, 15193148, 19019078	Standard	NM_001159727		Approved	p76	uc001tve.2	Q8NHP8	OTTHUMG00000169567	ENST00000280800.3:c.1527C>T	12.37:g.113825636C>T		Somatic		Capture	SOLID	Phase_I	112310019	NM_001159727	F5H5E2	Silent	SNP	ENST00000280800.3	37	CCDS9168.1																																																																																				0.612	PLBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404835.1	NM_173542	
RBPJ	3516	hgsc.bcm.edu	37	4	26432478	26432478	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr4:26432478G>A	ENST00000361572.6	+	11	1546	c.1352G>A	c.(1351-1353)cGg>cAg	p.R451Q	RBPJ_ENST00000345843.3_Missense_Mutation_p.R436Q|RBPJ_ENST00000342295.1_Missense_Mutation_p.R451Q|RBPJ_ENST00000355476.3_Missense_Mutation_p.R437Q|RBPJ_ENST00000342320.4_Missense_Mutation_p.R437Q|RBPJ_ENST00000348160.4_Missense_Mutation_p.R438Q|RBPJ_ENST00000507561.1_Missense_Mutation_p.R416Q|RBPJ_ENST00000504907.1_3'UTR			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	451					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|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)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R437Q(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CCAGGGCCGCGGCCACATTGC	0.522																																					p.R437Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1310A	4						.						58.0	62.0	60.0					4																	26432478		2203	4300	6503	26041576	SO:0001583	missense	3516	exon12			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.1352G>A	4.37:g.26432478G>A	ENSP00000354528:p.Arg451Gln	Somatic		Capture	SOLID	Phase_I	26041576	NM_203284	B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	G	19.72	3.881098	0.72294	.	.	ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000342320	T;T;T;T;T;T;T	0.37235	1.21;1.22;1.22;1.21;1.21;1.21;1.21	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.31979	0.0814	L	0.36672	1.1	0.80722	D	1	P;P;P;P	0.37864	0.476;0.61;0.61;0.476	B;B;B;B	0.32583	0.07;0.148;0.148;0.07	T	0.15607	-1.0431	10	0.62326	D	0.03	-4.8922	19.3944	0.94601	0.0:0.0:1.0:0.0	.	438;437;436;451	B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;SUH_HUMAN	Q	436;451;451;438;437;416;437	ENSP00000305815:R436Q;ENSP00000345206:R451Q;ENSP00000354528:R451Q;ENSP00000339699:R438Q;ENSP00000347659:R437Q;ENSP00000423907:R416Q;ENSP00000340124:R437Q	ENSP00000345206:R451Q	R	+	2	0	RBPJ	26041576	1.000000	0.71417	0.981000	0.43875	0.972000	0.66771	7.599000	0.82757	2.598000	0.87819	0.655000	0.94253	CGG		0.522	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874	
MAPK10	5602	hgsc.bcm.edu	37	4	87022344	87022344	+	Silent	SNP	G	G	T			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr4:87022344G>T	ENST00000359221.3	-	8	1117	c.591C>A	c.(589-591)gtC>gtA	p.V197V	MAPK10_ENST00000395169.3_Silent_p.V159V|MAPK10_ENST00000395166.1_Silent_p.V159V|MAPK10_ENST00000395157.3_Silent_p.V52V|MAPK10_ENST00000395161.2_Silent_p.V197V|MAPK10_ENST00000513839.1_5'Flank|MAPK10_ENST00000449047.2_Silent_p.V52V|MAPK10_ENST00000361569.2_Silent_p.V197V|MAPK10_ENST00000395160.3_Silent_p.V52V			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	197	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)	p.V52V(1)|p.V197V(1)		breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		AATCAGACTTGACTACAATGT	0.383																																					p.V52V												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C156A	4						.						88.0	76.0	80.0					4																	87022344		2203	4300	6503	87241368	SO:0001819	synonymous_variant	5602	exon3			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.591C>A	4.37:g.87022344G>T		Somatic		Capture	SOLID	Phase_I	87241368	NM_138981	A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Silent	SNP	ENST00000359221.3	37	CCDS34026.1	.	.	.	.	.	.	.	.	.	.	G	9.735	1.163370	0.21538	.	.	ENSG00000109339	ENST00000515400	.	.	.	5.84	-0.426	0.12314	.	.	.	.	.	T	0.52158	0.1717	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42999	-0.9418	4	.	.	.	-18.548	6.8377	0.23945	0.0688:0.4286:0.3363:0.1663	.	.	.	.	K	110	.	.	Q	-	1	0	MAPK10	87241368	0.967000	0.33354	0.999000	0.59377	0.981000	0.71138	0.100000	0.15231	0.092000	0.17331	-0.310000	0.09108	CAA		0.383	MAPK10-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000361363.2		
MAGEB4	4115	hgsc.bcm.edu	37	X	30260954	30260954	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chrX:30260954G>T	ENST00000378982.2	+	1	898	c.702G>T	c.(700-702)agG>agT	p.R234S	MAGEB1_ENST00000378981.3_5'Flank|MAGEB1_ENST00000397550.1_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	234	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.R234S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						ATGGAAAGAGGCACCTTATCT	0.483																																					p.R234S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G702T	X						.						75.0	71.0	72.0					X																	30260954		2202	4300	6502	30170875	SO:0001583	missense	4115	exon1				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.702G>T	X.37:g.30260954G>T	ENSP00000368266:p.Arg234Ser	Somatic		Capture	SOLID	Phase_I	30170875	NM_002367	B2R9G0|Q6FHH4|Q8IZ00	Missense_Mutation	SNP	ENST00000378982.2	37	CCDS14221.1	.	.	.	.	.	.	.	.	.	.	G	8.326	0.825347	0.16749	.	.	ENSG00000120289	ENST00000378982	T	0.05139	3.49	3.31	-0.574	0.11738	.	0.359519	0.23604	U	0.046410	T	0.03871	0.0109	L	0.31804	0.96	0.09310	N	1	B	0.18013	0.025	B	0.20577	0.03	T	0.35649	-0.9780	10	0.38643	T	0.18	.	2.6313	0.04945	0.4019:0.0:0.3811:0.2169	.	234	O15481	MAGB4_HUMAN	S	234	ENSP00000368266:R234S	ENSP00000368266:R234S	R	+	3	2	MAGEB4	30170875	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.859000	0.04277	-0.279000	0.09167	0.600000	0.82982	AGG		0.483	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056159.1	NM_002367	
TENM1	10178	hgsc.bcm.edu	37	X	123514919	123514919	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chrX:123514919G>A	ENST00000371130.3	-	31	7708	c.7645C>T	c.(7645-7647)Cgg>Tgg	p.R2549W	TENM1_ENST00000422452.2_Missense_Mutation_p.R2556W|STAG2_ENST00000469481.1_Intron	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2549					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R2551W(2)|p.R2551G(1)									GCAGCAAGCCGCCTGCTATCT	0.438																																					p.R2549W												.	.	3	Substitution - Missense(3)	large_intestine(2)|upper_aerodigestive_tract(1)	c.C7645T	X						.						77.0	73.0	74.0					X																	123514919		2203	4300	6503	123342600	SO:0001583	missense	10178	exon31			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.7645C>T	X.37:g.123514919G>A	ENSP00000360171:p.Arg2549Trp	Somatic		Capture	SOLID	Phase_I	123342600	NM_014253	B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104619	0.56291	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86366	-2.11;-2.08	5.83	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.92260	0.7545	M	0.63843	1.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.998;0.987	D	0.92731	0.6200	10	0.72032	D	0.01	.	15.4756	0.75478	0.0:0.0:0.8606:0.1394	.	2555;2556;2549	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	W	2549;2556	ENSP00000360171:R2549W;ENSP00000403954:R2556W	ENSP00000360171:R2549W	R	-	1	2	ODZ1	123342600	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.531000	0.67148	1.204000	0.43247	0.600000	0.82982	CGG		0.438	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253	
MSH6	2956	hgsc.bcm.edu	37	2	48018228	48018228	+	Silent	SNP	C	C	T			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr2:48018228C>T	ENST00000234420.5	+	2	575	c.423C>T	c.(421-423)ggC>ggT	p.G141G	MSH6_ENST00000540021.1_Intron|MSH6_ENST00000538136.1_5'UTR|FBXO11_ENST00000405808.1_Intron	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6	141	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				ATP catabolic process (GO:0006200)|determination of adult lifespan (GO:0008340)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|meiotic mismatch repair (GO:0000710)|mismatch repair (GO:0006298)|negative regulation of DNA recombination (GO:0045910)|positive regulation of helicase activity (GO:0051096)|reciprocal meiotic recombination (GO:0007131)|response to UV (GO:0009411)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|MutSalpha complex (GO:0032301)|nuclear chromatin (GO:0000790)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA-dependent ATPase activity (GO:0008094)|guanine/thymine mispair binding (GO:0032137)|methylated histone binding (GO:0035064)|mismatched DNA binding (GO:0030983)	p.G141G(2)|p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAACAAGGGGCTGGGTTAGCA	0.453			"""Mis, N, F, S"""		colorectal	"""colorectal, endometrial, ovarian"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																												p.G141G		yes	Rec	yes	Hereditary non-polyposis colorectal cancer	2	2p16	2956	mutS homolog 6 (E. coli)		E	MSH6,endometrium,NS,Substitution - coding silent,0	.	4	Whole gene deletion(2)|Substitution - coding silent(2)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|endometrium(1)	c.C423T	2						.						87.0	91.0	89.0					2																	48018228		2203	4300	6503	47871732	SO:0001819	synonymous_variant	2956	exon2	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U54777	CCDS1836.1, CCDS62906.1, CCDS62907.1	2p16	2014-09-17	2013-09-12		ENSG00000116062	ENSG00000116062			7329	protein-coding gene	gene with protein product		600678	"""mutS (E. coli) homolog 6"", ""mutS homolog 6 (E. coli)"""	GTBP		7604266	Standard	NM_000179		Approved		uc002rwd.4	P52701	OTTHUMG00000129129	ENST00000234420.5:c.423C>T	2.37:g.48018228C>T		Somatic		Capture	SOLID	Phase_I	47871732	NM_000179	B4DF41|B4E3I4|F5H2F9|O43706|O43917|Q8TCX4|Q9BTB5	Silent	SNP	ENST00000234420.5	37	CCDS1836.1																																																																																				0.453	MSH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251180.4	NM_000179	
C2orf66	401027	hgsc.bcm.edu	37	2	197674103	197674103	+	Silent	SNP	A	A	G			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr2:197674103A>G	ENST00000342506.2	-	1	897	c.9T>C	c.(7-9)atT>atC	p.I3I		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	3						extracellular region (GO:0005576)		p.I3I(1)		endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						GGGAGCTGTCAATGATCATTG	0.478																																					p.I3I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.T9C	2						.						126.0	117.0	120.0					2																	197674103		2203	4300	6503	197382348	SO:0001819	synonymous_variant	401027	exon1				CCDS2317.1	2q33.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000187944	ENSG00000187944			33809	protein-coding gene	gene with protein product							Standard	NM_213608		Approved	UNQ6411	uc002utv.3	Q6UXQ4	OTTHUMG00000132742	ENST00000342506.2:c.9T>C	2.37:g.197674103A>G		Somatic		Capture	SOLID	Phase_I	197382348	NM_213608	B2RNW3	Silent	SNP	ENST00000342506.2	37	CCDS2317.1																																																																																				0.478	C2orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256102.1	NM_213608	
AKAP2	11217	hgsc.bcm.edu	37	9	112918756	112918756	+	Silent	SNP	C	C	T			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr9:112918756C>T	ENST00000259318.7	+	3	2667	c.2460C>T	c.(2458-2460)cgC>cgT	p.R820R	AKAP2_ENST00000374525.1_Silent_p.R909R|PALM2-AKAP2_ENST00000302798.7_Silent_p.R1051R|AKAP2_ENST00000434623.2_Silent_p.R909R|PALM2-AKAP2_ENST00000374530.3_Silent_p.R1051R|AKAP2_ENST00000510514.5_Silent_p.R1051R|AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000555236.1_Silent_p.R1051R	NM_001136562.2	NP_001130034.1	Q9Y2D5	AKAP2_HUMAN	A kinase (PRKA) anchor protein 2	820								p.R909R(1)|p.R1051R(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	33						CTAAAAGGCGCGAGAGAATGG	0.522																																					p.R1051R												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C3153T	9						.						99.0	96.0	97.0					9																	112918756		2203	4300	6503	111958577	SO:0001819	synonymous_variant	445815	exon9			AB023137	CCDS43861.1, CCDS48003.1, CCDS56581.1	9q31.3	2009-10-16			ENSG00000241978	ENSG00000241978		"""A-kinase anchor proteins"""	372	protein-coding gene	gene with protein product	"""protein kinase A2"""	604582		PRKA2		10231032	Standard	NM_001136562		Approved	AKAP-KL, KIAA0920, DKFZp564L0716		Q9Y2D5	OTTHUMG00000156811	ENST00000259318.7:c.2460C>T	9.37:g.112918756C>T		Somatic		Capture	SOLID	Phase_I	111958577	NM_147150	B1ALX9|B2RTU4|B3KQ00|B4DTZ2|B7ZW07|B9EJB5|Q9UG26	Silent	SNP	ENST00000259318.7	37	CCDS48003.1																																																																																				0.522	AKAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346067.3	NM_001004065	
TEK	7010	hgsc.bcm.edu	37	9	27202846	27202846	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr9:27202846G>T	ENST00000380036.4	+	13	2380	c.1938G>T	c.(1936-1938)aaG>aaT	p.K646N	TEK_ENST00000406359.4_Missense_Mutation_p.K603N|TEK_ENST00000519097.1_Missense_Mutation_p.K499N	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	646	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|definitive hemopoiesis (GO:0060216)|endochondral ossification (GO:0001958)|endothelial cell proliferation (GO:0001935)|glomerulus vasculature development (GO:0072012)|heart development (GO:0007507)|heart trabecula formation (GO:0060347)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of inflammatory response (GO:0050728)|organ regeneration (GO:0031100)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|regulation of endothelial cell apoptotic process (GO:2000351)|regulation of establishment or maintenance of cell polarity (GO:0032878)|regulation of vascular permeability (GO:0043114)|response to cAMP (GO:0051591)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|sprouting angiogenesis (GO:0002040)|substrate adhesion-dependent cell spreading (GO:0034446)|Tie signaling pathway (GO:0048014)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.K646N(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)	Ponatinib(DB08901)|Regorafenib(DB08896)|Vandetanib(DB05294)	AAAACATCAAGATTTCCAACA	0.343																																					p.K646N												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1938T	9						.						137.0	137.0	137.0					9																	27202846		2203	4300	6503	27192846	SO:0001583	missense	7010	exon13			L06139	CCDS6519.1, CCDS75825.1	9p21	2013-02-11	2008-07-31		ENSG00000120156	ENSG00000120156		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11724	protein-coding gene	gene with protein product		600221	"""venous malformations, multiple cutaneous and mucosal"""	VMCM		1312667, 7833915	Standard	XM_005251561		Approved	TIE2, TIE-2, VMCM1, CD202b	uc003zqi.4	Q02763	OTTHUMG00000019712	ENST00000380036.4:c.1938G>T	9.37:g.27202846G>T	ENSP00000369375:p.Lys646Asn	Somatic		Capture	SOLID	Phase_I	27192846	NM_000459	A8K6W0|B4DH20|B4DHD3|D3DRK5|E7EWI2|Q5TCU2|Q8IV34	Missense_Mutation	SNP	ENST00000380036.4	37	CCDS6519.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.185655	0.38609	.	.	ENSG00000120156	ENST00000519097;ENST00000380036;ENST00000406359;ENST00000519080	T;T;T;T	0.58797	0.31;0.31;0.31;2.8	5.79	5.79	0.91817	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000051	T	0.41971	0.1182	N	0.14661	0.345	0.35833	D	0.825438	B;B;B;B	0.24651	0.014;0.009;0.108;0.026	B;B;B;B	0.25291	0.032;0.033;0.059;0.022	T	0.47433	-0.9118	10	0.31617	T	0.26	.	14.834	0.70169	0.0:0.0:0.8562:0.1438	.	499;679;603;646	E7EWI2;Q59HG2;B4DHD3;Q02763	.;.;.;TIE2_HUMAN	N	499;646;603;456	ENSP00000430686:K499N;ENSP00000369375:K646N;ENSP00000383977:K603N;ENSP00000428337:K456N	ENSP00000369375:K646N	K	+	3	2	TEK	27192846	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.865000	0.48412	2.737000	0.93849	0.643000	0.83706	AAG		0.343	TEK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051965.3		
KCNT1	57582	hgsc.bcm.edu	37	9	138669251	138669251	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr9:138669251C>T	ENST00000263604.3	+	21	2360	c.2360C>T	c.(2359-2361)tCg>tTg	p.S787L	KCNT1_ENST00000487664.1_Missense_Mutation_p.S761L|KCNT1_ENST00000491806.2_Missense_Mutation_p.S773L|KCNT1_ENST00000488444.2_Missense_Mutation_p.S787L|KCNT1_ENST00000298480.5_Missense_Mutation_p.S806L|KCNT1_ENST00000371757.2_Missense_Mutation_p.S806L|KCNT1_ENST00000486577.2_Missense_Mutation_p.S765L|KCNT1_ENST00000490355.2_Missense_Mutation_p.S785L			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	787					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)	p.S806L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ATCATCGTCTCGGCAGAGACG	0.597																																					p.S806L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2417T	9						.						109.0	95.0	100.0					9																	138669251		2203	4300	6503	137809072	SO:0001583	missense	57582	exon21			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.2360C>T	9.37:g.138669251C>T	ENSP00000263604:p.Ser787Leu	Somatic		Capture	SOLID	Phase_I	137809072	NM_020822	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Missense_Mutation	SNP	ENST00000263604.3	37		.	.	.	.	.	.	.	.	.	.	C	20.2	3.952191	0.73787	.	.	ENSG00000107147	ENST00000487664;ENST00000298480;ENST00000371757;ENST00000486577;ENST00000491806;ENST00000488444;ENST00000490355;ENST00000263604	T;T;T;T	0.75154	-0.91;-0.91;-0.91;-0.91	4.38	4.38	0.52667	.	0.000000	0.64402	U	0.000001	T	0.80681	0.4669	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.62365	0.973;0.985;0.991;0.973	P;P;P;P	0.55545	0.505;0.604;0.778;0.449	D	0.83659	0.0160	10	0.66056	D	0.02	-33.7199	16.9486	0.86237	0.0:1.0:0.0:0.0	.	773;806;761;787	C9JYL2;B9EGP2;G5E9V0;Q5JUK3	.;.;.;KCNT1_HUMAN	L	761;806;806;765;773;787;785;787	ENSP00000417851:S761L;ENSP00000298480:S806L;ENSP00000360822:S806L;ENSP00000263604:S787L	ENSP00000263604:S787L	S	+	2	0	KCNT1	137809072	1.000000	0.71417	0.417000	0.26559	0.320000	0.28249	7.643000	0.83403	1.976000	0.57569	0.561000	0.74099	TCG		0.597	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822	
PNPLA7	375775	hgsc.bcm.edu	37	9	140417275	140417275	+	Missense_Mutation	SNP	C	C	T	rs12788	byFrequency	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr9:140417275C>T	ENST00000277531.4	-	8	893	c.707G>A	c.(706-708)cGc>cAc	p.R236H	PNPLA7_ENST00000406427.1_Missense_Mutation_p.R261H	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	236			R -> H (in dbSNP:rs12788).		lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)	p.R236H(1)		breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GATGGCCGCGCGGACGGAGAC	0.592													C|||	59	0.0117812	0.0424	0.0043	5008	,	,		16329	0.0		0.0	False		,,,				2504	0.0				p.R236H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G707A	9						.	C	HIS/ARG,HIS/ARG	205,4201	128.2+/-165.1	1,203,1999	101.0	114.0	110.0		782,707	3.8	0.3	9	dbSNP_52	110	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	PNPLA7	NM_001098537.1,NM_152286.3	29,29	1,206,6296	TT,TC,CC		0.0349,4.6527,1.5993	probably-damaging,probably-damaging	261/1343,236/1318	140417275	208,12798	2203	4300	6503	139537096	SO:0001583	missense	375775	exon8			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.707G>A	9.37:g.140417275C>T	ENSP00000277531:p.Arg236His	Somatic		Capture	SOLID	Phase_I	139537096	NM_152286	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	ENST00000277531.4	37	CCDS7045.1	18	0.008241758241758242	17	0.034552845528455285	1	0.0027624309392265192	0	0.0	0	0.0	C	17.30	3.354239	0.61293	0.046527	3.49E-4	ENSG00000130653	ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090;ENST00000371450	D;D;D	0.93189	-3.18;-3.18;-3.18	4.77	3.85	0.44370	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.062526	0.64402	D	0.000007	D	0.82962	0.5151	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.79108	0.961;0.992	D	0.85690	0.1306	10	0.66056	D	0.02	-11.696	11.0862	0.48089	0.0:0.9053:0.0:0.0947	rs12788;rs1060336;rs3201201	261;236	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	H	236;261;236;227;261	ENSP00000277531:R236H;ENSP00000384610:R261H;ENSP00000400582:R227H	ENSP00000277531:R236H	R	-	2	0	PNPLA7	139537096	0.992000	0.36948	0.335000	0.25508	0.112000	0.19704	4.090000	0.57693	2.180000	0.69256	0.462000	0.41574	CGC		0.592	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286	
STARD13	90627	hgsc.bcm.edu	37	13	33741726	33741726	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr13:33741726C>T	ENST00000336934.5	-	2	319	c.203G>A	c.(202-204)cGt>cAt	p.R68H	STARD13_ENST00000399365.3_De_novo_Start_OutOfFrame|STARD13_ENST00000487412.1_5'UTR|STARD13_ENST00000255486.4_Missense_Mutation_p.R60H	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	68	SAM.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)	p.R68H(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CCCGGCAGCACGGAGCCAGTC	0.468																																					p.R68H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G203A	13						.						91.0	89.0	90.0					13																	33741726		2203	4300	6503	32639726	SO:0001583	missense	90627	exon2			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.203G>A	13.37:g.33741726C>T	ENSP00000338785:p.Arg68His	Somatic		Capture	SOLID	Phase_I	32639726	NM_178006	A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	ENST00000336934.5	37	CCDS9348.1	.	.	.	.	.	.	.	.	.	.	C	34	5.405286	0.96051	.	.	ENSG00000133121	ENST00000255486;ENST00000336934;ENST00000399364	D;D	0.85702	-2.02;-2.02	5.53	5.53	0.82687	Sterile alpha motif, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.92008	0.7468	M	0.71036	2.16	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.993	D;D;D;P	0.91635	0.998;0.997;0.999;0.886	D	0.92256	0.5813	10	0.62326	D	0.03	.	18.2286	0.89927	0.0:1.0:0.0:0.0	.	60;33;68;60	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	H	60;68;60	ENSP00000255486:R60H;ENSP00000338785:R68H	ENSP00000255486:R60H	R	-	2	0	STARD13	32639726	1.000000	0.71417	0.918000	0.36340	0.977000	0.68977	6.872000	0.75536	2.605000	0.88082	0.557000	0.71058	CGT		0.468	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276118.2	NM_001243466	
MYCBP2	23077	hgsc.bcm.edu	37	13	77641849	77641849	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr13:77641849T>C	ENST00000544440.2	-	71	12225	c.12208A>G	c.(12208-12210)Atg>Gtg	p.M4070V	MYCBP2_ENST00000407578.2_Missense_Mutation_p.M4108V|MYCBP2_ENST00000357337.6_Missense_Mutation_p.M4070V					MYC binding protein 2, E3 ubiquitin protein ligase									p.M4108V(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCTAGAAACATGTCCAAGATA	0.478																																					p.M4108V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A12322G	13						.						265.0	249.0	255.0					13																	77641849		2203	4300	6503	76539850	SO:0001583	missense	23077	exon71			AB020723		13q22	2012-02-23	2012-02-23		ENSG00000005810	ENSG00000005810			23386	protein-coding gene	gene with protein product		610392	"""MYC binding protein 2"""			9689053, 15057823	Standard	NM_015057		Approved	PAM, KIAA0916, FLJ10106	uc021rks.1	O75592	OTTHUMG00000017105	ENST00000544440.2:c.12208A>G	13.37:g.77641849T>C	ENSP00000444596:p.Met4070Val	Somatic		Capture	SOLID	Phase_I	76539850	NM_015057		Missense_Mutation	SNP	ENST00000544440.2	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	5.021|5.021	0.189537|0.189537	0.09547|0.09547	.|.	.|.	ENSG00000005810|ENSG00000005810	ENST00000429715|ENST00000357337;ENST00000407578;ENST00000544440	.|T;T;T	.|0.22945	.|1.94;1.93;1.94	5.95|5.95	5.95|5.95	0.96441|0.96441	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.06735|0.06735	0.0172|0.0172	N|N	0.00246|0.00246	-1.78|-1.78	0.58432|0.58432	D|D	0.999995|0.999995	.|B	.|0.14438	.|0.01	.|B	.|0.11329	.|0.006	T|T	0.37820|0.37820	-0.9689|-0.9689	5|10	.|0.02654	.|T	.|1	.|.	16.4116|16.4116	0.83717|0.83717	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|4070	.|O75592	.|MYCB2_HUMAN	R|V	490|4070;4108;4070	.|ENSP00000349892:M4070V;ENSP00000384288:M4108V;ENSP00000444596:M4070V	.|ENSP00000349892:M4070V	H|M	-|-	2|1	0|0	MYCBP2|MYCBP2	76539850|76539850	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	6.286000|6.286000	0.72665|0.72665	2.276000|2.276000	0.75962|0.75962	0.528000|0.528000	0.53228|0.53228	CAT|ATG		0.478	MYCBP2-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000045326.1	NM_015057	
ZIC2	7546	hgsc.bcm.edu	37	13	100635131	100635131	+	Silent	SNP	G	G	A			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr13:100635131G>A	ENST00000376335.3	+	1	1106	c.813G>A	c.(811-813)aaG>aaA	p.K271K		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	271					brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.K271K(1)		large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ATCCCAAGAAGAGCTGCAACA	0.582																																					p.K271K	Pancreas(97;119 1522 31925 44771 48764)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G813A	13						.						119.0	116.0	117.0					13																	100635131		2203	4300	6503	99433132	SO:0001819	synonymous_variant	7546	exon1			AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.813G>A	13.37:g.100635131G>A		Somatic		Capture	SOLID	Phase_I	99433132	NM_007129	Q5VYA9|Q9H309	Silent	SNP	ENST00000376335.3	37	CCDS9495.1																																																																																				0.582	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129	
GATA3	2625	hgsc.bcm.edu	37	10	8115907	8115907	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr10:8115907C>T	ENST00000346208.3	+	6	1708	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M	GATA3_ENST00000379328.3_Missense_Mutation_p.T419M|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3	418					anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)	p.T419M(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ATGCTGACCACGCCCACGCCG	0.627			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																														p.T418M			Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1253T	10						.						96.0	84.0	88.0					10																	8115907		2203	4300	6503	8155913	SO:0001583	missense	2625	exon6			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1253C>T	10.37:g.8115907C>T	ENSP00000341619:p.Thr418Met	Somatic		Capture	SOLID	Phase_I	8155913	NM_002051	Q5VWG7|Q5VWG8|Q96J16	Missense_Mutation	SNP	ENST00000346208.3	37	CCDS7083.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421918	0.83559	.	.	ENSG00000107485	ENST00000379328;ENST00000346208	D;D	0.96885	-4.16;-4.13	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	D	0.97617	0.9219	L	0.58101	1.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.94;0.984	D	0.97862	1.0281	10	0.56958	D	0.05	0.1626	19.5966	0.95541	0.0:1.0:0.0:0.0	.	418;419	P23771;P23771-2	GATA3_HUMAN;.	M	419;418	ENSP00000368632:T419M;ENSP00000341619:T418M	ENSP00000341619:T418M	T	+	2	0	GATA3	8155913	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.818000	0.86416	2.622000	0.88805	0.561000	0.74099	ACG		0.627	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046719.1	NM_001002295	
PANK1	53354	hgsc.bcm.edu	37	10	91348469	91348469	+	Silent	SNP	C	C	T			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr10:91348469C>T	ENST00000307534.4	-	6	1832	c.1677G>A	c.(1675-1677)ctG>ctA	p.L559L	PANK1_ENST00000322191.6_Silent_p.L275L|PANK1_ENST00000371774.2_Silent_p.L361L|PANK1_ENST00000342512.3_Silent_p.L334L	NM_148977.2	NP_683878.1	Q8TE04	PANK1_HUMAN	pantothenate kinase 1	559					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cell periphery (GO:0071944)|clathrin coat (GO:0030118)|cytosol (GO:0005829)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|pantothenate kinase activity (GO:0004594)	p.L559L(1)		cervix(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	11						TGGCATATGCCAGCAGCTTCA	0.373																																					p.L275L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G825A	10						.						88.0	84.0	85.0					10																	91348469		2203	4300	6503	91338449	SO:0001819	synonymous_variant	53354	exon5			AF355198	CCDS7405.1, CCDS7406.1, CCDS31244.1	10q23.31	2008-05-14	2002-11-13	2002-11-15	ENSG00000152782	ENSG00000152782			8598	protein-coding gene	gene with protein product		606160	"""pantothenate kinase"""	PANK		11809413	Standard	NM_148977		Approved	MGC24596, PANK1a, PANK1b	uc001kgp.2	Q8TE04	OTTHUMG00000018718	ENST00000307534.4:c.1677G>A	10.37:g.91348469C>T		Somatic		Capture	SOLID	Phase_I	91338449	NM_138316	A6NIP0|Q7RTX6|Q7Z495|Q8TBQ8	Silent	SNP	ENST00000307534.4	37	CCDS31244.1																																																																																				0.373	PANK1-201	KNOWN	basic|CCDS	protein_coding	protein_coding			
MTG1	92170	hgsc.bcm.edu	37	10	135209676	135209676	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr10:135209676T>A	ENST00000317502.6	+	3	237	c.187T>A	c.(187-189)Tca>Aca	p.S63T	MTG1_ENST00000477902.2_Missense_Mutation_p.S22T|RP11-108K14.8_ENST00000468317.2_Missense_Mutation_p.S68T	NM_138384.2	NP_612393.2	Q9BT17	MTG1_HUMAN	mitochondrial ribosome-associated GTPase 1	63	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				GTP catabolic process (GO:0006184)|regulation of mitochondrial translation (GO:0070129)|regulation of respiratory system process (GO:0044065)|ribosome biogenesis (GO:0042254)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial ribosome (GO:0005761)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.S63T(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|all cancers(32;1.69e-06)|Epithelial(32;1.94e-06)		CATCCCACTTTCAGGCCGCAA	0.468																																					p.S63T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T187A	10						.						198.0	208.0	204.0					10																	135209676		2203	4300	6503	135059666	SO:0001583	missense	92170	exon3				CCDS31320.1	10q26.3	2013-05-24	2013-05-24	2006-01-09	ENSG00000148824	ENSG00000148824			32159	protein-coding gene	gene with protein product			"""GTP-binding protein 7"", ""GTP-binding protein 7 (putative)"", ""mitochondrial GTPase 1 homolog (S. cerevisiae)"""	GTPBP7		12808030, 23396448	Standard	NM_138384		Approved		uc001lnd.3	Q9BT17	OTTHUMG00000166564	ENST00000317502.6:c.187T>A	10.37:g.135209676T>A	ENSP00000323047:p.Ser63Thr	Somatic		Capture	SOLID	Phase_I	135059666	NM_138384	Q5VWX8|Q6PIY9|Q8IYJ4|Q8NC48|Q9BVU8	Missense_Mutation	SNP	ENST00000317502.6	37	CCDS31320.1	.	.	.	.	.	.	.	.	.	.	t	15.55	2.866405	0.51588	.	.	ENSG00000254536;ENSG00000148824;ENSG00000148824;ENSG00000148824	ENST00000468317;ENST00000317502;ENST00000432508;ENST00000537620	T;T;T	0.13657	2.57;2.57;2.57	5.4	4.24	0.50183	.	4.888220	0.00424	N	0.000066	T	0.23649	0.0572	M	0.68728	2.09	0.51482	D	0.999929	B	0.18310	0.027	B	0.22152	0.038	T	0.13415	-1.0510	10	0.62326	D	0.03	-1.9895	10.6348	0.45558	0.0:0.0:0.1614:0.8386	.	63	Q9BT17	MTG1_HUMAN	T	68;63;63;22	ENSP00000436767:S68T;ENSP00000323047:S63T;ENSP00000393480:S63T	ENSP00000323047:S63T	S	+	1	0	AL360181.1;MTG1	135059666	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	6.391000	0.73208	0.851000	0.35264	0.391000	0.25812	TCA		0.468	MTG1-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051166.1	NM_138384	
CDH18	1016	hgsc.bcm.edu	37	5	19612577	19612577	+	Silent	SNP	G	G	A			TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	.			Illumina GAIIx	TCGA-AA-A00Q-01A-01W-A005-10	TCGA-AA-A00Q-10A-01W-A005-10	g.chr5:19612577G>A	ENST00000507958.1	-	8	1767	c.777C>T	c.(775-777)acC>acT	p.T259T	CDH18_ENST00000506372.1_Silent_p.T259T|CDH18_ENST00000511273.1_Silent_p.T259T|CDH18_ENST00000274170.4_Silent_p.T259T|CDH18_ENST00000502796.1_Silent_p.T259T|CDH18_ENST00000382275.1_Silent_p.T259T			Q13634	CAD18_HUMAN	cadherin 18, type 2	259	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T259T(4)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CATTGACATCGGTTAAGGTGA	0.393																																					p.T259T												.	.	4	Substitution - coding silent(4)	large_intestine(2)|skin(2)	c.C777T	5						.						212.0	190.0	197.0					5																	19612577		2203	4300	6503	19648334	SO:0001819	synonymous_variant	1016	exon6			U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.777C>T	5.37:g.19612577G>A		Somatic		Capture	SOLID	Phase_I	19648334	NM_004934	A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	CCDS3889.1																																																																																				0.393	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934	
