#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
UBE4B	10277	broad.mit.edu	37	1	10192468	10192468	+	Silent	SNP	C	C	G			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:10192468C>G	ENST00000253251.8	+	14	2405	c.1566C>G	c.(1564-1566)ggC>ggG	p.G522G	UBE4B_ENST00000343090.6_Silent_p.G651G|UBE4B_ENST00000377157.3_Silent_p.G406G|UBE4B_ENST00000475795.1_3'UTR					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGTTAAATGGCGAAACCCGTG	0.373																																						uc021ogc.1																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2104-2106)ggC>ggG		Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.							70.0	73.0	72.0					1																	10192468		2203	4300	6503	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10192468C>G	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1566C>G	1.37:g.10192468C>G						UBE4B_uc001aqs.4_Silent_p.G651G|UBE4B_uc001aqr.4_Silent_p.G522G|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.G106G	p.G702G	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	15	2794	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	651						Silent	SNP	ENST00000253251.8	37	c.2106C>G	CCDS110.1																																																																																				0.373	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048	
GRIK3	2899	broad.mit.edu	37	1	37307528	37307528	+	Missense_Mutation	SNP	C	C	T	rs114307108		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:37307528C>T	ENST00000373091.3	-	10	1355	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I	GRIK3_ENST00000373093.4_Missense_Mutation_p.V447I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	447					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CGAAACATGACGAAGGGCTCC	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20945	0.0		0.0	False		,,,				2504	0.0					uc001caz.2																			0				breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89						c.(1339-1341)Gtc>Atc		Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	L-Glutamic Acid(DB00142)	C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	126.0	115.0	119.0		1339	4.9	1.0	1	dbSNP_132	119	1,8599	1.2+/-3.3	0,1,4299	yes	missense	GRIK3	NM_000831.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	447/920	37307528	2,13004	2203	4300	6503	SO:0001583	missense	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37307528C>T	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.1339G>A	1.37:g.37307528C>T	ENSP00000362183:p.Val447Ile					GRIK3_uc001cba.1_Missense_Mutation_p.V447I	p.V447I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			9	1474	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	447					A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	SNP	ENST00000373091.3	37	c.1339G>A	CCDS416.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	18.52	3.641349	0.67244	2.27E-4	1.16E-4	ENSG00000163873	ENST00000373091;ENST00000373093	T;T	0.78595	-1.19;-1.19	4.95	4.95	0.65309	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	D	0.84343	0.5451	L	0.42744	1.35	0.48236	D	0.99961	D;D	0.76494	0.999;0.999	D;D	0.70227	0.968;0.968	D	0.85997	0.1492	10	0.72032	D	0.01	.	18.5686	0.91126	0.0:1.0:0.0:0.0	.	447;447	A9Z1Z8;Q13003	.;GRIK3_HUMAN	I	447	ENSP00000362183:V447I;ENSP00000362185:V447I	ENSP00000362183:V447I	V	-	1	0	GRIK3	37080115	1.000000	0.71417	0.991000	0.47740	0.215000	0.24574	7.776000	0.85560	2.446000	0.82766	0.655000	0.94253	GTC		0.577	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831	
MROH7	374977	broad.mit.edu	37	1	55148429	55148429	+	Missense_Mutation	SNP	G	G	A	rs367669775		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:55148429G>A	ENST00000421030.2	+	14	2767	c.2482G>A	c.(2482-2484)Gtc>Atc	p.V828I	MROH7-TTC4_ENST00000414150.2_Missense_Mutation_p.V828I|MROH7_ENST00000454855.2_Missense_Mutation_p.V346I|MROH7_ENST00000395690.2_Missense_Mutation_p.V828I|MROH7_ENST00000409996.1_Missense_Mutation_p.V396I|MROH7_ENST00000545244.1_Missense_Mutation_p.V396I|MROH7_ENST00000339553.5_Missense_Mutation_p.V828I	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7	828						extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											GGAGAAGCCCGTCACCAAGGA	0.622																																						uc010ooe.1																			0				breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(2482-2484)Gtc>Atc		Homo sapiens HEAT repeat containing 8 (HEATR8), transcript variant 1, mRNA.		A	ILE/VAL	0,4046		0,0,2023	54.0	56.0	55.0		2482	2.3	0.8	1		55	1,8369		0,1,4184	no	missense	HEATR8	NM_001039464.2	29	0,1,6207	AA,AG,GG		0.0119,0.0,0.0081	benign	828/1324	55148429	1,12415	2023	4185	6208	SO:0001583	missense	374977					integral to membrane	binding	g.chr1:55148429G>A	AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2482G>A	1.37:g.55148429G>A	ENSP00000396622:p.Val828Ile					HEATR8_uc001cxq.3_Non-coding_Transcript|HEATR8_uc010ooc.1_Missense_Mutation_p.V396I|HEATR8_uc010ood.1_Missense_Mutation_p.V346I|HEATR8_uc001cxs.2_Non-coding_Transcript|HEATR8_uc010oof.1_Non-coding_Transcript|HEATR8_uc001cxr.1_Non-coding_Transcript|HEATR8_uc010oog.1_Missense_Mutation_p.V828I|HEATR8_uc010ooh.1_Non-coding_Transcript|HEATR8_uc009vzq.1_Intron|HEATR8_uc001cxt.1_Non-coding_Transcript|HEATR8_uc009vzr.1_Missense_Mutation_p.V30I	p.V828I	NM_001039464	NP_001034553	Q68CQ1	HEAT8_HUMAN			13	2806	+			828					A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Missense_Mutation	SNP	ENST00000421030.2	37	c.2482G>A	CCDS41342.2	.	.	.	.	.	.	.	.	.	.	g	7.100	0.573946	0.13623	0.0	1.19E-4	ENSG00000184313	ENST00000421030;ENST00000545244;ENST00000414867;ENST00000339553;ENST00000409996;ENST00000454855;ENST00000395690	T;T;T;T;T;T	0.03982	4.79;3.74;4.24;4.54;4.42;4.24	4.25	2.34	0.29019	Armadillo-type fold (1);	0.753201	0.11320	N	0.576131	T	0.03348	0.0097	L	0.33485	1.01	0.09310	N	0.999993	B;B;B;B	0.33494	0.37;0.414;0.032;0.37	B;B;B;B	0.21708	0.036;0.023;0.008;0.033	T	0.45483	-0.9258	10	0.25106	T	0.35	-8.5791	5.4036	0.16308	0.1049:0.0:0.6974:0.1977	.	828;828;396;828	F8W8P2;Q68CQ1;F5H7R4;Q68CQ1-9	.;HEAT8_HUMAN;.;.	I	828;396;857;828;396;346;828	ENSP00000396622:V828I;ENSP00000442333:V396I;ENSP00000343211:V828I;ENSP00000387048:V396I;ENSP00000401130:V346I;ENSP00000379044:V828I	ENSP00000343211:V828I	V	+	1	0	HEATR8	54921017	0.196000	0.23350	0.753000	0.31225	0.254000	0.26022	0.258000	0.18387	0.529000	0.28599	-0.355000	0.07637	GTC		0.622	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346978.1	NM_198547	
COL24A1	255631	broad.mit.edu	37	1	86340334	86340334	+	Missense_Mutation	SNP	G	G	A	rs538248306		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:86340334G>A	ENST00000370571.2	-	35	3502	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	COL24A1_ENST00000436319.1_Missense_Mutation_p.R1046W	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1046	Collagen-like 9.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCACTCACCCGTAAACCTGGT	0.408																																						uc001dlj.3																			0				NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101						c.(3136-3138)Cgg>Tgg		Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.							57.0	55.0	56.0					1																	86340334		1860	4092	5952	SO:0001583	missense	255631				cell adhesion	collagen	extracellular matrix structural constituent	g.chr1:86340334G>A	AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.3136C>T	1.37:g.86340334G>A	ENSP00000359603:p.Arg1046Trp					COL24A1_uc001dli.3_Missense_Mutation_p.R182W|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R346W|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	p.R1046W	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN		all cancers(265;0.0627)|Epithelial(280;0.0689)	34	3211	-			1046			Collagen-like 9.		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	ENST00000370571.2	37	c.3136C>T	CCDS41353.1	.	.	.	.	.	.	.	.	.	.	G	8.764	0.924331	0.18056	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	D;D	0.93906	-3.31;-3.31	5.53	2.3	0.28687	.	0.000000	0.36268	N	0.002697	D	0.96506	0.8860	M	0.93283	3.4	0.44555	D	0.997514	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96459	0.9340	10	0.87932	D	0	.	11.0041	0.47624	0.0:0.0:0.4128:0.5872	.	1046;1046	Q17RW2;Q17RW2-2	COOA1_HUMAN;.	W	1046	ENSP00000359603:R1046W;ENSP00000392531:R1046W	ENSP00000359603:R1046W	R	-	1	2	COL24A1	86112922	0.992000	0.36948	0.624000	0.29186	0.108000	0.19459	2.417000	0.44653	0.673000	0.31224	-0.182000	0.12963	CGG		0.408	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029335.4	NM_152890	
CFHR2	3080	broad.mit.edu	37	1	196884116	196884116	+	Intron	SNP	C	C	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:196884116C>A	ENST00000367421.3	+	2	135				CFHR4_ENST00000367418.2_Missense_Mutation_p.P216H|CFHR4_ENST00000367416.2_Missense_Mutation_p.P462H|CFHR4_ENST00000608469.1_Missense_Mutation_p.P86H|CFHR4_ENST00000251424.4_Missense_Mutation_p.P216H			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						CCTCCTCCACCTATTAGCAAT	0.378																																						uc001gtp.3																			0				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1387-1389)cCt>cAt		Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.							46.0	47.0	47.0					1																	196884116		2198	4277	6475	SO:0001627	intron_variant	10877				complement activation, alternative pathway	extracellular space		g.chr1:196884116C>A	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-34469C>A	1.37:g.196884116C>A						CFH_uc021pgt.1_Missense_Mutation_p.P86H|CFH_uc009wyy.3_Missense_Mutation_p.P462H|CFH_uc001gto.3_Missense_Mutation_p.P216H	p.P463H	NM_001201550	NP_001188479	P08603	CFAH_HUMAN			8	1525	+			816			Sushi 8.		Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.1388C>A		.	.	.	.	.	.	.	.	.	.	C	11.53	1.666470	0.29604	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000251424;ENST00000538553	T;T;T	0.65549	-0.16;-0.16;-0.16	3.16	2.19	0.27852	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.75406	0.3845	M	0.79805	2.47	0.09310	N	1	D;D;D	0.89917	0.993;1.0;1.0	P;D;D	0.76071	0.862;0.987;0.974	T	0.60110	-0.7327	9	0.46703	T	0.11	.	6.7151	0.23298	0.0:0.8427:0.0:0.1573	.	462;463;216	C9J7J7;Q5DVJ7;Q92496	.;.;FHR4_HUMAN	H	462;216;216;216	ENSP00000356386:P462H;ENSP00000356388:P216H;ENSP00000251424:P216H	ENSP00000251424:P216H	P	+	2	0	CFHR4	195150739	0.001000	0.12720	0.181000	0.23098	0.334000	0.28698	0.584000	0.23864	1.474000	0.48178	0.197000	0.17608	CCT		0.378	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666	
CENPF	1063	broad.mit.edu	37	1	214815836	214815836	+	Silent	SNP	C	C	T	rs139914723		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:214815836C>T	ENST00000366955.3	+	12	4323	c.4155C>T	c.(4153-4155)gaC>gaT	p.D1385D		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTCCATTGGACGAGAGTAATT	0.423													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21512	0.0		0.0	False		,,,				2504	0.0				Colon(80;575 1284 11000 14801 43496)	uc001hkm.3																			0				NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126						c.(4153-4155)gaC>gaT		Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.							50.0	47.0	48.0					1																	214815836		2203	4300	6503	SO:0001819	synonymous_variant	1063				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	g.chr1:214815836C>T	U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.4155C>T	1.37:g.214815836C>T							p.D1385D	NM_016343	NP_057427	P49454	CENPF_HUMAN		all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)	11	4329	+			1482					Q13171|Q13246|Q5VVM7	Silent	SNP	ENST00000366955.3	37	c.4155C>T	CCDS31023.1																																																																																				0.423	CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
RBP3	5949	broad.mit.edu	37	10	48389546	48389546	+	Silent	SNP	G	G	A	rs200626545		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:48389546G>A	ENST00000224600.4	-	1	1445	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	444	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)	p.F444F(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAAAACTATCGAAGCGCAGGT	0.617																																						uc001jez.3																			1	Substitution - coding silent(1)	p.F444F(2)	lung(1)	central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59						c.(1330-1332)ttC>ttT		Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	Vitamin A(DB00162)						68.0	59.0	62.0					10																	48389546		2203	4300	6503	SO:0001819	synonymous_variant	5949				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	g.chr10:48389546G>A	M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.1332C>T	10.37:g.48389546G>A							p.F444F	NM_002900	NP_002891	P10745	RET3_HUMAN			0	1446	-			444			4 X approximate tandem repeats.		Q0QD34|Q5VSR0|Q8IXN0	Silent	SNP	ENST00000224600.4	37	c.1332C>T	CCDS7218.1																																																																																				0.617	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047888.1	NM_002900	
PTEN	5728	broad.mit.edu	37	10	89711988	89711989	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:89711988_89711989delTA	ENST00000371953.3	+	6	1963_1964	c.606_607delTA	c.(604-609)actattfs	p.I203fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	203	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.I203fs*39(1)|p.G165_*404del(1)|p.I203fs*18(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTTTGAAACTATTCCAATGTT	0.371		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.3		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	"""D, Mis, N, F, S"""	phosphatase and tensin homolog gene			"""L, E, M, O"""		"""harmartoma, glioma,  prostate, endometrial"""	"""glioma,  prostate, endometrial"""		54	Whole gene deletion(37)|Deletion - Frameshift(12)|Unknown(4)|Deletion - In frame(1)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.I203fs*39(2)|p.Y27fs*1(2)|p.I203fs*18(2)|p.Y27_N212>Y(2)|p.T202I(1)|p.T202fs*19(1)|p.G165_K342del(1)|p.G165_*404del(1)	prostate(16)|central_nervous_system(14)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771						c.(604-609)actattfs		Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.																																				SO:0001589	frameshift_variant	5728	Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89711988_89711989delTA	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.606_607delTA	10.37:g.89711988_89711989delTA	ENSP00000361021:p.Ile203fs	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)				PTEN_uc021pvw.1_Non-coding_Transcript	p.T202fs	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	5	1638_1639	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	202			C2 tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	c.606_607delTA	CCDS31238.1																																																																																				0.371	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
CTBP2	1488	broad.mit.edu	37	10	126691658	126691658	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:126691658C>T	ENST00000337195.5	-	5	628	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	CTBP2_ENST00000531469.1_Missense_Mutation_p.V77M|CTBP2_ENST00000334808.6_Missense_Mutation_p.V145M|CTBP2_ENST00000411419.2_Missense_Mutation_p.V77M|CTBP2_ENST00000309035.6_Missense_Mutation_p.V617M|CTBP2_ENST00000494626.2_Missense_Mutation_p.V77M	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	77					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ATGGCGCCCACGGCTTCGTTT	0.627																																						uc009yak.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(229-231)Gtg>Atg		Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.							74.0	60.0	65.0					10																	126691658		2203	4300	6503	SO:0001583	missense	1488				negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding	g.chr10:126691658C>T	AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.229G>A	10.37:g.126691658C>T	ENSP00000338615:p.Val77Met					CTBP2_uc009yal.3_Missense_Mutation_p.V77M|CTBP2_uc001lif.4_Missense_Mutation_p.V77M|CTBP2_uc001lih.4_Missense_Mutation_p.V77M|CTBP2_uc001lid.4_Missense_Mutation_p.V145M|CTBP2_uc001lie.4_Missense_Mutation_p.V617M	p.V77M	NM_001329	NP_001320	P56545	CTBP2_HUMAN		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)	4	516	-		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)	77					A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	ENST00000337195.5	37	c.229G>A	CCDS7643.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662409	0.67700	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.57752	0.38;0.38;0.38;0.38;0.38;0.38	4.68	4.68	0.58851	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	M	0.79475	2.455	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	P;D;P	0.64410	0.799;0.925;0.799	T	0.77067	-0.2725	10	0.66056	D	0.02	.	17.9557	0.89068	0.0:1.0:0.0:0.0	.	77;617;145	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	M	77;617;145;77;77;77	ENSP00000338615:V77M;ENSP00000311825:V617M;ENSP00000357816:V145M;ENSP00000434630:V77M;ENSP00000436285:V77M;ENSP00000410474:V77M	ENSP00000311825:V617M	V	-	1	0	CTBP2	126681648	1.000000	0.71417	0.624000	0.29186	0.198000	0.23893	7.818000	0.86416	2.317000	0.78254	0.561000	0.74099	GTG		0.627	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050900.3	NM_001083914	
OR5M9	390162	broad.mit.edu	37	11	56230656	56230656	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr11:56230656G>A	ENST00000279791.1	-	1	221	c.222C>T	c.(220-222)aaC>aaT	p.N74N		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGGGGGTAACGTTGGAGGAGA	0.438																																						uc010rjj.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36						c.(220-222)aaC>aaT		Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.							86.0	88.0	87.0					11																	56230656		2201	4296	6497	SO:0001819	synonymous_variant	390162				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56230656G>A	AB065747	CCDS31531.1	11q11	2012-08-09			ENSG00000150269	ENSG00000150269		"""GPCR / Class A : Olfactory receptors"""	15294	protein-coding gene	gene with protein product							Standard	NM_001004743		Approved		uc010rjj.2	Q8NGP3	OTTHUMG00000166874	ENST00000279791.1:c.222C>T	11.37:g.56230656G>A						OR8U8_uc001nit.2_Intron	p.N74N	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN			0	222	-	Esophageal squamous(21;0.00448)		74					Q6IEW5|Q96RB9	Silent	SNP	ENST00000279791.1	37	c.222C>T	CCDS31531.1																																																																																				0.438	OR5M9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391638.1	NM_001004743	
B4GALNT3	283358	broad.mit.edu	37	12	657400	657400	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:657400C>T	ENST00000266383.5	+	9	803	c.790C>T	c.(790-792)Cga>Tga	p.R264*	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	264					metabolic process (GO:0008152)	Golgi cisterna membrane (GO:0032580)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity (GO:0033842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTTCCAGTGGCGACGGAACGA	0.582																																						uc001qii.1																			0				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(790-792)Cga>Tga		Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.							127.0	99.0	109.0					12																	657400		2203	4300	6503	SO:0001587	stop_gained	283358					Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	g.chr12:657400C>T	AB089940	CCDS8504.1	12p13.33	2013-02-19			ENSG00000139044	ENSG00000139044	2.4.1.-	"""Beta 4-glycosyltransferases"""	24137	protein-coding gene	gene with protein product		612220				12966086	Standard	NM_173593		Approved	B4GalNac-T3, FLJ16224, FLJ40362	uc001qii.1	Q6L9W6	OTTHUMG00000129283	ENST00000266383.5:c.790C>T	12.37:g.657400C>T	ENSP00000266383:p.Arg264*					B4GALNT3_uc001qij.1_Nonsense_Mutation_p.R166*	p.R264*	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)		8	790	+	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		264					Q6ZNC1|Q8N7T6	Nonsense_Mutation	SNP	ENST00000266383.5	37	c.790C>T	CCDS8504.1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.396368	0.62177	.	.	ENSG00000139044	ENST00000266383;ENST00000322843	.	.	.	5.24	3.34	0.38264	.	0.228496	0.38778	N	0.001568	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.8307	8.0176	0.30389	0.3527:0.5677:0.0:0.0796	.	.	.	.	X	264;166	.	ENSP00000266383:R264X	R	+	1	2	B4GALNT3	527661	1.000000	0.71417	0.992000	0.48379	0.385000	0.30292	1.776000	0.38594	0.530000	0.28619	0.561000	0.74099	CGA		0.582	B4GALNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251406.2	NM_173593	
CHD4	1108	broad.mit.edu	37	12	6691851	6691851	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:6691851G>A	ENST00000357008.2	-	29	4463	c.4300C>T	c.(4300-4302)Cca>Tca	p.P1434S	CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000309577.6_Missense_Mutation_p.P1462S|RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000544040.1_Missense_Mutation_p.P1427S|CHD4_ENST00000544484.1_Missense_Mutation_p.P1459S|SCARNA11_ENST00000516089.1_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1434					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						TCCTGAGGTGGCATACCATAT	0.473																																					Colon(32;586 792 4568 16848 45314)	uc001qpq.1																			0											c.(52-54)tgG>tgA		Homo sapiens cDNA FLJ39076 fis, clone NT2RP7017567.							157.0	161.0	160.0					12																	6691851		2203	4300	6503	SO:0001583	missense	1108							g.chr12:6691851G>A	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4300C>T	12.37:g.6691851G>A	ENSP00000349508:p.Pro1434Ser					CHD4_uc001qpn.3_Missense_Mutation_p.P1427S|CHD4_uc001qpo.3_Missense_Mutation_p.P1434S|CHD4_uc001qpp.3_Missense_Mutation_p.P1459S|SCARNA11_uc001qpr.1_5'Flank	p.W18*							1	142	+								Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.54G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871770	0.72180	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.93366	-3.21;-2.94;-3.21;-2.93	5.64	5.64	0.86602	Domain of unknown function DUF1086 (1);	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	M	0.80847	2.515	0.80722	D	1	P;P;D	0.67145	0.945;0.786;0.996	P;P;D	0.78314	0.641;0.685;0.991	D	0.97011	0.9736	10	0.72032	D	0.01	-4.1915	19.7156	0.96119	0.0:0.0:1.0:0.0	.	1462;1434;1427	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	S	1459;1427;1462;1434;1408	ENSP00000440392:P1459S;ENSP00000440542:P1427S;ENSP00000312419:P1462S;ENSP00000349508:P1434S	ENSP00000312419:P1462S	P	-	1	0	CHD4	6562112	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.441000	0.97557	2.658000	0.90341	0.655000	0.94253	CCA		0.473	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273	
PIK3C2G	5288	broad.mit.edu	37	12	18716419	18716419	+	Silent	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:18716419C>T	ENST00000266497.5	+	26	3804	c.3766C>T	c.(3766-3768)Ctg>Ttg	p.L1256L	PIK3C2G_ENST00000433979.1_Silent_p.L1256L|PIK3C2G_ENST00000538779.1_Silent_p.L1297L			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1256	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTTTGCATCACTGACTCTCCC	0.398																																						uc001rdt.3																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(3766-3768)Ctg>Ttg		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							74.0	71.0	72.0					12																	18716419		1895	4128	6023	SO:0001819	synonymous_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18716419C>T	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3766C>T	12.37:g.18716419C>T						PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.L1297L|PIK3C2G_uc010sic.2_Silent_p.L1075L	p.L1256L	NM_004570	NP_004561	O75747	P3C2G_HUMAN			26	3882	+		Hepatocellular(102;0.194)	1256			PX.		A1L3U0	Silent	SNP	ENST00000266497.5	37	c.3766C>T	CCDS44839.1																																																																																				0.398	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	
PDE3A	5139	broad.mit.edu	37	12	20522696	20522696	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:20522696G>A	ENST00000359062.3	+	1	518	c.478G>A	c.(478-480)Gct>Act	p.A160T	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	160					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	CCTGCCTCTGGCTGTCGCGCT	0.701																																						uc001reh.2																			0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58						c.(478-480)Gct>Act		Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)						15.0	18.0	17.0					12																	20522696		2070	4115	6185	SO:0001583	missense	5139				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:20522696G>A		CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.478G>A	12.37:g.20522696G>A	ENSP00000351957:p.Ala160Thr						p.A160T	NM_000921	NP_000912	Q14432	PDE3A_HUMAN			0	518	+	Esophageal squamous(101;0.125)	Breast(259;0.134)	160					O60865|Q13348|Q17RD1	Missense_Mutation	SNP	ENST00000359062.3	37	c.478G>A	CCDS31754.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498801	0.85069	.	.	ENSG00000172572	ENST00000359062	T	0.62941	-0.01	5.21	5.21	0.72293	.	1.344880	0.04323	N	0.351000	T	0.50956	0.1646	L	0.27053	0.805	0.44834	D	0.997846	B	0.33857	0.429	B	0.24006	0.05	T	0.33879	-0.9851	10	0.48119	T	0.1	.	11.1027	0.48184	0.0867:0.0:0.9133:0.0	.	160	Q14432	PDE3A_HUMAN	T	160	ENSP00000351957:A160T	ENSP00000351957:A160T	A	+	1	0	PDE3A	20413963	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.247000	0.51422	2.425000	0.82216	0.555000	0.69702	GCT		0.701	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401756.2		
CCER1	196477	broad.mit.edu	37	12	91348191	91348191	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:91348191C>T	ENST00000358859.2	-	1	762	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	CCER1_ENST00000548187.1_Intron	NM_152638.2	NP_689851.1	Q8TC90	CCER1_HUMAN	coiled-coil glutamate-rich protein 1	110																	GCCATACACCCGAAACACTTG	0.647																																						uc001tbj.3																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						c.(328-330)cGg>cAg		Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.							24.0	30.0	28.0					12																	91348191		2202	4300	6502	SO:0001583	missense	196477							g.chr12:91348191C>T	BC024183	CCDS9036.1	12q21.33	2012-05-30	2012-05-30	2012-05-30	ENSG00000197651	ENSG00000197651			28373	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 12"""	C12orf12		17967063	Standard	NM_152638		Approved	MGC26598	uc001tbj.3	Q8TC90	OTTHUMG00000170070	ENST00000358859.2:c.329G>A	12.37:g.91348191C>T	ENSP00000351727:p.Arg110Gln						p.R110Q	NM_152638	NP_689851	Q8TC90	CL012_HUMAN			0	763	-			110					Q8TC47	Missense_Mutation	SNP	ENST00000358859.2	37	c.329G>A	CCDS9036.1	.	.	.	.	.	.	.	.	.	.	C	15.67	2.900916	0.52227	.	.	ENSG00000197651	ENST00000358859	T	0.36340	1.26	4.62	4.62	0.57501	.	0.000000	0.31721	N	0.007171	T	0.38427	0.1040	N	0.24115	0.695	0.31151	N	0.705518	D	0.65815	0.995	P	0.56514	0.8	T	0.39272	-0.9622	10	0.54805	T	0.06	-25.6392	12.8343	0.57765	0.0:1.0:0.0:0.0	.	110	Q8TC90	CL012_HUMAN	Q	110	ENSP00000351727:R110Q	ENSP00000351727:R110Q	R	-	2	0	C12orf12	89872322	0.112000	0.22096	0.727000	0.30756	0.081000	0.17604	0.357000	0.20199	2.376000	0.81061	0.462000	0.41574	CGG		0.647	CCER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407142.2	NM_152638	
BTBD11	121551	broad.mit.edu	37	12	108013833	108013833	+	Silent	SNP	C	C	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:108013833C>A	ENST00000280758.5	+	11	3051	c.2523C>A	c.(2521-2523)ctC>ctA	p.L841L	BTBD11_ENST00000490090.2_Silent_p.L841L|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Silent_p.L378L|BTBD11_ENST00000420571.2_Silent_p.L722L	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	841						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCAGGCCTCTCATCCAGTGCT	0.582																																						uc001tmk.1																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						c.(2521-2523)ctC>ctA		Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.							63.0	60.0	61.0					12																	108013833		2203	4300	6503	SO:0001819	synonymous_variant	121551					integral to membrane	DNA binding	g.chr12:108013833C>A	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.2523C>A	12.37:g.108013833C>A						BTBD11_uc009zut.1_Silent_p.L722L|BTBD11_uc001tmj.3_Silent_p.L841L|BTBD11_uc001tml.1_Silent_p.L378L	p.L841L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN			10	3044	+			841					A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Silent	SNP	ENST00000280758.5	37	c.2523C>A	CCDS31893.1																																																																																				0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318003.1	NM_152322	
SUPT20H	55578	broad.mit.edu	37	13	37607599	37607599	+	Missense_Mutation	SNP	G	G	A	rs569498102		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr13:37607599G>A	ENST00000350612.6	-	10	914	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	SUPT20H_ENST00000464744.1_Missense_Mutation_p.R233C|SUPT20H_ENST00000542180.1_Missense_Mutation_p.R220C|AL138706.1_ENST00000408173.1_RNA|SUPT20H_ENST00000356185.3_Missense_Mutation_p.R233C|SUPT20H_ENST00000360252.4_Missense_Mutation_p.R233C|SUPT20H_ENST00000475892.1_Missense_Mutation_p.R232C	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	232					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										TTCATTGGGCGAGTGTTCATC	0.428													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16757	0.0		0.0	False		,,,				2504	0.0					uc001uwk.3																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						c.(694-696)Cgc>Tgc		Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.							242.0	223.0	229.0					13																	37607599		2203	4300	6503	SO:0001583	missense	55578				autophagy|gastrulation	SAGA-type complex	protein binding	g.chr13:37607599G>A	AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.694C>T	13.37:g.37607599G>A	ENSP00000218894:p.Arg232Cys					FAM48A_uc010abt.3_Missense_Mutation_p.R233C|FAM48A_uc001uwg.3_Missense_Mutation_p.R232C|FAM48A_uc001uwh.3_Missense_Mutation_p.R233C|FAM48A_uc001uwi.3_Missense_Mutation_p.R232C|FAM48A_uc001uwj.3_Missense_Mutation_p.R233C|FAM48A_uc010tes.1_Missense_Mutation_p.R220C|FAM48A_uc001uwl.1_Missense_Mutation_p.R232C	p.R232C	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)	9	942	-		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)	232					E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	c.694C>T	CCDS31959.1	.	.	.	.	.	.	.	.	.	.	G	14.49	2.550429	0.45383	.	.	ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180	T;T;T;T;T;T	0.46819	0.87;0.86;1.45;0.87;0.87;0.89	5.85	5.01	0.66863	.	0.115777	0.64402	D	0.000011	T	0.34542	0.0901	L	0.28458	0.855	0.54753	D	0.999984	B;B;B;B;B;B	0.24721	0.017;0.11;0.031;0.062;0.048;0.017	B;B;B;B;B;B	0.18561	0.008;0.014;0.008;0.022;0.014;0.008	T	0.12192	-1.0557	10	0.36615	T	0.2	-7.5063	11.1534	0.48473	0.1406:0.0:0.8594:0.0	.	220;232;232;233;233;232	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7	.;.;.;.;.;FA48A_HUMAN	C	233;232;232;233;232;233;220	ENSP00000353388:R233C;ENSP00000417510:R232C;ENSP00000218894:R232C;ENSP00000348512:R233C;ENSP00000419754:R233C;ENSP00000439000:R220C	ENSP00000218894:R232C	R	-	1	0	FAM48A	36505599	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.623000	0.83113	1.481000	0.48307	0.655000	0.94253	CGC		0.428	SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569	
MDP1	145553	broad.mit.edu	37	14	24683351	24683351	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:24683351G>A	ENST00000288087.7	-	6	521	c.410C>T	c.(409-411)aCc>aTc	p.T137I	MDP1_ENST00000396833.2_Silent_p.Y90Y|AL136419.6_ENST00000565988.1_RNA|NEDD8-MDP1_ENST00000604306.1_5'Flank|CHMP4A_ENST00000542700.2_5'Flank|CHMP4A_ENST00000347519.6_5'Flank|CHMP4A_ENST00000530996.1_5'Flank|NEDD8-MDP1_ENST00000534348.1_Missense_Mutation_p.T154I|TM9SF1_ENST00000556387.1_5'Flank|MDP1_ENST00000532557.1_5'UTR|CHMP4A_ENST00000609024.1_5'Flank|TM9SF1_ENST00000530611.1_5'Flank	NM_001199822.1|NM_138476.3	NP_001186751.1|NP_612485.2	Q86V88	MGDP1_HUMAN	magnesium-dependent phosphatase 1	137						extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|large_intestine(2)|lung(3)	7						GTGAATGCAGGTAACACCTAG	0.433																																						uc001wnl.2																			0											c.(409-411)aCc>aTc		Homo sapiens magnesium-dependent phosphatase 1 (MDP1), transcript variant 1, mRNA.							88.0	89.0	89.0					14																	24683351		2203	4300	6503	SO:0001583	missense	145553							g.chr14:24683351G>A	BC046912	CCDS9620.1, CCDS55908.1	14q12	2009-07-09			ENSG00000213920	ENSG00000213920			28781	protein-coding gene	gene with protein product	"""fructosamine-6-phosphatase"""					10889041, 16670083	Standard	NM_138476		Approved	MGC5987, FN6Pase		Q86V88	OTTHUMG00000133477	ENST00000288087.7:c.410C>T	14.37:g.24683351G>A	ENSP00000288087:p.Thr137Ile					TM9SF1_uc010tob.1_5'UTR|TM9SF1_uc010toc.2_Non-coding_Transcript|TM9SF1_uc001wni.3_5'UTR|TM9SF1_uc001wnj.3_5'UTR|NEDD8-MDP1_uc001wnk.2_3'UTR|NEDD8-MDP1_uc021rrl.1_3'UTR|NEDD8-MDP1_uc001wnm.2_Silent_p.Y90Y|NEDD8-MDP1_uc021rrm.1_Missense_Mutation_p.T154I	p.T137I	NM_138476	NP_612485					5	525	-								Q86Y84|Q8NAD9	Missense_Mutation	SNP	ENST00000288087.7	37	c.410C>T	CCDS9620.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817561	0.50633	.	.	ENSG00000213920;ENSG00000255526	ENST00000288087;ENST00000534348	D;D	0.97404	-4.37;-4.37	5.25	4.36	0.52297	HAD-like domain (2);	0.000000	0.30830	U	0.008789	D	0.92459	0.7606	.	.	.	0.80722	D	1	P	0.42735	0.788	B	0.36418	0.224	D	0.89990	0.4107	9	0.21014	T	0.42	-5.1538	9.6023	0.39612	0.0939:0.0:0.9061:0.0	.	137	Q86V88	MGDP1_HUMAN	I	137;154	ENSP00000288087:T137I;ENSP00000431482:T154I	ENSP00000288087:T137I	T	-	2	0	MDP1;NEDD8-MDP1	23753191	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.156000	0.42310	1.455000	0.47813	0.655000	0.94253	ACC		0.433	MDP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257367.1	NM_138476	
RBM25	58517	broad.mit.edu	37	14	73578261	73578261	+	Silent	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:73578261T>C	ENST00000261973.7	+	16	2328	c.2043T>C	c.(2041-2043)ccT>ccC	p.P681P	RBM25_ENST00000532483.1_3'UTR|RBM25_ENST00000527432.1_Silent_p.P681P	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	681					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGGTCAGCCTAATTCTGTGA	0.388																																						uc010ttu.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31						c.(2041-2043)ccT>ccC		Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.							97.0	97.0	97.0					14																	73578261		2203	4300	6503	SO:0001819	synonymous_variant	58517				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding	g.chr14:73578261T>C	BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.2043T>C	14.37:g.73578261T>C						RBM25_uc001xno.3_Silent_p.P681P|RBM25_uc001xnp.3_Silent_p.P476P	p.P681P	NM_021239	NP_067062	P49756	RBM25_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)	16	2319	+			681					A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Silent	SNP	ENST00000261973.7	37	c.2043T>C	CCDS32113.1																																																																																				0.388	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394966.1	XM_027330	
EML5	161436	broad.mit.edu	37	14	89084607	89084607	+	Silent	SNP	G	G	A	rs374476714		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:89084607G>A	ENST00000380664.5	-	39	5582	c.5583C>T	c.(5581-5583)gcC>gcT	p.A1861A	EML5_ENST00000352093.5_Silent_p.A1823A|EML5_ENST00000553320.1_5'Flank|EML5_ENST00000554922.1_Silent_p.A1869A			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1861						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGTCAATAGCGGCATGATCCA	0.378																																						uc021ryf.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(5605-5607)gcC>gcT		Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.		G		1,3703		0,1,1851	100.0	97.0	98.0		5607	-5.6	1.0	14		98	0,8206		0,0,4103	no	coding-synonymous	EML5	NM_183387.2		0,1,5954	AA,AG,GG		0.0,0.027,0.0084		1869/1978	89084607	1,11909	1852	4103	5955	SO:0001819	synonymous_variant	161436					cytoplasm|microtubule		g.chr14:89084607G>A	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.5583C>T	14.37:g.89084607G>A						EML5_uc001xxf.3_Silent_p.A656A|EML5_uc021ryg.1_Silent_p.A1869A|EML5_uc001xxd.3_Silent_p.A34A|EML5_uc001xxe.3_Silent_p.A218A	p.A1869A	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			39	5856	-			1861					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Silent	SNP	ENST00000380664.5	37	c.5607C>T	CCDS45148.1																																																																																				0.378	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
SERPINA1	5265	broad.mit.edu	37	14	94847444	94847444	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:94847444G>A	ENST00000448921.1	-	5	1253	c.681C>T	c.(679-681)acC>acT	p.T227T	SERPINA1_ENST00000355814.4_Silent_p.T227T|SERPINA1_ENST00000440909.1_Silent_p.T227T|SERPINA1_ENST00000449399.3_Silent_p.T227T|SERPINA1_ENST00000402629.1_Silent_p.T227T|SERPINA1_ENST00000404814.4_Silent_p.T227T|SERPINA1_ENST00000393087.4_Silent_p.T227T|SERPINA1_ENST00000393088.4_Silent_p.T227T|SERPINA1_ENST00000437397.1_Silent_p.T227T|SERPINA1_ENST00000555289.1_5'Flank	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	227					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		CCTCTTCCTCGGTGTCCTTGA	0.517																																						uc001ycy.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(679-681)acC>acT		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	Alpha-1-proteinase inhibitor(DB00058)						89.0	62.0	71.0					14																	94847444		2203	4300	6503	SO:0001819	synonymous_variant	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94847444G>A	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.681C>T	14.37:g.94847444G>A						SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.T227T|SERPINA1_uc010auy.3_Silent_p.T227T|SERPINA1_uc001ycz.4_Silent_p.T227T|SERPINA1_uc010auz.3_Silent_p.T227T|SERPINA1_uc010ava.3_Silent_p.T227T|SERPINA1_uc001ydb.4_Silent_p.T227T|SERPINA1_uc010avb.3_Silent_p.T227T|SERPINA1_uc001ydc.4_Silent_p.T227T|SERPINA1_uc010auw.3_Silent_p.T227T|SERPINA1_uc010aux.3_Silent_p.T227T|SERPINA1_uc001yda.1_Silent_p.T227T	p.T227T	NM_001002236	NP_001121179	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	4	1235	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	227					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Silent	SNP	ENST00000448921.1	37	c.681C>T	CCDS9925.1																																																																																				0.517	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235	
HHIPL1	84439	broad.mit.edu	37	14	100118715	100118715	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:100118715C>T	ENST00000330710.5	+	2	508	c.410C>T	c.(409-411)gCg>gTg	p.A137V	HHIPL1_ENST00000357223.2_Missense_Mutation_p.A137V	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	137					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)|membrane (GO:0016020)	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor (GO:0016901)|quinone binding (GO:0048038)|scavenger receptor activity (GO:0005044)			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GAGCTCTGGGCGCTGGAGGGC	0.602																																						uc010avs.3																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15						c.(409-411)gCg>gTg		Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.							88.0	80.0	83.0					14																	100118715		2203	4300	6503	SO:0001583	missense	84439				carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity	g.chr14:100118715C>T	AB058725	CCDS9953.1, CCDS45162.1	14q32	2008-01-16	2008-01-16	2008-01-16		ENSG00000182218			19710	protein-coding gene	gene with protein product			"""KIAA1822"""	KIAA1822			Standard	NM_032425		Approved		uc010avs.3	Q96JK4		ENST00000330710.5:c.410C>T	14.37:g.100118715C>T	ENSP00000330601:p.Ala137Val					HHIPL1_uc001ygl.1_Missense_Mutation_p.A137V	p.A137V	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN			1	475	+		Melanoma(154;0.128)	137					A2RUF8|B2RN09|Q6UXX2	Missense_Mutation	SNP	ENST00000330710.5	37	c.410C>T	CCDS45162.1	.	.	.	.	.	.	.	.	.	.	c	15.08	2.726881	0.48833	.	.	ENSG00000182218	ENST00000330710;ENST00000357223	T;T	0.28069	1.63;1.63	4.98	4.98	0.66077	Folate receptor-like (1);	0.340189	0.27595	N	0.018661	T	0.39708	0.1088	L	0.58669	1.825	0.32756	N	0.505739	D;P	0.53619	0.961;0.928	P;B	0.47864	0.559;0.388	T	0.50955	-0.8766	10	0.31617	T	0.26	.	18.2712	0.90069	0.0:1.0:0.0:0.0	.	137;137	Q96JK4;Q96JK4-2	HIPL1_HUMAN;.	V	137	ENSP00000330601:A137V;ENSP00000349757:A137V	ENSP00000330601:A137V	A	+	2	0	HHIPL1	99188468	0.995000	0.38212	0.996000	0.52242	0.487000	0.33371	4.275000	0.58927	2.294000	0.77228	0.655000	0.94253	GCG		0.602	HHIPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413811.1	XM_041566	
EIF2AK4	440275	broad.mit.edu	37	15	40247830	40247830	+	Nonsense_Mutation	SNP	G	G	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:40247830G>T	ENST00000263791.5	+	6	647	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	EIF2AK4_ENST00000382727.2_Nonsense_Mutation_p.E202*|EIF2AK4_ENST00000559624.1_Nonsense_Mutation_p.E202*	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	202					cellular response to starvation (GO:0009267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of translation (GO:0017148)|protein phosphorylation (GO:0006468)|regulation of translational initiation (GO:0006446)|regulation of translational initiation in response to stress (GO:0043558)	cytosolic ribosome (GO:0022626)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GGAACGTTTGGAAATTGCTAG	0.378																																						uc001zkm.1																			0				NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40						c.(604-606)Gaa>Taa		Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.							107.0	101.0	103.0					15																	40247830		1876	4094	5970	SO:0001587	stop_gained	440275				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity	g.chr15:40247830G>T	AB037759	CCDS42016.1	15q13.3	2008-08-18				ENSG00000128829			19687	protein-coding gene	gene with protein product		609280				10504407	Standard	XM_005254392		Approved	GCN2, KIAA1338	uc001zkm.1	Q9P2K8		ENST00000263791.5:c.604G>T	15.37:g.40247830G>T	ENSP00000263791:p.Glu202*					EIF2AK4_uc001zkl.3_Nonsense_Mutation_p.E202*|EIF2AK4_uc010bbj.1_5'UTR	p.E202*	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)	5	654	+		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)	202					C9JEC4|Q69YL7|Q6DC97|Q96GN6|Q9H5K1|Q9NSQ3|Q9NSZ5|Q9UJ56	Nonsense_Mutation	SNP	ENST00000263791.5	37	c.604G>T	CCDS42016.1	.	.	.	.	.	.	.	.	.	.	G	35	5.462923	0.96257	.	.	ENSG00000128829	ENST00000263791;ENST00000382727	.	.	.	4.91	4.91	0.64330	.	0.115803	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-19.3446	18.0606	0.89375	0.0:0.0:1.0:0.0	.	.	.	.	X	202	.	ENSP00000263791:E202X	E	+	1	0	EIF2AK4	38035122	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	6.298000	0.72763	2.427000	0.82271	0.462000	0.41574	GAA		0.378	EIF2AK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418395.1		
SPTBN5	51332	broad.mit.edu	37	15	42167085	42167085	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:42167085G>A	ENST00000320955.6	-	23	4684	c.4457C>T	c.(4456-4458)gCc>gTc	p.A1486V		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1486					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGGGGAGGCGGCCATGCCATG	0.632																																						uc001zos.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(4351-4353)gCc>gTc		Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.							33.0	38.0	36.0					15																	42167085		1976	4129	6105	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42167085G>A	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.4457C>T	15.37:g.42167085G>A	ENSP00000317790:p.Ala1486Val						p.A1451V	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	22	4685	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	1486						Missense_Mutation	SNP	ENST00000320955.6	37	c.4352C>T		.	.	.	.	.	.	.	.	.	.	.	6.223	0.409328	0.11812	.	.	ENSG00000137877	ENST00000320955	T	0.35048	1.33	4.77	-5.85	0.02311	.	0.806606	0.10795	N	0.633354	T	0.14527	0.0351	N	0.20357	0.565	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.27157	-1.0082	10	0.15499	T	0.54	.	2.6214	0.04917	0.2587:0.2479:0.3823:0.1111	.	1486	Q9NRC6	SPTN5_HUMAN	V	1486	ENSP00000317790:A1486V	ENSP00000317790:A1486V	A	-	2	0	SPTBN5	39954377	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	0.238000	0.18004	-1.204000	0.02648	-1.104000	0.02111	GCC		0.632	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642	
PIAS1	8554	broad.mit.edu	37	15	68468841	68468841	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:68468841G>T	ENST00000249636.6	+	11	1478	c.1330G>T	c.(1330-1332)Gta>Tta	p.V444L	PIAS1_ENST00000545237.1_Missense_Mutation_p.V446L	NM_016166.1	NP_057250.1	O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	444					androgen receptor signaling pathway (GO:0030521)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|JAK-STAT cascade (GO:0007259)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of transcription, DNA-templated (GO:0045893)|protein sumoylation (GO:0016925)|protein-DNA complex assembly (GO:0065004)|regulation of cell proliferation (GO:0042127)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|SUMO ligase activity (GO:0019789)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GGAGCATCAGGTAGCGTCTCA	0.423																																						uc002aqz.3																			0				breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						c.(1330-1332)Gta>Tta		Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.							131.0	128.0	129.0					15																	68468841		1928	4118	6046	SO:0001583	missense	8554				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr15:68468841G>T	AF077951	CCDS45290.1	15q	2011-10-11	2002-04-19	2002-04-19		ENSG00000033800		"""Zinc fingers, MIZ-type"""	2752	protein-coding gene	gene with protein product	"""zinc finger, MIZ-type containing 3"""	603566	"""DEAD/H (Asp-Glu-Ala-Asp/His) box binding protein 1"""	DDXBP1		9724754, 9177271	Standard	XM_005254735		Approved	GBP, GU/RH-II, ZMIZ3	uc002aqz.3	O75925		ENST00000249636.6:c.1330G>T	15.37:g.68468841G>T	ENSP00000249636:p.Val444Leu						p.V444L	NM_016166	NP_057250	O75925	PIAS1_HUMAN			10	1423	+			444					B2RB67|B3KSY9|C5J4B4|Q147X4|Q99751|Q9UN02	Missense_Mutation	SNP	ENST00000249636.6	37	c.1330G>T	CCDS45290.1	.	.	.	.	.	.	.	.	.	.	G	7.496	0.651738	0.14516	.	.	ENSG00000033800	ENST00000249636;ENST00000545237	T;T	0.28666	1.6;1.6	5.84	4.91	0.64330	.	3.344180	0.00616	N	0.000426	T	0.23210	0.0561	N	0.08118	0	0.47308	D	0.999389	B	0.02656	0.0	B	0.06405	0.002	T	0.02404	-1.1164	10	0.22706	T	0.39	-7.2845	15.3453	0.74330	0.0682:0.0:0.9318:0.0	.	444	O75925	PIAS1_HUMAN	L	444;446	ENSP00000249636:V444L;ENSP00000438574:V446L	ENSP00000249636:V444L	V	+	1	0	PIAS1	66255895	1.000000	0.71417	0.846000	0.33378	0.439000	0.31926	4.474000	0.60203	2.751000	0.94390	0.655000	0.94253	GTA		0.423	PIAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419642.2		
GDPGP1	390637	broad.mit.edu	37	15	90784827	90784827	+	Silent	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:90784827C>T	ENST00000558017.1	+	4	1107	c.687C>T	c.(685-687)ccC>ccT	p.P229P	GDPGP1_ENST00000329600.6_Silent_p.P229P	NM_001013657.2	NP_001013679.2	Q6ZNW5	GDPP1_HUMAN	GDP-D-glucose phosphorylase 1	229					glucose metabolic process (GO:0006006)	cytoplasm (GO:0005737)	GDP-D-glucose phosphorylase activity (GO:0080048)|guanyl-nucleotide exchange factor activity (GO:0005085)|hydrolase activity (GO:0016787)|nucleotide binding (GO:0000166)|nucleotidyltransferase activity (GO:0016779)										ACAGACTGCCCGTGGAGCAGG	0.637																																						uc002bpc.3																			0											c.(685-687)ccC>ccT		Homo sapiens chromosome 15 open reading frame 58 (C15orf58), mRNA.							40.0	40.0	40.0					15																	90784827		2199	4298	6497	SO:0001819	synonymous_variant	390637				glucose metabolic process	cytoplasm	GDP-D-glucose phosphorylase activity	g.chr15:90784827C>T		CCDS32327.1	15q26.1	2012-05-04	2012-05-04	2012-05-04	ENSG00000183208	ENSG00000183208	2.7.7.78		34360	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 58"""	C15orf58		21507950	Standard	NM_001013657		Approved		uc002bpc.3	Q6ZNW5		ENST00000558017.1:c.687C>T	15.37:g.90784827C>T						GDPGP1_uc021suh.1_Silent_p.P229P	p.P229P	NM_001013657	NP_001013679	Q6ZNW5	VTC2_HUMAN			3	866	+			229						Silent	SNP	ENST00000558017.1	37	c.687C>T	CCDS32327.1																																																																																				0.637	GDPGP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416973.1	NM_001013657	
CDYL2	124359	broad.mit.edu	37	16	80718568	80718568	+	Silent	SNP	G	G	A	rs149557557		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr16:80718568G>A	ENST00000570137.2	-	2	638	c.483C>T	c.(481-483)gcC>gcT	p.A161A	CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Silent_p.A161A|CDYL2_ENST00000566173.1_Silent_p.A161A|CDYL2_ENST00000563890.1_Silent_p.A161A	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2	161						nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCTCAGAGCCGGCGTCCCCAT	0.512																																						uc002ffs.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						c.(481-483)gcC>gcT		Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.		G		0,4406		0,0,2203	106.0	104.0	105.0		483	-5.6	0.0	16	dbSNP_134	105	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	CDYL2	NM_152342.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		161/507	80718568	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	124359					nucleus	catalytic activity|protein binding	g.chr16:80718568G>A	AK096185	CCDS32493.1	16q23.2	2008-02-05	2003-09-12			ENSG00000166446			23030	protein-coding gene	gene with protein product			"""chromodomain Y-like protein 2"""			12837688	Standard	NM_152342		Approved	FLJ38866	uc002ffs.3	Q8N8U2		ENST00000570137.2:c.483C>T	16.37:g.80718568G>A							p.A161A	NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN			1	588	-			161					Q7Z5I8	Silent	SNP	ENST00000570137.2	37	c.483C>T	CCDS32493.1																																																																																				0.512	CDYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434727.2	NM_152342	
TP53	7157	broad.mit.edu	37	17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	rs121912666		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr17:7578190T>C	ENST00000269305.4	-	6	848	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000420246.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	220	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:9450901}.|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.Y220C(278)|p.Y127C(24)|p.Y220S(12)|p.?(11)|p.0?(8)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.Y127S(1)|p.V218_Y220delVPY(1)|p.Y220fs*25(1)|p.V216_Y220delVVVPY(1)|p.Y220fs*2(1)|p.V218fs*26(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGGCGGCTCATAGGGCACCAC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		343	Substitution - Missense(315)|Unknown(11)|Whole gene deletion(8)|Deletion - In frame(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)	p.Y220C(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(1)|p.V218fs*26(1)	ovary(55)|breast(54)|lung(37)|upper_aerodigestive_tract(35)|urinary_tract(19)|oesophagus(19)|large_intestine(17)|liver(17)|central_nervous_system(16)|stomach(15)|haematopoietic_and_lymphoid_tissue(15)|endometrium(14)|soft_tissue(8)|biliary_tract(6)|bone(5)|pancreas(4)|prostate(4)|peritoneum(2)|small_intestine(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM015378|CM951227	TP53	M	rs121912666	c.(658-660)tAt>tGt	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							102.0	94.0	97.0					17																	7578190		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578190T>C	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.659A>G	17.37:g.7578190T>C	ENSP00000269305:p.Tyr220Cys	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	p.Y220C	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	853	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	220		Y -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in a sporadic cancer; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.659A>G	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248510	0.80024	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99840	-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08;-7.08	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.89287	3.02	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.998;0.996;1.0;0.999;0.998;1.0	D	0.96735	0.9542	10	0.87932	D	0	-1.87	13.4753	0.61306	0.0:0.0:0.0:1.0	.	181;220;220;127;220;220;220	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	C	220;220;220;220;220;220;209;127;88;127	ENSP00000410739:Y220C;ENSP00000352610:Y220C;ENSP00000269305:Y220C;ENSP00000398846:Y220C;ENSP00000391127:Y220C;ENSP00000391478:Y220C;ENSP00000425104:Y88C;ENSP00000423862:Y127C	ENSP00000269305:Y220C	Y	-	2	0	TP53	7518915	1.000000	0.71417	0.585000	0.28666	0.993000	0.82548	6.232000	0.72313	2.128000	0.65567	0.460000	0.39030	TAT		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
ABCA10	10349	broad.mit.edu	37	17	67148603	67148603	+	Missense_Mutation	SNP	C	C	T	rs377479549		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr17:67148603C>T	ENST00000269081.4	-	36	5065	c.4156G>A	c.(4156-4158)Gtt>Att	p.V1386I	ABCA10_ENST00000416101.2_3'UTR|ABCA10_ENST00000519732.1_5'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	1386	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTGTTTTTAACGGTAGCCTGA	0.423																																						uc010dfa.1																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81						c.(4156-4158)Gtt>Att		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.		C	ILE/VAL	0,4406		0,0,2203	135.0	117.0	123.0		4156	-0.9	0.0	17		123	1,8599	1.2+/-3.3	0,1,4299	no	missense	ABCA10	NM_080282.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	1386/1544	67148603	1,13005	2203	4300	6503	SO:0001583	missense	10349				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67148603C>T	AY247065	CCDS11684.1	17q24	2012-03-14			ENSG00000154263	ENSG00000154263		"""ATP binding cassette transporters / subfamily A"""	30	protein-coding gene	gene with protein product		612508				12821155, 11435397	Standard	NM_080282		Approved	EST698739	uc010dfa.1	Q8WWZ4	OTTHUMG00000164716	ENST00000269081.4:c.4156G>A	17.37:g.67148603C>T	ENSP00000269081:p.Val1386Ile					ABCA10_uc002jhz.3_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.V378I|ABCA10_uc010wqt.1_Non-coding_Transcript	p.V1386I	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN			35	5035	-	Breast(10;6.95e-12)		1386			ABC transporter 2.		C9JZH2|C9K035|Q6PIQ6|Q7Z2I9|Q7Z7P7|Q86TD2	Missense_Mutation	SNP	ENST00000269081.4	37	c.4156G>A	CCDS11684.1	.	.	.	.	.	.	.	.	.	.	C	3.034	-0.199057	0.06219	0.0	1.16E-4	ENSG00000154263	ENST00000269081	D	0.95205	-3.64	3.07	-0.85	0.10720	ATPase, AAA+ type, core (1);ABC transporter-like (1);	1.187330	0.06967	N	0.817404	D	0.87107	0.6095	N	0.21448	0.665	0.80722	D	1	B;B	0.23540	0.02;0.087	B;B	0.15870	0.004;0.014	T	0.74816	-0.3536	10	0.24483	T	0.36	.	5.4495	0.16554	0.6044:0.2746:0.0:0.121	.	378;1386	B4DPV2;Q8WWZ4	.;ABCAA_HUMAN	I	1386	ENSP00000269081:V1386I	ENSP00000269081:V1386I	V	-	1	0	ABCA10	64660198	0.004000	0.15560	0.035000	0.18076	0.088000	0.18126	0.080000	0.14802	0.100000	0.17581	-0.253000	0.11424	GTT		0.423	ABCA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379881.4	NM_080282	
MYOM1	8736	broad.mit.edu	37	18	3134669	3134669	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr18:3134669T>C	ENST00000356443.4	-	16	2696	c.2363A>G	c.(2362-2364)aAc>aGc	p.N788S	MYOM1_ENST00000261606.7_Missense_Mutation_p.N788S|MYOM1_ENST00000400569.3_Missense_Mutation_p.N788S	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	788	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACGGGGTTGTTGTTACAGGG	0.577																																						uc002klp.3																			0				NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2362-2364)aAc>aGc		Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.							55.0	54.0	54.0					18																	3134669		1935	4135	6070	SO:0001583	missense	8736					striated muscle myosin thick filament	structural constituent of muscle	g.chr18:3134669T>C	AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.2363A>G	18.37:g.3134669T>C	ENSP00000348821:p.Asn788Ser					MYOM1_uc002klq.3_Missense_Mutation_p.N788S	p.N788S	NM_003803	NP_003794	P52179	MYOM1_HUMAN			15	2697	-			788			Fibronectin type-III 3.		Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	c.2363A>G	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.094719	0.76870	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.57107	0.42;0.42;0.42	5.48	5.48	0.80851	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.60676	0.2287	L	0.39467	1.215	0.51233	D	0.999918	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.54860	-0.8230	10	0.07325	T	0.83	.	15.5528	0.76167	0.0:0.0:0.0:1.0	.	788;788	P52179-2;P52179	.;MYOM1_HUMAN	S	788	ENSP00000348821:N788S;ENSP00000383413:N788S;ENSP00000261606:N788S	ENSP00000261606:N788S	N	-	2	0	MYOM1	3124669	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.003000	0.88520	2.087000	0.62958	0.533000	0.62120	AAC		0.577	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
CDH7	1005	broad.mit.edu	37	18	63477003	63477003	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr18:63477003A>G	ENST00000397968.2	+	3	700	c.274A>G	c.(274-276)Agt>Ggt	p.S92G	CDH7_ENST00000323011.3_Missense_Mutation_p.S92G|CDH7_ENST00000536984.2_Missense_Mutation_p.S92G	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	92	Cadherin 1. {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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAAGGGGCAAGTTCCATTTT	0.448																																						uc002lkb.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80						c.(274-276)Agt>Ggt		Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.							93.0	87.0	90.0					18																	63477003		2203	4300	6503	SO:0001583	missense	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63477003A>G	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.274A>G	18.37:g.63477003A>G	ENSP00000381058:p.Ser92Gly					CDH7_uc002ljz.3_Missense_Mutation_p.S92G|CDH7_uc002lka.3_Missense_Mutation_p.S92G	p.S92G	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN			2	700	+		Esophageal squamous(42;0.129)	92			Cadherin 1.		Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	c.274A>G	CCDS11993.1	.	.	.	.	.	.	.	.	.	.	A	3.468	-0.108600	0.06924	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.49720	0.77;0.77;0.77	5.94	4.79	0.61399	Cadherin (4);Cadherin-like (1);	0.204074	0.53938	D	0.000058	T	0.15565	0.0375	N	0.00686	-1.255	0.43021	D	0.994578	B;P	0.34462	0.0;0.454	B;B	0.34931	0.001;0.192	T	0.35151	-0.9800	10	0.02654	T	1	.	11.8508	0.52410	0.9322:0.0:0.0678:0.0	.	92;92	F5H5X9;Q9ULB5	.;CADH7_HUMAN	G	92	ENSP00000319166:S92G;ENSP00000443030:S92G;ENSP00000381058:S92G	ENSP00000319166:S92G	S	+	1	0	CDH7	61627983	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	2.756000	0.47549	1.081000	0.41110	0.528000	0.53228	AGT		0.448	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646	
REXO1	57455	broad.mit.edu	37	19	1816329	1816329	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:1816329C>T	ENST00000170168.4	-	15	3566	c.3472G>A	c.(3472-3474)Gtg>Atg	p.V1158M	MIR1909_ENST00000411312.1_RNA|CTB-31O20.3_ENST00000586259.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1158	Exonuclease.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTCCACCACGGTGCTGTGG	0.682																																						uc002lua.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16						c.(3472-3474)Gtg>Atg		Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.							15.0	13.0	14.0					19																	1816329		2189	4286	6475	SO:0001583	missense	57455					nucleus	exonuclease activity|nucleic acid binding	g.chr19:1816329C>T	AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3472G>A	19.37:g.1816329C>T	ENSP00000170168:p.Val1158Met					REXO1_uc010dsq.3_Missense_Mutation_p.V467M|REXO1_uc010xgs.1_Missense_Mutation_p.V144M|REXO1_uc021umm.1_5'Flank	p.V1158M	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	14	3567	-		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)	1158			Exonuclease.		Q9ULT2	Missense_Mutation	SNP	ENST00000170168.4	37	c.3472G>A	CCDS32866.1	.	.	.	.	.	.	.	.	.	.	c	21.6	4.167942	0.78339	.	.	ENSG00000079313	ENST00000170168;ENST00000543452	T	0.34072	1.38	5.06	5.06	0.68205	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.69575	0.3126	H	0.94620	3.56	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	T	0.78811	-0.2057	10	0.87932	D	0	-24.9156	13.8873	0.63717	0.0:0.8346:0.1654:0.0	.	144;467;1158	B4DVD3;B4DWY3;Q8N1G1	.;.;REXO1_HUMAN	M	1158;430	ENSP00000170168:V1158M	ENSP00000170168:V1158M	V	-	1	0	REXO1	1767329	0.997000	0.39634	1.000000	0.80357	0.973000	0.67179	3.703000	0.54808	2.330000	0.79161	0.556000	0.70494	GTG		0.682	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449200.1	NM_020695	
OR2Z1	284383	broad.mit.edu	37	19	8841802	8841802	+	Missense_Mutation	SNP	C	C	T	rs58741481	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:8841802C>T	ENST00000324060.2	+	1	487	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	138			R -> C (in dbSNP:rs58741481).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTATGAGACGCCAGGTATG	0.557													C|||	3	0.000599042	0.0023	0.0	5008	,	,		21639	0.0		0.0	False		,,,				2504	0.0					uc010xkg.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(412-414)Cgc>Tgc		Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.		C	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	151.0	121.0	131.0		412	3.2	0.9	19	dbSNP_129	131	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OR2Z1	NM_001004699.1	180	0,10,6493	TT,TC,CC		0.0465,0.1362,0.0769	possibly-damaging	138/315	8841802	10,12996	2203	4300	6503	SO:0001583	missense	284383				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:8841802C>T	AC008753	CCDS32895.1	19p13.2	2013-09-20	2002-11-13		ENSG00000181733	ENSG00000181733		"""GPCR / Class A : Olfactory receptors"""	15391	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily Z, member 2"""	OR2Z2			Standard	NM_001004699		Approved		uc010xkg.2	Q8NG97	OTTHUMG00000182195	ENST00000324060.2:c.412C>T	19.37:g.8841802C>T	ENSP00000316284:p.Arg138Cys						p.R138C	NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN			0	412	+			138		R -> C (in dbSNP:rs58741481).			B9EH50|Q6IFK0|Q96R25	Missense_Mutation	SNP	ENST00000324060.2	37	c.412C>T	CCDS32895.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	10.28	1.305812	0.23736	0.001362	4.65E-4	ENSG00000181733	ENST00000324060	T	0.01388	4.95	4.33	3.22	0.36961	GPCR, rhodopsin-like superfamily (1);	0.455893	0.20138	N	0.098457	T	0.02571	0.0078	M	0.76433	2.335	0.22701	N	0.998831	D	0.62365	0.991	B	0.41860	0.368	T	0.43940	-0.9360	10	0.51188	T	0.08	.	10.3577	0.43974	0.2982:0.7018:0.0:0.0	rs58741481	138	Q8NG97	OR2Z1_HUMAN	C	138	ENSP00000316284:R138C	ENSP00000316284:R138C	R	+	1	0	OR2Z1	8702802	0.000000	0.05858	0.885000	0.34714	0.022000	0.10575	-0.894000	0.04123	2.182000	0.69389	0.543000	0.68304	CGC		0.557	OR2Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459954.1		
SARS2	54938	broad.mit.edu	37	19	39408375	39408375	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:39408375G>A	ENST00000221431.6	-	12	1308	c.1149C>T	c.(1147-1149)ggC>ggT	p.G383G	CTC-360G5.8_ENST00000599996.1_Missense_Mutation_p.L453F|SARS2_ENST00000430193.3_Silent_p.G383G|SARS2_ENST00000448145.2_Silent_p.G383G|SARS2_ENST00000594171.1_Silent_p.G193G|SARS2_ENST00000598831.1_Silent_p.G31G|SARS2_ENST00000600042.1_Silent_p.G385G	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	383					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|serine-tRNA ligase activity (GO:0004828)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGAAGTGCAAGCCCAGCTCTG	0.627																																						uc010xup.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15						c.(1153-1155)ggC>ggT		Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							70.0	63.0	66.0					19																	39408375		2203	4300	6503	SO:0001819	synonymous_variant	54938				seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity	g.chr19:39408375G>A	AB029948	CCDS33017.1, CCDS54265.1	19q13.2	2014-05-06	2007-02-23			ENSG00000104835	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	17697	protein-coding gene	gene with protein product	"""serine tRNA ligase 2, mitochondrial"""	612804	"""serine-tRNA ligase, mitochondrial"", ""seryl-tRNA synthetase 2"""	SARSM		10764807	Standard	NM_001145901		Approved	FLJ20450, mtSerRS, SerRSmt, SARS, SERS, SYS	uc010xup.1	Q9NP81	OTTHUMG00000182691	ENST00000221431.6:c.1149C>T	19.37:g.39408375G>A						SARS2_uc002ojz.2_Silent_p.G193G|SARS2_uc002oka.2_Silent_p.G383G|SARS2_uc010xuq.1_Silent_p.G383G|SARS2_uc010xur.1_Non-coding_Transcript	p.G385G	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)		12	1315	-	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		383					A6NHW7|B4DE10|Q9BVP3	Silent	SNP	ENST00000221431.6	37	c.1155C>T	CCDS33017.1																																																																																				0.627	SARS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463139.1	NM_017827	
CD3EAP	10849	broad.mit.edu	37	19	45911859	45911861	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:45911859_45911861delGAA	ENST00000309424.3	+	3	1121_1123	c.633_635delGAA	c.(631-636)cggaag>cgg	p.K217del	ERCC1_ENST00000300853.3_3'UTR|CD3EAP_ENST00000589804.1_In_Frame_Del_p.K219del|PPP1R13L_ENST00000418234.2_5'Flank|ERCC1_ENST00000423698.2_3'UTR|ERCC1_ENST00000588738.1_5'Flank	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	217	Poly-Lys.				rRNA transcription (GO:0009303)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		TGGATGTGCGGAAGAAGAAGAAG	0.581																																						uc002pbr.1																			0		p.N218fs*58(2)		breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						c.(637-642)cggaag>cgg		Homo sapiens CD3e molecule, epsilon associated protein (CD3EAP), mRNA.			,,	0,144,4118		0,0,0,13,118,2000					,,	-5.6	0.0			66	5,183,8058		0,0,5,3,177,3938	no	codingComplex,utr-3,utr-3	ERCC1,CD3EAP	NM_012099.1,NM_001983.3,NM_001166049.1	,,	0,0,5,16,295,5938	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2799,3.3787,2.6543	,,	,,		5,327,12176				SO:0001651	inframe_deletion	10849				rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity	g.chr19:45911859_45911861delGAA	U86751	CCDS12661.1, CCDS74397.1	19q13.3	2008-02-05	2006-03-28			ENSG00000117877			24219	protein-coding gene	gene with protein product	"""CD3 epsilon associated protein"", ""antisense to ERCC 1"""	107325	"""CD3e antigen, epsilon polypeptide associated protein"""			10373416, 9426281, 15226435	Standard	XM_005258425		Approved	ASE-1, CAST, PAF49	uc002pbq.1	O15446		ENST00000309424.3:c.633_635delGAA	19.37:g.45911868_45911870delGAA	ENSP00000310966:p.Lys217del					PPP1R13L_uc002pbo.3_5'Flank|PPP1R13L_uc002pbp.2_5'Flank|CD3EAP_uc002pbq.1_In_Frame_Del_p.K217del|ERCC1_uc002pbt.2_3'UTR|ERCC1_uc002pbs.2_3'UTR|ERCC1_uc002pbu.2_3'UTR	p.K219del	NM_012099	NP_036231	O15446	RPA34_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0251)	2	645_647	+		all_neural(266;0.224)|Ovarian(192;0.231)	217					Q32N11|Q7Z5U2|Q9UPF6	In_Frame_Del	DEL	ENST00000309424.3	37	c.639_641delGAA	CCDS12661.1																																																																																				0.581	CD3EAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459538.1	NM_012099	
IL4I1	259307	broad.mit.edu	37	19	50397588	50397588	+	Silent	SNP	G	G	A	rs145616852	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:50397588G>A	ENST00000391826.2	-	5	646	c.504C>T	c.(502-504)taC>taT	p.Y168Y	IL4I1_ENST00000595948.1_Silent_p.Y190Y|IL4I1_ENST00000341114.3_Silent_p.Y190Y	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	168						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GACGCAAGGCGTAGCCCAGCT	0.602																																						uc002pqv.2																			0				endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16						c.(529-531)taC>taT		Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.		G	,	9,4397	15.5+/-35.6	0,9,2194	110.0	106.0	107.0		504,570	3.4	0.6	19	dbSNP_134	107	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	IL4I1	NM_152899.1,NM_172374.1	,	0,9,6494	AA,AG,GG		0.0,0.2043,0.0692	,	168/568,190/590	50397588	9,12997	2203	4300	6503	SO:0001819	synonymous_variant	259307					lysosome	L-amino-acid oxidase activity	g.chr19:50397588G>A	AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.504C>T	19.37:g.50397588G>A						IL4I1_uc002pqt.1_Silent_p.Y168Y|IL4I1_uc021uxy.1_Silent_p.Y190Y|IL4I1_uc002pqu.2_Silent_p.Y190Y|IL4I1_uc010eno.2_Silent_p.Y176Y	p.Y177Y	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	7	1360	-		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)	168					Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	ENST00000391826.2	37	c.531C>T	CCDS12787.1																																																																																				0.602	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466413.1		
ZNF667	63934	broad.mit.edu	37	19	56953533	56953533	+	Silent	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:56953533T>C	ENST00000504904.3	-	7	1550	c.831A>G	c.(829-831)ggA>ggG	p.G277G	ZNF667_ENST00000292069.6_Silent_p.G277G|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Silent_p.G405G			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTGTTTTCTTTCCATTGTGAA	0.348																																						uc002qne.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38						c.(829-831)ggA>ggG		Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.							63.0	69.0	67.0					19																	56953533		2201	4295	6496	SO:0001819	synonymous_variant	63934				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56953533T>C		CCDS12944.1	19q13.43	2013-01-08				ENSG00000198046		"""Zinc fingers, C2H2-type"", ""-"""	28854	protein-coding gene	gene with protein product		611024					Standard	NM_022103		Approved	FLJ14011	uc002qnd.3	Q5HYK9		ENST00000504904.3:c.831A>G	19.37:g.56953533T>C						ZNF667_uc010etl.3_Silent_p.G59G|ZNF667_uc002qnd.3_Silent_p.G277G|ZNF667_uc010etm.3_Silent_p.G220G	p.G277G	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN		GBM - Glioblastoma multiforme(193;0.0615)	6	1622	-		Colorectal(82;0.000256)|Ovarian(87;0.243)	277					B2RMS6|B9EK36|Q6B093|Q9H807	Silent	SNP	ENST00000504904.3	37	c.831A>G	CCDS12944.1																																																																																				0.348	ZNF667-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458394.1	NM_022103	
ZNF134	7693	broad.mit.edu	37	19	58131796	58131796	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:58131796G>A	ENST00000396161.5	+	3	619	c.309G>A	c.(307-309)gaG>gaA	p.E103E	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	103					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACAGTATAGAGCAACCCTTAA	0.458																																						uc002qpn.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11						c.(307-309)gaG>gaA		Homo sapiens zinc finger protein 134 (ZNF134), mRNA.							65.0	63.0	63.0					19																	58131796		1977	4182	6159	SO:0001819	synonymous_variant	7693					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58131796G>A	U09412	CCDS42638.1	19q13.4	2013-01-08	2006-06-13			ENSG00000213762		"""Zinc fingers, C2H2-type"""	12918	protein-coding gene	gene with protein product		604076	"""zinc finger protein 134 (clone pHZ-15)"""			7557990	Standard	NM_003435		Approved	pHZ-15	uc002qpn.2	P52741		ENST00000396161.5:c.309G>A	19.37:g.58131796G>A						ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'UTR	p.E103E	NM_003435	NP_003426	P52741	ZN134_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)	2	408	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)	103					Q9Y4B2	Silent	SNP	ENST00000396161.5	37	c.309G>A	CCDS42638.1																																																																																				0.458	ZNF134-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466808.1	NM_003435	
GKN1	56287	broad.mit.edu	37	2	69207121	69207121	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr2:69207121T>A	ENST00000377938.2	+	5	497	c.434T>A	c.(433-435)cTg>cAg	p.L145Q		NM_019617.3	NP_062563.3	Q9NS71	GKN1_HUMAN	gastrokine 1	145	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.				digestion (GO:0007586)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)	extracellular region (GO:0005576)|secretory granule (GO:0030141)				breast(2)|large_intestine(4)|lung(5)	11						GTCGATGACCTGAGCAAGTTC	0.502																																						uc002sfc.3																			0				breast(2)|large_intestine(4)|lung(5)	11						c.(433-435)cTg>cAg		Homo sapiens gastrokine 1 (GKN1), mRNA.							169.0	124.0	139.0					2																	69207121		2203	4300	6503	SO:0001583	missense	56287				digestion|positive regulation of cell division	extracellular region		g.chr2:69207121T>A	AY139182	CCDS1891.2	2p13.3	2012-10-10			ENSG00000169605	ENSG00000169605		"""BRICHOS domain containing"""	23217	protein-coding gene	gene with protein product	"""BRICHOS domain containing 1"""	606402				12851218, 11562744	Standard	NM_019617		Approved	AMP18, CA11, BRICD1	uc002sfc.3	Q9NS71	OTTHUMG00000129574	ENST00000377938.2:c.434T>A	2.37:g.69207121T>A	ENSP00000367172:p.Leu145Gln						p.L145Q	NM_019617	NP_062563	Q9NS71	GKN1_HUMAN			4	497	+			145			BRICHOS.		Q8IUA9	Missense_Mutation	SNP	ENST00000377938.2	37	c.434T>A	CCDS1891.2	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396763	0.83120	.	.	ENSG00000169605	ENST00000377938	T	0.81415	-1.49	5.35	5.35	0.76521	BRICHOS (2);	0.330560	0.25732	N	0.028673	D	0.89086	0.6615	M	0.78801	2.425	0.30522	N	0.76835	D	0.89917	1.0	D	0.85130	0.997	D	0.87893	0.2685	10	0.87932	D	0	-5.666	13.376	0.60739	0.0:0.0:0.0:1.0	.	145	Q9NS71	GKN1_HUMAN	Q	145	ENSP00000367172:L145Q	ENSP00000367172:L145Q	L	+	2	0	GKN1	69060625	0.992000	0.36948	0.123000	0.21794	0.494000	0.33585	4.344000	0.59354	2.257000	0.74773	0.529000	0.55759	CTG		0.502	GKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251769.2	NM_019617	
AMER3	205147	broad.mit.edu	37	2	131520943	131520943	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr2:131520943C>A	ENST00000423981.1	+	2	1408	c.1298C>A	c.(1297-1299)cCt>cAt	p.P433H	AMER3_ENST00000321420.4_Missense_Mutation_p.P433H	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	433					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)										AGCGAGGGTCCTCTTGGCCCC	0.657																																						uc021voy.1																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73						c.(1297-1299)cCt>cAt		Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.							39.0	39.0	39.0					2																	131520943		2203	4300	6503	SO:0001583	missense	205147							g.chr2:131520943C>A	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1298C>A	2.37:g.131520943C>A	ENSP00000392700:p.Pro433His					FAM123C_uc002trw.2_Missense_Mutation_p.P433H|FAM123C_uc010fmv.2_Missense_Mutation_p.P433H|FAM123C_uc010fms.1_Missense_Mutation_p.P433H|FAM123C_uc010fmt.1_Missense_Mutation_p.P433H|FAM123C_uc010fmu.1_Missense_Mutation_p.P433H	p.P433H	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	0	1298	+	Colorectal(110;0.1)		433					B7ZLH6	Missense_Mutation	SNP	ENST00000423981.1	37	c.1298C>A	CCDS2164.1	.	.	.	.	.	.	.	.	.	.	C	9.898	1.206163	0.22205	.	.	ENSG00000178171	ENST00000321420;ENST00000423981	T;T	0.49720	0.77;0.77	5.2	4.2	0.49525	.	0.470729	0.19226	N	0.119543	T	0.53530	0.1802	L	0.27053	0.805	0.09310	N	1	D	0.89917	1.0	D	0.74348	0.983	T	0.42916	-0.9423	10	0.62326	D	0.03	.	12.2992	0.54864	0.2047:0.7953:0.0:0.0	.	433	Q8N944	F123C_HUMAN	H	433	ENSP00000314914:P433H;ENSP00000392700:P433H	ENSP00000314914:P433H	P	+	2	0	FAM123C	131237413	0.212000	0.23540	0.154000	0.22540	0.006000	0.05464	2.085000	0.41634	2.602000	0.87976	0.561000	0.74099	CCT		0.657	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698	
BPIFA3	128861	broad.mit.edu	37	20	31814297	31814297	+	Splice_Site	SNP	G	G	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr20:31814297G>T	ENST00000375454.3	+	5	831		c.e5+1		BPIFA3_ENST00000490499.1_Splice_Site|BPIFA3_ENST00000375452.3_Splice_Site	NM_178466.3	NP_848561.2	Q9BQP9	BPIA3_HUMAN	BPI fold containing family A, member 3							extracellular region (GO:0005576)	lipid binding (GO:0008289)										AGAAAGTCAGGTAAGTTTAGA	0.393																																						uc002wyr.3																			0											c.e5+1		Homo sapiens BPI fold containing family A, member 3 (BPIFA3), transcript variant 1, mRNA.							75.0	69.0	71.0					20																	31814297		2203	4300	6503	SO:0001630	splice_region_variant	128861					extracellular region	lipid binding	g.chr20:31814297G>T		CCDS13216.2, CCDS42865.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000131059	ENSG00000131059		"""BPI fold containing"""	16204	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 71"""	C20orf71		11971875, 21787333	Standard	XR_244132		Approved	bA49G10.4, SPLUNC3	uc002wyr.3	Q9BQP9	OTTHUMG00000032245	ENST00000375454.3:c.621+1G>T	20.37:g.31814297G>T						BPIFA3_uc002wys.3_Splice_Site_p.Q171_splice	p.Q207_splice	NM_178466	NP_848561	Q9BQP9	SPLC3_HUMAN			5	829	+			207					Q5JWG8|Q6NZ38	Splice_Site	SNP	ENST00000375454.3	37	c.621_splice	CCDS13216.2	.	.	.	.	.	.	.	.	.	.	G	7.093	0.572485	0.13623	.	.	ENSG00000131059	ENST00000375454;ENST00000375452	.	.	.	3.62	3.62	0.41486	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.0655	0.47972	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	BPIFA3	31277958	1.000000	0.71417	0.995000	0.50966	0.023000	0.10783	3.655000	0.54460	2.338000	0.79540	0.462000	0.41574	.		0.393	BPIFA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078672.1	NM_178466	Intron
PTPRT	11122	broad.mit.edu	37	20	41306674	41306674	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr20:41306674T>C	ENST00000373187.1	-	7	984	c.985A>G	c.(985-987)Acc>Gcc	p.T329A	PTPRT_ENST00000373198.4_Missense_Mutation_p.T329A|PTPRT_ENST00000373193.3_Missense_Mutation_p.T329A|PTPRT_ENST00000373184.1_Missense_Mutation_p.T329A|PTPRT_ENST00000373190.1_Missense_Mutation_p.T329A|PTPRT_ENST00000373201.1_Missense_Mutation_p.T329A|PTPRT_ENST00000356100.2_Missense_Mutation_p.T329A			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	329	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTGTGGTGGTGCGATATTCC	0.557																																						uc002xkg.3																			0		p.R328C(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176						c.(985-987)Acc>Gcc		Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.							139.0	145.0	143.0					20																	41306674		2059	4209	6268	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:41306674T>C	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.985A>G	20.37:g.41306674T>C	ENSP00000362283:p.Thr329Ala					PTPRT_uc010ggj.3_Missense_Mutation_p.T329A	p.T329A	NM_007050	NP_008981	O14522	PTPRT_HUMAN			6	1169	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	329			Fibronectin type-III 1.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.985A>G	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432185	0.43122	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.42	5.42	0.78866	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.75889	0.3911	N	0.12471	0.22	0.54753	D	0.999984	D;D	0.67145	0.996;0.996	D;D	0.70227	0.945;0.968	T	0.72734	-0.4204	10	0.14656	T	0.56	.	15.4209	0.75009	0.0:0.0:0.0:1.0	.	329;329	O14522-1;O14522	.;PTPRT_HUMAN	A	329	ENSP00000362286:T329A;ENSP00000362283:T329A;ENSP00000362289:T329A;ENSP00000348408:T329A;ENSP00000362294:T329A;ENSP00000362280:T329A;ENSP00000362297:T329A	ENSP00000348408:T329A	T	-	1	0	PTPRT	40740088	1.000000	0.71417	0.998000	0.56505	0.557000	0.35523	6.249000	0.72427	2.184000	0.69523	0.533000	0.62120	ACC		0.557	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1		
OLIG2	10215	broad.mit.edu	37	21	34399532	34399532	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr21:34399532T>A	ENST00000333337.3	+	1	1290	c.362T>A	c.(361-363)aTg>aAg	p.M121K	AP000282.2_ENST00000454622.1_RNA|AP000282.2_ENST00000420356.1_RNA|OLIG2_ENST00000382357.3_Missense_Mutation_p.M121K			Q13516	OLIG2_HUMAN	oligodendrocyte lineage transcription factor 2	121	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				myelination (GO:0042552)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|positive regulation of oligodendrocyte differentiation (GO:0048714)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|thalamus development (GO:0021794)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|central_nervous_system(2)	3						CGCAAGCGCATGCACGACCTC	0.622			T	TRA@	T-ALL																																	uc002yqx.2				Dom	yes		21	21q22.11	10215	T	oligodendrocyte lineage transcription factor 2 (BHLHB1)			L	TRA@		T-ALL		0				breast(1)|central_nervous_system(2)	3						c.(361-363)aTg>aAg		Homo sapiens oligodendrocyte lineage transcription factor 2 (OLIG2), mRNA.							30.0	26.0	28.0					21																	34399532		2203	4300	6503	SO:0001583	missense	10215					cytoplasm|nucleus|plasma membrane	DNA binding	g.chr21:34399532T>A	U48250	CCDS13620.1	21q22.11	2013-05-21	2001-12-04	2001-12-07	ENSG00000205927	ENSG00000205927		"""Basic helix-loop-helix proteins"""	9398	protein-coding gene	gene with protein product	"""oligodendrocyte-specific bHLH transcription factor 2"", ""protein kinase C binding protein 2"", ""human protein kinase C-binding protein RACK17"", ""basic domain, helix-loop-helix protein, class B, 1"""	606386	"""protein kinase C binding protein 2"""	PRKCBP2, BHLHB1		11526205	Standard	NM_005806		Approved	RACK17, OLIGO2, bHLHe19	uc002yqx.2	Q13516	OTTHUMG00000065032	ENST00000333337.3:c.362T>A	21.37:g.34399532T>A	ENSP00000331040:p.Met121Lys					OLIG2_uc021wil.1_Missense_Mutation_p.M121K	p.M121K	NM_005806	NP_005797	Q13516	OLIG2_HUMAN			1	543	+			121			Helix-loop-helix motif.		B3KRF3|Q05BP9|Q49AL3|Q86X04|Q9NZ14	Missense_Mutation	SNP	ENST00000333337.3	37	c.362T>A	CCDS13620.1	.	.	.	.	.	.	.	.	.	.	T	22.8	4.334130	0.81801	.	.	ENSG00000205927	ENST00000382357;ENST00000333337	D;D	0.98060	-4.69;-4.69	3.27	3.27	0.37495	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	U	0.000000	D	0.99010	0.9662	H	0.96805	3.885	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.98925	1.0785	10	0.87932	D	0	.	10.7126	0.45993	0.0:0.0:0.0:1.0	.	121	Q13516	OLIG2_HUMAN	K	121	ENSP00000371794:M121K;ENSP00000331040:M121K	ENSP00000331040:M121K	M	+	2	0	OLIG2	33321402	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.817000	0.86213	1.331000	0.45412	0.379000	0.24179	ATG		0.622	OLIG2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139663.1	NM_005806	
COL6A2	1292	broad.mit.edu	37	21	47544566	47544566	+	Splice_Site	SNP	C	C	T	rs376303610		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr21:47544566C>T	ENST00000300527.4	+	22	1777	c.1673C>T	c.(1672-1674)gCg>gTg	p.A558V	COL6A2_ENST00000357838.4_Splice_Site_p.A558V|COL6A2_ENST00000409416.1_Splice_Site_p.A558V|COL6A2_ENST00000310645.5_Splice_Site_p.A558V|COL6A2_ENST00000397763.1_Splice_Site_p.A558V	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	558	Triple-helical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.A558V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCTTCTCAGGCGGATCCTGGT	0.672																																						uc002zia.1																			1	Substitution - Missense(1)	p.A558V(1)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43						c.e22-1		Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.		C	VAL/ALA,VAL/ALA,VAL/ALA	0,4406		0,0,2203	49.0	59.0	55.0		1673,1673,1673	4.1	1.0	21		55	1,8599	1.2+/-3.3	0,1,4299	no	missense-near-splice,missense-near-splice,missense-near-splice	COL6A2	NM_001849.3,NM_058174.2,NM_058175.2	64,64,64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	558/1020,558/919,558/829	47544566	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47544566C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.1672-1C>T	21.37:g.47544566C>T						COL6A2_uc002zhz.1_Splice_Site_p.A558_splice|COL6A2_uc002zhy.1_Splice_Site_p.A558_splice	p.A558_splice	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	22	1754	+	Breast(49;0.245)		558			Triple-helical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.1672_splice	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.662467	0.67700	0.0	1.16E-4	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763;ENST00000413758	D;D;D;D;D;D	0.93906	-3.31;-2.48;-3.31;-3.31;-2.48;-3.27	4.08	4.08	0.47627	.	0.055737	0.64402	D	0.000001	D	0.90573	0.7045	N	0.19112	0.55	0.40611	D	0.981674	D;D;D	0.56035	0.974;0.968;0.968	P;P;P	0.53185	0.72;0.598;0.598	D	0.90399	0.4401	10	0.39692	T	0.17	-9.0304	12.5266	0.56089	0.0:0.6896:0.3104:0.0	.	558;558;558	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	V	558;558;558;558;558;99	ENSP00000300527:A558V;ENSP00000350497:A558V;ENSP00000312529:A558V;ENSP00000387115:A558V;ENSP00000380870:A558V;ENSP00000395751:A99V	ENSP00000300527:A558V	A	+	2	0	COL6A2	46368994	1.000000	0.71417	0.993000	0.49108	0.607000	0.37147	4.099000	0.57755	1.852000	0.53769	0.585000	0.79938	GCG		0.672	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1		Missense_Mutation
RIMBP3B	440804	broad.mit.edu	37	22	21742628	21742629	+	Frame_Shift_Ins	INS	-	-	C	rs538343831	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr22:21742628_21742629insC	ENST00000434111.1	+	1	4966_4967	c.4481_4482insC	c.(4480-4485)gacaccfs	p.T1495fs	SCARNA18_ENST00000516505.1_RNA|RN7SKP63_ENST00000363187.1_RNA|SCARNA17_ENST00000516211.1_RNA	NM_001128635.1	NP_001122107.1	A6NNM3	RIM3B_HUMAN	RIMS binding protein 3B	1495	SH3 2. {ECO:0000255|PROSITE- ProRule:PRU00192}.																GGCTCTCAGGACACCCATGATT	0.559													?|C|CC|unsure	29	0.00579073	0.0204	0.0029	5008	,	,		14359	0.0		0.0	False		,,,				2504	0.0					uc002zuq.4																			0											c.(4480-4482)gacfs		Homo sapiens RIMS binding protein 3B (RIMBP3B), mRNA.				29,45		10,9,18						2.9	0.0			1	0,162		0,0,81	no	frameshift	RIMBP3B	NM_001128635.1		10,9,99	A1A1,A1R,RR		0.0,39.1892,12.2881				29,207				SO:0001589	frameshift_variant	150221							g.chr22:21742628_21742629insC		CCDS46668.1	22q11.21	2008-10-23			ENSG00000196934	ENSG00000274600			33891	protein-coding gene	gene with protein product		612700				17855024	Standard	NM_001128635		Approved			A6NNM3	OTTHUMG00000150819	ENST00000434111.1:c.4482dupC	22.37:g.21742629_21742629dupC	ENSP00000407925:p.Thr1495fs					RN7SK_uc021wmf.1_5'Flank	p.D1494fs	NM_001128635	NP_001122107					0	4966_4967	+									Frame_Shift_Ins	INS	ENST00000434111.1	37	c.4481_4482insC	CCDS46668.1																																																																																				0.559	RIMBP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320196.2	XM_036936	
LRIG1	26018	broad.mit.edu	37	3	66449417	66449417	+	Silent	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr3:66449417C>T	ENST00000273261.3	-	10	1733	c.1209G>A	c.(1207-1209)tcG>tcA	p.S403S	LRIG1_ENST00000383703.3_Silent_p.S427S|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	403					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTTCCAGCCCCGAGAATGCTC	0.522																																						uc003dmx.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(1207-1209)tcG>tcA		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.							69.0	59.0	62.0					3																	66449417		2203	4300	6503	SO:0001819	synonymous_variant	26018					integral to membrane		g.chr3:66449417C>T	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.1209G>A	3.37:g.66449417C>T						LRIG1_uc011bfu.2_Silent_p.S23S|LRIG1_uc003dmw.3_Silent_p.S69S|LRIG1_uc010hnz.3_Intron|LRIG1_uc010hoa.3_Silent_p.S427S	p.S403S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	9	1223	-		Lung NSC(201;0.0101)	403					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	ENST00000273261.3	37	c.1209G>A	CCDS33783.1																																																																																				0.522	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
PHC3	80012	broad.mit.edu	37	3	169896635	169896637	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr3:169896635_169896637delTGG	ENST00000494943.1	-	2	136_138	c.68_70delCCA	c.(67-72)accatc>atc	p.T23del	PHC3_ENST00000467570.1_In_Frame_Del_p.T35del|PHC3_ENST00000474275.1_In_Frame_Del_p.T23del|PHC3_ENST00000495893.2_In_Frame_Del_p.T35del|PHC3_ENST00000497658.1_In_Frame_Del_p.T35del|PHC3_ENST00000481639.1_In_Frame_Del_p.T35del			Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)	23	Poly-Thr.				multicellular organismal development (GO:0007275)	actin cytoskeleton (GO:0015629)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAgtggtgatggtggtggtggt	0.493																																						uc003fgl.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26						c.(103-108)accatc>atc		Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.				6,3998		2,2,1998						3.6	1.0			276	21,8059		10,1,4029	no	coding	PHC3	NM_024947.3		12,3,6027	A1A1,A1R,RR		0.2599,0.1499,0.2234				27,12057				SO:0001651	inframe_deletion	80012				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding	g.chr3:169896635_169896637delTGG		CCDS46952.1	3q26.32	2014-01-28	2006-09-12		ENSG00000173889	ENSG00000173889		"""Sterile alpha motif (SAM) domain containing"""	15682	protein-coding gene	gene with protein product	"""early development regulator 3"", ""polyhomeotic like 3"""		"""polyhomeotic like 3 (Drosophila)"""			12167701, 12384788	Standard	NM_024947		Approved	EDR3, FLJ12967, FLJ12729, HPH3	uc003fgl.2	Q8NDX5	OTTHUMG00000158777	ENST00000494943.1:c.68_70delCCA	3.37:g.169896644_169896646delTGG	ENSP00000420271:p.Thr23del					PHC3_uc010hws.1_In_Frame_Del_p.T23del|PHC3_uc011bpq.1_In_Frame_Del_p.T35del|PHC3_uc011bpr.1_In_Frame_Del_p.T35del|PHC3_uc003fgm.2_In_Frame_Del_p.T35del|PHC3_uc003fgo.1_In_Frame_Del_p.T23del|PHC3_uc003fgp.3_In_Frame_Del_p.T35del|PHC3_uc003fgq.3_In_Frame_Del_p.T35del|PHC3_uc003fgr.1_Non-coding_Transcript	p.T35del	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)		1	138_140	-	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		23					A2RRP9|Q5HYF0|Q6NSG2|Q8NFT7|Q8NFZ1|Q8TBM2|Q9H971|Q9H9I4	In_Frame_Del	DEL	ENST00000494943.1	37	c.104_106delCCA																																																																																					0.493	PHC3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000352182.3	NM_024947	
FGFR3	2261	broad.mit.edu	37	4	1808950	1808951	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:1808950_1808951insC	ENST00000260795.2	+	17	2484_2485	c.2382_2383insC	c.(2383-2385)cccfs	p.P795fs	FGFR3_ENST00000481110.2_Frame_Shift_Ins_p.A772fs|FGFR3_ENST00000440486.2_Frame_Shift_Ins_p.P795fs|FGFR3_ENST00000352904.1_Frame_Shift_Ins_p.P683fs|FGFR3_ENST00000340107.4_Frame_Shift_Ins_p.P797fs|FGFR3_ENST00000412135.2_Frame_Shift_Ins_p.P683fs			P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	795					alveolar secondary septum development (GO:0061144)|axonogenesis involved in innervation (GO:0060385)|bone maturation (GO:0070977)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cell-cell signaling (GO:0007267)|central nervous system myelination (GO:0022010)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|cochlea development (GO:0090102)|digestive tract morphogenesis (GO:0048546)|endochondral bone growth (GO:0003416)|endochondral ossification (GO:0001958)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell fate commitment (GO:0072148)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor apoptotic signaling pathway (GO:1902178)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inner ear receptor cell differentiation (GO:0060113)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade (GO:0007259)|lens fiber cell development (GO:0070307)|lens morphogenesis in camera-type eye (GO:0002089)|MAPK cascade (GO:0000165)|morphogenesis of an epithelium (GO:0002009)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of developmental growth (GO:0048640)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|protein tyrosine kinase activity (GO:0004713)	p.P795fs*139(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)|Pazopanib(DB06589)|Ponatinib(DB08901)	ACGACCTGCTGCCCCCGGCCCC	0.688		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome																													uc003gdr.3		1		Dom	yes		4	4p16.3	2261	"""Mis, T"""	fibroblast growth factor receptor 3	yes	"""Hypochondroplasia, Thanatophoric dysplasia"""	"""L, E"""	"""IGH@, ETV6"""		"""bladder, MM, T-cell lymphoma"""		1	Complex - frameshift(1)	p.P795fs*139(2)|p.L794fs*23(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091						c.(2380-2385)ctgcccfs		Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	Palifermin(DB00039)																																			SO:0001589	frameshift_variant	2261	Saethre-Chotzen syndrome;Muenke syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Muenke Nonsyndromic Coronal Craniosynostosis, FGFR3-related Craniosynostosis	bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	g.chr4:1808950_1808951insC	M64347	CCDS3353.1, CCDS3354.1, CCDS54706.1	4p16.3	2013-01-11	2008-08-01		ENSG00000068078	ENSG00000068078		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3690	protein-coding gene	gene with protein product		134934	"""achondroplasia, thanatophoric dwarfism"""	ACH		1847508	Standard	NM_000142		Approved	CEK2, JTK4, CD333	uc003gdu.2	P22607	OTTHUMG00000121148	ENST00000260795.2:c.2387dupC	4.37:g.1808955_1808955dupC	ENSP00000260795:p.Pro795fs					FGFR3_uc003gdu.2_Frame_Shift_Ins_p.L796fs|FGFR3_uc003gds.3_Frame_Shift_Ins_p.L682fs|FGFR3_uc003gdq.3_Frame_Shift_Ins_p.A772fs	p.L794fs	NM_000142	NP_000133	P22607	FGFR3_HUMAN	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		17	2638_2639	+		Breast(71;0.212)|all_epithelial(65;0.241)	794					D3DVP9|D3DVQ0|Q14308|Q16294|Q16608|Q59FL9	Frame_Shift_Ins	INS	ENST00000260795.2	37	c.2382_2383insC	CCDS3353.1																																																																																				0.688	FGFR3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000241632.2	NM_000142	
DRD5	1816	broad.mit.edu	37	4	9784011	9784011	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:9784011G>A	ENST00000304374.2	+	1	754	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	120					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGTGGCCTTCGACATCATGTG	0.617																																						uc003gmb.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(358-360)Gac>Aac		Homo sapiens dopamine receptor D5 (DRD5), mRNA.	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						52.0	50.0	51.0					4																	9784011		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784011G>A	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.358G>A	4.37:g.9784011G>A	ENSP00000306129:p.Asp120Asn						p.D120N	NM_000798	NP_000789	P21918	DRD5_HUMAN			0	754	+			120					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.358G>A	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	24.8	4.573227	0.86542	.	.	ENSG00000169676	ENST00000304374	T	0.37752	1.18	4.11	4.11	0.48088	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.70666	0.3250	H	0.95437	3.67	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81632	-0.0845	10	0.87932	D	0	.	15.5246	0.75894	0.0:0.0:1.0:0.0	.	120	P21918	DRD5_HUMAN	N	120	ENSP00000306129:D120N	ENSP00000306129:D120N	D	+	1	0	DRD5	9393109	1.000000	0.71417	0.989000	0.46669	0.936000	0.57629	9.199000	0.95003	2.130000	0.65690	0.305000	0.20034	GAC		0.617	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
KIT	3815	broad.mit.edu	37	4	55561758	55561758	+	Missense_Mutation	SNP	G	G	A	rs200950545		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:55561758G>A	ENST00000288135.5	+	2	245	c.148G>A	c.(148-150)Gtg>Atg	p.V50M		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	50	Ig-like C2-type 1.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V50M(2)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATAGTCCGCGTGGGCGACGA	0.468		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													uc010igr.3		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		2	Substitution - Missense(2)	p.V50M(4)	large_intestine(1)|central_nervous_system(1)	NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411						c.(148-150)Gtg>Atg		Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						117.0	104.0	108.0					4																	55561758		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55561758G>A	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.148G>A	4.37:g.55561758G>A	ENSP00000288135:p.Val50Met					KIT_uc010igs.3_Missense_Mutation_p.V50M	p.V50M	NM_000222	NP_000213	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	1	235	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		50			Ig-like C2-type 1.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.148G>A	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	9.131	1.011355	0.19277	.	.	ENSG00000157404	ENST00000288135;ENST00000412167;ENST00000536403	T;T	0.12465	2.68;2.68	5.19	4.28	0.50868	Immunoglobulin-like fold (1);	1.342190	0.05132	N	0.492744	T	0.11965	0.0291	N	0.17474	0.49	0.09310	N	1	P;P	0.52061	0.95;0.926	B;P	0.46685	0.273;0.524	T	0.10706	-1.0618	10	0.37606	T	0.19	.	5.8268	0.18558	0.0967:0.0:0.6994:0.2039	.	50;50	P10721-2;P10721	.;KIT_HUMAN	M	50	ENSP00000288135:V50M;ENSP00000390987:V50M	ENSP00000288135:V50M	V	+	1	0	KIT	55256515	0.026000	0.19158	0.006000	0.13384	0.001000	0.01503	2.646000	0.46630	2.706000	0.92434	0.650000	0.86243	GTG		0.468	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
SLC4A4	8671	broad.mit.edu	37	4	72338689	72338689	+	Splice_Site	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:72338689T>C	ENST00000264485.5	+	14	2020		c.e14+2		SLC4A4_ENST00000351898.6_Splice_Site|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000340595.3_Splice_Site|SLC4A4_ENST00000512686.1_Silent_p.G591G|SLC4A4_ENST00000425175.1_Splice_Site	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CTGACCCAGGTGAGGGCATTA	0.463																																						uc010iic.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.e14+2		Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.							109.0	111.0	110.0					4																	72338689		2202	4299	6501	SO:0001630	splice_region_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72338689T>C	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.1903+2T>C	4.37:g.72338689T>C						SLC4A4_uc003hfy.3_Splice_Site_p.A635_splice|SLC4A4_uc010iib.3_Splice_Site_p.A635_splice|SLC4A4_uc003hfz.3_Splice_Site_p.A635_splice|SLC4A4_uc003hgc.4_Splice_Site_p.A591_splice|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Silent_p.G513G|SLC4A4_uc003hgb.3_Silent_p.G591G	p.A635_splice	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		14	2020	+			635					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Splice_Site	SNP	ENST00000264485.5	37	c.1903_splice	CCDS43236.1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.407184	0.83230	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000351898;ENST00000340595	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3379	0.74273	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC4A4	72557553	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.989000	0.88205	2.027000	0.59764	0.482000	0.46254	.		0.463	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759	Intron
NUDT9	53343	broad.mit.edu	37	4	88362984	88362984	+	Silent	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:88362984T>C	ENST00000302174.4	+	4	771	c.447T>C	c.(445-447)aaT>aaC	p.N149N	NUDT9_ENST00000473942.1_Silent_p.N99N	NM_024047.4	NP_076952.1	Q9BW91	NUDT9_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 9	149					ADP catabolic process (GO:0046032)|IDP catabolic process (GO:0046709)|nucleobase-containing small molecule catabolic process (GO:0034656)|nucleobase-containing small molecule metabolic process (GO:0055086)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrial matrix (GO:0005759)	adenosine-diphosphatase activity (GO:0043262)|ADP-ribose diphosphatase activity (GO:0047631)|ADP-sugar diphosphatase activity (GO:0019144)			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		TTTCCAGAAATCCTGCAGGAC	0.418																																						uc003hqq.3																			0				endometrium(1)|large_intestine(4)|lung(6)	11						c.(445-447)aaT>aaC		Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 9 (NUDT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							40.0	43.0	42.0					4																	88362984		2203	4300	6503	SO:0001819	synonymous_variant	53343					mitochondrion	ADP-ribose diphosphatase activity	g.chr4:88362984T>C	AY026252	CCDS3620.1, CCDS3621.1	4q22.1	2008-08-29			ENSG00000170502	ENSG00000170502		"""Nudix motif containing"""	8056	protein-coding gene	gene with protein product		606022				11385575, 12427752	Standard	NM_024047		Approved	MGC3037	uc003hqq.3	Q9BW91	OTTHUMG00000130591	ENST00000302174.4:c.447T>C	4.37:g.88362984T>C						NUDT9_uc010ikl.3_Silent_p.N117N|NUDT9_uc003hqr.3_Silent_p.N99N	p.N149N	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000937)	3	777	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	149					Q8NBN1|Q8NCB9|Q8NG25	Silent	SNP	ENST00000302174.4	37	c.447T>C	CCDS3620.1																																																																																				0.418	NUDT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253035.2		
PRDM9	56979	broad.mit.edu	37	5	23524499	23524499	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:23524499A>T	ENST00000296682.3	+	10	1189	c.1007A>T	c.(1006-1008)cAc>cTc	p.H336L		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	336	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				meiotic gene conversion (GO:0006311)|positive regulation of meiosis I (GO:0060903)|positive regulation of reciprocal meiotic recombination (GO:0010845)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|metal ion binding (GO:0046872)|recombination hotspot binding (GO:0010844)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTCCAGTACCACAGGCAGATC	0.537										HNSCC(3;0.000094)																												uc003jgo.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						c.(1006-1008)cAc>cTc		Homo sapiens PR domain containing 9 (PRDM9), mRNA.							67.0	69.0	68.0					5																	23524499		1895	4101	5996	SO:0001583	missense	56979				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	g.chr5:23524499A>T	AF275816	CCDS43307.1	5p14.2	2014-06-03			ENSG00000164256	ENSG00000164256		"""-"", ""Zinc fingers, C2H2-type"""	13994	protein-coding gene	gene with protein product	"""PR-domain containing protein 9"""	609760	"""minisatellite binding protein 3, 115kDa"", ""minisatellite binding protein 3 (115kD)"""	MSBP3		10668202, 2062643, 24634223	Standard	NM_020227		Approved	PFM6, ZNF899	uc003jgo.3	Q9NQV7	OTTHUMG00000161918	ENST00000296682.3:c.1007A>T	5.37:g.23524499A>T	ENSP00000296682:p.His336Leu	HNSCC(3;0.000094)					p.H336L	NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN			9	1189	+			336			SET.		B4DX22|Q27Q50	Missense_Mutation	SNP	ENST00000296682.3	37	c.1007A>T	CCDS43307.1	.	.	.	.	.	.	.	.	.	.	A	19.51	3.840314	0.71488	.	.	ENSG00000164256	ENST00000296682;ENST00000253473	T	0.41065	1.01	4.23	4.23	0.50019	SET domain (2);	.	.	.	.	T	0.30978	0.0782	L	0.28608	0.87	0.36972	D	0.893855	P	0.49185	0.92	B	0.41236	0.351	T	0.40156	-0.9578	9	0.72032	D	0.01	-18.9179	10.0182	0.42027	1.0:0.0:0.0:0.0	.	336	Q9NQV7	PRDM9_HUMAN	L	336;130	ENSP00000296682:H336L	ENSP00000253473:H130L	H	+	2	0	PRDM9	23560256	0.932000	0.31603	1.000000	0.80357	0.989000	0.77384	2.271000	0.43364	1.687000	0.51057	0.487000	0.48397	CAC		0.537	PRDM9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366375.1	NM_020227	
CDH9	1007	broad.mit.edu	37	5	26906907	26906907	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:26906907G>A	ENST00000231021.4	-	4	736	c.564C>T	c.(562-564)gaC>gaT	p.D188D		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	188	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)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATAGTTGGCGTCATCTGCAT	0.403																																					Melanoma(8;187 585 15745 40864 52829)	uc003jgs.1																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(562-564)gaC>gaT		Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.							135.0	120.0	125.0					5																	26906907		2203	4300	6503	SO:0001819	synonymous_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26906907G>A	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.564C>T	5.37:g.26906907G>A						CDH9_uc010iug.3_Silent_p.D188D	p.D188D	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN			3	733	-			188			Cadherin 2.		Q3B7I5	Silent	SNP	ENST00000231021.4	37	c.564C>T	CCDS3893.1																																																																																				0.403	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279	
FBN2	2201	broad.mit.edu	37	5	127712445	127712445	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:127712445G>C	ENST00000508053.1	-	20	2925	c.1951C>G	c.(1951-1953)Cca>Gca	p.P651A	FBN2_ENST00000262464.4_Missense_Mutation_p.P651A|FBN2_ENST00000508989.1_Missense_Mutation_p.P618A|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	651	EGF-like 9; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGCCCATTTGGAGCCAAGACA	0.398																																						uc003kuu.3																			0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197						c.(1951-1953)Cca>Gca		Homo sapiens fibrillin 2 (FBN2), mRNA.							238.0	204.0	215.0					5																	127712445		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127712445G>C	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1951C>G	5.37:g.127712445G>C	ENSP00000424571:p.Pro651Ala					FBN2_uc003kuv.2_Missense_Mutation_p.P618A	p.P651A	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	13	2390	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	651			EGF-like 9; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.1951C>G	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	G	15.72	2.915703	0.52546	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.87571	-2.27;-2.27;-2.27	4.63	4.63	0.57726	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.077984	0.52532	D	0.000066	D	0.85745	0.5768	N	0.20881	0.62	0.47862	D	0.999534	D;B	0.64830	0.994;0.399	P;B	0.59056	0.851;0.301	D	0.84347	0.0530	10	0.40728	T	0.16	.	12.1908	0.54270	0.0792:0.0:0.9208:0.0	.	618;651	D6RJI3;P35556	.;FBN2_HUMAN	A	651;651;618	ENSP00000262464:P651A;ENSP00000424571:P651A;ENSP00000425596:P618A	ENSP00000262464:P651A	P	-	1	0	FBN2	127740344	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.450000	0.35134	2.865000	0.98341	0.655000	0.94253	CCA		0.398	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
PCDHB11	56125	broad.mit.edu	37	5	140580521	140580521	+	Missense_Mutation	SNP	G	G	A	rs201835076		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:140580521G>A	ENST00000354757.3	+	1	1174	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	PCDHB11_ENST00000536699.1_Missense_Mutation_p.V27M	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	392	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V392M(1)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCCATTCGTGCTAAAATC	0.453																																						uc003liy.3																			1	Substitution - Missense(1)	p.V392M(2)	large_intestine(1)	NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63						c.(1174-1176)Gtg>Atg		Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.							115.0	115.0	115.0					5																	140580521		2203	4300	6503	SO:0001583	missense	56125				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140580521G>A	AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.1174G>A	5.37:g.140580521G>A	ENSP00000346802:p.Val392Met						p.V392M	NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	1174	+			392			Cadherin 4.		B4DSF7|Q2M223	Missense_Mutation	SNP	ENST00000354757.3	37	c.1174G>A	CCDS4253.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.853054	0.32699	.	.	ENSG00000197479	ENST00000536699;ENST00000354757;ENST00000536825	T;T	0.60672	0.17;4.64	2.52	-5.04	0.02964	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.48554	0.1506	L	0.53617	1.68	0.09310	N	1	P	0.39940	0.696	B	0.42343	0.384	T	0.46843	-0.9162	9	0.51188	T	0.08	.	6.0648	0.19858	0.2939:0.3788:0.3273:0.0	.	392	Q9Y5F2	PCDBB_HUMAN	M	27;392;80	ENSP00000440344:V27M;ENSP00000346802:V392M	ENSP00000346802:V392M	V	+	1	0	PCDHB11	140560705	0.000000	0.05858	0.000000	0.03702	0.942000	0.58702	-6.600000	0.00060	-1.295000	0.02357	0.306000	0.20318	GTG		0.453	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251813.1	NM_018931	
PRSS16	10279	broad.mit.edu	37	6	27219612	27219612	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:27219612G>A	ENST00000230582.3	+	8	816	c.801G>A	c.(799-801)acG>acA	p.T267T	PRSS16_ENST00000421826.2_Intron|PRSS16_ENST00000377456.2_3'UTR	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	267					protein catabolic process (GO:0030163)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|lysosome (GO:0005764)	serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CATTGCGGACGGAGCTGAGCG	0.697																																					NSCLC(178;1118 2105 17078 23587 44429)	uc003nja.3																			0				central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						c.(799-801)acG>acA		Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.							19.0	25.0	23.0					6																	27219612		2185	4276	6461	SO:0001819	synonymous_variant	10279				protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	g.chr6:27219612G>A	AF052514	CCDS4623.1	6p21	2010-05-07			ENSG00000112812	ENSG00000112812		"""Serine peptidases / Serine peptidases"""	9480	protein-coding gene	gene with protein product		607169				10527559	Standard	NM_005865		Approved	TSSP	uc003nja.3	Q9NQE7	OTTHUMG00000016167	ENST00000230582.3:c.801G>A	6.37:g.27219612G>A						PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc010jqq.1_Intron|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njd.3_Non-coding_Transcript	p.T267T	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN			7	816	+			267					O75416	Silent	SNP	ENST00000230582.3	37	c.801G>A	CCDS4623.1																																																																																				0.697	PRSS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043418.2		
PIM1	5292	broad.mit.edu	37	6	37138555	37138557	+	In_Frame_Del	DEL	AGA	AGA	-	rs537732412		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:37138555_37138557delAGA	ENST00000373509.5	+	2	462_464	c.89_91delAGA	c.(88-93)gagaag>gag	p.K31del		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	Pim-1 proto-oncogene, serine/threonine kinase	122					apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|hyaluronan metabolic process (GO:0030212)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|manganese ion binding (GO:0030145)|protein serine/threonine kinase activity (GO:0004674)|ribosomal small subunit binding (GO:0043024)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CTAGGCAAGGAGAAGGAGCCCCT	0.714			T	BCL6	NHL																																	uc003onk.3				Dom	yes		6	6p21.2	5292	T	pim-1 oncogene			L	BCL6		NHL		0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30						c.(88-93)gagaag>gag		Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA.	Adenosine monophosphate(DB00131)																																			SO:0001651	inframe_deletion	5292				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding	g.chr6:37138555_37138557delAGA		CCDS4830.1	6p21	2014-06-25	2014-06-25		ENSG00000137193	ENSG00000137193			8986	protein-coding gene	gene with protein product		164960	"""pim-1 oncogene"""	PIM			Standard	NM_002648		Approved		uc003onk.3	P11309	OTTHUMG00000016426	ENST00000373509.5:c.89_91delAGA	6.37:g.37138555_37138557delAGA	ENSP00000362608:p.Lys31del					PIM1_uc011dtw.2_5'Flank	p.K31del	NM_002648	NP_002639	P11309	PIM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		1	519_521	+			122					Q38RT9|Q5T7H7|Q96RG3	In_Frame_Del	DEL	ENST00000373509.5	37	c.89_91delAGA	CCDS4830.1																																																																																				0.714	PIM1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043903.1		
KCNK5	8645	broad.mit.edu	37	6	39162433	39162433	+	Silent	SNP	G	G	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:39162433G>T	ENST00000359534.3	-	3	740	c.402C>A	c.(400-402)ggC>ggA	p.G134G		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	134					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGAAGAACTTGCCCAGGGCAC	0.597																																						uc003oon.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(400-402)ggC>ggA		Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.							122.0	111.0	115.0					6																	39162433		2203	4300	6503	SO:0001819	synonymous_variant	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39162433G>T	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.402C>A	6.37:g.39162433G>T							p.G134G	NM_003740	NP_003731	O95279	KCNK5_HUMAN			2	766	-			134					B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	ENST00000359534.3	37	c.402C>A	CCDS4841.1																																																																																				0.597	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740	
HTR1E	3354	broad.mit.edu	37	6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A	rs200719637		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:87725488G>A	ENST00000305344.5	+	2	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	146					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|negative regulation of cAMP metabolic process (GO:0030815)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)	p.V146I(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Aripiprazole(DB01238)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ketamine(DB01221)|Loxapine(DB00408)|Methysergide(DB00247)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	GATCCTTACCGTCTGGACCAT	0.582																																						uc003pli.3																			2	Substitution - Missense(2)	p.V146I(4)	large_intestine(1)|endometrium(1)	breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41						c.(436-438)Gtc>Atc		Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	Eletriptan(DB00216)						108.0	94.0	99.0					6																	87725488		2203	4300	6503	SO:0001583	missense	3354				G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	g.chr6:87725488G>A		CCDS5006.1	6q14-q15	2013-06-19	2012-02-03		ENSG00000168830	ENSG00000168830		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5291	protein-coding gene	gene with protein product		182132	"""5-hydroxytryptamine (serotonin) receptor 1E"""			1608964	Standard	NM_000865		Approved	5-HT1E	uc003pli.3	P28566	OTTHUMG00000015154	ENST00000305344.5:c.436G>A	6.37:g.87725488G>A	ENSP00000307766:p.Val146Ile					HTR1E_uc021zcg.1_Missense_Mutation_p.V146I	p.V146I	NM_000865	NP_000856	P28566	5HT1E_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.055)	1	1139	+		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)	146					E1P503|Q9P1Y1	Missense_Mutation	SNP	ENST00000305344.5	37	c.436G>A	CCDS5006.1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.640966	0.67244	.	.	ENSG00000168830	ENST00000305344;ENST00000369584	T;T	0.73152	-0.72;-0.72	4.26	4.26	0.50523	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	U	0.000069	T	0.78477	0.4289	M	0.69358	2.11	0.44834	D	0.997845	D	0.76494	0.999	D	0.68483	0.958	T	0.82133	-0.0608	10	0.72032	D	0.01	.	16.6564	0.85229	0.0:0.0:1.0:0.0	.	146	P28566	5HT1E_HUMAN	I	146	ENSP00000307766:V146I;ENSP00000358597:V146I	ENSP00000307766:V146I	V	+	1	0	HTR1E	87782207	1.000000	0.71417	0.986000	0.45419	0.941000	0.58515	7.241000	0.78201	1.929000	0.55896	0.404000	0.27445	GTC		0.582	HTR1E-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000472488.2	NM_000865	
PTPRK	5796	broad.mit.edu	37	6	128319982	128319982	+	Silent	SNP	C	C	T	rs141454620		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:128319982C>T	ENST00000368215.3	-	16	2558	c.2559G>A	c.(2557-2559)ggG>ggA	p.G853G	PTPRK_ENST00000524481.1_5'Flank|PTPRK_ENST00000532331.1_Silent_p.G870G|PTPRK_ENST00000368207.3_Silent_p.G880G|PTPRK_ENST00000368226.4_Silent_p.G854G|PTPRK_ENST00000368213.5_Silent_p.G854G|PTPRK_ENST00000368210.3_Silent_p.G866G|PTPRK_ENST00000368227.3_Silent_p.G866G			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	853					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGGATTCCGTCCCCTCACAGA	0.478																																						uc003qbk.3																		PTPRK/RSPO3(10)	0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						c.(2557-2559)ggG>ggA		Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.							118.0	100.0	106.0					6																	128319982		2203	4300	6503	SO:0001819	synonymous_variant	5796				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr6:128319982C>T	L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.2559G>A	6.37:g.128319982C>T						PTPRK_uc010kfc.3_Silent_p.G854G|PTPRK_uc003qbj.3_Silent_p.G854G|PTPRK_uc011ebu.2_Silent_p.G870G|PTPRK_uc010kfd.1_Silent_p.G79G	p.G853G	NM_002844	NP_002835	Q15262	PTPRK_HUMAN		all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)	15	2926	-			853					B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	ENST00000368215.3	37	c.2559G>A		1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	9.559	1.117932	0.20877	.	.	ENSG00000152894	ENST00000415046	T	0.05855	3.38	5.75	3.93	0.45458	.	0.000000	0.85682	D	0.000000	T	0.02848	0.0085	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50056	-0.8872	7	0.31617	T	0.26	.	3.148	0.06478	0.1244:0.4812:0.2459:0.1485	.	.	.	.	E	147	ENSP00000406825:G147E	ENSP00000406825:G147E	G	-	2	0	PTPRK	128361675	0.994000	0.37717	0.998000	0.56505	0.966000	0.64601	0.369000	0.20416	0.722000	0.32252	0.650000	0.86243	GGA		0.478	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000042163.1		
SKAP2	8935	broad.mit.edu	37	7	26766511	26766511	+	Missense_Mutation	SNP	C	C	T	rs199985669		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:26766511C>T	ENST00000345317.2	-	7	897	c.584G>A	c.(583-585)cGt>cAt	p.R195H	SKAP2_ENST00000489977.1_5'UTR|SKAP2_ENST00000539623.1_Missense_Mutation_p.R23H	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	195	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				B cell activation (GO:0042113)|negative regulation of cell proliferation (GO:0008285)|positive regulation of signal transduction (GO:0009967)|protein complex assembly (GO:0006461)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)	p.R195H(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CTGATATATACGTTTATCAGG	0.303													C|||	1	0.000199681	0.0	0.0	5008	,	,		16406	0.001		0.0	False		,,,				2504	0.0					uc003syc.3																			1	Substitution - Missense(1)	p.R195H(2)|p.R195G(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						c.(583-585)cGt>cAt		Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.							93.0	86.0	88.0					7																	26766511		2202	4299	6501	SO:0001583	missense	8935				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	g.chr7:26766511C>T		CCDS5400.1	7p15.2	2013-01-10	2006-09-28	2006-09-28	ENSG00000005020	ENSG00000005020		"""Pleckstrin homology (PH) domain containing"""	15687	protein-coding gene	gene with protein product		605215	"""src family associated phosphoprotein 2"""	SCAP2		9837776, 9755858	Standard	NM_003930		Approved	RA70, SKAP-HOM, SKAP55R, SAPS	uc003syc.3	O75563	OTTHUMG00000023495	ENST00000345317.2:c.584G>A	7.37:g.26766511C>T	ENSP00000005587:p.Arg195His					SKAP2_uc011jzi.2_Missense_Mutation_p.R23H|SKAP2_uc011jzj.2_Missense_Mutation_p.R180H	p.R195H	NM_003930	NP_003921	O75563	SKAP2_HUMAN			6	877	-			195			PH.		A4D173|Q53GP6|Q75MK6|Q75MZ4|Q9UBZ3|Q9UED8	Missense_Mutation	SNP	ENST00000345317.2	37	c.584G>A	CCDS5400.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	23.1	4.377223	0.82682	.	.	ENSG00000005020	ENST00000345317;ENST00000539623;ENST00000535331	T;T	0.17691	2.26;2.26	5.71	5.71	0.89125	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.51924	0.1703	M	0.88310	2.945	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	T	0.58188	-0.7680	10	0.66056	D	0.02	-16.3262	19.921	0.97085	0.0:1.0:0.0:0.0	.	180;195	B7Z5N4;O75563	.;SKAP2_HUMAN	H	195;23;180	ENSP00000005587:R195H;ENSP00000443593:R23H	ENSP00000005587:R195H	R	-	2	0	SKAP2	26733036	1.000000	0.71417	0.978000	0.43139	0.992000	0.81027	7.484000	0.81180	2.712000	0.92718	0.644000	0.83932	CGT		0.303	SKAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214128.1		
NME8	51314	broad.mit.edu	37	7	37901681	37901682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:37901681_37901682insC	ENST00000199447.4	+	7	694_695	c.322_323insC	c.(322-324)aaafs	p.K108fs	NME8_ENST00000440017.1_Frame_Shift_Ins_p.K108fs|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	108	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										GCTTGTTAATAAAAAAGTTATT	0.376																																						uc003tfn.3																			0											c.(322-324)aaafs		Homo sapiens thioredoxin domain containing 3 (spermatozoa) (TXNDC3), mRNA.																																				SO:0001589	frameshift_variant	51314				cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process	cytoplasm|microtubule cytoskeleton	ATP binding|nucleoside diphosphate kinase activity	g.chr7:37901681_37901682insC	AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	Exception_encountered	7.37:g.37901681_37901682insC	ENSP00000199447:p.Lys108fs						p.K108fs	NM_016616	NP_057700	Q8N427	TXND3_HUMAN			6	694_695	+			108			Thioredoxin.		Q9NZH1	Frame_Shift_Ins	INS	ENST00000199447.4	37	c.322_323insC	CCDS5452.1																																																																																				0.376	NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
GRB10	2887	broad.mit.edu	37	7	50660761	50660761	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:50660761T>C	ENST00000401949.1	-	19	2142	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	GRB10_ENST00000357271.5_Missense_Mutation_p.D512G|GRB10_ENST00000402578.1_Missense_Mutation_p.D500G|GRB10_ENST00000439599.1_Missense_Mutation_p.D552G|GRB10_ENST00000407526.1_Missense_Mutation_p.D500G|GRB10_ENST00000406641.1_Missense_Mutation_p.D500G|GRB10_ENST00000402497.1_Missense_Mutation_p.D500G|GRB10_ENST00000335866.3_Missense_Mutation_p.D500G|GRB10_ENST00000403097.1_Missense_Mutation_p.D552G|GRB10_ENST00000398810.2_Missense_Mutation_p.D500G|GRB10_ENST00000398812.2_Missense_Mutation_p.D558G			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	558	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.		D -> H (in dbSNP:rs11768472).		insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GTTCCCGTCATCTAGGCTGAA	0.547									Russell-Silver syndrome																													uc003tpi.2																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41						c.(1672-1674)gAt>gGt		Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.							127.0	129.0	128.0					7																	50660761		2083	4203	6286	SO:0001583	missense	2887	Russell-Silver syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50660761T>C		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1673A>G	7.37:g.50660761T>C	ENSP00000385770:p.Asp558Gly					GRB10_uc003tph.3_Missense_Mutation_p.D500G|GRB10_uc003tpj.2_Missense_Mutation_p.D512G|GRB10_uc003tpk.2_Missense_Mutation_p.D558G|GRB10_uc010kzb.2_Missense_Mutation_p.D500G|GRB10_uc003tpl.2_Missense_Mutation_p.D552G|GRB10_uc003tpm.2_Missense_Mutation_p.D500G	p.D558G	NM_005311	NP_005302	Q13322	GRB10_HUMAN			15	1719	-	Glioma(55;0.08)|all_neural(89;0.245)		558		D -> H (in dbSNP:rs11768472).	SH2.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Missense_Mutation	SNP	ENST00000401949.1	37	c.1673A>G	CCDS43582.1	.	.	.	.	.	.	.	.	.	.	T	27.5	4.840000	0.91117	.	.	ENSG00000106070	ENST00000398812;ENST00000439599;ENST00000335866;ENST00000398810;ENST00000402578;ENST00000403097;ENST00000406641;ENST00000357271;ENST00000407526;ENST00000401949;ENST00000398791;ENST00000402497	T;T;T;T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.88	5.88	0.94601	SH2 motif (4);	0.043795	0.85682	N	0.000000	T	0.61413	0.2345	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.63747	-0.6567	10	0.87932	D	0	-32.653	16.2879	0.82732	0.0:0.0:0.0:1.0	.	552;512;558	Q13322-4;Q13322-2;Q13322	.;.;GRB10_HUMAN	G	558;552;500;500;500;552;500;512;500;558;90;500	ENSP00000381793:D558G;ENSP00000406716:D552G;ENSP00000338543:D500G;ENSP00000381790:D500G;ENSP00000385189:D500G;ENSP00000385544:D552G;ENSP00000385366:D500G;ENSP00000349818:D512G;ENSP00000385046:D500G;ENSP00000385770:D558G;ENSP00000385748:D500G	ENSP00000338543:D500G	D	-	2	0	GRB10	50628255	1.000000	0.71417	0.995000	0.50966	0.883000	0.51084	8.040000	0.89188	2.242000	0.73789	0.533000	0.62120	GAT		0.547	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1		
PCLO	27445	broad.mit.edu	37	7	82544904	82544904	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:82544904C>T	ENST00000333891.9	-	7	12735	c.12398G>A	c.(12397-12399)cGt>cAt	p.R4133H	PCLO_ENST00000423517.2_Missense_Mutation_p.R4133H|PCLO_ENST00000437081.1_Missense_Mutation_p.R853H	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTCCCTCTACGAAATTCCTG	0.408																																						uc003uhx.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(12397-12399)cGt>cAt		Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.							100.0	95.0	96.0					7																	82544904		1883	4112	5995	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82544904C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.12398G>A	7.37:g.82544904C>T	ENSP00000334319:p.Arg4133His					PCLO_uc003uhv.2_Missense_Mutation_p.R4133H|PCLO_uc010lec.3_Missense_Mutation_p.R1098H	p.R4133H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			6	12687	-			4064						Missense_Mutation	SNP	ENST00000333891.9	37	c.12398G>A	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.239042	0.39598	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.18657	2.2;2.2	5.57	5.57	0.84162	.	.	.	.	.	T	0.41050	0.1142	L	0.40543	1.245	0.58432	D	0.999993	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79108	0.959;0.992;0.992	T	0.17837	-1.0356	9	0.87932	D	0	.	19.5537	0.95331	0.0:1.0:0.0:0.0	.	4064;4133;4133	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	H	4133;4133;853	ENSP00000334319:R4133H;ENSP00000388393:R4133H	ENSP00000334319:R4133H	R	-	2	0	PCLO	82382840	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.089000	0.71384	2.614000	0.88457	0.557000	0.71058	CGT		0.408	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
ABCB4	5244	broad.mit.edu	37	7	87083895	87083895	+	Silent	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:87083895C>T	ENST00000265723.4	-	5	411	c.300G>A	c.(298-300)ttG>ttA	p.L100L	ABCB4_ENST00000358400.3_Silent_p.L100L|ABCB4_ENST00000359206.3_Silent_p.L100L|ABCB4_ENST00000545634.1_Silent_p.L100L|ABCB4_ENST00000453593.1_Silent_p.L100L	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	100	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTAGCAGCGACAAGGAAAAGT	0.259																																						uc003uiv.1																			0				breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(298-300)ttG>ttA		Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.							38.0	41.0	40.0					7																	87083895		2202	4294	6496	SO:0001819	synonymous_variant	5244				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	g.chr7:87083895C>T	M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.300G>A	7.37:g.87083895C>T						ABCB4_uc003uiw.1_Silent_p.L100L|ABCB4_uc003uix.1_Silent_p.L100L|ABCB4_uc003uiy.3_Silent_p.L100L	p.L100L	NM_018849	NP_061337	P21439	MDR3_HUMAN			4	376	-	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)		100			ABC transmembrane type-1 1.		A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Silent	SNP	ENST00000265723.4	37	c.300G>A	CCDS5606.1																																																																																				0.259	ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
RELN	5649	broad.mit.edu	37	7	103137114	103137114	+	Nonsense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:103137114G>A	ENST00000428762.1	-	56	9211	c.9052C>T	c.(9052-9054)Cga>Tga	p.R3018*	RELN_ENST00000424685.2_Nonsense_Mutation_p.R3018*|RELN_ENST00000343529.5_Nonsense_Mutation_p.R3018*|CTB-107G13.1_ENST00000422488.1_RNA	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3018					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCGAAGTCGAGTTGTGTTG	0.478																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(9052-9054)Cga>Tga		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							120.0	102.0	108.0					7																	103137114		2203	4300	6503	SO:0001587	stop_gained	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103137114G>A		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.9052C>T	7.37:g.103137114G>A	ENSP00000392423:p.Arg3018*					RELN_uc022ajq.1_Nonsense_Mutation_p.R3018*|RELN_uc010liz.3_Nonsense_Mutation_p.R3018*	p.R3018*	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	55	9212	-			3018					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Nonsense_Mutation	SNP	ENST00000428762.1	37	c.9052C>T	CCDS47680.1	.	.	.	.	.	.	.	.	.	.	G	51	18.513130	0.99906	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	.	.	.	5.94	3.04	0.35103	.	0.123452	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8538	0.52425	0.0:0.1196:0.6317:0.2487	.	.	.	.	X	3018;3018;3018;535;3018	.	ENSP00000345694:R3018X	R	-	1	2	RELN	102924350	1.000000	0.71417	0.979000	0.43373	0.991000	0.79684	5.285000	0.65633	0.352000	0.24053	0.650000	0.86243	CGA		0.478	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
WDR86	349136	broad.mit.edu	37	7	151093239	151093239	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:151093239G>A	ENST00000334493.6	-	3	779	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	WDR86_ENST00000469830.2_Missense_Mutation_p.R117W|WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000463000.1_5'Flank	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	117										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGCTGTCCGGTCATAGGAG	0.627																																						uc011kvk.1																			0				breast(1)|endometrium(2)|kidney(1)|lung(6)	10						c.(349-351)Cgg>Tgg		Homo sapiens WD repeat domain 86 (WDR86), mRNA.							34.0	38.0	37.0					7																	151093239		2128	4249	6377	SO:0001583	missense	349136							g.chr7:151093239G>A	AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.349C>T	7.37:g.151093239G>A	ENSP00000335522:p.Arg117Trp					WDR86_uc003wka.2_Missense_Mutation_p.R75W|WDR86_uc003wkb.2_Missense_Mutation_p.R117W|WDR86_uc003wkc.2_5'UTR	p.R117W			Q86TI4	WDR86_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	2	798	-			117					B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Missense_Mutation	SNP	ENST00000334493.6	37	c.349C>T	CCDS5925.2	.	.	.	.	.	.	.	.	.	.	G	16.74	3.207560	0.58343	.	.	ENSG00000187260	ENST00000334493;ENST00000469830	T;T	0.61742	0.08;0.08	4.86	4.86	0.63082	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	.	.	.	.	T	0.72301	0.3443	M	0.71036	2.16	0.36756	D	0.883026	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.997;0.999	T	0.77376	-0.2611	8	.	.	.	-27.1387	11.0175	0.47698	0.0:0.0:0.6997:0.3003	.	117;117;75	B4DJF1;Q86TI4;D3DX12	.;WDR86_HUMAN;.	W	117	ENSP00000335522:R117W;ENSP00000419162:R117W	.	R	-	1	2	WDR86	150724172	1.000000	0.71417	0.999000	0.59377	0.598000	0.36846	3.345000	0.52182	2.254000	0.74563	0.313000	0.20887	CGG		0.627	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319999.3	NM_198285	
RIMS2	9699	broad.mit.edu	37	8	104709403	104709403	+	Missense_Mutation	SNP	C	C	T	rs372575949		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr8:104709403C>T	ENST00000406091.3	+	2	266	c.266C>T	c.(265-267)gCg>gTg	p.A89V		NM_001100117.2	NP_001093587.1	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	120	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAGGGTGATGCGCCAACCTGT	0.438										HNSCC(12;0.0054)																												uc003ylp.3																			0				NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144						c.(265-267)gCg>gTg		Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.							150.0	151.0	151.0					8																	104709403		1993	4157	6150	SO:0001583	missense	9699				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	g.chr8:104709403C>T	AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000406091.3:c.266C>T	8.37:g.104709403C>T	ENSP00000384892:p.Ala89Val	HNSCC(12;0.0054)					p.A89V	NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)		1	405	+			120			RabBD.		B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Missense_Mutation	SNP	ENST00000406091.3	37	c.266C>T	CCDS55269.1	.	.	.	.	.	.	.	.	.	.	C	34	5.405839	0.96051	.	.	ENSG00000176406	ENST00000504942;ENST00000329869;ENST00000406091;ENST00000402998	T;T	0.38401	1.14;1.14	5.72	5.72	0.89469	.	.	.	.	.	T	0.58878	0.2153	M	0.64260	1.97	0.80722	D	1	D	0.89917	1.0	D	0.66716	0.946	T	0.55438	-0.8141	9	0.48119	T	0.1	.	19.9379	0.97147	0.0:1.0:0.0:0.0	.	89	F8WD47	.	V	89;120;89;120	ENSP00000427018:A89V;ENSP00000384892:A89V	ENSP00000332184:A120V	A	+	2	0	RIMS2	104778579	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.815000	0.86186	2.710000	0.92621	0.556000	0.70494	GCG		0.438	RIMS2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001100117	
PRSS3	5646	broad.mit.edu	37	9	33798043	33798043	+	Silent	SNP	C	C	T			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:33798043C>T	ENST00000361005.5	+	3	588	c.588C>T	c.(586-588)tgC>tgT	p.C196C	PRSS3_ENST00000379405.3_Silent_p.C139C|PRSS3_ENST00000429677.3_Silent_p.C132C|PRSS3_ENST00000342836.4_Silent_p.C153C|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	196	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|endothelial cell migration (GO:0043542)|innate immune response (GO:0045087)|proteolysis (GO:0006508)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCACTGAGTGCCTCATCTCCG	0.567																																						uc003ztj.4																			0				large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13						c.(586-588)tgC>tgT		Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA.							158.0	125.0	136.0					9																	33798043		2203	4300	6503	SO:0001819	synonymous_variant	5646				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity	g.chr9:33798043C>T		CCDS6545.1, CCDS47958.1, CCDS56570.1, CCDS56571.1	9p13	2010-05-07	2008-03-11		ENSG00000010438	ENSG00000010438	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9486	protein-coding gene	gene with protein product	"""mesotrypsin"""	613578	"""protease, serine, 4 (trypsin 4, brain)"", ""protease, serine, 3 (mesotrypsin)"""	PRSS4		2326201, 8294000	Standard	NM_002771		Approved	TRY3, TRY4	uc003ztj.4	P35030	OTTHUMG00000019798	ENST00000361005.5:c.588C>T	9.37:g.33798043C>T						PRSS3_uc003zti.4_Silent_p.C153C|PRSS3_uc022bfu.1_Silent_p.C132C|PRSS3_uc003ztl.4_Silent_p.C139C	p.C196C	NM_007343	NP_031369	P35030	TRY3_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0176)		2	639	+			196			Peptidase S1.		A8CED1|A8CED3|A9Z1Y4|E7ES07|F8W7P3|P15951|Q15665|Q5VXV0|Q6ISJ4|Q9UQV3	Silent	SNP	ENST00000361005.5	37	c.588C>T	CCDS47958.1																																																																																				0.567	PRSS3-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052121.1	NM_002771	
WNK2	65268	broad.mit.edu	37	9	96080166	96080166	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:96080166G>A	ENST00000297954.4	+	30	6751	c.6751G>A	c.(6751-6753)Gga>Aga	p.G2251R	WNK2_ENST00000356055.3_Intron|WNK2_ENST00000427277.2_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000395475.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	2251					intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGCGCCCTCGGAACCGCCCG	0.687																																						uc004ati.1																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(6751-6753)Gga>Aga		Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.							13.0	14.0	14.0					9																	96080166		874	1991	2865	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96080166G>A	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.6751G>A	9.37:g.96080166G>A	ENSP00000297954:p.Gly2251Arg					WNK2_uc011lud.1_Intron|WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR	p.G2251R	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN			29	6751	+			2251					Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.6751G>A		.	.	.	.	.	.	.	.	.	.	G	12.83	2.056342	0.36277	.	.	ENSG00000165238	ENST00000297954	T	0.71934	-0.61	3.21	-0.372	0.12520	.	2.144840	0.03427	U	0.207158	T	0.57460	0.2055	.	.	.	0.09310	N	0.999998	B	0.06786	0.001	B	0.01281	0.0	T	0.42632	-0.9440	9	0.52906	T	0.07	.	4.2368	0.10630	0.0:0.2001:0.1861:0.6138	.	2251	Q9Y3S1	WNK2_HUMAN	R	2251	ENSP00000297954:G2251R	ENSP00000297954:G2251R	G	+	1	0	WNK2	95119987	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-1.108000	0.03313	-0.086000	0.12550	-0.467000	0.05162	GGA		0.687	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648	
SLC46A2	57864	broad.mit.edu	37	9	115652489	115652489	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:115652489G>A	ENST00000374228.4	-	1	704	c.473C>T	c.(472-474)gCg>gTg	p.A158V		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	158					negative regulation of T cell apoptotic process (GO:0070233)|regulation of T cell differentiation (GO:0045580)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGATCCCAGCGCCATGACCCC	0.682																																						uc004bgk.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						c.(472-474)gCg>gTg		Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.							16.0	22.0	20.0					9																	115652489		2196	4293	6489	SO:0001583	missense	57864					integral to membrane|plasma membrane	symporter activity	g.chr9:115652489G>A	AF242557	CCDS6786.1	9q32	2013-05-22	2007-03-29	2007-03-29	ENSG00000119457	ENSG00000119457		"""Solute carriers"""	16055	protein-coding gene	gene with protein product		608956	"""thymic stromal co-transporter"""	TSCOT		10978518, 12826694	Standard	NM_033051		Approved	Ly110	uc004bgk.3	Q9BY10	OTTHUMG00000020513	ENST00000374228.4:c.473C>T	9.37:g.115652489G>A	ENSP00000363345:p.Ala158Val						p.A158V	NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN			0	705	-			158					B1ALK1|Q86VT0|Q96NE2	Missense_Mutation	SNP	ENST00000374228.4	37	c.473C>T	CCDS6786.1	.	.	.	.	.	.	.	.	.	.	G	34	5.333248	0.95758	.	.	ENSG00000119457	ENST00000374228	T	0.63417	-0.04	5.44	5.44	0.79542	Major facilitator superfamily domain, general substrate transporter (1);	0.206907	0.51477	D	0.000097	T	0.74824	0.3767	M	0.61703	1.905	0.58432	D	0.999999	D	0.67145	0.996	P	0.58780	0.845	T	0.77216	-0.2669	10	0.72032	D	0.01	-25.7624	18.9316	0.92568	0.0:0.0:1.0:0.0	.	158	Q9BY10	TSCOT_HUMAN	V	158	ENSP00000363345:A158V	ENSP00000363345:A158V	A	-	2	0	SLC46A2	114692310	1.000000	0.71417	1.000000	0.80357	0.795000	0.44927	9.759000	0.98931	2.564000	0.86499	0.549000	0.68633	GCG		0.682	SLC46A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053702.1	NM_033051	
OR1N2	138882	broad.mit.edu	37	9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:125316158G>A	ENST00000373688.2	+	1	768	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	237			R -> C (in dbSNP:rs41316976).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517																																						uc011lyx.2																			0				breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						c.(709-711)cGc>cAc		Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.							252.0	239.0	243.0					9																	125316158		2203	4300	6503	SO:0001583	missense	138882				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125316158G>A		CCDS35123.1	9q33.2	2013-09-20			ENSG00000171501	ENSG00000171501		"""GPCR / Class A : Olfactory receptors"""	15111	protein-coding gene	gene with protein product							Standard	NM_001004457		Approved		uc011lyx.2	Q8NGR9	OTTHUMG00000020607	ENST00000373688.2:c.710G>A	9.37:g.125316158G>A	ENSP00000362792:p.Arg237His						p.R237H	NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN			0	710	+			237		R -> C (in dbSNP:rs41316976).			A3KFM2|B2RNY4|Q6IF17|Q96RA3	Missense_Mutation	SNP	ENST00000373688.2	37	c.710G>A	CCDS35123.1	.	.	.	.	.	.	.	.	.	.	G	1.404	-0.577288	0.03854	.	.	ENSG00000171501	ENST00000373688	T	0.00107	8.72	4.56	-0.82	0.10826	GPCR, rhodopsin-like superfamily (1);	0.976894	0.08366	N	0.956924	T	0.00109	0.0003	N	0.17594	0.5	0.09310	N	1	B	0.16396	0.017	B	0.20184	0.028	T	0.01225	-1.1413	10	0.28530	T	0.3	.	4.6663	0.12668	0.5603:0.0:0.2724:0.1672	.	237	Q8NGR9	OR1N2_HUMAN	H	237	ENSP00000362792:R237H	ENSP00000362792:R237H	R	+	2	0	OR1N2	124355979	0.000000	0.05858	0.004000	0.12327	0.987000	0.75469	-2.545000	0.00933	-0.028000	0.13850	0.644000	0.83932	CGC		0.517	OR1N2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053937.2		
COL5A1	1289	broad.mit.edu	37	9	137622156	137622156	+	Silent	SNP	C	C	T	rs138702819	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:137622156C>T	ENST00000371817.3	+	7	1413	c.999C>T	c.(997-999)gtC>gtT	p.V333V		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	333	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AAGAGGACGTCGGCATCGGGG	0.622													c|||	3	0.000599042	0.0015	0.0	5008	,	,		18319	0.0		0.0	False		,,,				2504	0.001					uc004cfe.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(997-999)gtC>gtT		Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.		T		4,4402	8.1+/-20.4	0,4,2199	132.0	125.0	127.0		999	-9.0	0.0	9	dbSNP_134	127	0,8600		0,0,4300	no	coding-synonymous	COL5A1	NM_000093.3		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		333/1839	137622156	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137622156C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.999C>T	9.37:g.137622156C>T							p.V333V	NM_000093	NP_000084	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	6	1381	+		Myeloproliferative disorder(178;0.0341)	333			Nonhelical region.		Q15094|Q5SUX4	Silent	SNP	ENST00000371817.3	37	c.999C>T	CCDS6982.1																																																																																				0.622	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093	
MXRA5	25878	broad.mit.edu	37	X	3229308	3229308	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:3229308G>A	ENST00000217939.6	-	7	7090	c.6936C>T	c.(6934-6936)aaC>aaT	p.N2312N		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2312	Ig-like C2-type 7.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCCCACTTCGTTAAAGTAGA	0.547																																						uc004crg.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(6934-6936)aaC>aaT		Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.							163.0	133.0	143.0					X																	3229308		2203	4300	6503	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3229308G>A	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6936C>T	X.37:g.3229308G>A							p.N2312N	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	7093	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2312			Ig-like C2-type 7.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6936C>T	CCDS14124.1																																																																																				0.547	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
TLR8	51311	broad.mit.edu	37	X	12939911	12939911	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:12939911G>A	ENST00000218032.6	+	2	2839	c.2752G>A	c.(2752-2754)Gag>Aag	p.E918K	TLR8_ENST00000311912.5_Missense_Mutation_p.E936K	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	918	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	CCTTTGTCTAGAGGAGAGGGA	0.443																																						uc004cvd.3																			0				breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						c.(2806-2808)Gag>Aag		Homo sapiens toll-like receptor 8 (TLR8), mRNA.							84.0	86.0	85.0					X																	12939911		2203	4300	6503	SO:0001583	missense	51311				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	g.chrX:12939911G>A	AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2752G>A	X.37:g.12939911G>A	ENSP00000218032:p.Glu918Lys					TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.E918K	p.E936K	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN			2	2976	+			918			TIR.		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	ENST00000218032.6	37	c.2806G>A	CCDS14152.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.483747	0.84854	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.02579	4.24;4.24	5.97	5.1	0.69264	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.176769	0.26708	N	0.022910	T	0.19446	0.0467	M	0.89658	3.05	0.58432	D	0.999997	D;D	0.64830	0.994;0.994	D;D	0.66351	0.943;0.943	T	0.03662	-1.1015	10	0.87932	D	0	.	16.2537	0.82501	0.0:0.1293:0.8707:0.0	.	918;936	Q9NR97;D1CS70	TLR8_HUMAN;.	K	918;936	ENSP00000218032:E918K;ENSP00000312082:E936K	ENSP00000218032:E918K	E	+	1	0	TLR8	12849832	1.000000	0.71417	0.954000	0.39281	0.836000	0.47400	5.689000	0.68234	1.265000	0.44215	0.600000	0.82982	GAG		0.443	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055784.2	NM_016610	
OTUD6A	139562	broad.mit.edu	37	X	69282717	69282717	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:69282717G>C	ENST00000338352.2	+	1	377	c.343G>C	c.(343-345)Gct>Cct	p.A115P		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU deubiquitinase 6A	115					protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)		ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CATCTTCCAGGCTGAGATGTC	0.617																																						uc004dxu.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						c.(343-345)Gct>Cct		Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.							24.0	21.0	22.0					X																	69282717		2184	4282	6466	SO:0001583	missense	139562							g.chrX:69282717G>C	AK098697	CCDS14395.1	Xq13.1	2014-02-24	2014-02-24			ENSG00000189401		"""OTU domain containing"""	32312	protein-coding gene	gene with protein product		300714	"""OTU domain containing 6A"""			23827681	Standard	NM_207320		Approved	FLJ25831, HSHIN6, DUBA2	uc004dxu.1	Q7L8S5		ENST00000338352.2:c.343G>C	X.37:g.69282717G>C	ENSP00000339389:p.Ala115Pro						p.A115P	NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN			0	377	+			115					B2RPB7	Missense_Mutation	SNP	ENST00000338352.2	37	c.343G>C	CCDS14395.1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.681028	0.47886	.	.	ENSG00000189401	ENST00000338352	T	0.52526	0.66	4.06	1.1	0.20463	.	0.546760	0.19288	N	0.117970	T	0.57021	0.2025	M	0.79123	2.44	0.09310	N	0.999996	D	0.63046	0.992	P	0.60682	0.878	T	0.46555	-0.9183	10	0.44086	T	0.13	.	3.2737	0.06891	0.1054:0.1697:0.5495:0.1754	.	115	Q7L8S5	OTU6A_HUMAN	P	115	ENSP00000339389:A115P	ENSP00000339389:A115P	A	+	1	0	OTUD6A	69199442	0.069000	0.21087	0.000000	0.03702	0.002000	0.02628	2.351000	0.44071	0.088000	0.17205	0.556000	0.70494	GCT		0.617	OTUD6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358763.1	NM_207320	
CXorf57	55086	broad.mit.edu	37	X	105855511	105855511	+	Silent	SNP	G	G	A			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:105855511G>A	ENST00000372548.4	+	1	310	c.201G>A	c.(199-201)gtG>gtA	p.V67V	CXorf57_ENST00000372544.2_Silent_p.V67V	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	67							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CGGAGGTGGTGCCTGTAACTG	0.572																																						uc004emi.4																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(199-201)gtG>gtA		Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.							93.0	83.0	86.0					X																	105855511		2203	4300	6503	SO:0001819	synonymous_variant	55086							g.chrX:105855511G>A	AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.201G>A	X.37:g.105855511G>A						CXorf57_uc004emj.4_Silent_p.V67V|CXorf57_uc004emh.2_Silent_p.V67V	p.V67V	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN			0	352	+			67					H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	ENST00000372548.4	37	c.201G>A	CCDS14519.1																																																																																				0.572	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015	
PCDH11Y	83259	broad.mit.edu	37	Y	4967730	4967730	+	Frame_Shift_Del	DEL	T	T	-			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrY:4967730delT	ENST00000333703.4	+	5	2591	c.2078delT	c.(2077-2079)gttfs	p.V693fs	PCDH11Y_ENST00000215473.6_Frame_Shift_Del_p.V704fs|PCDH11Y_ENST00000362095.5_Frame_Shift_Del_p.V704fs	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	704	Cadherin 6. {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)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AACAAACCAGTTTTCATTGTC	0.403																																						uc004fqo.3																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(2110-2112)gttfs		Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.																																				SO:0001589	frameshift_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4967730delT	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.2078delT	Y.37:g.4967730delT	ENSP00000330552:p.Val693fs					PCDH11Y_uc010nwg.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fql.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqm.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqn.1_Frame_Shift_Del_p.V704fs|PCDH11Y_uc004fqp.1_Frame_Shift_Del_p.V475fs	p.V704fs	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN			1	2845	+			704			Cadherin 6.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Frame_Shift_Del	DEL	ENST00000333703.4	37	c.2111delT	CCDS14776.1																																																																																				0.403	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973	
