#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
GNB1	2782	broad.mit.edu	37	1	1720641	1720641	+	Missense_Mutation	SNP	C	C	T	rs11554059		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:1720641C>T	ENST00000378609.4	-	10	1098	c.767G>A	c.(766-768)cGt>cAt	p.R256H		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	256					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CTGGTCAGCACGAAGGTCAAA	0.522											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001aif.2		NA																	0					0						c.(766-768)CGT>CAT		guanine nucleotide-binding protein, beta-1							94.0	86.0	89.0					1																	1720641		2203	4300	6503	SO:0001583	missense	2782				cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity	g.chr1:1720641C>T	BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.767G>A	1.37:g.1720641C>T	ENSP00000367872:p.Arg256His		OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	598	GNB1_uc009vky.2_Missense_Mutation_p.R156H	p.R256H	NM_002074	NP_002065	P62873	GBB1_HUMAN		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)	10	1099	-	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	256					B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	ENST00000378609.4	37	c.767G>A	CCDS34.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.65|19.65	3.867074|3.867074	0.72065|0.72065	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606|ENST00000424622	T|.	0.01527|.	4.8|.	5.36|5.36	4.44|4.44	0.53790|0.53790	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.096756|.	0.64402|.	D|.	0.000001|.	T|T	0.73442|0.73442	0.3587|0.3587	M|M	0.74467|0.74467	2.265|2.265	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.73708|.	0.981|.	T|T	0.74090|0.74090	-0.3777|-0.3777	10|5	0.87932|.	D|.	0|.	-21.8607|-21.8607	14.4631|14.4631	0.67465|0.67465	0.1483:0.8517:0.0:0.0|0.1483:0.8517:0.0:0.0	rs11554059;rs11554059|rs11554059;rs11554059	256|.	P62873|.	GBB1_HUMAN|.	H|M	256;156;256|114	ENSP00000367872:R256H|.	ENSP00000367869:R256H|.	R|V	-|-	2|1	0|0	GNB1|GNB1	1710501|1710501	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.630000|0.630000	0.37929|0.37929	7.644000|7.644000	0.83416|0.83416	1.234000|1.234000	0.43709|0.43709	-0.181000|-0.181000	0.13052|0.13052	CGT|GTG		0.522	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002762.3	NM_002074		12	30	0	0	0	0	12	30				
GRIK3	2899	broad.mit.edu	37	1	37271718	37271718	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:37271718G>A	ENST00000373091.3	-	14	2317	c.2301C>T	c.(2299-2301)atC>atT	p.I767I	GRIK3_ENST00000373093.4_Silent_p.I767I	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	767					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)				TGGGCGTGCCGATGCCGTAGC	0.662																																						uc001caz.2		NA																	0				ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(2299-2301)ATC>ATT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						130.0	90.0	104.0					1																	37271718		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:37271718G>A	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.2301C>T	1.37:g.37271718G>A						GRIK3_uc001cba.1_Silent_p.I767I	p.I767I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			14	2436	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	767			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.2301C>T	CCDS416.1																																																																																				0.662	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		13	53	0	0	0	0	13	53				
C1orf109	54955	broad.mit.edu	37	1	38152075	38152075	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:38152075C>T	ENST00000358011.4	-	3	514	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	C1orf109_ENST00000464085.1_Missense_Mutation_p.V109M|C1orf109_ENST00000609516.1_5'Flank	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109	109										lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				ATCTGAAACACTCGCTCCACA	0.498																																						uc001cbp.2		NA																	0					0						c.(325-327)GTG>ATG		hypothetical protein LOC54955							96.0	75.0	82.0					1																	38152075		2203	4300	6503	SO:0001583	missense	54955							g.chr1:38152075C>T	AK000515	CCDS423.1	1p34.3	2012-06-21			ENSG00000116922	ENSG00000116922			26039	protein-coding gene	gene with protein product		614799				22548824	Standard	XM_005270979		Approved	FLJ20508	uc001cbp.3	Q9NX04	OTTHUMG00000004323	ENST00000358011.4:c.325G>A	1.37:g.38152075C>T	ENSP00000350704:p.Val109Met					C1orf109_uc001cbn.2_5'Flank|C1orf109_uc010oig.1_Missense_Mutation_p.V172M|C1orf109_uc001cbo.2_Missense_Mutation_p.V171M|C1orf109_uc001cbq.1_Silent_p.E91E	p.V109M	NM_017850	NP_060320	Q9NX04	CA109_HUMAN			3	515	-		Myeloproliferative disorder(586;0.0393)	109					D3DPT1|Q8WVD1	Missense_Mutation	SNP	ENST00000358011.4	37	c.325G>A	CCDS423.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.105620	0.77096	.	.	ENSG00000116922	ENST00000358011	.	.	.	5.65	5.65	0.86999	.	0.166446	0.52532	D	0.000065	T	0.72763	0.3501	M	0.72894	2.215	0.35749	D	0.819309	D;D;D	0.89917	1.0;0.996;1.0	D;D;D	0.69479	0.964;0.912;0.964	T	0.80125	-0.1513	9	0.66056	D	0.02	-15.1875	12.5857	0.56416	0.0:0.9201:0.0:0.0799	.	172;109;171	B7Z9X8;Q9NX04;B4DRQ5	.;CA109_HUMAN;.	M	109	.	ENSP00000350704:V109M	V	-	1	0	C1orf109	37924662	0.995000	0.38212	0.811000	0.32455	0.729000	0.41735	3.408000	0.52651	2.667000	0.90743	0.655000	0.94253	GTG		0.498	C1orf109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012486.1	NM_017850		5	38	0	0	0	0	5	38				
GLIS1	148979	broad.mit.edu	37	1	54060170	54060170	+	Missense_Mutation	SNP	G	G	A	rs372634987		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:54060170G>A	ENST00000312233.2	-	3	972	c.406C>T	c.(406-408)Ctt>Ttt	p.L136F		NM_147193.2	NP_671726.2			GLIS family zinc finger 1											endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CAGGCTTCAAGTTGCAAGCTG	0.667																																						uc001cvr.1		NA																	0				skin(1)	1						c.(406-408)CTT>TTT		GLIS family zinc finger 1		G	PHE/LEU	1,4405		0,1,2202	24.0	28.0	27.0		406	1.1	0.1	1		27	0,8596		0,0,4298	no	missense	GLIS1	NM_147193.2	22	0,1,6500	AA,AG,GG		0.0,0.0227,0.0077	benign	136/621	54060170	1,13001	2203	4298	6501	SO:0001583	missense	148979				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:54060170G>A	AK093474	CCDS582.1	1p32.3	2008-02-05			ENSG00000174332	ENSG00000174332		"""Zinc fingers, C2H2-type"""	29525	protein-coding gene	gene with protein product		610378				12042312, 14500813	Standard	NM_147193		Approved	FLJ36155	uc001cvr.1	Q8NBF1	OTTHUMG00000008079	ENST00000312233.2:c.406C>T	1.37:g.54060170G>A	ENSP00000309653:p.Leu136Phe						p.L136F	NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN			3	973	-			136						Missense_Mutation	SNP	ENST00000312233.2	37	c.406C>T	CCDS582.1	.	.	.	.	.	.	.	.	.	.	G	10.76	1.439786	0.25900	2.27E-4	0.0	ENSG00000174332	ENST00000312233	T	0.11169	2.8	4.01	1.09	0.20402	.	0.413681	0.20433	N	0.092424	T	0.05960	0.0155	L	0.27053	0.805	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.32079	-0.9920	10	0.54805	T	0.06	.	1.1939	0.01871	0.2002:0.176:0.4426:0.1811	.	136	Q8NBF1	GLIS1_HUMAN	F	136	ENSP00000309653:L136F	ENSP00000309653:L136F	L	-	1	0	GLIS1	53832758	0.000000	0.05858	0.088000	0.20740	0.923000	0.55619	-0.013000	0.12678	0.261000	0.21753	0.462000	0.41574	CTT		0.667	GLIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022109.1	NM_147193		12	42	0	0	0	0	12	42				
CTTNBP2NL	55917	broad.mit.edu	37	1	112999913	112999913	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:112999913C>T	ENST00000271277.6	+	6	2024	c.1799C>T	c.(1798-1800)aCc>aTc	p.T600I	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	600					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTCCATTGACCAAAACTCAT	0.522																																						uc001ebx.2		NA																	0				central_nervous_system(2)|ovary(1)	3						c.(1798-1800)ACC>ATC		CTTNBP2 N-terminal like							95.0	92.0	93.0					1																	112999913		2203	4300	6503	SO:0001583	missense	55917					actin cytoskeleton	protein binding	g.chr1:112999913C>T	AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.1799C>T	1.37:g.112999913C>T	ENSP00000271277:p.Thr600Ile					CTTNBP2NL_uc001ebz.2_RNA	p.T600I	NM_018704	NP_061174	Q9P2B4	CT2NL_HUMAN		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	6	2027	+		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)	600					B3KMS5|Q96B40	Missense_Mutation	SNP	ENST00000271277.6	37	c.1799C>T	CCDS845.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.000946	0.35320	.	.	ENSG00000143079	ENST00000271277	T	0.21932	1.98	5.72	4.79	0.61399	.	0.206931	0.51477	D	0.000087	T	0.09158	0.0226	L	0.27053	0.805	0.47065	D	0.999308	P	0.49961	0.93	P	0.47299	0.543	T	0.06679	-1.0813	10	0.09590	T	0.72	-16.6015	16.1586	0.81681	0.0:0.866:0.1339:0.0	.	600	Q9P2B4	CT2NL_HUMAN	I	600	ENSP00000271277:T600I	ENSP00000271277:T600I	T	+	2	0	CTTNBP2NL	112801436	1.000000	0.71417	1.000000	0.80357	0.796000	0.44982	2.424000	0.44714	1.384000	0.46424	0.455000	0.32223	ACC		0.522	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030686.1	NM_018704		10	79	0	0	0	0	10	79				
AQP10	89872	broad.mit.edu	37	1	154295468	154295468	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:154295468G>A	ENST00000324978.3	+	3	283	c.243G>A	c.(241-243)ctG>ctA	p.L81L	ATP8B2_ENST00000368487.3_5'Flank|AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000484864.1_Silent_p.L81L	NM_080429.2	NP_536354.2	Q96PS8	AQP10_HUMAN	aquaporin 10	81					response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGCCCACCTGAATCCAGCCT	0.507																																						uc001feu.2		NA																	0				central_nervous_system(1)	1						c.(241-243)CTG>CTA		aquaporin 10							115.0	108.0	110.0					1																	154295468		2203	4300	6503	SO:0001819	synonymous_variant	89872				response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	g.chr1:154295468G>A	AF159174	CCDS1065.1	1q21.3	2008-02-05			ENSG00000143595	ENSG00000143595		"""Ion channels / Aquaporins"""	16029	protein-coding gene	gene with protein product		606578				11573934	Standard	NM_080429		Approved		uc001feu.3	Q96PS8	OTTHUMG00000035980	ENST00000324978.3:c.243G>A	1.37:g.154295468G>A						AQP10_uc001fev.2_Silent_p.L81L|ATP8B2_uc001few.2_5'Flank	p.L81L	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		3	283	+	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		81			Cytoplasmic (Potential).		Q5VYD3|Q5VYD4|Q8NG70	Silent	SNP	ENST00000324978.3	37	c.243G>A	CCDS1065.1																																																																																				0.507	AQP10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087661.1	NM_080429		25	74	0	0	0	0	25	74				
LAMC1	3915	broad.mit.edu	37	1	183085957	183085957	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:183085957T>A	ENST00000258341.4	+	8	1740	c.1483T>A	c.(1483-1485)Tgc>Agc	p.C495S		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	495	Laminin EGF-like 5; first part. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|endoderm development (GO:0007492)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|positive regulation of epithelial cell proliferation (GO:0050679)|protein complex assembly (GO:0006461)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76						TTGCACACCCTGCTTCTGCTT	0.388																																						uc001gpy.3		NA																	0				ovary(3)|large_intestine(1)|kidney(1)	5						c.(1483-1485)TGC>AGC		laminin, gamma 1 precursor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						120.0	115.0	116.0					1																	183085957		2203	4300	6503	SO:0001583	missense	3915				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	g.chr1:183085957T>A	J03202	CCDS1351.1	1q31	2013-03-01			ENSG00000135862	ENSG00000135862		"""Laminins"""	6492	protein-coding gene	gene with protein product		150290		LAMB2		3234037	Standard	NM_002293		Approved		uc001gpy.4	P11047	OTTHUMG00000035418	ENST00000258341.4:c.1483T>A	1.37:g.183085957T>A	ENSP00000258341:p.Cys495Ser						p.C495S	NM_002293	NP_002284	P11047	LAMC1_HUMAN			8	1740	+			495			Laminin EGF-like 5; first part.		Q5VYE7	Missense_Mutation	SNP	ENST00000258341.4	37	c.1483T>A	CCDS1351.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.805405	0.90623	.	.	ENSG00000135862	ENST00000258341	T	0.70164	-0.46	4.64	4.64	0.57946	EGF-like, laminin (1);	0.000000	0.85682	D	0.000000	D	0.87325	0.6149	H	0.97023	3.925	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91456	0.5185	10	0.87932	D	0	.	14.0631	0.64812	0.0:0.0:0.0:1.0	.	495	P11047	LAMC1_HUMAN	S	495	ENSP00000258341:C495S	ENSP00000258341:C495S	C	+	1	0	LAMC1	181352580	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.420000	0.80191	1.733000	0.51620	0.383000	0.25322	TGC		0.388	LAMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085954.2	NM_002293		18	73	0	0	0	0	18	73				
RGS21	431704	broad.mit.edu	37	1	192335209	192335209	+	Silent	SNP	T	T	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:192335209T>C	ENST00000417209.2	+	5	588	c.414T>C	c.(412-414)aaT>aaC	p.N138N		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	138					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						AACTGGTAAATAGCCAACAGG	0.333																																						uc001gsh.2		NA																	0				ovary(1)|skin(1)	2						c.(412-414)AAT>AAC		regulator of G-protein signaling 21							56.0	54.0	55.0					1																	192335209		1799	4066	5865	SO:0001819	synonymous_variant	431704				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	g.chr1:192335209T>C	AY643711	CCDS41448.1	1q31.2	2013-09-24	2007-08-14		ENSG00000253148	ENSG00000253148		"""Regulators of G-protein signaling"""	26839	protein-coding gene	gene with protein product		612407	"""regulator of G-protein signalling 21"""			15066150	Standard	NM_001039152		Approved		uc001gsh.3	Q2M5E4	OTTHUMG00000035594	ENST00000417209.2:c.414T>C	1.37:g.192335209T>C							p.N138N	NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN			5	588	+			138						Silent	SNP	ENST00000417209.2	37	c.414T>C	CCDS41448.1																																																																																				0.333	RGS21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086387.2			13	46	0	0	0	0	13	46				
RPS6KC1	26750	broad.mit.edu	37	1	213414331	213414331	+	Silent	SNP	A	A	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr1:213414331A>C	ENST00000366960.3	+	11	1662	c.1512A>C	c.(1510-1512)tcA>tcC	p.S504S	RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000366959.3_Silent_p.S492S|RPS6KC1_ENST00000543354.1_Silent_p.S207S|RPS6KC1_ENST00000543470.1_Silent_p.S292S	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	504					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		GTTCAAGTTCAGAAGAAGAAT	0.408																																						uc010ptr.1		NA																	0				lung(4)|ovary(3)|breast(1)	8						c.(1510-1512)TCA>TCC		ribosomal protein S6 kinase, 52kDa, polypeptide							58.0	58.0	58.0					1																	213414331		2203	4300	6503	SO:0001819	synonymous_variant	26750				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity	g.chr1:213414331A>C	AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1512A>C	1.37:g.213414331A>C						RPS6KC1_uc001hkd.2_Silent_p.S492S|RPS6KC1_uc010pts.1_Silent_p.S292S|RPS6KC1_uc010ptt.1_Silent_p.S292S|RPS6KC1_uc010ptu.1_Silent_p.S323S|RPS6KC1_uc010ptv.1_Silent_p.S39S|RPS6KC1_uc001hke.2_Silent_p.S323S	p.S504S	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)	11	1671	+			504					B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Silent	SNP	ENST00000366960.3	37	c.1512A>C	CCDS1513.1																																																																																				0.408	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424		15	35	0	0	0	0	15	35				
ITGB1	3688	broad.mit.edu	37	10	33211200	33211200	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr10:33211200G>C	ENST00000396033.2	-	9	1248	c.1113C>G	c.(1111-1113)atC>atG	p.I371M	ITGB1_ENST00000302278.3_Missense_Mutation_p.I371M|ITGB1_ENST00000423113.1_Missense_Mutation_p.I371M|ITGB1_ENST00000374956.4_Missense_Mutation_p.I371M	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	371	VWFA.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	ATGCATCAATGATCAACTGAA	0.328																																						uc001iws.3		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1111-1113)ATC>ATG		integrin beta 1 isoform 1A precursor							163.0	147.0	153.0					10																	33211200		2203	4300	6503	SO:0001583	missense	3688				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity	g.chr10:33211200G>C	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1113C>G	10.37:g.33211200G>C	ENSP00000379350:p.Ile371Met					ITGB1_uc001iwp.3_Missense_Mutation_p.I371M|ITGB1_uc001iwq.3_Missense_Mutation_p.I371M|ITGB1_uc001iwr.3_Missense_Mutation_p.I371M|ITGB1_uc001iwt.3_Missense_Mutation_p.I371M|ITGB1_uc001iwu.1_Missense_Mutation_p.I371M	p.I371M	NM_133376	NP_596867	P05556	ITB1_HUMAN			9	1249	-		Ovarian(717;1.34e-05)|Breast(68;0.0634)	371			Extracellular (Potential).|VWFA.		A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Missense_Mutation	SNP	ENST00000396033.2	37	c.1113C>G	CCDS7174.1	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138040	0.56936	.	.	ENSG00000150093	ENST00000396033;ENST00000423113;ENST00000302278;ENST00000374956	D;D;D;D	0.95342	-3.68;-3.68;-3.68;-3.68	5.84	3.92	0.45320	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.000000	0.85682	D	0.000000	D	0.97170	0.9075	M	0.89840	3.065	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.988;0.993;0.996;0.998;0.994	D	0.96468	0.9346	10	0.87932	D	0	.	8.7246	0.34460	0.298:0.0:0.702:0.0	.	371;371;371;371;371	P05556-2;P05556;P05556-5;P05556-3;P05556-4	.;ITB1_HUMAN;.;.;.	M	371	ENSP00000379350:I371M;ENSP00000388694:I371M;ENSP00000303351:I371M;ENSP00000364094:I371M	ENSP00000303351:I371M	I	-	3	3	ITGB1	33251206	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.596000	0.36718	0.752000	0.32923	0.655000	0.94253	ATC		0.328	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211		19	79	0	0	0	0	19	79				
ZNF33B	7582	broad.mit.edu	37	10	43090020	43090020	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr10:43090020A>T	ENST00000359467.3	-	5	492	c.378T>A	c.(376-378)ttT>ttA	p.F126L	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	126					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)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CGTCCATGTTAAATGGTATTC	0.348																																					Melanoma(137;1247 1767 16772 25727 43810)	uc001jaf.1		NA																	0					0						c.(376-378)TTT>TTA		zinc finger protein 33B							93.0	91.0	92.0					10																	43090020		2203	4300	6503	SO:0001583	missense	7582					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:43090020A>T	X68688, AJ491697	CCDS7198.1	10q11.2	2013-01-08	2005-03-18		ENSG00000196693	ENSG00000196693		"""Zinc fingers, C2H2-type"", ""-"""	13097	protein-coding gene	gene with protein product		194522	"""zinc finger protein 33b (KOX 31)"", ""zinc finger protein 11B"""	ZNF11B		2014798	Standard	NM_006955		Approved	KOX31, KOX2	uc001jaf.1	Q06732	OTTHUMG00000018014	ENST00000359467.3:c.378T>A	10.37:g.43090020A>T	ENSP00000352444:p.Phe126Leu					ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.F14L|ZNF33B_uc001jad.2_Intron	p.F126L	NM_006955	NP_008886	Q06732	ZN33B_HUMAN			5	493	-			126					Q06731|Q32MA2|Q86XY8|Q8NDW3	Missense_Mutation	SNP	ENST00000359467.3	37	c.378T>A	CCDS7198.1	.	.	.	.	.	.	.	.	.	.	A	2.339	-0.351664	0.05173	.	.	ENSG00000196693	ENST00000359467;ENST00000395836	T	0.05382	3.45	2.14	2.14	0.27477	.	0.715895	0.11562	N	0.551649	T	0.04998	0.0134	L	0.41710	1.295	0.19300	N	0.99997	B	0.06786	0.001	B	0.04013	0.001	T	0.44982	-0.9292	10	0.09843	T	0.71	.	6.321	0.21217	1.0:0.0:0.0:0.0	.	126	Q06732	ZN33B_HUMAN	L	126;92	ENSP00000352444:F126L	ENSP00000352444:F126L	F	-	3	2	ZNF33B	42410026	0.000000	0.05858	0.020000	0.16555	0.061000	0.15899	-0.162000	0.10012	1.250000	0.43966	0.341000	0.21757	TTT		0.348	ZNF33B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_006955		11	66	0	0	0	0	11	66				
PHYHIPL	84457	broad.mit.edu	37	10	61005100	61005100	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr10:61005100G>T	ENST00000373880.4	+	5	1144	c.880G>T	c.(880-882)Gaa>Taa	p.E294*	PHYHIPL_ENST00000373878.3_Nonsense_Mutation_p.E268*	NM_032439.3	NP_115815.2	Q96FC7	PHIPL_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein-like	294						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(3)|skin(1)|urinary_tract(1)	18						ACCAGGAGATGAATTTTGTAA	0.403																																						uc001jkk.3		NA																	0					0						c.(880-882)GAA>TAA		phytanoyl-CoA 2-hydroxylase interacting							82.0	79.0	80.0					10																	61005100		2203	4300	6503	SO:0001587	stop_gained	84457							g.chr10:61005100G>T	AL834339	CCDS7254.1, CCDS44405.1	10q21.1	2013-02-11	2006-01-09		ENSG00000165443	ENSG00000165443		"""Fibronectin type III domain containing"""	29378	protein-coding gene	gene with protein product			"""phytanoyl-CoA hydroxylase interacting protein-like"""			11347906	Standard	NM_032439		Approved	KIAA1796, Em:AC025038.1	uc001jkk.4	Q96FC7	OTTHUMG00000018276	ENST00000373880.4:c.880G>T	10.37:g.61005100G>T	ENSP00000362987:p.Glu294*					PHYHIPL_uc001jkl.3_Nonsense_Mutation_p.E248*|PHYHIPL_uc001jkm.3_Nonsense_Mutation_p.E268*	p.E294*	NM_032439	NP_115815	Q96FC7	PHIPL_HUMAN			5	1146	+			294					B7WP61|Q68DF3|Q6UXY3|Q8N3W3|Q96JM9|Q96NP7	Nonsense_Mutation	SNP	ENST00000373880.4	37	c.880G>T	CCDS7254.1	.	.	.	.	.	.	.	.	.	.	G	37	6.200451	0.97371	.	.	ENSG00000165443	ENST00000373880;ENST00000373878	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-32.4614	20.1162	0.97934	0.0:0.0:1.0:0.0	.	.	.	.	X	294;268	.	ENSP00000362985:E268X	E	+	1	0	PHYHIPL	60675106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.876000	0.87215	2.756000	0.94617	0.655000	0.94253	GAA		0.403	PHYHIPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048156.1	NM_032439		19	55	1	0	9.96e-16	5.46e-15	19	55				
INPP5F	22876	broad.mit.edu	37	10	121582640	121582640	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr10:121582640G>C	ENST00000361976.2	+	18	2256	c.2090G>C	c.(2089-2091)aGa>aCa	p.R697T	INPP5F_ENST00000369080.3_Missense_Mutation_p.R87T|INPP5F_ENST00000490818.1_3'UTR	NM_014937.3	NP_055752.1	Q01968	OCRL_HUMAN	inositol polyphosphate-5-phosphatase F	190					cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		CTGCACTACAGATACAAAGAA	0.403																																						uc001leo.2		NA																	0				ovary(2)	2						c.(2089-2091)AGA>ACA		inositol polyphosphate-5-phosphatase F							116.0	111.0	113.0					10																	121582640		2203	4300	6503	SO:0001583	missense	22876						phosphoric ester hydrolase activity	g.chr10:121582640G>C	AB023183	CCDS7616.1, CCDS58098.1	10q26.13	2009-02-03			ENSG00000198825	ENSG00000198825			17054	protein-coding gene	gene with protein product		609389				10231032, 11274189	Standard	NM_014937		Approved	SAC2, KIAA0966, hSac2	uc001leo.3	Q9Y2H2	OTTHUMG00000019158	ENST00000361976.2:c.2090G>C	10.37:g.121582640G>C	ENSP00000354519:p.Arg697Thr					INPP5F_uc001lep.2_Missense_Mutation_p.R87T	p.R697T	NM_014937	NP_055752	Q9Y2H2	SAC2_HUMAN		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)	18	2256	+		Lung NSC(174;0.109)|all_lung(145;0.142)	697					A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000361976.2	37	c.2090G>C	CCDS7616.1	.	.	.	.	.	.	.	.	.	.	G	10.61	1.397180	0.25205	.	.	ENSG00000198825	ENST00000361976;ENST00000369080	T;T	0.42513	1.21;0.97	6.16	1.06	0.20224	.	0.251446	0.45867	N	0.000324	T	0.16642	0.0400	N	0.08118	0	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.09377	0.004;0.002	T	0.06463	-1.0825	10	0.16420	T	0.52	-12.3703	4.353	0.11165	0.461:0.1693:0.3697:0.0	.	87;697	Q5W135;Q9Y2H2	.;SAC2_HUMAN	T	697;87	ENSP00000354519:R697T;ENSP00000358076:R87T	ENSP00000354519:R697T	R	+	2	0	INPP5F	121572630	0.655000	0.27376	0.200000	0.23457	0.988000	0.76386	1.039000	0.30266	0.172000	0.19760	0.650000	0.86243	AGA		0.403	INPP5F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050679.1	NM_014937		3	58	0	0	0	0	3	58				
OR51I2	390064	broad.mit.edu	37	11	5475541	5475541	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:5475541C>A	ENST00000341449.2	+	1	904	c.823C>A	c.(823-825)Ctc>Atc	p.L275I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	275					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATACATGTCCTCATGTCAAA	0.473																																						uc010qzf.1		NA																	0				ovary(2)|skin(2)	4						c.(823-825)CTC>ATC		olfactory receptor, family 51, subfamily I,							212.0	183.0	193.0					11																	5475541		2201	4297	6498	SO:0001583	missense	390064				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5475541C>A	BK004381	CCDS31383.1	11p15.4	2012-08-09			ENSG00000187918	ENSG00000187918		"""GPCR / Class A : Olfactory receptors"""	15201	protein-coding gene	gene with protein product							Standard	NM_001004754		Approved		uc010qzf.2	Q9H344	OTTHUMG00000066902	ENST00000341449.2:c.823C>A	11.37:g.5475541C>A	ENSP00000341987:p.Leu275Ile					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	p.L275I	NM_001004754	NP_001004754	Q9H344	O51I2_HUMAN		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	823	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	275			Helical; Name=7; (Potential).		Q6IF81	Missense_Mutation	SNP	ENST00000341449.2	37	c.823C>A	CCDS31383.1	.	.	.	.	.	.	.	.	.	.	C	4.354	0.065192	0.08388	.	.	ENSG00000187918	ENST00000341449	T	0.00099	8.73	5.45	1.25	0.21368	GPCR, rhodopsin-like superfamily (1);	0.282911	0.24601	N	0.037136	T	0.00178	0.0005	L	0.57536	1.79	0.22896	N	0.998595	P	0.34955	0.477	B	0.41946	0.371	T	0.24835	-1.0149	10	0.46703	T	0.11	.	2.0957	0.03667	0.387:0.3418:0.1255:0.1457	.	275	Q9H344	O51I2_HUMAN	I	275	ENSP00000341987:L275I	ENSP00000341987:L275I	L	+	1	0	OR51I2	5432117	0.000000	0.05858	0.994000	0.49952	0.005000	0.04900	-1.465000	0.02357	0.405000	0.25532	-0.309000	0.09137	CTC		0.473	OR51I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143385.1	NM_001004754		47	158	1	0	1.24e-20	6.83e-20	47	158				
SLC1A2	6506	broad.mit.edu	37	11	35308365	35308365	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:35308365C>T	ENST00000278379.3	-	8	1507	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	SLC1A2_ENST00000479543.1_5'Flank|SLC1A2_ENST00000606205.1_Missense_Mutation_p.A409T|RP1-68D18.3_ENST00000532760.1_RNA|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A400T|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A400T	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	409					adult behavior (GO:0030534)|cellular response to extracellular stimulus (GO:0031668)|D-aspartate import (GO:0070779)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|multicellular organism growth (GO:0035264)|multicellular organismal aging (GO:0010259)|positive regulation of glucose import (GO:0046326)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to wounding (GO:0009611)|synaptic transmission (GO:0007268)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|visual behavior (GO:0007632)	axolemma (GO:0030673)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glutamate:sodium symporter activity (GO:0015501)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)			ATAAAGATGGCGGCTACCGCT	0.468																																					NSCLC(100;1273 1575 12993 16869 47409)|Ovarian(164;45 1946 8965 30452 48454)	uc001mwd.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1225-1227)GCC>ACC		excitatory amino acid transporter 2	L-Glutamic Acid(DB00142)						184.0	166.0	172.0					11																	35308365		2202	4298	6500	SO:0001583	missense	6506				D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr11:35308365C>T	AB209444	CCDS31459.1, CCDS55756.1	11p13-p12	2013-05-22			ENSG00000110436	ENSG00000110436		"""Solute carriers"""	10940	protein-coding gene	gene with protein product		600300				1448170	Standard	NM_004171		Approved	GLT-1, EAAT2	uc001mwd.3	P43004	OTTHUMG00000044391	ENST00000278379.3:c.1225G>A	11.37:g.35308365C>T	ENSP00000278379:p.Ala409Thr					SLC1A2_uc001mwe.2_Missense_Mutation_p.A400T|SLC1A2_uc010rev.1_Missense_Mutation_p.A409T	p.A409T	NM_004171	NP_004162	P43004	EAA2_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		8	1817	-	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	409			Helical; (Potential).		B4DQE9|Q14417|Q541G6|U3KQQ4	Missense_Mutation	SNP	ENST00000278379.3	37	c.1225G>A	CCDS31459.1	.	.	.	.	.	.	.	.	.	.	C	36	5.662975	0.96745	.	.	ENSG00000110436	ENST00000278379;ENST00000395750;ENST00000395753	T;T;T	0.61980	0.06;0.06;0.06	5.62	5.62	0.85841	Sodium:dicarboxylate symporter, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.76644	0.4016	L	0.54323	1.7	0.80722	D	1	D;D	0.89917	1.0;0.976	D;P	0.70487	0.969;0.6	T	0.76293	-0.3012	10	0.59425	D	0.04	-24.0555	20.024	0.97514	0.0:1.0:0.0:0.0	.	409;409	B4DQE9;P43004	.;EAA2_HUMAN	T	409;400;400	ENSP00000278379:A409T;ENSP00000379099:A400T;ENSP00000379102:A400T	ENSP00000278379:A409T	A	-	1	0	SLC1A2	35264941	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.776000	0.85560	2.813000	0.96785	0.561000	0.74099	GCC		0.468	SLC1A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000258181.1	NM_004171		17	141	0	0	0	0	17	141				
OR5D18	219438	broad.mit.edu	37	11	55587492	55587492	+	Silent	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:55587492C>T	ENST00000333976.4	+	1	407	c.387C>T	c.(385-387)aaC>aaT	p.N129N		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	129						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCATTTGCAACCCTCTGCTCT	0.478																																						uc010rin.1		NA																	0				skin(2)|ovary(1)	3						c.(385-387)AAC>AAT		olfactory receptor, family 5, subfamily D,							182.0	170.0	174.0					11																	55587492		2200	4296	6496	SO:0001819	synonymous_variant	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587492C>T	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.387C>T	11.37:g.55587492C>T							p.N129N	NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN			1	387	+		all_epithelial(135;0.208)	129			Cytoplasmic (Potential).		Q6IF67|Q6IFD3|Q96RB3	Silent	SNP	ENST00000333976.4	37	c.387C>T	CCDS31510.1																																																																																				0.478	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		44	159	0	0	0	0	44	159				
OR4D6	219983	broad.mit.edu	37	11	59225310	59225310	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:59225310G>A	ENST00000300127.2	+	1	900	c.877G>A	c.(877-879)Gag>Aag	p.E293K		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	293						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(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GAGAAATCAAGAGATGAAGTC	0.522																																						uc010rku.1		NA																	0				ovary(1)	1						c.(877-879)GAG>AAG		olfactory receptor, family 4, subfamily D,							100.0	102.0	101.0					11																	59225310		2201	4295	6496	SO:0001583	missense	219983				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59225310G>A	AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.877G>A	11.37:g.59225310G>A	ENSP00000300127:p.Glu293Lys						p.E293K	NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN			1	877	+			293			Cytoplasmic (Potential).		B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	ENST00000300127.2	37	c.877G>A	CCDS31562.1	.	.	.	.	.	.	.	.	.	.	G	15.27	2.783096	0.49891	.	.	ENSG00000166884	ENST00000300127	T	0.38077	1.16	6.01	4.16	0.48862	.	0.000000	0.53938	D	0.000053	T	0.42944	0.1225	L	0.49571	1.57	0.39314	D	0.965138	P	0.41524	0.753	P	0.48770	0.589	T	0.43343	-0.9397	10	0.87932	D	0	-15.8432	11.7702	0.51953	0.1431:0.0:0.8569:0.0	.	293	Q8NGJ1	OR4D6_HUMAN	K	293	ENSP00000300127:E293K	ENSP00000300127:E293K	E	+	1	0	OR4D6	58981886	1.000000	0.71417	0.684000	0.30055	0.128000	0.20619	6.016000	0.70798	0.882000	0.36016	-0.140000	0.14226	GAG		0.522	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394234.1	NM_001004708		44	117	0	0	0	0	44	117				
ARHGEF12	23365	broad.mit.edu	37	11	120291479	120291479	+	Missense_Mutation	SNP	G	G	A	rs34754222		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr11:120291479G>A	ENST00000397843.2	+	5	383	c.217G>A	c.(217-219)Gta>Ata	p.V73I	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.V54I|ARHGEF12_ENST00000532993.1_5'UTR	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	73	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TCAGCGTTGCGTAATCATCCA	0.383			T	MLL	AML								G|||	1	0.000199681	0.0	0.0	5008	,	,		18648	0.0		0.0	False		,,,				2504	0.001					uc001pxl.1		NA		Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				lung(2)|breast(2)|skin(2)|ovary(1)	7						c.(217-219)GTA>ATA		Rho guanine nucleotide exchange factor (GEF) 12							97.0	90.0	93.0					11																	120291479		2005	4189	6194	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120291479G>A	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.217G>A	11.37:g.120291479G>A	ENSP00000380942:p.Val73Ile					ARHGEF12_uc009zat.2_Missense_Mutation_p.V54I|ARHGEF12_uc010rzn.1_5'UTR|ARHGEF12_uc009zau.1_5'UTR	p.V73I	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	5	224	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	73			PDZ.		O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.217G>A	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.031566	0.93575	.	.	ENSG00000196914	ENST00000397843;ENST00000356641	T;T	0.33216	1.42;1.42	5.66	5.66	0.87406	PDZ/DHR/GLGF (2);	0.000000	0.43260	D	0.000592	T	0.41604	0.1166	N	0.11818	0.18	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.995;0.997	T	0.49513	-0.8932	10	0.87932	D	0	-14.1433	20.0973	0.97856	0.0:0.0:1.0:0.0	rs34754222	54;73	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	I	73;54	ENSP00000380942:V73I;ENSP00000349056:V54I	ENSP00000349056:V54I	V	+	1	0	ARHGEF12	119796689	1.000000	0.71417	1.000000	0.80357	0.736000	0.42039	9.392000	0.97252	2.830000	0.97506	0.585000	0.79938	GTA		0.383	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		23	48	0	0	0	0	23	48				
ACRBP	84519	broad.mit.edu	37	12	6749669	6749669	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:6749669C>T	ENST00000229243.2	-	7	1190	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Missense_Mutation_p.R333Q	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CATGTGTCGCCGCCCAAGGCT	0.637																																						uc001qpu.1		NA																	0				central_nervous_system(1)	1						c.(1096-1098)CGG>CAG		proacrosin binding protein sp32 precursor							37.0	40.0	39.0					12																	6749669		2203	4300	6503	SO:0001583	missense	84519					acrosomal vesicle|extracellular region		g.chr12:6749669C>T	AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.1097G>A	12.37:g.6749669C>T	ENSP00000229243:p.Arg366Gln					LPAR5_uc010sff.1_5'Flank|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Missense_Mutation_p.R333Q	p.R366Q	NM_032489	NP_115878	Q8NEB7	ACRBP_HUMAN			7	1145	-			366						Missense_Mutation	SNP	ENST00000229243.2	37	c.1097G>A	CCDS8554.1	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683706	0.88639	.	.	ENSG00000111644	ENST00000229243;ENST00000414226	T;T	0.64260	-0.09;-0.06	5.22	5.22	0.72569	.	0.124098	0.36519	N	0.002553	T	0.79227	0.4410	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.991	T	0.81850	-0.0743	10	0.87932	D	0	-2.7698	16.5497	0.84470	0.0:1.0:0.0:0.0	.	333;366	E7EP66;Q8NEB7	.;ACRBP_HUMAN	Q	366;333	ENSP00000229243:R366Q;ENSP00000402725:R333Q	ENSP00000229243:R366Q	R	-	2	0	ACRBP	6619930	0.882000	0.30256	0.845000	0.33349	0.854000	0.48673	4.566000	0.60843	2.421000	0.82119	0.561000	0.74099	CGG		0.637	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400703.1	NM_032489		8	23	0	0	0	0	8	23				
CLEC12B	387837	broad.mit.edu	37	12	10167883	10167883	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:10167883C>T	ENST00000338896.5	+	4	570	c.442C>T	c.(442-444)Caa>Taa	p.Q148*	RP11-133L14.5_ENST00000544225.1_RNA|CLEC1B_ENST00000428126.2_5'Flank|CLEC12B_ENST00000396502.1_Nonsense_Mutation_p.Q148*	NM_001129998.1	NP_001123470.1	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	148						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TAAGATGTGGCAATGGTACCA	0.388																																						uc001qwz.2		NA																	0					0						c.(442-444)CAA>TAA		C-type lectin domain family 12, member B isoform							106.0	111.0	109.0					12																	10167883		2203	4300	6503	SO:0001587	stop_gained	387837					integral to membrane|plasma membrane	receptor activity|sugar binding	g.chr12:10167883C>T	AK128243	CCDS8610.1, CCDS44830.1	12p13.2	2010-08-17			ENSG00000256660	ENSG00000256660		"""C-type lectin domain containing"""	31966	protein-coding gene	gene with protein product						17562706	Standard	NM_205852		Approved		uc001qwz.2	Q2HXU8	OTTHUMG00000168397	ENST00000338896.5:c.442C>T	12.37:g.10167883C>T	ENSP00000344563:p.Gln148*					CLEC12B_uc001qwx.1_Nonsense_Mutation_p.Q148*|CLEC12B_uc001qwy.1_Nonsense_Mutation_p.Q45*|CLEC12B_uc009zhe.2_RNA	p.Q148*	NM_001129998	NP_001123470	Q2HXU8	CL12B_HUMAN			4	570	+			148			Extracellular (Potential).		Q6UWF2|Q6ZRG0	Nonsense_Mutation	SNP	ENST00000338896.5	37	c.442C>T	CCDS44830.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.107494	0.77096	.	.	ENSG00000256660	ENST00000396502;ENST00000338896	.	.	.	4.55	2.5	0.30297	.	1.320220	0.04886	N	0.448587	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	.	6.9018	0.24286	0.2014:0.6035:0.1951:0.0	.	.	.	.	X	148	.	ENSP00000344563:Q148X	Q	+	1	0	CLEC12B	10059150	0.971000	0.33674	0.985000	0.45067	0.966000	0.64601	1.082000	0.30803	1.217000	0.43442	0.491000	0.48974	CAA		0.388	CLEC12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399554.2	NM_205852		23	94	0	0	0	0	23	94				
PTPRO	5800	broad.mit.edu	37	12	15742441	15742441	+	Missense_Mutation	SNP	C	C	T	rs61757814		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:15742441C>T	ENST00000281171.4	+	25	3793	c.3463C>T	c.(3463-3465)Cac>Tac	p.H1155Y	PTPRO_ENST00000542557.1_Missense_Mutation_p.H316Y|PTPRO_ENST00000442921.2_Missense_Mutation_p.H344Y|PTPRO_ENST00000544244.1_Missense_Mutation_p.H316Y|PTPRO_ENST00000348962.2_Missense_Mutation_p.H1127Y|PTPRO_ENST00000445537.2_Missense_Mutation_p.H344Y	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	1155	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				GCTCTTGCAGCACATTCGGGA	0.463																																						uc001rcv.1		NA																	0				skin(5)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)	9						c.(3463-3465)CAC>TAC		receptor-type protein tyrosine phosphatase O							200.0	179.0	186.0					12																	15742441		2203	4300	6503	SO:0001583	missense	5800					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:15742441C>T	U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.3463C>T	12.37:g.15742441C>T	ENSP00000281171:p.His1155Tyr					PTPRO_uc001rcw.1_Missense_Mutation_p.H1127Y|PTPRO_uc001rcx.1_Missense_Mutation_p.H344Y|PTPRO_uc001rcy.1_Missense_Mutation_p.H344Y|PTPRO_uc001rcz.1_Missense_Mutation_p.H316Y|PTPRO_uc001rda.1_Missense_Mutation_p.H316Y	p.H1155Y	NM_030667	NP_109592	Q16827	PTPRO_HUMAN			25	3637	+		Hepatocellular(102;0.244)	1155			Cytoplasmic (Potential).|Tyrosine-protein phosphatase.		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	ENST00000281171.4	37	c.3463C>T	CCDS8675.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345772	0.82022	.	.	ENSG00000151490	ENST00000281171;ENST00000348962;ENST00000442921;ENST00000542557;ENST00000445537;ENST00000544244	T;T;T;T;T;T	0.11277	2.79;2.79;2.79;2.79;2.79;2.79	5.1	5.1	0.69264	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.52532	D	0.000076	T	0.30854	0.0778	L	0.53617	1.68	0.80722	D	1	D;D;D	0.89917	0.983;1.0;1.0	P;D;D	0.91635	0.889;0.998;0.999	T	0.01030	-1.1475	10	0.72032	D	0.01	.	18.701	0.91620	0.0:1.0:0.0:0.0	.	316;1127;1155	Q9UBT5;Q16827-2;Q16827	.;.;PTPRO_HUMAN	Y	1155;1127;344;316;344;316	ENSP00000281171:H1155Y;ENSP00000343434:H1127Y;ENSP00000404188:H344Y;ENSP00000437571:H316Y;ENSP00000393449:H344Y;ENSP00000439234:H316Y	ENSP00000281171:H1155Y	H	+	1	0	PTPRO	15633708	1.000000	0.71417	1.000000	0.80357	0.489000	0.33432	5.900000	0.69853	2.649000	0.89929	0.561000	0.74099	CAC		0.463	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401079.1			29	77	0	0	0	0	29	77				
ABCC9	10060	broad.mit.edu	37	12	21981956	21981956	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:21981956G>A	ENST00000261201.4	-	29	3604	c.3605C>T	c.(3604-3606)aCg>aTg	p.T1202M	ABCC9_ENST00000345162.2_Missense_Mutation_p.T1166M|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261200.4_Missense_Mutation_p.T1202M	NM_005691.2	NP_005682.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1202	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.				defense response to virus (GO:0051607)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	ATP-sensitive potassium channel complex (GO:0008282)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcomere (GO:0030017)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium channel activity (GO:0005267)|potassium channel regulator activity (GO:0015459)|sulfonylurea receptor activity (GO:0008281)|transporter activity (GO:0005215)	p.L1201fs*33(2)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glyburide(DB01016)	GTTTGTATCCGTCAGTTCCAG	0.413																																						uc001rfi.1		NA																	2	Deletion - Frameshift(2)		breast(2)	ovary(4)|skin(2)	6						c.(3604-3606)ACG>ATG		ATP-binding cassette, sub-family C, member 9	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)						217.0	190.0	199.0					12																	21981956		2203	4300	6503	SO:0001583	missense	10060				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	g.chr12:21981956G>A	AF061323	CCDS8693.1, CCDS8694.1	12p12.1	2014-09-17			ENSG00000069431	ENSG00000069431		"""ATP binding cassette transporters / subfamily C"""	60	protein-coding gene	gene with protein product	"""sulfonylurea receptor 2"""	601439				9457174, 15034580	Standard	NM_020297		Approved	SUR2, CMD1O	uc001rfh.3	O60706	OTTHUMG00000169094	ENST00000261201.4:c.3605C>T	12.37:g.21981956G>A	ENSP00000261201:p.Thr1202Met					ABCC9_uc001rfh.2_Missense_Mutation_p.T1202M|ABCC9_uc001rfj.1_Missense_Mutation_p.T1166M	p.T1202M	NM_005691	NP_005682	O60706	ABCC9_HUMAN			29	3625	-			1202			Extracellular (Potential).|ABC transmembrane type-1 2.		O60707	Missense_Mutation	SNP	ENST00000261201.4	37	c.3605C>T	CCDS8694.1	.	.	.	.	.	.	.	.	.	.	G	19.32	3.805666	0.70682	.	.	ENSG00000069431	ENST00000261200;ENST00000544039;ENST00000261201;ENST00000345162	D;D;D;D	0.89810	-2.57;-2.57;-2.57;-2.57	4.1	4.1	0.47936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.88768	0.6526	L	0.31420	0.93	0.58432	D	0.999999	D;P	0.61080	0.989;0.914	P;B	0.55713	0.782;0.295	D	0.89888	0.4035	10	0.52906	T	0.07	-5.2076	16.8607	0.86017	0.0:0.0:1.0:0.0	.	1202;1202	O60706;O60706-2	ABCC9_HUMAN;.	M	1202;829;1202;1166	ENSP00000261200:T1202M;ENSP00000440521:T829M;ENSP00000261201:T1202M;ENSP00000261202:T1166M	ENSP00000261200:T1202M	T	-	2	0	ABCC9	21873223	1.000000	0.71417	0.992000	0.48379	0.941000	0.58515	9.131000	0.94446	2.273000	0.75805	0.467000	0.42956	ACG		0.413	ABCC9-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000402230.1	NM_005691		19	95	0	0	0	0	19	95				
DENND5B	160518	broad.mit.edu	37	12	31552693	31552693	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:31552693C>T	ENST00000389082.5	-	16	3227	c.2963G>A	c.(2962-2964)gGg>gAg	p.G988E	DENND5B_ENST00000536562.1_Missense_Mutation_p.G1023E|DENND5B_ENST00000306833.6_Missense_Mutation_p.G1023E	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	988	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GGTCAGCTTCCCCAAGTTCTG	0.443																																						uc001rki.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(2962-2964)GGG>GAG		DENN/MADD domain containing 5B							102.0	95.0	97.0					12																	31552693		2072	4252	6324	SO:0001583	missense	160518					integral to membrane		g.chr12:31552693C>T	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2963G>A	12.37:g.31552693C>T	ENSP00000373734:p.Gly988Glu					DENND5B_uc001rkh.1_Missense_Mutation_p.G1023E|DENND5B_uc009zjq.1_Intron	p.G988E	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			16	3149	-			988			PLAT.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.2963G>A	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548709	0.86127	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.76316	-1.01;-1.01;-1.01	4.31	4.31	0.51392	Lipoxygenase, LH2 (3);Lipase/lipooxygenase, PLAT/LH2 (1);	0.000000	0.85682	D	0.000000	D	0.91841	0.7418	H	0.96142	3.775	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94601	0.7796	10	0.87932	D	0	-15.8582	17.3352	0.87278	0.0:1.0:0.0:0.0	.	988;1023	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	E	988;1023;1023	ENSP00000373734:G988E;ENSP00000306482:G1023E;ENSP00000444889:G1023E	ENSP00000306482:G1023E	G	-	2	0	DENND5B	31443960	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.393000	0.79851	2.377000	0.81083	0.591000	0.81541	GGG		0.443	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		5	33	0	0	0	0	5	33				
ESPL1	9700	broad.mit.edu	37	12	53671305	53671305	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:53671305G>A	ENST00000257934.4	+	10	2228	c.2137G>A	c.(2137-2139)Gaa>Aaa	p.E713K	ESPL1_ENST00000552462.1_Missense_Mutation_p.E713K	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	713					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGAGGAATTTGAAGTCAATGA	0.502																																					Colon(53;1069 1201 2587 5382)	uc001sck.2		NA																	0				lung(1)|kidney(1)|skin(1)	3						c.(2137-2139)GAA>AAA		separase							90.0	83.0	85.0					12																	53671305		2203	4300	6503	SO:0001583	missense	9700				apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding	g.chr12:53671305G>A	D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2137G>A	12.37:g.53671305G>A	ENSP00000257934:p.Glu713Lys					ESPL1_uc001scj.2_Missense_Mutation_p.E388K|ESPL1_uc010soe.1_5'Flank	p.E713K	NM_012291	NP_036423	Q14674	ESPL1_HUMAN			10	2228	+			713						Missense_Mutation	SNP	ENST00000257934.4	37	c.2137G>A	CCDS8852.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190274	0.58017	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.13778	2.56;2.56	5.18	4.28	0.50868	.	0.203301	0.51477	D	0.000083	T	0.33702	0.0872	M	0.72118	2.19	0.36476	D	0.867542	D	0.89917	1.0	D	0.66716	0.946	T	0.38499	-0.9658	10	0.33141	T	0.24	.	14.7459	0.69490	0.0:0.1459:0.8541:0.0	.	713	Q14674	ESPL1_HUMAN	K	713;388;713	ENSP00000257934:E713K;ENSP00000449831:E713K	ENSP00000257934:E713K	E	+	1	0	ESPL1	51957572	1.000000	0.71417	1.000000	0.80357	0.278000	0.26855	3.994000	0.56994	1.400000	0.46741	-0.176000	0.13171	GAA		0.502	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406899.2	NM_012291		16	38	0	0	0	0	16	38				
PDE1B	5153	broad.mit.edu	37	12	54968993	54968993	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:54968993C>G	ENST00000243052.3	+	11	1612	c.1176C>G	c.(1174-1176)ttC>ttG	p.F392L	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000550620.1_Missense_Mutation_p.F372L|PDE1B_ENST00000538346.1_Missense_Mutation_p.F351L	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	392	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|monocyte differentiation (GO:0030224)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of dopamine metabolic process (GO:0042053)|regulation of neurotransmitter levels (GO:0001505)|response to amphetamine (GO:0001975)|serotonin metabolic process (GO:0042428)|signal transduction (GO:0007165)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|metal ion binding (GO:0046872)	p.F392L(1)		endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31					Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	TGGAGGAATTCTTCCGTCAGG	0.577																																						uc001sgd.1		NA																	1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1174-1176)TTC>TTG		phosphodiesterase 1B isoform 1							156.0	130.0	139.0					12																	54968993		2203	4300	6503	SO:0001583	missense	5153				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	g.chr12:54968993C>G	U56976	CCDS8882.1, CCDS53800.1, CCDS73477.1	12q13	2008-03-18				ENSG00000123360	3.1.4.17	"""Phosphodiesterases"""	8775	protein-coding gene	gene with protein product		171891		PDES1B		8855339, 9419816	Standard	NM_000924		Approved		uc001sgd.2	Q01064	OTTHUMG00000169844	ENST00000243052.3:c.1176C>G	12.37:g.54968993C>G	ENSP00000243052:p.Phe392Leu					PDE1B_uc010soz.1_Missense_Mutation_p.F255L|PDE1B_uc010spa.1_Missense_Mutation_p.F351L|PDE1B_uc001sgf.2_Missense_Mutation_p.F255L|PDE1B_uc001sge.2_Missense_Mutation_p.F372L|PDE1B_uc009znq.2_Missense_Mutation_p.F188L	p.F392L	NM_000924	NP_000915	Q01064	PDE1B_HUMAN			11	1342	+			392			Catalytic (By similarity).		Q92825|Q96KP3	Missense_Mutation	SNP	ENST00000243052.3	37	c.1176C>G	CCDS8882.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.977040	0.74360	.	.	ENSG00000123360	ENST00000243052;ENST00000538346;ENST00000550620	D;D;D	0.90133	-2.62;-2.62;-2.62	5.25	4.36	0.52297	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.060554	0.64402	D	0.000003	D	0.95468	0.8528	M	0.93808	3.46	0.54753	D	0.999989	D;D	0.60160	0.987;0.971	P;D	0.64877	0.885;0.93	D	0.95244	0.8354	10	0.87932	D	0	.	8.3789	0.32459	0.0:0.8214:0.0:0.1786	.	372;392	Q01064-2;Q01064	.;PDE1B_HUMAN	L	392;351;372	ENSP00000243052:F392L;ENSP00000442559:F351L;ENSP00000448519:F372L	ENSP00000243052:F392L	F	+	3	2	PDE1B	53255260	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.998000	0.40796	1.351000	0.45789	0.561000	0.74099	TTC		0.577	PDE1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406203.1			27	85	0	0	0	0	27	85				
CDK4	1019	broad.mit.edu	37	12	58143273	58143273	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:58143273C>T	ENST00000257904.6	-	6	1012	c.647G>A	c.(646-648)gGa>gAa	p.G216E	CDK4_ENST00000551888.1_5'UTR|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000540325.1_Missense_Mutation_p.G96E|TSPAN31_ENST00000547992.1_3'UTR|CDK4_ENST00000312990.6_Missense_Mutation_p.E99K	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	216	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TTCAGAGTTTCCACAGAAGAG	0.418			Mis			melanoma			Hereditary Melanoma																													uc001spv.2		NA	yes	Dom		Familial malignant melanoma	12	12q14	1019	Mis	cyclin-dependent kinase 4			E		melanoma 			0				lung(1)|breast(1)|central_nervous_system(1)	3						c.(646-648)GGA>GAA		cyclin-dependent kinase 4							81.0	82.0	82.0					12																	58143273		2203	4300	6503	SO:0001583	missense	1019	Hereditary_Melanoma	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding	g.chr12:58143273C>T	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.647G>A	12.37:g.58143273C>T	ENSP00000257904:p.Gly216Glu					CDK4_uc010ssb.1_Missense_Mutation_p.G96E|CDK4_uc001spw.2_RNA|uc010ssc.1_5'Flank	p.G216E	NM_000075	NP_000066	P11802	CDK4_HUMAN	GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		6	874	-	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		216			Protein kinase.		B2R9A0|B4DNF9|O00576|Q6FG61	Missense_Mutation	SNP	ENST00000257904.6	37	c.647G>A	CCDS8953.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.834951|4.834951	0.91036|0.91036	.|.	.|.	ENSG00000135446|ENSG00000135446	ENST00000312990|ENST00000257904;ENST00000540325;ENST00000546489;ENST00000547281	T|T;T;T;T	0.32988|0.53423	1.43|0.62;0.62;0.62;0.62	4.67|4.67	4.67|4.67	0.58626|0.58626	.|Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.70133|0.70133	0.3189|0.3189	M|M	0.79343|0.79343	2.45|2.45	0.44508|0.44508	D|D	0.997458|0.997458	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.73658|0.73658	-0.3913|-0.3913	7|10	0.08179|0.87932	T|D	0.78|0	.|.	17.5538|17.5538	0.87885|0.87885	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|216	.|P11802	.|CDK4_HUMAN	K|E	99|216;96;142;142	ENSP00000316889:E99K|ENSP00000257904:G216E;ENSP00000439076:G96E;ENSP00000447779:G142E;ENSP00000447274:G142E	ENSP00000316889:E99K|ENSP00000257904:G216E	E|G	-|-	1|2	0|0	CDK4|CDK4	56429540|56429540	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.008000|7.008000	0.76341|0.76341	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.418	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408790.2	NM_000075		6	29	0	0	0	0	6	29				
SYT1	6857	broad.mit.edu	37	12	79685859	79685859	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr12:79685859G>T	ENST00000261205.4	+	6	1080	c.423G>T	c.(421-423)gaG>gaT	p.E141D	SYT1_ENST00000457153.2_Missense_Mutation_p.E138D|SYT1_ENST00000393240.3_Missense_Mutation_p.E141D|SYT1_ENST00000552744.1_Missense_Mutation_p.E141D	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	141	Phospholipid binding. {ECO:0000305}.				calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						AAGAAGAGGAGAAACTGGGAA	0.368																																						uc001sys.2		NA																	0				skin(3)|pancreas(2)|ovary(1)	6						c.(421-423)GAG>GAT		synaptotagmin I							121.0	132.0	129.0					12																	79685859		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79685859G>T		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.423G>T	12.37:g.79685859G>T	ENSP00000261205:p.Glu141Asp					SYT1_uc001syt.2_Missense_Mutation_p.E141D|SYT1_uc001syu.2_Missense_Mutation_p.E138D|SYT1_uc001syv.2_Missense_Mutation_p.E141D	p.E141D	NM_001135805	NP_001129277	P21579	SYT1_HUMAN			7	1094	+			141			Cytoplasmic (Potential).|Phospholipid binding (Probable).		Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.423G>T	CCDS9017.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.46|14.46	2.542592|2.542592	0.45280|0.45280	.|.	.|.	ENSG00000067715|ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552744;ENST00000552624;ENST00000446242|ENST00000549559	T;T;T;T;T;T|.	0.08370|.	3.1;3.1;3.1;3.1;3.1;3.1|.	5.66|5.66	3.51|3.51	0.40186|0.40186	.|.	0.205916|.	0.49916|.	D|.	0.000134|.	T|T	0.69593|0.69593	0.3128|0.3128	M|M	0.71206|0.71206	2.165|2.165	0.53005|0.53005	D|D	0.999961|0.999961	P;P|.	0.36712|.	0.566;0.566|.	B;B|.	0.32533|.	0.147;0.147|.	T|T	0.69292|0.69292	-0.5183|-0.5183	10|5	0.34782|.	T|.	0.22|.	.|.	10.8514|10.8514	0.46771|0.46771	0.2242:0.0:0.7758:0.0|0.2242:0.0:0.7758:0.0	.|.	141;141|.	Q6AI31;P21579|.	.;SYT1_HUMAN|.	D|I	141;141;138;141;138;141|43	ENSP00000376932:E141D;ENSP00000261205:E141D;ENSP00000391056:E138D;ENSP00000447575:E141D;ENSP00000448861:E138D;ENSP00000401559:E141D|.	ENSP00000261205:E141D|.	E|R	+|+	3|2	2|0	SYT1|SYT1	78209990|78209990	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.983000|0.983000	0.72400|0.72400	3.385000|3.385000	0.52485|0.52485	1.399000|1.399000	0.46721|0.46721	0.650000|0.650000	0.86243|0.86243	GAG|AGA		0.368	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		10	37	1	0	7.48e-07	3.85e-06	10	37				
PSPC1	55269	broad.mit.edu	37	13	20325582	20325582	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr13:20325582C>A	ENST00000338910.4	-	4	955	c.796G>T	c.(796-798)Gct>Tct	p.A266S		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	266	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		CCAGGTTGAGCAAAACGTGGT	0.378																																						uc001uml.2		NA																	0				breast(1)	1						c.(796-798)GCT>TCT		paraspeckle protein 1							88.0	77.0	80.0					13																	20325582		1871	4109	5980	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20325582C>A	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.796G>T	13.37:g.20325582C>A	ENSP00000343966:p.Ala266Ser					PSPC1_uc001umj.1_RNA|PSPC1_uc001umk.1_RNA	p.A266S	NM_001042414	NP_001035879	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	4	982	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	266			Sufficient for perinucleolar caps localization and interaction with NONO.|Sufficient for paraspeckles localization.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.796G>T	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.148763	0.78001	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.20598	2.06	4.83	4.83	0.62350	NOPS (1);	0.058134	0.64402	D	0.000002	T	0.34221	0.0890	M	0.66506	2.035	0.58432	D	0.999999	B	0.32467	0.372	B	0.42593	0.392	T	0.09422	-1.0675	10	0.33940	T	0.23	-13.5427	18.2964	0.90147	0.0:1.0:0.0:0.0	.	266	Q8WXF1	PSPC1_HUMAN	S	266;206	ENSP00000343966:A266S	ENSP00000343966:A266S	A	-	1	0	PSPC1	19223582	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.003000	0.70701	2.399000	0.81585	0.555000	0.69702	GCT		0.378	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			12	41	1	0	0.000978159	0.00469724	12	41				
ATP7B	540	broad.mit.edu	37	13	52542595	52542595	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr13:52542595G>A	ENST00000242839.4	-	4	1848	c.1692C>T	c.(1690-1692)ggC>ggT	p.G564G	ATP7B_ENST00000344297.5_Silent_p.G564G|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000400366.3_Silent_p.G453G|ATP7B_ENST00000418097.2_Silent_p.G564G|ATP7B_ENST00000448424.2_Silent_p.G564G|ATP7B_ENST00000542656.1_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	564					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GCTCAATGTTGCCATCGGAGC	0.498									Wilson disease																													uc001vfw.2		NA																	0				ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1690-1692)GGC>GGT		ATPase, Cu++ transporting, beta polypeptide							87.0	91.0	90.0					13																	52542595		2142	4239	6381	SO:0001819	synonymous_variant	540	Wilson_disease	Familial Cancer Database		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding	g.chr13:52542595G>A	U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1692C>T	13.37:g.52542595G>A						ATP7B_uc010adv.2_Intron|ATP7B_uc001vfx.2_Silent_p.G564G|ATP7B_uc001vfy.2_Silent_p.G453G|ATP7B_uc010tgt.1_Silent_p.G564G|ATP7B_uc010tgu.1_Silent_p.G564G|ATP7B_uc010tgv.1_Silent_p.G564G|ATP7B_uc010tgw.1_Intron	p.G564G	NM_000053	NP_000044	P35670	ATP7B_HUMAN		GBM - Glioblastoma multiforme(99;5.25e-08)	4	1849	-		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)	564			Cytoplasmic (Potential).		Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	ENST00000242839.4	37	c.1692C>T	CCDS41892.1																																																																																				0.498	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045981.1	NM_000053		8	39	0	0	0	0	8	39				
DACH1	1602	broad.mit.edu	37	13	72053410	72053410	+	Silent	SNP	T	T	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr13:72053410T>C	ENST00000359684.2	-	9	1922	c.1923A>G	c.(1921-1923)caA>caG	p.Q641Q	DACH1_ENST00000313174.7_Silent_p.Q441Q|DACH1_ENST00000354591.4_Silent_p.Q387Q|DACH1_ENST00000305425.4_Silent_p.Q589Q			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	641	DACHbox-C.|Interaction with SIN3A. {ECO:0000250}.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		CCTGTTTCTCTTGAGCTCTGG	0.373																																						uc010thn.1		NA																	0				breast(1)	1						c.(1759-1761)CAA>CAG		dachshund homolog 1 isoform a							119.0	112.0	114.0					13																	72053410		1811	4075	5886	SO:0001819	synonymous_variant	1602				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	g.chr13:72053410T>C	AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.1923A>G	13.37:g.72053410T>C						DACH1_uc010tho.1_Silent_p.Q439Q|DACH1_uc010thp.1_Silent_p.Q385Q	p.Q587Q	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN		GBM - Glioblastoma multiforme(99;0.00032)	9	2184	-		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)	639			DACHbox-C.|Potential.|Interaction with SIN3A (By similarity).		D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37	c.1761A>G																																																																																					0.373	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1	NM_004392		20	86	0	0	0	0	20	86				
MYH7	4625	broad.mit.edu	37	14	23886750	23886750	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:23886750C>T	ENST00000355349.3	-	31	4477	c.4315G>A	c.(4315-4317)Gct>Act	p.A1439T	MIR208B_ENST00000401172.1_RNA|CTD-2201G16.1_ENST00000557368.1_RNA	NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1439					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AGGGCTGCAGCAGCAGCATTG	0.602																																						uc001wjx.2		NA																	0				ovary(3)|skin(1)	4						c.(4315-4317)GCT>ACT		myosin, heavy chain 7, cardiac muscle, beta							124.0	117.0	120.0					14																	23886750		2203	4300	6503	SO:0001583	missense	4625				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr14:23886750C>T	M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.4315G>A	14.37:g.23886750C>T	ENSP00000347507:p.Ala1439Thr						p.A1439T	NM_000257	NP_000248	P12883	MYH7_HUMAN		GBM - Glioblastoma multiforme(265;0.00725)	31	4421	-	all_cancers(95;2.54e-05)		1439			Potential.		A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	ENST00000355349.3	37	c.4315G>A	CCDS9601.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.820021	0.90873	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.82893	-1.66	4.99	4.99	0.66335	Myosin tail (1);	.	.	.	.	D	0.92277	0.7550	M	0.93594	3.435	0.58432	D	0.999994	P	0.48230	0.907	P	0.59643	0.861	D	0.93872	0.7163	9	0.87932	D	0	.	14.9447	0.71020	0.143:0.857:0.0:0.0	.	1439	P12883	MYH7_HUMAN	T	1439;1444	ENSP00000347507:A1439T	ENSP00000347507:A1439T	A	-	1	0	MYH7	22956590	0.938000	0.31826	0.998000	0.56505	0.963000	0.63663	2.379000	0.44318	2.609000	0.88269	0.561000	0.74099	GCT		0.602	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071798.3	NM_000257		17	86	0	0	0	0	17	86				
PRKD1	5587	broad.mit.edu	37	14	30135410	30135410	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:30135410G>A	ENST00000331968.5	-	3	637	c.408C>T	c.(406-408)tcC>tcT	p.S136S	PRKD1_ENST00000415220.2_Silent_p.S136S	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	136					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CAAAGGTGGCGGAAGCTGTAA	0.403																																						uc001wqh.2		NA																	0				lung(3)|large_intestine(2)|ovary(2)|skin(1)	8						c.(406-408)TCC>TCT		protein kinase D1							106.0	102.0	104.0					14																	30135410		2203	4300	6503	SO:0001819	synonymous_variant	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30135410G>A		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.408C>T	14.37:g.30135410G>A							p.S136S	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	3	589	-	Hepatocellular(127;0.0604)		136					A6NL64|B2RAF6	Silent	SNP	ENST00000331968.5	37	c.408C>T	CCDS9637.1																																																																																				0.403	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		19	52	0	0	0	0	19	52				
FBXO34	55030	broad.mit.edu	37	14	55818744	55818744	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:55818744G>C	ENST00000313833.4	+	2	1881	c.1636G>C	c.(1636-1638)Gag>Cag	p.E546Q	FBXO34_ENST00000440021.1_Missense_Mutation_p.E546Q	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	546										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						ACCAGTGCTTGAGGCATCCAG	0.507																																						uc001xbu.2		NA																	0				ovary(2)|lung(2)|skin(1)	5						c.(1636-1638)GAG>CAG		F-box only protein 34							121.0	115.0	117.0					14																	55818744		2203	4300	6503	SO:0001583	missense	55030							g.chr14:55818744G>C	AK000732	CCDS32086.1	14q22.1	2004-08-24	2004-06-15			ENSG00000178974		"""F-boxes /  ""other"""""	20201	protein-coding gene	gene with protein product		609104	"""F-box only protein 34"""				Standard	NM_017943		Approved	FLJ20725, Fbx34	uc010aoo.3	Q9NWN3		ENST00000313833.4:c.1636G>C	14.37:g.55818744G>C	ENSP00000313159:p.Glu546Gln					FBXO34_uc001xbv.2_RNA|FBXO34_uc010aoo.2_Missense_Mutation_p.E546Q	p.E546Q	NM_017943	NP_060413	Q9NWN3	FBX34_HUMAN			2	1881	+			546					Q2VPB5|Q4VBP5|Q86TY4	Missense_Mutation	SNP	ENST00000313833.4	37	c.1636G>C	CCDS32086.1	.	.	.	.	.	.	.	.	.	.	G	0.609	-0.825949	0.02734	.	.	ENSG00000178974	ENST00000313833;ENST00000440021	T;T	0.20598	2.06;2.06	5.49	1.64	0.23874	.	0.338132	0.20525	N	0.090631	T	0.18593	0.0446	L	0.54323	1.7	0.09310	N	1	B	0.21071	0.051	B	0.17433	0.018	T	0.18053	-1.0349	10	0.56958	D	0.05	.	7.3882	0.26895	0.2:0.1214:0.6786:0.0	.	546	Q9NWN3	FBX34_HUMAN	Q	546	ENSP00000313159:E546Q;ENSP00000394117:E546Q	ENSP00000313159:E546Q	E	+	1	0	FBXO34	54888497	0.998000	0.40836	0.003000	0.11579	0.044000	0.14063	3.197000	0.51028	0.142000	0.18901	-0.136000	0.14681	GAG		0.507	FBXO34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411322.1			41	122	0	0	0	0	41	122				
ZFYVE26	23503	broad.mit.edu	37	14	68215205	68215205	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:68215205C>T	ENST00000347230.4	-	42	7706	c.7568G>A	c.(7567-7569)tGg>tAg	p.W2523*	RN7SL213P_ENST00000463482.2_RNA	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2523					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGTCAGAAGCCACTGGGCACA	0.642																																						uc001xka.2		NA																	0				ovary(9)|breast(2)	11						c.(7567-7569)TGG>TAG		zinc finger, FYVE domain containing 26							61.0	58.0	59.0					14																	68215205		2203	4300	6503	SO:0001587	stop_gained	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68215205C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.7568G>A	14.37:g.68215205C>T	ENSP00000251119:p.Trp2523*					ZFYVE26_uc010tsz.1_RNA	p.W2523*	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	42	7707	-			2523					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Nonsense_Mutation	SNP	ENST00000347230.4	37	c.7568G>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	49	15.228895	0.99827	.	.	ENSG00000072121	ENST00000347230;ENST00000411699	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8879	20.0989	0.97860	0.0:1.0:0.0:0.0	.	.	.	.	X	2523;2502	.	ENSP00000251119:W2523X	W	-	2	0	ZFYVE26	67284958	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.414000	0.80117	2.830000	0.97506	0.655000	0.94253	TGG		0.642	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346		4	64	0	0	0	0	4	64				
CPSF2	53981	broad.mit.edu	37	14	92601740	92601740	+	Silent	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:92601740C>T	ENST00000298875.4	+	6	730	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	149					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		TATCACACCTCTGCCAGCTGG	0.368																																					Ovarian(78;28 1788 18702 44111)	uc001yah.1		NA																	0				ovary(2)	2						c.(445-447)CTG>TTG		cleavage and polyadenylation specific factor 2							130.0	126.0	128.0					14																	92601740		2203	4300	6503	SO:0001819	synonymous_variant	53981				histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding	g.chr14:92601740C>T	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.445C>T	14.37:g.92601740C>T							p.L149L	NM_017437	NP_059133	Q9P2I0	CPSF2_HUMAN		COAD - Colon adenocarcinoma(157;0.222)	6	682	+		all_cancers(154;0.0766)	149					B3KME1|Q6NSJ1|Q9H3W7	Silent	SNP	ENST00000298875.4	37	c.445C>T	CCDS9902.1																																																																																				0.368	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1			14	57	0	0	0	0	14	57				
EXOC3L4	91828	broad.mit.edu	37	14	103573994	103573994	+	Silent	SNP	C	C	T	rs368209664		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr14:103573994C>T	ENST00000380069.3	+	9	1804	c.1728C>T	c.(1726-1728)ttC>ttT	p.F576F		NM_001077594.1	NP_001071062.1	Q17RC7	EX3L4_HUMAN	exocyst complex component 3-like 4	576					exocytosis (GO:0006887)	exocyst (GO:0000145)				cervix(2)|endometrium(2)|lung(4)|ovary(1)|skin(1)	10						TGCACCGGTTCGTGGTCCGCG	0.697																																						uc001ymk.2		NA																	0					0						c.(1726-1728)TTC>TTT		hypothetical protein LOC91828		C		2,4364		0,2,2181	17.0	17.0	17.0		1728	-5.8	0.0	14		17	0,8526		0,0,4263	no	coding-synonymous	EXOC3L4	NM_001077594.1		0,2,6444	TT,TC,CC		0.0,0.0458,0.0155		576/723	103573994	2,12890	2183	4263	6446	SO:0001819	synonymous_variant	91828							g.chr14:103573994C>T	AK000671	CCDS32163.1	14q32.32	2011-01-31	2011-01-31	2011-01-31	ENSG00000205436	ENSG00000205436			20120	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 73"""	C14orf73			Standard	NM_001077594		Approved		uc001ymk.3	Q17RC7		ENST00000380069.3:c.1728C>T	14.37:g.103573994C>T							p.F576F	NM_001077594	NP_001071062	Q17RC7	EX3L4_HUMAN	Epithelial(46;0.221)		9	1804	+		Melanoma(154;0.155)	576					Q14CR2	Silent	SNP	ENST00000380069.3	37	c.1728C>T	CCDS32163.1																																																																																				0.697	EXOC3L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415663.1	XM_941093		4	7	0	0	0	0	4	7				
SHC4	399694	broad.mit.edu	37	15	49127202	49127202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr15:49127202G>A	ENST00000332408.4	-	11	1929	c.1501C>T	c.(1501-1503)Cag>Tag	p.Q501*	SHC4_ENST00000396535.3_Nonsense_Mutation_p.Q258*|SHC4_ENST00000537958.1_Nonsense_Mutation_p.Q215*	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	501	CH1.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		GCACCCGGCTGAACAGTTTCT	0.468																																						uc001zxb.1		NA																	0				ovary(3)|pancreas(2)	5						c.(1501-1503)CAG>TAG		rai-like protein							41.0	37.0	38.0					15																	49127202		2197	4295	6492	SO:0001587	stop_gained	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49127202G>A	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.1501C>T	15.37:g.49127202G>A	ENSP00000329668:p.Gln501*					SHC4_uc010uey.1_Nonsense_Mutation_p.Q258*|SHC4_uc010uez.1_Nonsense_Mutation_p.Q215*	p.Q501*	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	11	1930	-		all_lung(180;0.00466)	501			CH1.		Q6UXQ3|Q8IYW3	Nonsense_Mutation	SNP	ENST00000332408.4	37	c.1501C>T	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	G	39	7.313931	0.98207	.	.	ENSG00000185634	ENST00000332408;ENST00000396535;ENST00000537958	.	.	.	4.76	4.76	0.60689	.	0.443402	0.21935	N	0.066963	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-7.437	12.8256	0.57718	0.0:0.1638:0.8362:0.0	.	.	.	.	X	501;258;215	.	ENSP00000329668:Q501X	Q	-	1	0	SHC4	46914494	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	5.237000	0.65360	2.473000	0.83533	0.467000	0.42956	CAG		0.468	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349		4	11	0	0	0	0	4	11				
SECISBP2L	9728	broad.mit.edu	37	15	49288750	49288750	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr15:49288750C>T	ENST00000559471.1	-	17	2700	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.E768K|Y_RNA_ENST00000384377.1_RNA	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	813							poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TTCCTGGCCTCCTCAGTGAGT	0.368																																						uc001zxe.1		NA																	0				breast(1)|skin(1)	2						c.(2437-2439)GAG>AAG		SECIS binding protein 2-like							183.0	178.0	180.0					15																	49288750		2197	4295	6492	SO:0001583	missense	9728							g.chr15:49288750C>T	BC033001	CCDS32234.1, CCDS53942.1	15q21.1	2014-02-12				ENSG00000138593			28997	protein-coding gene	gene with protein product		615756					Standard	NM_001193489		Approved	KIAA0256	uc001zxe.2	Q93073		ENST00000559471.1:c.2437G>A	15.37:g.49288750C>T	ENSP00000453854:p.Glu813Lys					SECISBP2L_uc001zxd.1_Missense_Mutation_p.E768K|SECISBP2L_uc010bep.1_Missense_Mutation_p.E575K	p.E813K	NM_014701	NP_055516	Q93073	SBP2L_HUMAN			17	2571	-			813					Q8N767	Missense_Mutation	SNP	ENST00000559471.1	37	c.2437G>A	CCDS53942.1	.	.	.	.	.	.	.	.	.	.	C	34	5.379427	0.95945	.	.	ENSG00000138593	ENST00000261847;ENST00000380927	D	0.92545	-3.06	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.91895	0.7434	L	0.29908	0.895	0.58432	D	0.999999	D;D	0.60575	0.979;0.988	P;P	0.55545	0.525;0.778	D	0.92266	0.5821	10	0.49607	T	0.09	.	18.3573	0.90362	0.0:1.0:0.0:0.0	.	813;768	Q93073;Q93073-2	SBP2L_HUMAN;.	K	768;813	ENSP00000261847:E768K	ENSP00000261847:E768K	E	-	1	0	SECISBP2L	47076042	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.300000	0.78841	2.569000	0.86673	0.650000	0.86243	GAG		0.368	SECISBP2L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417277.1	NM_014701		55	192	0	0	0	0	55	192				
THSD4	79875	broad.mit.edu	37	15	72039251	72039251	+	Missense_Mutation	SNP	G	G	T	rs201879533	byFrequency	TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr15:72039251G>T	ENST00000355327.3	+	13	2245	c.2111G>T	c.(2110-2112)cGc>cTc	p.R704L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R344L|THSD4_ENST00000261862.6_Missense_Mutation_p.R704L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	704	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GTTCTGTGCCGCCAGGTGTAC	0.627													G|||	2	0.000399361	0.0	0.0029	5008	,	,		17252	0.0		0.0	False		,,,				2504	0.0					uc002atb.1		NA																	0				ovary(2)	2						c.(2110-2112)CGC>CTC		thrombospondin, type I, domain containing 4							44.0	53.0	50.0					15																	72039251		2185	4289	6474	SO:0001583	missense	79875					proteinaceous extracellular matrix	metalloendopeptidase activity	g.chr15:72039251G>T	AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.2111G>T	15.37:g.72039251G>T	ENSP00000347484:p.Arg704Leu					THSD4_uc002ate.2_Missense_Mutation_p.R344L	p.R704L	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN			12	2190	+			704			TSP type-1 2.		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	ENST00000355327.3	37	c.2111G>T	CCDS10238.2	2	9.157509157509158E-4	0	0.0	2	0.0055248618784530384	0	0.0	0	0.0	G	31	5.069372	0.93950	.	.	ENSG00000187720	ENST00000355327;ENST00000261862;ENST00000357769	T;T;T	0.52754	0.65;0.65;0.65	5.08	5.08	0.68730	.	.	.	.	.	T	0.49098	0.1537	L	0.41356	1.27	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.44651	-0.9314	9	0.11794	T	0.64	.	15.9463	0.79796	0.0:0.0:1.0:0.0	.	344;704	B4DR13;Q6ZMP0	.;THSD4_HUMAN	L	704;704;344	ENSP00000347484:R704L;ENSP00000261862:R704L;ENSP00000350413:R344L	ENSP00000261862:R704L	R	+	2	0	THSD4	69826305	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.519000	0.98025	2.347000	0.79759	0.650000	0.86243	CGC		0.627	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257253.2	NM_024817		13	27	1	0	1.36e-06	6.98e-06	13	27				
CHSY1	22856	broad.mit.edu	37	15	101719133	101719133	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr15:101719133C>G	ENST00000254190.3	-	3	1344	c.869G>C	c.(868-870)aGa>aCa	p.R290T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	290					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of ossification (GO:0030279)|response to nutrient levels (GO:0031667)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)	p.R290T(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGGAGATCTCTAATGTACCC	0.398																																						uc002bwt.1		NA																	1	Substitution - Missense(1)		cervix(1)		0						c.(868-870)AGA>ACA		chondroitin sulfate synthase 1							106.0	110.0	108.0					15																	101719133		2203	4300	6503	SO:0001583	missense	22856				chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr15:101719133C>G	AB023207	CCDS10390.1	15q26.3	2013-02-19	2008-01-24	2008-01-24	ENSG00000131873	ENSG00000131873	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	17198	protein-coding gene	gene with protein product		608183	"""carbohydrate (chondroitin) synthase 1"""			11514575	Standard	NM_014918		Approved	KIAA0990, CSS1	uc021sxt.1	Q86X52	OTTHUMG00000149873	ENST00000254190.3:c.869G>C	15.37:g.101719133C>G	ENSP00000254190:p.Arg290Thr					CHSY1_uc010usd.1_Missense_Mutation_p.R18T	p.R290T	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		4	1352	-	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		290			Lumenal (Potential).		Q6UX38|Q7LFU5|Q9Y2J5	Missense_Mutation	SNP	ENST00000254190.3	37	c.869G>C	CCDS10390.1	.	.	.	.	.	.	.	.	.	.	C	12.14	1.848637	0.32699	.	.	ENSG00000131873	ENST00000254190;ENST00000543813	D	0.89617	-2.54	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.84781	0.5548	L	0.47716	1.5	0.58432	D	0.999998	B	0.15719	0.014	B	0.25506	0.061	T	0.78763	-0.2077	10	0.16420	T	0.52	-30.3489	13.1667	0.59575	0.0:0.9237:0.0:0.0763	.	290	Q86X52	CHSS1_HUMAN	T	290;18	ENSP00000254190:R290T	ENSP00000254190:R290T	R	-	2	0	CHSY1	99536656	1.000000	0.71417	0.998000	0.56505	0.990000	0.78478	3.914000	0.56401	2.448000	0.82819	0.561000	0.74099	AGA		0.398	CHSY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313624.1	NM_014918		13	57	0	0	0	0	13	57				
ABCA3	21	broad.mit.edu	37	16	2347779	2347779	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:2347779G>A	ENST00000301732.5	-	16	2740	c.2040C>T	c.(2038-2040)atC>atT	p.I680I	ABCA3_ENST00000382381.3_Silent_p.I622I	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	680	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	TGGAGCCTGCGATGAGGGCGA	0.662																																						uc002cpy.1		NA																	0				breast(5)|ovary(5)|central_nervous_system(3)|upper_aerodigestive_tract(1)|lung(1)|skin(1)	16						c.(2038-2040)ATC>ATT		ATP-binding cassette, sub-family A member 3							66.0	60.0	62.0					16																	2347779		2198	4300	6498	SO:0001819	synonymous_variant	21				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:2347779G>A	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.2040C>T	16.37:g.2347779G>A						ABCA3_uc010bsk.1_Silent_p.I622I|ABCA3_uc010bsl.1_Silent_p.I680I	p.I680I	NM_001089	NP_001080	Q99758	ABCA3_HUMAN			16	2752	-		Ovarian(90;0.17)	680			ABC transporter 1.		B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	ENST00000301732.5	37	c.2040C>T	CCDS10466.1																																																																																				0.662	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250784.2	NM_001089		10	54	0	0	0	0	10	54				
ZNF174	7727	broad.mit.edu	37	16	3452371	3452371	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:3452371G>T	ENST00000268655.4	+	1	952	c.367G>T	c.(367-369)Gat>Tat	p.D123Y	ZNF174_ENST00000575752.1_Missense_Mutation_p.D123Y|ZNF174_ENST00000571936.1_Missense_Mutation_p.D123Y|ZSCAN32_ENST00000422427.2_5'Flank|ZSCAN32_ENST00000573830.1_5'Flank|ZNF174_ENST00000572544.1_Missense_Mutation_p.D123Y|ZSCAN32_ENST00000396852.4_5'Flank|ZNF174_ENST00000344823.5_Missense_Mutation_p.D123Y|ZSCAN32_ENST00000304926.3_5'Flank|ZSCAN32_ENST00000439568.2_5'Flank	NM_003450.2	NP_003441.1	Q15697	ZN174_HUMAN	zinc finger protein 174	123	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase II promoter (GO:0006366)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						CCTCGTGGAAGATTTTCACAG	0.488																																						uc002cvc.2		NA																	0					0						c.(367-369)GAT>TAT		zinc finger protein 174 isoform a							65.0	67.0	66.0					16																	3452371		2197	4300	6497	SO:0001583	missense	7727				negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:3452371G>T	U31248	CCDS10504.1, CCDS32380.1	16p13	2013-01-09			ENSG00000103343	ENSG00000103343		"""-"", ""Zinc fingers, C2H2-type"""	12963	protein-coding gene	gene with protein product		603900					Standard	NM_003450		Approved	ZSCAN8	uc002cvc.3	Q15697	OTTHUMG00000129358	ENST00000268655.4:c.367G>T	16.37:g.3452371G>T	ENSP00000268655:p.Asp123Tyr					ZNF434_uc002cux.3_5'Flank|ZNF434_uc010uwx.1_5'Flank|ZNF434_uc002cuy.3_5'Flank|ZNF434_uc002cuz.2_5'Flank|ZNF434_uc010uwy.1_5'Flank|ZNF434_uc010uxa.1_5'Flank|ZNF174_uc002cva.2_Missense_Mutation_p.D123Y|ZNF174_uc002cvb.2_Missense_Mutation_p.D123Y	p.D123Y	NM_003450	NP_003441	Q15697	ZN174_HUMAN			1	1182	+			123			SCAN box.		Q53Y68|Q9BQ34	Missense_Mutation	SNP	ENST00000268655.4	37	c.367G>T	CCDS10504.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.914070	0.33815	.	.	ENSG00000103343	ENST00000344823;ENST00000268655	T;T	0.07688	3.17;3.17	4.5	3.55	0.40652	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.130684	0.35349	N	0.003278	T	0.20941	0.0504	M	0.72576	2.205	0.37810	D	0.928019	D;D;D	0.63880	0.975;0.993;0.986	P;D;D	0.64237	0.89;0.911;0.923	T	0.02378	-1.1168	10	0.54805	T	0.06	.	7.22	0.25981	0.1942:0.0:0.8058:0.0	.	123;123;123	Q15697;Q15697-2;Q8IZN5	ZN174_HUMAN;.;.	Y	123	ENSP00000339781:D123Y;ENSP00000268655:D123Y	ENSP00000268655:D123Y	D	+	1	0	ZNF174	3392372	1.000000	0.71417	0.996000	0.52242	0.891000	0.51852	2.235000	0.43044	1.496000	0.48567	0.655000	0.94253	GAT		0.488	ZNF174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251510.1	NM_003450		20	50	1	0	1.56e-14	8.47e-14	20	50				
CREBBP	1387	broad.mit.edu	37	16	3778424	3778424	+	Silent	SNP	T	T	C	rs142545779	byFrequency	TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:3778424T>C	ENST00000262367.5	-	31	7433	c.6624A>G	c.(6622-6624)caA>caG	p.Q2208Q	CREBBP_ENST00000382070.3_Silent_p.Q2170Q	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	2208	Poly-Gln.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.Q2208H(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		gttgctgctgttgttgctgct	0.617			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome						T|||	45	0.00898562	0.0318	0.0029	5008	,	,		17705	0.0		0.001	False		,,,				2504	0.0					uc002cvv.2		NA		Dom/Rec	yes		16	16p13.3	1387	T|N|F|Mis|O	CREB binding protein (CBP)	yes	Rubinstein-Taybi syndrome	L	MLL|MORF|RUNXBP2		ALL|AML|DLBCL|B-NHL 		1	Substitution - Missense(1)	p.Q2208H(1)	haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127						c.(6622-6624)CAA>CAG		CREB binding protein isoform a		T	,	118,4276	74.1+/-112.3	3,112,2082	33.0	30.0	31.0		6510,6624	-3.5	0.9	16	dbSNP_134	31	5,8595	4.3+/-15.6	0,5,4295	no	coding-synonymous,coding-synonymous	CREBBP	NM_001079846.1,NM_004380.2	,	3,117,6377	CC,CT,TT		0.0581,2.6855,0.9466	,	2170/2405,2208/2443	3778424	123,12871	2197	4300	6497	SO:0001819	synonymous_variant	1387	Rubinstein-Taybi_syndrome			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	g.chr16:3778424T>C	U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.6624A>G	16.37:g.3778424T>C						CREBBP_uc002cvw.2_Silent_p.Q2170Q	p.Q2208Q	NM_004380	NP_004371	Q92793	CBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)	31	6828	-		Ovarian(90;0.0266)	2208			Poly-Gln.		D3DUC9|O00147|Q16376|Q4LE28	Silent	SNP	ENST00000262367.5	37	c.6624A>G	CCDS10509.1																																																																																				0.617	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251591.2	NM_004380		6	32	0	0	0	0	6	32				
NOD2	64127	broad.mit.edu	37	16	50745602	50745602	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:50745602G>A	ENST00000300589.2	+	4	1885	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	594	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGTCGTGCCAGGGAGTACGGC	0.577																																						uc002egm.1		NA																	0				ovary(3)|skin(1)	4						c.(1780-1782)GGG>AGG		nucleotide-binding oligomerization domain							71.0	46.0	54.0					16																	50745602		2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745602G>A	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1780G>A	16.37:g.50745602G>A	ENSP00000300589:p.Gly594Arg					NOD2_uc010cbk.1_Missense_Mutation_p.G567R|NOD2_uc002egl.1_Missense_Mutation_p.G372R|NOD2_uc010cbl.1_Missense_Mutation_p.G372R|NOD2_uc010cbm.1_Missense_Mutation_p.G372R|NOD2_uc010cbn.1_RNA|NOD2_uc010cbo.1_RNA|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	p.G594R	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN			4	1885	+		all_cancers(37;0.0156)	594			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1780G>A	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	G	6.117	0.389779	0.11581	.	.	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.70399	-0.48	5.16	4.21	0.49690	.	0.327109	0.26907	N	0.021884	T	0.79221	0.4409	M	0.78637	2.42	0.09310	N	1	P;P;D	0.61080	0.839;0.887;0.989	B;P;P	0.56474	0.408;0.595;0.799	T	0.71826	-0.4475	10	0.59425	D	0.04	.	11.0362	0.47802	0.0909:0.0:0.9091:0.0	.	378;567;594	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	R	567;594	ENSP00000300589:G594R	ENSP00000300589:G594R	G	+	1	0	NOD2	49303103	0.001000	0.12720	0.016000	0.15963	0.001000	0.01503	0.807000	0.27140	1.170000	0.42753	0.561000	0.74099	GGG		0.577	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		10	26	0	0	0	0	10	26				
RBL2	5934	broad.mit.edu	37	16	53524139	53524139	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:53524139G>C	ENST00000262133.6	+	22	3484	c.3347G>C	c.(3346-3348)aGa>aCa	p.R1116T	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.R495T	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2	1116					chromatin modification (GO:0016568)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCTGCAAAAAGAATTTGCCCA	0.393																																						uc002ehi.3		NA																	0				ovary(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(3346-3348)AGA>ACA		retinoblastoma-like 2 (p130)							103.0	102.0	103.0					16																	53524139		2198	4300	6498	SO:0001583	missense	5934				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr16:53524139G>C	X74594	CCDS10748.1	16q12.2	2014-03-11	2014-03-11		ENSG00000103479	ENSG00000103479			9894	protein-coding gene	gene with protein product		180203				8361765, 8643454	Standard	NM_005611		Approved	Rb2, p130	uc002ehi.4	Q08999	OTTHUMG00000133198	ENST00000262133.6:c.3347G>C	16.37:g.53524139G>C	ENSP00000262133:p.Arg1116Thr					RBL2_uc002ehj.2_Missense_Mutation_p.R826T|RBL2_uc010vgw.1_Missense_Mutation_p.R495T	p.R1116T	NM_005611	NP_005602	Q08999	RBL2_HUMAN			22	3465	+			1116					B7Z913|Q15073|Q16084|Q8NE70|Q92812	Missense_Mutation	SNP	ENST00000262133.6	37	c.3347G>C	CCDS10748.1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935355	0.92458	.	.	ENSG00000103479	ENST00000262133;ENST00000379935;ENST00000544545	D;D	0.93366	-3.21;-2.53	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	D	0.96673	0.8914	M	0.76574	2.34	0.31802	N	0.628336	D;D;D	0.89917	0.998;1.0;0.999	D;D;D	0.78314	0.987;0.971;0.991	D	0.95856	0.8879	10	0.87932	D	0	-25.4747	20.0401	0.97581	0.0:0.0:1.0:0.0	.	495;826;1116	B7Z913;E9PG04;Q08999	.;.;RBL2_HUMAN	T	1116;826;495	ENSP00000262133:R1116T;ENSP00000444685:R495T	ENSP00000262133:R1116T	R	+	2	0	RBL2	52081640	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.005000	0.76323	2.805000	0.96524	0.655000	0.94253	AGA		0.393	RBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256908.3	NM_005611		21	49	0	0	0	0	21	49				
GOT2	2806	broad.mit.edu	37	16	58743428	58743428	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:58743428G>A	ENST00000245206.5	-	9	1191	c.1063C>T	c.(1063-1065)Cgg>Tgg	p.R355W	GOT2_ENST00000434819.2_Missense_Mutation_p.R312W	NM_002080.2	NP_002071.2	P00505	AATM_HUMAN	glutamic-oxaloacetic transaminase 2, mitochondrial	355					2-oxoglutarate metabolic process (GO:0006103)|4-hydroxyproline catabolic process (GO:0019470)|aspartate biosynthetic process (GO:0006532)|aspartate catabolic process (GO:0006533)|aspartate metabolic process (GO:0006531)|carbohydrate metabolic process (GO:0005975)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|fatty acid transport (GO:0015908)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glutamate catabolic process to 2-oxoglutarate (GO:0019551)|glutamate catabolic process to aspartate (GO:0019550)|glutamate metabolic process (GO:0006536)|oxaloacetate metabolic process (GO:0006107)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	kynurenine-oxoglutarate transaminase activity (GO:0016212)|L-aspartate:2-oxoglutarate aminotransferase activity (GO:0004069)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|poly(A) RNA binding (GO:0044822)|pyridoxal phosphate binding (GO:0030170)	p.R355W(2)|p.R355G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|prostate(2)|skin(1)	22					L-Aspartic Acid(DB00128)	AGTTGAGTCCGCATGCCAATG	0.507																																						uc002eof.1		NA																	3	Substitution - Missense(3)		prostate(1)|lung(1)|endometrium(1)	central_nervous_system(1)|skin(1)	2						c.(1063-1065)CGG>TGG		aspartate aminotransferase 2 precursor	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)						222.0	211.0	215.0					16																	58743428		2198	4300	6498	SO:0001583	missense	2806				aspartate catabolic process|fatty acid transport|gluconeogenesis|response to ethanol	mitochondrial matrix|plasma membrane	L-aspartate:2-oxoglutarate aminotransferase activity|protein binding|pyridoxal phosphate binding	g.chr16:58743428G>A		CCDS10801.1, CCDS67045.1	16q21	2013-05-29	2013-05-29		ENSG00000125166	ENSG00000125166	2.6.1.1		4433	protein-coding gene	gene with protein product	"""kynurenine aminotransferase IV"", ""aspartate aminotransferase 2"", ""aspartate transaminase 2"""	138150	"""glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2)"""			17442055	Standard	NM_002080		Approved	mitAAT, KATIV, KAT4	uc002eof.1	P00505	OTTHUMG00000133769	ENST00000245206.5:c.1063C>T	16.37:g.58743428G>A	ENSP00000245206:p.Arg355Trp					GOT2_uc010vim.1_Missense_Mutation_p.R312W	p.R355W	NM_002080	NP_002071	P00505	AATM_HUMAN			9	1177	-			355					B4DJA6|E7ERW2|Q53FL3|Q9BWA3	Missense_Mutation	SNP	ENST00000245206.5	37	c.1063C>T	CCDS10801.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.418094	0.62622	.	.	ENSG00000125166	ENST00000245206;ENST00000434819	T;T	0.34275	1.37;1.37	5.31	0.557	0.17260	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.70684	0.3252	H	0.98754	4.32	0.80722	D	1	D;D	0.89917	0.996;1.0	P;D	0.85130	0.874;0.997	T	0.76583	-0.2906	9	.	.	.	-0.235	9.3835	0.38329	0.0714:0.0:0.526:0.4025	.	312;355	E7ERW2;P00505	.;AATM_HUMAN	W	355;312	ENSP00000245206:R355W;ENSP00000394100:R312W	.	R	-	1	2	GOT2	57300929	1.000000	0.71417	0.999000	0.59377	0.941000	0.58515	1.345000	0.33953	0.584000	0.29591	-0.128000	0.14901	CGG		0.507	GOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258289.3			7	282	0	0	0	0	7	282				
SLC38A8	146167	broad.mit.edu	37	16	84065527	84065527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr16:84065527C>T	ENST00000299709.3	-	4	576	c.577G>A	c.(577-579)Gtg>Atg	p.V193M		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	193					amino acid transport (GO:0006865)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TAGTACTGCACGGTGATGACC	0.622																																						uc002fhg.1		NA																	0					0						c.(577-579)GTG>ATG		solute carrier family 38, member 8							145.0	115.0	125.0					16																	84065527		2200	4300	6500	SO:0001583	missense	146167				amino acid transport|sodium ion transport	integral to membrane		g.chr16:84065527C>T		CCDS32495.1	16q23.3	2013-05-22				ENSG00000166558		"""Solute carriers"""	32434	protein-coding gene	gene with protein product		615585					Standard	XM_006721135		Approved		uc002fhg.1	A6NNN8		ENST00000299709.3:c.577G>A	16.37:g.84065527C>T	ENSP00000299709:p.Val193Met						p.V193M	NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN			4	577	-			193			Helical; (Potential).			Missense_Mutation	SNP	ENST00000299709.3	37	c.577G>A	CCDS32495.1	.	.	.	.	.	.	.	.	.	.	C	16.50	3.139508	0.56936	.	.	ENSG00000166558	ENST00000299709	T	0.02498	4.27	4.92	3.97	0.46021	.	0.334050	0.28706	N	0.014420	T	0.09555	0.0235	M	0.68952	2.095	0.31577	N	0.655582	D	0.67145	0.996	P	0.61397	0.888	T	0.02385	-1.1167	10	0.46703	T	0.11	.	8.7386	0.34543	0.0:0.7522:0.1628:0.0849	.	193	A6NNN8	S38A8_HUMAN	M	193	ENSP00000299709:V193M	ENSP00000299709:V193M	V	-	1	0	SLC38A8	82623028	0.000000	0.05858	0.921000	0.36526	0.635000	0.38103	0.166000	0.16583	1.226000	0.43582	0.549000	0.68633	GTG		0.622	SLC38A8-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432623.1	NM_001080442		15	55	0	0	0	0	15	55				
OR1E2	8388	broad.mit.edu	37	17	3336564	3336564	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:3336564G>T	ENST00000248384.1	-	1	571	c.572C>A	c.(571-573)tCt>tAt	p.S191Y		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	191					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						CAGCAGAGCAGACATATCACA	0.468																																						uc010vre.1		NA																	0				large_intestine(1)	1						c.(571-573)TCT>TAT		olfactory receptor, family 1, subfamily E,							66.0	59.0	61.0					17																	3336564		2203	4300	6503	SO:0001583	missense	8388				sensory perception of smell	integral to plasma membrane	olfactory receptor activity	g.chr17:3336564G>T	U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.572C>A	17.37:g.3336564G>T	ENSP00000248384:p.Ser191Tyr						p.S191Y	NM_003554	NP_003545	P47887	OR1E2_HUMAN			1	572	-			191			Extracellular (Potential).		O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Missense_Mutation	SNP	ENST00000248384.1	37	c.572C>A	CCDS11026.1	.	.	.	.	.	.	.	.	.	.	G	11.01	1.514144	0.27123	.	.	ENSG00000127780	ENST00000248384;ENST00000454364	T	0.00123	8.7	5.34	3.26	0.37387	GPCR, rhodopsin-like superfamily (1);	0.102488	0.44285	D	0.000462	T	0.00178	0.0005	L	0.58510	1.815	0.09310	N	1	B	0.22983	0.078	B	0.27608	0.081	T	0.27226	-1.0080	10	0.52906	T	0.07	.	6.0528	0.19794	0.1581:0.0:0.6898:0.1521	.	191	P47887	OR1E2_HUMAN	Y	191;181	ENSP00000248384:S191Y	ENSP00000248384:S191Y	S	-	2	0	OR1E2	3283314	0.000000	0.05858	1.000000	0.80357	0.929000	0.56500	0.144000	0.16135	1.483000	0.48342	0.555000	0.69702	TCT		0.468	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			18	27	1	0	4.76e-15	2.6e-14	18	27				
TP53	7157	broad.mit.edu	37	17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	rs397516437|rs121912651		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:7577539G>A	ENST00000269305.4	-	7	931	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000420246.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	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	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)	ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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	R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO680N_OESOPHAGUS)|R248W(SW837_LARGE_INTESTINE)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(RD_SOFT_TISSUE)|R248W(VCAP_PROSTATE)|R248W(JIMT1_BREAST)|R248W(GCT_SOFT_TISSUE)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(786O_KIDNEY)|R248W(COLO320_LARGE_INTESTINE)|R248W(LXF289_LUNG)|R248W(LUDLU1_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(HCC2157_BREAST)	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		617	Substitution - Missense(585)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(3)|Complex - compound substitution(3)|Substitution - coding silent(2)	p.R248Q(516)|p.R248W(443)|p.R248L(63)|p.R248P(12)|p.R248G(11)|p.R248R(10)|p.0?(7)|p.N247_R248delNR(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248_P250delRRP(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)	large_intestine(156)|breast(72)|ovary(42)|endometrium(38)|oesophagus(38)|skin(37)|haematopoietic_and_lymphoid_tissue(37)|central_nervous_system(35)|stomach(27)|lung(26)|upper_aerodigestive_tract(25)|urinary_tract(19)|biliary_tract(17)|pancreas(12)|prostate(10)|soft_tissue(6)|bone(6)|thyroid(4)|liver(4)|penis(2)|peritoneum(1)|vulva(1)|kidney(1)|cervix(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM010465|CM900211	TP53	M	rs121912651	c.(742-744)CGG>TGG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							151.0	112.0	125.0					17																	7577539		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577539G>A	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.742C>T	17.37:g.7577539G>A	ENSP00000269305:p.Arg248Trp	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.R248W|TP53_uc002gih.2_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W	p.R248W	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	936	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	248		R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).	|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.|Interaction with AXIN1 (By similarity).		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.742C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	18.84	3.710019	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.62	2.56	0.30785	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	0.99843	0.9928	M	0.92507	3.315	0.58432	A	0.999997	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	D	0.97208	0.9869	9	0.87932	D	0	-9.5643	7.568	0.27890	0.0893:0.0:0.7471:0.1636	.	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	W	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248W;ENSP00000352610:R248W;ENSP00000269305:R248W;ENSP00000398846:R248W;ENSP00000391127:R248W;ENSP00000391478:R248W;ENSP00000425104:R116W;ENSP00000423862:R155W	ENSP00000269305:R248W	R	-	1	2	TP53	7518264	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	1.447000	0.35101	0.644000	0.30656	0.462000	0.41574	CGG		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		18	44	0	0	0	0	18	44				
PER1	5187	broad.mit.edu	37	17	8053316	8053316	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:8053316C>T	ENST00000317276.4	-	4	739	c.502G>A	c.(502-504)Gca>Aca	p.A168T	PER1_ENST00000354903.5_Missense_Mutation_p.A152T|PER1_ENST00000581082.1_Missense_Mutation_p.A168T	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	168					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CAGGCCAGTGCGTACTGCAGC	0.627			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																														uc002gkd.2		NA		Dom	yes		17	17p13.1-17p12	5187	T	period homolog 1 (Drosophila)			L	ETV6		AML|CMML		0				lung(2)|breast(2)|skin(2)|large_intestine(1)|ovary(1)|kidney(1)	9						c.(502-504)GCA>ACA	Other_conserved_DNA_damage_response_genes	period 1							115.0	122.0	120.0					17																	8053316		2203	4300	6503	SO:0001583	missense	5187				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	g.chr17:8053316C>T	AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.502G>A	17.37:g.8053316C>T	ENSP00000314420:p.Ala168Thr					PER1_uc010vuq.1_RNA|PER1_uc010vur.1_Missense_Mutation_p.A152T|PER1_uc010vus.1_Missense_Mutation_p.A168T	p.A168T	NM_002616	NP_002607	O15534	PER1_HUMAN			4	740	-			168					B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	c.502G>A	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.125365	0.77436	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.60171	1.41;0.21	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.73962	2.25	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.981	T	0.78114	-0.2330	10	0.66056	D	0.02	-11.7426	15.6785	0.77349	0.0:1.0:0.0:0.0	.	168;152;168	Q6IN51;B4DI49;O15534	.;.;PER1_HUMAN	T	168;152	ENSP00000314420:A168T;ENSP00000346979:A152T	ENSP00000314420:A168T	A	-	1	0	PER1	7994041	1.000000	0.71417	0.197000	0.23402	0.352000	0.29268	7.475000	0.81041	2.573000	0.86826	0.563000	0.77884	GCA		0.627	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			41	102	0	0	0	0	41	102				
TEKT3	64518	broad.mit.edu	37	17	15215733	15215733	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:15215733C>A	ENST00000395930.1	-	7	1130	c.944G>T	c.(943-945)cGg>cTg	p.R315L	TEKT3_ENST00000338696.2_Missense_Mutation_p.R315L|RNU6-799P_ENST00000363567.1_RNA	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	315					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.R315Q(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		GGAAGCTGCCCGTTCACTCTG	0.458																																						uc002gon.2		NA																	1	Substitution - Missense(1)		skin(1)	ovary(2)	2						c.(943-945)CGG>CTG		tektin 3							86.0	83.0	84.0					17																	15215733		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15215733C>A	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.944G>T	17.37:g.15215733C>A	ENSP00000379263:p.Arg315Leu						p.R315L	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	7	1131	-			315					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.944G>T	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.224032	0.79576	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000539245	T;T;T	0.02709	4.19;4.19;4.19	5.84	5.84	0.93424	.	0.050593	0.85682	D	0.000000	T	0.21550	0.0519	M	0.89287	3.02	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.00485	-1.1711	10	0.66056	D	0.02	-18.6463	20.1381	0.98040	0.0:1.0:0.0:0.0	.	315	Q9BXF9	TEKT3_HUMAN	L	315;315;149	ENSP00000379263:R315L;ENSP00000343995:R315L;ENSP00000443280:R149L	ENSP00000343995:R315L	R	-	2	0	TEKT3	15156458	0.998000	0.40836	0.319000	0.25293	0.373000	0.29922	5.731000	0.68554	2.763000	0.94921	0.650000	0.86243	CGG		0.458	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		20	57	1	0	1.34e-09	7.1e-09	20	57				
TEKT3	64518	broad.mit.edu	37	17	15234646	15234646	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:15234646T>C	ENST00000395930.1	-	3	443	c.257A>G	c.(256-258)aAc>aGc	p.N86S	TEKT3_ENST00000338696.2_Missense_Mutation_p.N86S	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	86					cilium morphogenesis (GO:0060271)|regulation of fertilization (GO:0080154)|sperm motility (GO:0030317)	acrosomal membrane (GO:0002080)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		AGTGGTTCTGTTGGAAACAAA	0.478																																						uc002gon.2		NA																	0				ovary(2)	2						c.(256-258)AAC>AGC		tektin 3							216.0	197.0	204.0					17																	15234646		2203	4300	6503	SO:0001583	missense	64518				microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		g.chr17:15234646T>C	AF334676	CCDS11169.1	17p12	2011-05-23			ENSG00000125409	ENSG00000125409			14293	protein-coding gene	gene with protein product		612683				11381029, 14735490	Standard	NM_031898		Approved	FLJ32828	uc002gon.3	Q9BXF9	OTTHUMG00000058965	ENST00000395930.1:c.257A>G	17.37:g.15234646T>C	ENSP00000379263:p.Asn86Ser						p.N86S	NM_031898	NP_114104	Q9BXF9	TEKT3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)	3	444	-			86					B2RAS7|D3DTT0|Q8N5R5|Q96M48	Missense_Mutation	SNP	ENST00000395930.1	37	c.257A>G	CCDS11169.1	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073745	0.36566	.	.	ENSG00000125409	ENST00000395930;ENST00000338696;ENST00000536146;ENST00000539316	T;T;T;T	0.32023	4.13;4.13;1.52;1.47	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.32010	0.0815	M	0.71581	2.175	0.51482	D	0.999927	B	0.02656	0.0	B	0.06405	0.002	T	0.20538	-1.0272	10	0.08837	T	0.75	-9.7863	15.2577	0.73599	0.0:0.0:0.0:1.0	.	86	Q9BXF9	TEKT3_HUMAN	S	86	ENSP00000379263:N86S;ENSP00000343995:N86S;ENSP00000446111:N86S;ENSP00000439713:N86S	ENSP00000343995:N86S	N	-	2	0	TEKT3	15175371	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	5.928000	0.70088	2.062000	0.61559	0.533000	0.62120	AAC		0.478	TEKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130385.2	NM_031898		31	67	0	0	0	0	31	67				
KRT37	8688	broad.mit.edu	37	17	39580482	39580482	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:39580482G>A	ENST00000225550.3	-	1	293	c.294C>T	c.(292-294)aaC>aaT	p.N98N	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	98	Head.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CATTCAGGGTGTTTTTGCCGT	0.582																																						uc002hwp.1		NA																	0				skin(1)	1						c.(292-294)AAC>AAT		keratin 37							93.0	78.0	83.0					17																	39580482		2203	4300	6503	SO:0001819	synonymous_variant	8688					intermediate filament	structural molecule activity	g.chr17:39580482G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.294C>T	17.37:g.39580482G>A						uc002hwo.1_RNA	p.N98N	NM_003770	NP_003761	O76014	KRT37_HUMAN			1	341	-		Breast(137;0.000496)	98			Head.			Silent	SNP	ENST00000225550.3	37	c.294C>T	CCDS32653.1																																																																																				0.582	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770		21	68	0	0	0	0	21	68				
KRT35	3886	broad.mit.edu	37	17	39635675	39635675	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:39635675A>C	ENST00000393989.1	-	3	677	c.635T>G	c.(634-636)cTg>cGg	p.L212R	KRT35_ENST00000246639.2_Missense_Mutation_p.L182R	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	212	Coil 1B.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				AGACTTGCACAGGGTCAGGTC	0.597																																						uc002hws.2		NA																	0				ovary(1)|skin(1)	2						c.(634-636)CTG>CGG		keratin 35							109.0	102.0	104.0					17																	39635675		2203	4300	6503	SO:0001583	missense	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39635675A>C	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.635T>G	17.37:g.39635675A>C	ENSP00000377558:p.Leu212Arg						p.L212R	NM_002280	NP_002271	Q92764	KRT35_HUMAN			3	678	-		Breast(137;0.000286)	212			Rod.|Coil 1B.		O76012|Q92651	Missense_Mutation	SNP	ENST00000393989.1	37	c.635T>G	CCDS11394.2	.	.	.	.	.	.	.	.	.	.	A	19.15	3.771353	0.69992	.	.	ENSG00000197079	ENST00000246639;ENST00000393989	D;D	0.92805	-3.11;-3.11	4.47	4.47	0.54385	Filament (1);	0.000000	0.39985	N	0.001219	D	0.97018	0.9026	H	0.98133	4.155	0.38463	D	0.947257	D	0.55172	0.97	P	0.61940	0.896	D	0.98427	1.0580	10	0.87932	D	0	.	10.8135	0.46562	0.8422:0.1578:0.0:0.0	.	212	Q92764	KRT35_HUMAN	R	182;212	ENSP00000246639:L182R;ENSP00000377558:L212R	ENSP00000246639:L182R	L	-	2	0	KRT35	36889201	0.155000	0.22806	1.000000	0.80357	0.995000	0.86356	4.145000	0.58065	1.988000	0.58038	0.533000	0.62120	CTG		0.597	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		18	82	0	0	0	0	18	82				
WNT3	7473	broad.mit.edu	37	17	44845801	44845801	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:44845801C>T	ENST00000225512.5	-	4	1115	c.953G>A	c.(952-954)gGc>gAc	p.G318D		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	318					anterior/posterior axis specification (GO:0009948)|axon guidance (GO:0007411)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell fate commitment (GO:0045165)|cell morphogenesis (GO:0000902)|cellular response to retinoic acid (GO:0071300)|dorsal/ventral axis specification (GO:0009950)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|gamete generation (GO:0007276)|head morphogenesis (GO:0060323)|limb bud formation (GO:0060174)|mammary gland epithelium development (GO:0061180)|mesoderm formation (GO:0001707)|negative regulation of axon extension involved in axon guidance (GO:0048843)|neuron differentiation (GO:0030182)|positive regulation of collateral sprouting in absence of injury (GO:0048697)|positive regulation of gene expression (GO:0010628)|Spemann organizer formation at the anterior end of the primitive streak (GO:0060064)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CGTGTTGTGGCCCCGGCCACA	0.592																																						uc002ikv.2		NA																	0				lung(2)	2						c.(952-954)GGC>GAC		wingless-type MMTV integration site family,							143.0	127.0	132.0					17																	44845801		2203	4300	6503	SO:0001583	missense	7473				canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity	g.chr17:44845801C>T	AY009397	CCDS11505.1	17q21-q22	2013-02-28				ENSG00000108379		"""Wingless-type MMTV integration sites"", ""Endogenous ligands"""	12782	protein-coding gene	gene with protein product	"""WNT-3 proto-oncogene protein"""	165330		INT4		8244403	Standard	NM_030753		Approved	MGC131950, MGC138321, MGC138323	uc002ikv.3	P56703		ENST00000225512.5:c.953G>A	17.37:g.44845801C>T	ENSP00000225512:p.Gly318Asp						p.G318D	NM_030753	NP_110380	P56703	WNT3_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.0257)		4	1072	-			318					Q2M237|Q9H1J9	Missense_Mutation	SNP	ENST00000225512.5	37	c.953G>A	CCDS11505.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.041444	0.93685	.	.	ENSG00000108379	ENST00000225512	T	0.79940	-1.32	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	D	0.92473	0.7610	M	0.93197	3.39	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94190	0.7440	10	0.87932	D	0	.	18.6237	0.91330	0.0:1.0:0.0:0.0	.	318	P56703	WNT3_HUMAN	D	318	ENSP00000225512:G318D	ENSP00000225512:G318D	G	-	2	0	WNT3	42200970	1.000000	0.71417	0.999000	0.59377	0.944000	0.59088	7.651000	0.83577	2.620000	0.88729	0.561000	0.74099	GGC		0.592	WNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440427.1	NM_030753		31	117	0	0	0	0	31	117				
QRICH2	84074	broad.mit.edu	37	17	74289852	74289852	+	Missense_Mutation	SNP	C	C	T	rs138229886		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr17:74289852C>T	ENST00000262765.5	-	4	637	c.458G>A	c.(457-459)cGt>cAt	p.R153H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	153										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						AGCTTCATCACGGGCCCTCGG	0.542																																						uc002jrd.1		NA																	0				ovary(1)|pancreas(1)|lung(1)|central_nervous_system(1)|skin(1)	5						c.(457-459)CGT>CAT		glutamine rich 2		C	HIS/ARG	0,4406		0,0,2203	66.0	65.0	65.0		458	-3.7	0.0	17	dbSNP_134	65	1,8599	1.2+/-3.3	0,1,4299	no	missense	QRICH2	NM_032134.1	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	153/1664	74289852	1,13005	2203	4300	6503	SO:0001583	missense	84074						protein binding	g.chr17:74289852C>T	AK058102	CCDS32741.1	17q25.1	2009-03-19			ENSG00000129646	ENSG00000129646			25326	protein-coding gene	gene with protein product							Standard	NM_032134		Approved	DKFZP434P0316	uc002jrd.1	Q9H0J4	OTTHUMG00000167578	ENST00000262765.5:c.458G>A	17.37:g.74289852C>T	ENSP00000262765:p.Arg153His					QRICH2_uc010wsz.1_Missense_Mutation_p.R79H|QRICH2_uc010dgw.1_Intron	p.R153H	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN			4	638	-			153					A2RRE1|Q96LM3	Missense_Mutation	SNP	ENST00000262765.5	37	c.458G>A	CCDS32741.1	.	.	.	.	.	.	.	.	.	.	C	5.257	0.232795	0.09969	0.0	1.16E-4	ENSG00000129646	ENST00000262765;ENST00000301613	T	0.08193	3.12	3.32	-3.66	0.04489	.	.	.	.	.	T	0.05777	0.0151	N	0.25426	0.745	0.09310	N	1	B;B	0.17465	0.022;0.022	B;B	0.14578	0.011;0.011	T	0.37407	-0.9707	9	0.45353	T	0.12	0.0875	8.9541	0.35807	0.0:0.36:0.0:0.64	.	153;153	B5MD94;Q9H0J4	.;QRIC2_HUMAN	H	153	ENSP00000262765:R153H	ENSP00000262765:R153H	R	-	2	0	QRICH2	71801447	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-1.303000	0.02743	-0.803000	0.04415	-1.008000	0.02478	CGT		0.542	QRICH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395140.1	NM_032134		14	50	0	0	0	0	14	50				
ATP8B3	148229	broad.mit.edu	37	19	1796851	1796851	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:1796851C>T	ENST00000310127.6	-	16	1850	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	ATP8B3_ENST00000539485.1_Missense_Mutation_p.A538T|ATP8B3_ENST00000525591.1_Missense_Mutation_p.A491T	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	538					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		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)		TTCCCGTCGGCGAACTTGTTC	0.721																																						uc002ltw.2		NA																	0					0						c.(1612-1614)GCC>ACC		ATPase, class I, type 8B, member 3							30.0	36.0	34.0					19																	1796851		2005	4144	6149	SO:0001583	missense	148229				ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr19:1796851C>T	AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.1612G>A	19.37:g.1796851C>T	ENSP00000311336:p.Ala538Thr					ATP8B3_uc002ltv.2_Missense_Mutation_p.A491T|ATP8B3_uc002ltx.2_RNA	p.A538T	NM_138813	NP_620168	O60423	AT8B3_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)	16	1846	-		Hepatocellular(1079;0.137)	538			Cytoplasmic (Potential).		Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	ENST00000310127.6	37	c.1612G>A	CCDS45901.1	.	.	.	.	.	.	.	.	.	.	c	18.93	3.726926	0.69074	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	T;T;T	0.63096	-0.02;-0.02;-0.02	3.5	-0.0384	0.13880	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.560734	0.17993	N	0.155160	T	0.61426	0.2346	L	0.47716	1.5	0.09310	N	0.999996	D;D	0.56746	0.977;0.96	P;P	0.51806	0.68;0.587	T	0.58053	-0.7704	10	0.62326	D	0.03	.	11.425	0.50004	0.4725:0.5275:0.0:0.0	.	538;491	O60423;Q7Z485	AT8B3_HUMAN;.	T	538;538;491	ENSP00000311336:A538T;ENSP00000443574:A538T;ENSP00000437115:A491T	ENSP00000311336:A538T	A	-	1	0	ATP8B3	1747851	0.436000	0.25586	0.000000	0.03702	0.000000	0.00434	1.300000	0.33436	-0.076000	0.12775	-1.660000	0.00751	GCC		0.721	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388279.1	NM_138813		7	20	0	0	0	0	7	20				
PRKACA	5566	broad.mit.edu	37	19	14213716	14213716	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:14213716A>G	ENST00000308677.4	-	4	444	c.248T>C	c.(247-249)cTg>cCg	p.L83P	PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000589994.1_Missense_Mutation_p.L75P|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GATCTGTTTCAGTTTCACCAC	0.562																																						uc002myc.2		NA																	0				lung(1)	1						c.(247-249)CTG>CCG		cAMP-dependent protein kinase catalytic subunit							163.0	134.0	144.0					19																	14213716		2203	4300	6503	SO:0001583	missense	5566				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|regulation of insulin secretion|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|cAMP-dependent protein kinase inhibitor activity|protein kinase binding	g.chr19:14213716A>G		CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.248T>C	19.37:g.14213716A>G	ENSP00000309591:p.Leu83Pro					PRKACA_uc002myb.2_Missense_Mutation_p.L75P|PRKACA_uc010xnm.1_Missense_Mutation_p.L25P|PRKACA_uc002myd.2_Missense_Mutation_p.L25P	p.L83P	NM_002730	NP_002721	P17612	KAPCA_HUMAN			4	448	-			83			Protein kinase.		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	ENST00000308677.4	37	c.248T>C	CCDS12304.1	.	.	.	.	.	.	.	.	.	.	A	15.52	2.858172	0.51376	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.65916	-0.18	5.64	5.64	0.86602	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.37530	N	0.002058	T	0.64638	0.2616	N	0.17474	0.49	0.80722	D	1	D;D;P;D	0.65815	0.995;0.981;0.929;0.98	D;D;D;D	0.66084	0.918;0.92;0.941;0.921	T	0.70303	-0.4909	10	0.87932	D	0	.	13.814	0.63281	1.0:0.0:0.0:0.0	.	25;66;83;75	B7Z708;Q15136;P17612;P17612-2	.;.;KAPCA_HUMAN;.	P	83;75;83;25	ENSP00000309591:L83P	ENSP00000309591:L83P	L	-	2	0	PRKACA	14074716	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	9.272000	0.95707	2.145000	0.66743	0.460000	0.39030	CTG		0.562	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459004.1	NM_002730		23	81	0	0	0	0	23	81				
CYP4F12	66002	broad.mit.edu	37	19	15806808	15806808	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:15806808C>T	ENST00000550308.1	+	10	1558	c.1178C>T	c.(1177-1179)cCc>cTc	p.P393L	CYP4F12_ENST00000324632.10_Missense_Mutation_p.P393L	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	393					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	AGGTTACATCCCCCAGCTCCC	0.597																																						uc002nbl.2		NA																	0				skin(3)|ovary(2)|central_nervous_system(2)	7						c.(1177-1179)CCC>CTC		cytochrome P450, family 4, subfamily F,							95.0	92.0	93.0					19																	15806808		2203	4300	6503	SO:0001583	missense	66002							g.chr19:15806808C>T	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.1178C>T	19.37:g.15806808C>T	ENSP00000448998:p.Pro393Leu						p.P393L	NM_023944	NP_076433					10	1239	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.1178C>T	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	17.55	3.416389	0.62511	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	D;D	0.85171	-1.95;-1.95	2.41	2.41	0.29592	.	0.270897	0.30285	U	0.009968	D	0.94149	0.8123	H	0.97635	4.045	0.49798	D	0.999824	D	0.62365	0.991	D	0.74674	0.984	D	0.94717	0.7897	10	0.87932	D	0	.	10.9311	0.47217	0.0:1.0:0.0:0.0	.	393	Q9HCS2	CP4FC_HUMAN	L	393	ENSP00000448998:P393L;ENSP00000321821:P393L	ENSP00000321821:P393L	P	+	2	0	CYP4F12	15667808	0.972000	0.33761	0.298000	0.25002	0.162000	0.22319	5.726000	0.68515	1.657000	0.50732	0.313000	0.20887	CCC		0.597	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9			27	61	0	0	0	0	27	61				
ZNF208	7757	broad.mit.edu	37	19	22156897	22156897	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:22156897G>T	ENST00000397126.4	-	4	1087	c.939C>A	c.(937-939)taC>taA	p.Y313*	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTTTACATTTGTAGGGCTTCT	0.418																																						uc002nqp.2		NA																	0				ovary(5)|skin(2)	7						c.(937-939)TAC>TAA		zinc finger protein 208							58.0	61.0	60.0					19																	22156897		2094	4244	6338	SO:0001587	stop_gained	7757							g.chr19:22156897G>T	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.939C>A	19.37:g.22156897G>T	ENSP00000380315:p.Tyr313*					ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank	p.Y313*	NM_007153	NP_009084					4	1088	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Nonsense_Mutation	SNP	ENST00000397126.4	37	c.939C>A	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	G	17.83	3.484489	0.63962	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	.	.	.	2.82	-0.929	0.10444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.5409	0.27737	0.4931:0.0:0.5069:0.0	.	.	.	.	X	313	.	ENSP00000380315:Y313X	Y	-	3	2	ZNF208	21948737	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.447000	0.06828	-0.207000	0.10187	0.313000	0.20887	TAC		0.418	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		9	48	1	0	2.18e-05	0.00010967	9	48				
SLC7A9	11136	broad.mit.edu	37	19	33334841	33334841	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:33334841C>T	ENST00000023064.4	-	10	1185	c.994G>A	c.(994-996)Ggc>Agc	p.G332S	SLC7A9_ENST00000590341.1_Missense_Mutation_p.G332S|SLC7A9_ENST00000587772.1_Missense_Mutation_p.G332S	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	332					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CCCTCCCGGCCCGCCACGTAA	0.567																																					GBM(181;1335 2108 9644 44178 46689)	uc002ntv.3		NA																	0				skin(1)	1						c.(994-996)GGC>AGC		solute carrier family 7, member 9	L-Cystine(DB00138)						58.0	53.0	55.0					19																	33334841		2203	4300	6503	SO:0001583	missense	11136				blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding	g.chr19:33334841C>T	AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.994G>A	19.37:g.33334841C>T	ENSP00000023064:p.Gly332Ser					SLC7A9_uc002ntt.3_Intron|SLC7A9_uc002ntu.3_Missense_Mutation_p.G332S|SLC7A9_uc002ntw.3_Missense_Mutation_p.G123S	p.G332S	NM_001126335	NP_001119807	P82251	BAT1_HUMAN			10	1111	-	Esophageal squamous(110;0.137)		332			Cytoplasmic (Potential).		B2R9A6	Missense_Mutation	SNP	ENST00000023064.4	37	c.994G>A	CCDS12425.1	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276164	0.59649	.	.	ENSG00000021488	ENST00000023064	D	0.88509	-2.39	5.37	4.34	0.51931	Amino acid permease domain (1);	0.096155	0.64402	D	0.000001	T	0.79621	0.4477	N	0.05467	-0.045	0.58432	D	0.999998	B;B	0.28026	0.198;0.198	B;B	0.35607	0.206;0.206	T	0.73697	-0.3901	10	0.18710	T	0.47	.	13.7754	0.63050	0.0:0.9251:0.0:0.0749	.	332;332	Q53FY4;P82251	.;BAT1_HUMAN	S	332	ENSP00000023064:G332S	ENSP00000023064:G332S	G	-	1	0	SLC7A9	38026681	0.990000	0.36364	0.836000	0.33094	0.441000	0.31987	2.913000	0.48790	1.276000	0.44395	0.655000	0.94253	GGC		0.567	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450585.1			7	28	0	0	0	0	7	28				
KIAA0355	9710	broad.mit.edu	37	19	34791871	34791871	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:34791871G>A	ENST00000299505.6	+	2	1366	c.493G>A	c.(493-495)Gag>Aag	p.E165K		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	165										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCAGGACATTGAGGTAGAGTA	0.393																																						uc002nvd.3		NA																	0				ovary(1)	1						c.(493-495)GAG>AAG		hypothetical protein LOC9710							60.0	49.0	53.0					19																	34791871		2201	4299	6500	SO:0001583	missense	9710							g.chr19:34791871G>A		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.493G>A	19.37:g.34791871G>A	ENSP00000299505:p.Glu165Lys					KIAA0355_uc010edk.1_Missense_Mutation_p.E155K	p.E165K	NM_014686	NP_055501	O15063	K0355_HUMAN			2	1352	+	Esophageal squamous(110;0.162)		165					Q2M3W4	Missense_Mutation	SNP	ENST00000299505.6	37	c.493G>A	CCDS12436.1	.	.	.	.	.	.	.	.	.	.	G	17.96	3.517200	0.64634	.	.	ENSG00000166398	ENST00000299505	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.66665	0.2812	L	0.27053	0.805	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.71391	-0.4607	9	0.87932	D	0	-33.0605	18.6821	0.91549	0.0:0.0:1.0:0.0	.	165	O15063	K0355_HUMAN	K	165	.	ENSP00000299505:E165K	E	+	1	0	KIAA0355	39483711	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.491000	0.84063	0.561000	0.74099	GAG		0.393	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451678.4	NM_014686		10	43	0	0	0	0	10	43				
HNRNPL	3191	broad.mit.edu	37	19	39334716	39334716	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:39334716C>G	ENST00000221419.5	-	5	1105	c.739G>C	c.(739-741)Gcc>Ccc	p.A247P	AC008982.2_ENST00000600473.1_RNA|HNRNPL_ENST00000600873.1_Missense_Mutation_p.A114P	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	247	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GAGGCCTTGGCCCGCTGGGCA	0.493																																						uc010xul.1		NA																	0					0						c.(739-741)GCC>CCC		heterogeneous nuclear ribonucleoprotein L							107.0	99.0	102.0					19																	39334716		2203	4300	6503	SO:0001583	missense	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39334716C>G	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.739G>C	19.37:g.39334716C>G	ENSP00000221419:p.Ala247Pro					HNRNPL_uc002ojk.2_5'Flank|HNRNPL_uc002ojl.2_5'Flank|HNRNPL_uc010xum.1_Missense_Mutation_p.A114P|HNRNPL_uc010xun.1_5'UTR	p.A247P	NM_001533	NP_001524	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		5	750	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		247			RRM 2.		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	ENST00000221419.5	37	c.739G>C	CCDS33015.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808970	0.90707	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750;ENST00000423415;ENST00000536292	.	.	.	5.71	4.67	0.58626	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.87807	0.6270	H	0.96916	3.905	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	D	0.92111	0.5696	9	0.87932	D	0	.	15.7746	0.78204	0.0:0.8633:0.1367:0.0	.	247	P14866	HNRPL_HUMAN	P	247;114;114;114;175	.	ENSP00000221419:A247P	A	-	1	0	HNRNPL	44026556	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.709000	0.84645	1.407000	0.46875	0.557000	0.71058	GCC		0.493	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			20	65	0	0	0	0	20	65				
PSG1	5669	broad.mit.edu	37	19	43382154	43382155	+	Missense_Mutation	DNP	CG	CG	AT	rs142473373|rs145766399		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:43382154_43382155CG>AT	ENST00000436291.2	-	2	456_457	c.340_341CG>AT	c.(340-342)CGg>ATg	p.R114M	PSG1_ENST00000244296.2_Missense_Mutation_p.R114M|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000403380.3_Missense_Mutation_p.R114M|PSG1_ENST00000595124.1_Missense_Mutation_p.R114M|PSG1_ENST00000595356.1_Missense_Mutation_p.R114M|PSG1_ENST00000312439.6_Missense_Mutation_p.R114M	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	114	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGCGTCCTCCCGGGTGACATTC	0.45																																						uc002ovb.2		NA																	0				ovary(2)	2						c.(340-342)CGG>ATG		pregnancy specific beta-1-glycoprotein 1																																				SO:0001583	missense	5669				female pregnancy	extracellular region		g.chr19:43382154_43382155CG>AT		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.340_341delinsAT	19.37:g.43382154_43382155delinsAT	ENSP00000413041:p.Arg114Met					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.R114M|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.R114M|PSG1_uc010eio.1_Missense_Mutation_p.R114M|PSG1_uc002oux.1_Missense_Mutation_p.R43M|PSG1_uc002ouy.1_Missense_Mutation_p.R114M|PSG1_uc002ouz.1_Missense_Mutation_p.R114M|PSG1_uc002ova.1_Missense_Mutation_p.R114M|PSG1_uc002ovc.2_Missense_Mutation_p.R114M|PSG1_uc002ovd.1_Missense_Mutation_p.R114M	p.R114M	NM_006905	NP_008836	P11464	PSG1_HUMAN			2	478_479	-		Prostate(69;0.00682)	114			Ig-like V-type.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	DNP	ENST00000436291.2	37	c.340_341CG>AT	CCDS54275.1																																																																																				0.450	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			9	397	0	0	0	0	9	397				
PRR12	57479	broad.mit.edu	37	19	50102549	50102549	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:50102549G>A	ENST00000418929.2	+	5	3711	c.3699G>A	c.(3697-3699)aaG>aaA	p.K1233K		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTGTGCCCAAGGCTGGCGAGG	0.617																																						uc002poo.3		NA																	0				central_nervous_system(1)|pancreas(1)	2						c.(3697-3699)AAG>AAA		proline rich 12							28.0	28.0	28.0					19																	50102549		1995	4177	6172	SO:0001819	synonymous_variant	57479						DNA binding	g.chr19:50102549G>A	AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3699G>A	19.37:g.50102549G>A							p.K1233K	NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)	5	3699	+		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)	412			Pro-rich.		E9PB06|Q8N4J6	Silent	SNP	ENST00000418929.2	37	c.3699G>A	CCDS46143.1																																																																																				0.617	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719		6	22	0	0	0	0	6	22				
USP29	57663	broad.mit.edu	37	19	57642405	57642405	+	Missense_Mutation	SNP	G	G	T	rs148519716		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr19:57642405G>T	ENST00000254181.4	+	4	2816	c.2362G>T	c.(2362-2364)Ggt>Tgt	p.G788C	USP29_ENST00000598197.1_Missense_Mutation_p.G788C	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	788	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TGGGGCACTGGGTTCTGACAA	0.458																																						uc002qny.2		NA																	0				lung(6)|ovary(2)|breast(2)|pancreas(1)	11						c.(2362-2364)GGT>TGT		ubiquitin specific peptidase 29							49.0	43.0	45.0					19																	57642405		2203	4300	6503	SO:0001583	missense	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57642405G>T		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.2362G>T	19.37:g.57642405G>T	ENSP00000254181:p.Gly788Cys						p.G788C	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	2718	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	788						Missense_Mutation	SNP	ENST00000254181.4	37	c.2362G>T	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935473	0.34189	.	.	ENSG00000131864	ENST00000254181	T	0.75704	-0.96	1.75	1.75	0.24633	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.	.	.	.	T	0.67097	0.2857	L	0.39245	1.2	0.28375	N	0.919802	P	0.42483	0.781	P	0.44897	0.463	T	0.61277	-0.7095	9	0.59425	D	0.04	.	6.9888	0.24743	0.0:0.0:1.0:0.0	.	788	Q9HBJ7	UBP29_HUMAN	C	788	ENSP00000254181:G788C	ENSP00000254181:G788C	G	+	1	0	USP29	62334217	1.000000	0.71417	0.227000	0.23927	0.016000	0.09150	1.295000	0.33377	1.271000	0.44313	0.467000	0.42956	GGT		0.458	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			14	31	1	0	3.27e-08	1.7e-07	14	31				
ALLC	55821	broad.mit.edu	37	2	3726069	3726069	+	Silent	SNP	G	G	A	rs561864863		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:3726069G>A	ENST00000252505.3	+	4	258	c.96G>A	c.(94-96)ccG>ccA	p.P32P		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	51					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GTGACAGCCCGTGCTTCAAAG	0.488										HNSCC(21;0.051)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		20831	0.0		0.0	False		,,,				2504	0.0					uc010ewt.2		NA																	0				central_nervous_system(1)	1						c.(94-96)CCG>CCA		allantoicase isoform a																																				SO:0001819	synonymous_variant	55821						allantoicase activity	g.chr2:3726069G>A	AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.96G>A	2.37:g.3726069G>A		HNSCC(21;0.051)					p.P32P	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)	4	257	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)	51					Q53T95|Q5RL81|Q96RE6|Q9NZA7	Silent	SNP	ENST00000252505.3	37	c.96G>A	CCDS46223.1																																																																																				0.488	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1			7	30	0	0	0	0	7	30				
PLEKHH2	130271	broad.mit.edu	37	2	43953472	43953472	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:43953472A>T	ENST00000282406.4	+	17	2713	c.2603A>T	c.(2602-2604)gAt>gTt	p.D868V		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	868	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGATCTTGTGATTCAGATGAA	0.388																																						uc010yny.1		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2602-2604)GAT>GTT		pleckstrin homology domain containing, family H							109.0	103.0	105.0					2																	43953472		2203	4300	6503	SO:0001583	missense	130271					cytoplasm|cytoskeleton|integral to membrane	binding	g.chr2:43953472A>T	AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2603A>T	2.37:g.43953472A>T	ENSP00000282406:p.Asp868Val					PLEKHH2_uc002rtf.3_Missense_Mutation_p.D867V	p.D868V	NM_172069	NP_742066	Q8IVE3	PKHH2_HUMAN			17	2686	+		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	868			PH 2.		Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	c.2603A>T	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	A	21.1	4.092756	0.76756	.	.	ENSG00000152527	ENST00000282406	T	0.77489	-1.1	5.57	5.57	0.84162	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.049073	0.85682	D	0.000000	D	0.88001	0.6320	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	0.996;1.0	D;D	0.76575	0.925;0.988	D	0.89555	0.3802	10	0.87932	D	0	-23.2912	15.7475	0.77958	1.0:0.0:0.0:0.0	.	868;305	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	V	868	ENSP00000282406:D868V	ENSP00000282406:D868V	D	+	2	0	PLEKHH2	43806976	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.084000	0.76866	2.102000	0.63906	0.528000	0.53228	GAT		0.388	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069		10	44	0	0	0	0	10	44				
GPR45	11250	broad.mit.edu	37	2	105858505	105858505	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:105858505G>T	ENST00000258456.1	+	1	306	c.190G>T	c.(190-192)Gct>Tct	p.A64S		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	64						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A64T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CCAGAGGCCGGCTATGCGCTC	0.617																																						uc002tco.1		NA																	1	Substitution - Missense(1)		urinary_tract(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(190-192)GCT>TCT		G protein-coupled receptor 45							138.0	122.0	127.0					2																	105858505		2203	4300	6503	SO:0001583	missense	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105858505G>T	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.190G>T	2.37:g.105858505G>T	ENSP00000258456:p.Ala64Ser						p.A64S	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	306	+			64			Cytoplasmic (Potential).		Q6NWS4|Q6NXU6	Missense_Mutation	SNP	ENST00000258456.1	37	c.190G>T	CCDS2066.1	.	.	.	.	.	.	.	.	.	.	G	17.79	3.476874	0.63849	.	.	ENSG00000135973	ENST00000258456	T	0.71341	-0.56	5.6	3.8	0.43715	GPCR, rhodopsin-like superfamily (1);	0.060526	0.64402	D	0.000004	T	0.73125	0.3547	L	0.53617	1.68	0.52501	D	0.999952	P	0.46621	0.881	P	0.52031	0.688	T	0.71374	-0.4612	10	0.45353	T	0.12	-26.056	11.2286	0.48899	0.0699:0.128:0.8022:0.0	.	64	Q9Y5Y3	GPR45_HUMAN	S	64	ENSP00000258456:A64S	ENSP00000258456:A64S	A	+	1	0	GPR45	105224937	1.000000	0.71417	0.844000	0.33320	0.990000	0.78478	5.793000	0.69060	0.725000	0.32318	0.462000	0.41574	GCT		0.617	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		33	104	1	0	1.56e-22	8.71e-22	33	104				
HECW2	57520	broad.mit.edu	37	2	197183717	197183717	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:197183717C>T	ENST00000260983.3	-	9	2079	c.1897G>A	c.(1897-1899)Gag>Aag	p.E633K	HECW2_ENST00000409111.1_Missense_Mutation_p.E277K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	633					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTCTCTCCCTCAGGCCTGGTG	0.592																																						uc002utm.1		NA																	0				skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1)	18						c.(1897-1899)GAG>AAG		HECT, C2 and WW domain containing E3 ubiquitin							87.0	67.0	74.0					2																	197183717		2203	4300	6503	SO:0001583	missense	57520				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity	g.chr2:197183717C>T	AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.1897G>A	2.37:g.197183717C>T	ENSP00000260983:p.Glu633Lys					HECW2_uc002utl.1_Missense_Mutation_p.E277K	p.E633K	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN			9	2080	-			633					B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	ENST00000260983.3	37	c.1897G>A	CCDS33354.1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457332	0.43634	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.35048	1.33;1.39	5.1	5.1	0.69264	.	0.422864	0.26153	N	0.026030	T	0.21962	0.0529	N	0.19112	0.55	0.35818	D	0.824367	P	0.38767	0.646	B	0.34093	0.175	T	0.12426	-1.0548	10	0.08599	T	0.76	.	17.2226	0.86961	0.0:1.0:0.0:0.0	.	633	Q9P2P5	HECW2_HUMAN	K	277;633	ENSP00000386775:E277K;ENSP00000260983:E633K	ENSP00000260983:E633K	E	-	1	0	HECW2	196891962	0.996000	0.38824	0.959000	0.39883	0.905000	0.53344	3.648000	0.54410	2.813000	0.96785	0.561000	0.74099	GAG		0.592	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335199.3	NM_020760		13	31	0	0	0	0	13	31				
CASP8	841	broad.mit.edu	37	2	202150039	202150039	+	Splice_Site	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:202150039C>T	ENST00000432109.2	+	9	1492	c.1303C>T	c.(1303-1305)Cga>Tga	p.R435*	CASP8_ENST00000323492.7_Splice_Site_p.R420*|CASP8_ENST00000358485.4_Splice_Site_p.R494*|CASP8_ENST00000264274.9_Splice_Site_p.R351*|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000264275.5_Splice_Site_p.R452*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	435					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)	p.R452*(2)|p.R494*(1)		breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCGATGTCCTCGGTAAGTTTT	0.502										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	3	Substitution - Nonsense(3)		endometrium(3)	upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(1303-1305)CGA>TGA		caspase 8 isoform B precursor							86.0	77.0	80.0					2																	202150039		2203	4300	6503	SO:0001630	splice_region_variant	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202150039C>T	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.1304+1C>T	2.37:g.202150039C>T		HNSCC(4;0.00038)				CASP8_uc002uxp.1_Nonsense_Mutation_p.R452*|CASP8_uc002uxq.1_Nonsense_Mutation_p.R420*|CASP8_uc002uxt.1_Nonsense_Mutation_p.R494*|CASP8_uc002uxu.1_RNA|CASP8_uc002uxw.1_Nonsense_Mutation_p.R420*|CASP8_uc002uxy.1_Intron|CASP8_uc002uxx.1_Intron|CASP8_uc010ftf.2_Nonsense_Mutation_p.R351*	p.R435*	NM_033355	NP_203519	Q14790	CASP8_HUMAN			9	1512	+			435					O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	ENST00000432109.2	37	c.1303C>T	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	C	34	5.402692	0.96030	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.37	3.47	0.39725	.	0.583046	0.18288	N	0.145809	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.6272	0.28218	0.5048:0.4125:0.0:0.0826	.	.	.	.	X	420;351;435;452;494;420;214	.	ENSP00000264274:R351X	R	+	1	2	CASP8	201858284	0.102000	0.21896	0.991000	0.47740	0.792000	0.44763	0.396000	0.20867	0.538000	0.28769	0.561000	0.74099	CGA		0.502	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228	Nonsense_Mutation	15	54	0	0	0	0	15	54				
ZDBF2	57683	broad.mit.edu	37	2	207169470	207169470	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:207169470C>A	ENST00000374423.3	+	5	604	c.218C>A	c.(217-219)aCt>aAt	p.T73N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	73							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CATGTGAATACTGGGTCATCG	0.383																																						uc002vbp.2		NA																	0				ovary(3)	3						c.(217-219)ACT>AAT		zinc finger, DBF-type containing 2							76.0	74.0	75.0					2																	207169470		1946	4139	6085	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207169470C>A	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.218C>A	2.37:g.207169470C>A	ENSP00000363545:p.Thr73Asn						p.T73N	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			5	468	+			73					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.218C>A	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.321620	0.23994	.	.	ENSG00000204186	ENST00000374423	T	0.17370	2.28	4.95	2.02	0.26589	.	1.418330	0.05122	N	0.490868	T	0.18130	0.0435	L	0.47716	1.5	0.09310	N	1	D	0.56968	0.978	P	0.45913	0.497	T	0.18209	-1.0344	10	0.33141	T	0.24	.	3.9405	0.09325	0.1255:0.574:0.1363:0.1642	.	73	Q9HCK1	ZDBF2_HUMAN	N	73	ENSP00000363545:T73N	ENSP00000363545:T73N	T	+	2	0	ZDBF2	206877715	0.000000	0.05858	0.016000	0.15963	0.039000	0.13416	-0.059000	0.11731	1.081000	0.41110	0.650000	0.86243	ACT		0.383	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923		22	39	1	0	2.22e-12	1.19e-11	22	39				
OBSL1	23363	broad.mit.edu	37	2	220419305	220419305	+	Silent	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:220419305C>T	ENST00000404537.1	-	15	4823	c.4767G>A	c.(4765-4767)tcG>tcA	p.S1589S	OBSL1_ENST00000373876.1_Silent_p.S1497S|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1589					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGTGGCCGTCCGAGTGGATGT	0.642																																						uc010fwk.2		NA																	0					0						c.(4765-4767)TCG>TCA		obscurin-like 1							33.0	42.0	39.0					2																	220419305		2102	4213	6315	SO:0001819	synonymous_variant	23363				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity	g.chr2:220419305C>T	BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4767G>A	2.37:g.220419305C>T							p.S1589S	NM_015311	NP_056126	O75147	OBSL1_HUMAN		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)	15	4824	-		Renal(207;0.0376)	1589					A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	ENST00000404537.1	37	c.4767G>A	CCDS46520.1																																																																																				0.642	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322012.1			7	20	0	0	0	0	7	20				
THAP4	51078	broad.mit.edu	37	2	242573331	242573331	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:242573331C>T	ENST00000407315.1	-	2	672	c.241G>A	c.(241-243)Gtg>Atg	p.V81M		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	81							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		ATGGATGGCACGGCCGTGGGC	0.587																																						uc002wbt.2		NA																	0					0						c.(241-243)GTG>ATG		THAP domain containing 4 isoform 1							93.0	101.0	98.0					2																	242573331		2203	4296	6499	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242573331C>T	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.241G>A	2.37:g.242573331C>T	ENSP00000385006:p.Val81Met						p.V81M	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	464	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	81			THAP-type.		Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.241G>A	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.968089	0.74131	.	.	ENSG00000176946	ENST00000407315	D	0.97404	-4.37	4.8	4.8	0.61643	Zinc finger, C2CH-type (4);	0.548953	0.16787	N	0.199537	D	0.98698	0.9563	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.99851	1.1071	10	0.87932	D	0	-30.7307	16.4274	0.83818	0.0:1.0:0.0:0.0	.	81	Q8WY91	THAP4_HUMAN	M	81	ENSP00000385006:V81M	ENSP00000385006:V81M	V	-	1	0	THAP4	242222004	0.996000	0.38824	0.921000	0.36526	0.806000	0.45545	4.456000	0.60081	2.369000	0.80426	0.655000	0.94253	GTG		0.587	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		36	123	0	0	0	0	36	123				
SLC4A11	83959	broad.mit.edu	37	20	3208447	3208447	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr20:3208447C>T	ENST00000380056.3	-	19	2709	c.2662G>A	c.(2662-2664)Gag>Aag	p.E888K	SLC4A11_ENST00000539553.2_Missense_Mutation_p.E872K|SLC4A11_ENST00000488544.1_5'Flank|SLC4A11_ENST00000380059.3_Missense_Mutation_p.E915K	NM_032034.3	NP_114423.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	888	Membrane (bicarbonate transporter).				bicarbonate transport (GO:0015701)|borate transmembrane transport (GO:0035445)|borate transport (GO:0046713)|cellular cation homeostasis (GO:0030003)|fluid transport (GO:0042044)|proton transport (GO:0015992)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	bicarbonate transmembrane transporter activity (GO:0015106)|borate transmembrane transporter activity (GO:0046715)|hydrogen ion channel activity (GO:0015252)|inorganic anion exchanger activity (GO:0005452)|protein dimerization activity (GO:0046983)|sodium channel activity (GO:0005272)|symporter activity (GO:0015293)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGCCTGTGCTCAGCGTCCATG	0.612																																					NSCLC(190;922 2139 10266 10292 38692)	uc002wig.2		NA																	0				ovary(1)	1						c.(2662-2664)GAG>AAG		solute carrier family 4 member 11							148.0	111.0	124.0					20																	3208447		2202	4300	6502	SO:0001583	missense	83959				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity	g.chr20:3208447C>T	AF336127	CCDS13052.1, CCDS54445.1, CCDS54446.1	20p13	2014-02-14	2007-08-03		ENSG00000088836	ENSG00000088836		"""Solute carriers"""	16438	protein-coding gene	gene with protein product		610206	"""corneal endothelial dystrophy 2 (autosomal recessive)"", ""solute carrier family 4, sodium bicarbonate transporter-like, member 11"", ""corneal dystrophy and perceptive deafness 1"""	CHED2, CDPD1		10843999, 11302728, 16767101	Standard	NM_001174089		Approved	dJ794I6.2, BTR1, NaBC1, FECD4	uc010zqe.2	Q8NBS3	OTTHUMG00000031740	ENST00000380056.3:c.2662G>A	20.37:g.3208447C>T	ENSP00000369396:p.Glu888Lys					SLC4A11_uc010zqe.1_Missense_Mutation_p.E915K|SLC4A11_uc002wih.2_RNA|SLC4A11_uc010zqf.1_Missense_Mutation_p.E872K	p.E888K	NM_032034	NP_114423	Q8NBS3	S4A11_HUMAN			19	2710	-			888			Membrane (bicarbonate transporter).		B4DKC8|B4DKX9|G3V1M3|Q2TB62|Q2TB63|Q9BXF4|Q9NTW9	Missense_Mutation	SNP	ENST00000380056.3	37	c.2662G>A	CCDS13052.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.536904	0.85812	.	.	ENSG00000088836	ENST00000380059;ENST00000380056;ENST00000539553	D;D;D	0.81996	-1.56;-1.56;-1.55	5.78	4.8	0.61643	.	0.172095	0.50627	D	0.000107	D	0.85252	0.5654	M	0.71581	2.175	0.53688	D	0.999978	P;P;P	0.51449	0.945;0.847;0.908	P;B;B	0.47430	0.547;0.342;0.437	D	0.85954	0.1466	10	0.45353	T	0.12	.	16.882	0.86065	0.0:0.8722:0.1278:0.0	.	872;915;888	G3V1M3;B4DKC8;Q8NBS3	.;.;S4A11_HUMAN	K	915;888;872	ENSP00000369399:E915K;ENSP00000369396:E888K;ENSP00000441370:E872K	ENSP00000369396:E888K	E	-	1	0	SLC4A11	3156447	1.000000	0.71417	0.990000	0.47175	0.916000	0.54674	6.041000	0.70988	2.731000	0.93534	0.650000	0.86243	GAG		0.612	SLC4A11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077728.1			11	38	0	0	0	0	11	38				
MYH9	4627	broad.mit.edu	37	22	36688143	36688144	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr22:36688143_36688144CA>AG	ENST00000216181.5	-	31	4462_4463	c.4232_4233TG>CT	c.(4231-4233)cTG>cCT	p.L1411P		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1411					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGTCTTCTCCAGCTTGTCGTA	0.634			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																													uc003apg.2		NA		Dom	yes		22	22q13.1	4627	T	"""myosin, heavy polypeptide 9, non-muscle"""	yes	Deafness|autosomal dominant 17|Epstein syndrome|Fechtner syndrome|May-Hegglin anomaly|Sebastian syndrome	L	ALK		ALCL		0				breast(3)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|lung(1)|skin(1)|kidney(1)|pancreas(1)	11						c.(4231-4233)CTG>CCT		myosin, heavy polypeptide 9, non-muscle																																				SO:0001583	missense	4627	Hereditary_Macrothrombocytopenia_MYH9-associated	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA	actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity	g.chr22:36688143_36688144CA>AG		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.4232_4233delinsAG	22.37:g.36688143_36688144delinsAG	ENSP00000216181:p.Leu1411Pro						p.L1411P	NM_002473	NP_002464	P35579	MYH9_HUMAN			31	4463_4464	-			1411			Potential.		A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	DNP	ENST00000216181.5	37	c.4232_4233TG>CT	CCDS13927.1																																																																																				0.634	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000259110.3	NM_002473		9	75	0	0	0	0	9	75				
CACNG2	10369	broad.mit.edu	37	22	37098538	37098538	+	Silent	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr22:37098538C>A	ENST00000300105.6	-	1	1065	c.84G>T	c.(82-84)gtG>gtT	p.V28V	RP1-293L6.1_ENST00000430281.1_RNA	NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	28					membrane depolarization (GO:0051899)|membrane hyperpolarization (GO:0060081)|neuromuscular junction development (GO:0007528)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						AGTCGGTTCCCACAGCTATGG	0.453																																						uc003aps.1		NA																	0					0						c.(82-84)GTG>GTT		voltage-dependent calcium channel gamma-2							214.0	192.0	199.0					22																	37098538		2203	4300	6503	SO:0001819	synonymous_variant	10369				membrane depolarization|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|endocytic vesicle membrane|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chr22:37098538C>A	AF096322	CCDS13931.1	22q13.1	2006-08-01			ENSG00000166862	ENSG00000166862		"""Calcium channel subunits"""	1406	protein-coding gene	gene with protein product		602911					Standard	NM_006078		Approved	stargazin, MGC138502, MGC138504	uc003aps.2	Q9Y698	OTTHUMG00000030612	ENST00000300105.6:c.84G>T	22.37:g.37098538C>A						uc003apt.1_5'Flank	p.V28V	NM_006078	NP_006069	Q9Y698	CCG2_HUMAN			1	366	-			28			Helical; (Potential).		Q2M1M1|Q5TGT3|Q9UGZ7	Silent	SNP	ENST00000300105.6	37	c.84G>T	CCDS13931.1																																																																																				0.453	CACNG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075500.2			43	146	1	0	1.22e-19	6.72e-19	43	146				
MEI1	150365	broad.mit.edu	37	22	42189908	42189908	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr22:42189908G>C	ENST00000401548.3	+	27	3461	c.3421G>C	c.(3421-3423)Gac>Cac	p.D1141H	MEI1_ENST00000300398.4_Missense_Mutation_p.D149H|MEI1_ENST00000476893.1_3'UTR|MEI1_ENST00000400107.1_Missense_Mutation_p.D474H	NM_152513.3	NP_689726.3			meiosis inhibitor 1											breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CCGGAGCCCAGACATTGGTAG	0.502																																						uc003baz.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(3421-3423)GAC>CAC		meiosis defective 1							44.0	46.0	45.0					22																	42189908		1919	4124	6043	SO:0001583	missense	150365						binding	g.chr22:42189908G>C	AK092934	CCDS46718.1	22q13.2	2013-10-11			ENSG00000167077	ENSG00000167077			28613	protein-coding gene	gene with protein product	"""spermatogenesis associated 38"""	608797				16683055	Standard	XM_006724154		Approved	MGC40042, SPATA38	uc003baz.1	Q5TIA1	OTTHUMG00000030083	ENST00000401548.3:c.3421G>C	22.37:g.42189908G>C	ENSP00000384115:p.Asp1141His					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|MEI1_uc011apd.1_RNA|MEI1_uc003bbb.1_Missense_Mutation_p.D527H|MEI1_uc003bbc.1_Missense_Mutation_p.D509H|MEI1_uc010gym.1_Missense_Mutation_p.D474H|MEI1_uc003bbd.1_Missense_Mutation_p.D384H|MEI1_uc010gyn.1_RNA|MEI1_uc003bbe.1_RNA|MEI1_uc011apf.1_Missense_Mutation_p.D155H|MEI1_uc010gyo.1_3'UTR|MEI1_uc003bbf.2_Missense_Mutation_p.D155H|MEI1_uc003bbg.2_Missense_Mutation_p.D155H	p.D1141H	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN			27	3446	+			1141						Missense_Mutation	SNP	ENST00000401548.3	37	c.3421G>C	CCDS46718.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.267211	0.80469	.	.	ENSG00000167077	ENST00000401548;ENST00000400107;ENST00000300398;ENST00000419798;ENST00000403492	T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4	5.66	5.66	0.87406	.	0.257197	0.39909	N	0.001226	T	0.79644	0.4481	M	0.61703	1.905	0.54753	D	0.999989	D;D;D;D;D;D	0.89917	0.999;1.0;0.998;0.998;0.999;0.98	D;D;D;D;D;P	0.71870	0.923;0.95;0.964;0.964;0.975;0.835	T	0.80812	-0.1215	10	0.72032	D	0.01	-17.9485	16.459	0.84030	0.0:0.0:1.0:0.0	.	155;474;251;384;509;1141	B7Z735;Q5TIA1-3;E9PB79;Q5TIA1-5;Q5TIA1-2;Q5TIA1	.;.;.;.;.;MEI1_HUMAN	H	1141;474;149;251;149	ENSP00000384115:D1141H;ENSP00000382978:D474H;ENSP00000300398:D149H;ENSP00000385298:D149H	ENSP00000300398:D149H	D	+	1	0	MEI1	40519854	1.000000	0.71417	0.995000	0.50966	0.585000	0.36419	2.722000	0.47269	2.665000	0.90641	0.561000	0.74099	GAC		0.502	MEI1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000074937.3	NM_152513		5	13	0	0	0	0	5	13				
FLNB	2317	broad.mit.edu	37	3	58120482	58120482	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr3:58120482C>G	ENST00000295956.4	+	27	4819	c.4654C>G	c.(4654-4656)Ctt>Gtt	p.L1552V	FLNB_ENST00000429972.2_Missense_Mutation_p.L1552V|FLNB_ENST00000357272.4_Missense_Mutation_p.L1552V|FLNB_ENST00000348383.5_Missense_Mutation_p.L1552V|FLNB_ENST00000490882.1_Missense_Mutation_p.L1583V|FLNB_ENST00000493452.1_Missense_Mutation_p.L1383V|FLNB_ENST00000358537.3_Missense_Mutation_p.L1552V|FLNB_ENST00000419752.2_Missense_Mutation_p.L1383V	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	1552					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGAAGGCCTGCTTGCTGTTCA	0.473																																						uc003djj.2		NA																	0				breast(8)|ovary(5)|lung(3)|skin(2)|central_nervous_system(1)	19						c.(4654-4656)CTT>GTT		filamin B isoform 2							145.0	144.0	144.0					3																	58120482		2203	4300	6503	SO:0001583	missense	2317				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	g.chr3:58120482C>G	AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.4654C>G	3.37:g.58120482C>G	ENSP00000295956:p.Leu1552Val					FLNB_uc010hne.2_Missense_Mutation_p.L1583V|FLNB_uc003djk.2_Missense_Mutation_p.L1552V|FLNB_uc010hnf.2_Missense_Mutation_p.L1552V|FLNB_uc003djl.2_Missense_Mutation_p.L1383V|FLNB_uc003djm.2_Missense_Mutation_p.L1383V	p.L1552V	NM_001457	NP_001448	O75369	FLNB_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)	27	4819	+			1552			Filamin 14.		B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	ENST00000295956.4	37	c.4654C>G	CCDS2885.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.994642	0.74703	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	D;D;D;D;D;D;D;D	0.93366	-3.21;-3.21;-3.07;-3.21;-3.21;-3.21;-3.07;-3.21	5.68	5.68	0.88126	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.95774	0.8625	L	0.52266	1.64	0.80722	D	1	D;D;D;P;D;D	0.89917	0.999;1.0;0.984;0.748;0.999;0.999	D;D;D;P;D;D	0.91635	0.999;0.999;0.995;0.556;0.998;0.998	D	0.95137	0.8260	10	0.46703	T	0.11	.	19.7958	0.96481	0.0:1.0:0.0:0.0	.	1552;1583;1383;1383;1552;1552	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	V	1552;1583;1552;1552;1552;1552;1383;1383	ENSP00000295956:L1552V;ENSP00000420213:L1583V;ENSP00000351339:L1552V;ENSP00000415599:L1552V;ENSP00000232447:L1552V;ENSP00000349819:L1552V;ENSP00000418510:L1383V;ENSP00000414532:L1383V	ENSP00000295956:L1552V	L	+	1	0	FLNB	58095522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.720000	0.61944	2.669000	0.90835	0.563000	0.77884	CTT		0.473	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353569.1	NM_001457		43	132	0	0	0	0	43	132				
KIAA2018	205717	broad.mit.edu	37	3	113377777	113377777	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr3:113377777G>A	ENST00000478658.1	-	5	2769	c.2752C>T	c.(2752-2754)Caa>Taa	p.Q918*	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Nonsense_Mutation_p.Q918*			Q68DE3	K2018_HUMAN	KIAA2018	918						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GATGTCTCTTGTTGTAGATTA	0.448																																						uc003eam.2		NA																	0				skin(2)|ovary(1)	3						c.(2752-2754)CAA>TAA		hypothetical protein LOC205717							210.0	190.0	196.0					3																	113377777		1876	4112	5988	SO:0001587	stop_gained	205717				regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr3:113377777G>A	AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.2752C>T	3.37:g.113377777G>A	ENSP00000420721:p.Gln918*					KIAA2018_uc003eal.2_Nonsense_Mutation_p.Q862*	p.Q918*	NM_001009899	NP_001009899	Q68DE3	K2018_HUMAN			7	3163	-			918					Q7Z3L9|Q8IVF3|Q9H8T4	Nonsense_Mutation	SNP	ENST00000478658.1	37	c.2752C>T	CCDS43133.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037723	0.75617	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	.	.	.	4.86	3.76	0.43208	.	2.381480	0.01296	N	0.010168	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	0.4798	5.8777	0.18838	0.0911:0.1458:0.6308:0.1323	.	.	.	.	X	918	.	ENSP00000320794:Q918X	Q	-	1	0	KIAA2018	114860467	0.728000	0.28080	0.359000	0.25824	0.339000	0.28857	1.041000	0.30291	2.232000	0.73038	0.555000	0.69702	CAA		0.448	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354591.1	NM_001009899		33	98	0	0	0	0	33	98				
EIF2B5	8893	broad.mit.edu	37	3	183858377	183858377	+	Silent	SNP	C	C	A	rs113994068		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr3:183858377C>A	ENST00000273783.3	+	7	1137	c.1015C>A	c.(1015-1017)Cgg>Agg	p.R339R	EIF2B5_ENST00000444495.1_Silent_p.R339R	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	339			R -> P (in VWM). {ECO:0000269|PubMed:11704758, ECO:0000269|PubMed:19158808}.|R -> Q (in VWM). {ECO:0000269|PubMed:11704758}.|R -> W (in VWM). {ECO:0000269|PubMed:11704758}.		astrocyte development (GO:0014002)|astrocyte differentiation (GO:0048708)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|gene expression (GO:0010467)|myelination (GO:0042552)|negative regulation of translational initiation in response to stress (GO:0032057)|oligodendrocyte development (GO:0014003)|ovarian follicle development (GO:0001541)|positive regulation of GTPase activity (GO:0043547)|positive regulation of translational initiation (GO:0045948)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to heat (GO:0009408)|response to peptide hormone (GO:0043434)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2B complex (GO:0005851)|nucleus (GO:0005634)	guanyl-nucleotide exchange factor activity (GO:0005085)|translation initiation factor activity (GO:0003743)|translation initiation factor binding (GO:0031369)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CACTCATTCCCGGCACAACAT	0.587																																						uc003fmp.2		NA																	0				ovary(5)	5	GRCh37	CM013540	EIF2B5	M	rs113994068	c.(1015-1017)CGG>AGG		eukaryotic translation initiation factor 2B,							153.0	139.0	143.0					3																	183858377		2203	4300	6503	SO:0001819	synonymous_variant	8893				astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding	g.chr3:183858377C>A	U23028	CCDS3252.1	3q27.3	2006-07-18	2002-08-29		ENSG00000145191	ENSG00000145191			3261	protein-coding gene	gene with protein product		603945	"""eukaryotic translation initiation factor 2B, subunit 5 (epsilon, 82kD)"""			8688466	Standard	NM_003907		Approved	EIF2Bepsilon, EIF-2B	uc003fmp.3	Q13144	OTTHUMG00000156840	ENST00000273783.3:c.1015C>A	3.37:g.183858377C>A						EIF2B5_uc003fmq.2_Silent_p.R60R|EIF2B5_uc003fmr.2_5'Flank	p.R339R	NM_003907	NP_003898	Q13144	EI2BE_HUMAN	Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)		7	1379	+	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		339		R -> Q (in VWM).|R -> W (in VWM).|R -> P (in VWM).			Q541Z1|Q96D04	Silent	SNP	ENST00000273783.3	37	c.1015C>A	CCDS3252.1																																																																																				0.587	EIF2B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346168.1			5	112	1	0	0.00116845	0.00555216	5	112				
UGT2B10	7365	broad.mit.edu	37	4	69682402	69682402	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr4:69682402G>C	ENST00000265403.7	+	1	692	c.665G>C	c.(664-666)tGg>tCg	p.W222S	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	222					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTTGACTTTTGGTTCCAAATA	0.313																																					Melanoma(133;755 1763 25578 26334 46021)	uc003hee.2		NA																	0				skin(3)|ovary(2)	5						c.(664-666)TGG>TCG		UDP glucuronosyltransferase 2B10 isoform 1							46.0	48.0	48.0					4																	69682402		2200	4291	6491	SO:0001583	missense	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69682402G>C	X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.665G>C	4.37:g.69682402G>C	ENSP00000265403:p.Trp222Ser					UGT2B10_uc011cam.1_Intron	p.W222S	NM_001075	NP_001066	P36537	UDB10_HUMAN			1	690	+			222					A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	ENST00000265403.7	37	c.665G>C		.	.	.	.	.	.	.	.	.	.	g	1.566	-0.535478	0.04082	.	.	ENSG00000109181	ENST00000265403	T	0.60171	0.21	2.63	-0.243	0.13035	.	0.558551	0.14936	U	0.289783	T	0.59500	0.2198	M	0.80746	2.51	0.09310	N	0.999998	P	0.37525	0.598	P	0.45794	0.493	T	0.55392	-0.8148	10	0.52906	T	0.07	.	2.8163	0.05457	0.3749:0.0:0.4238:0.2013	.	222	P36537	UDB10_HUMAN	S	222	ENSP00000265403:W222S	ENSP00000265403:W222S	W	+	2	0	UGT2B10	69716991	0.000000	0.05858	0.015000	0.15790	0.015000	0.08874	-0.391000	0.07323	-0.438000	0.07232	0.184000	0.17185	TGG		0.313	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000365169.1	NM_001075		17	65	0	0	0	0	17	65				
FBXO8	26269	broad.mit.edu	37	4	175158632	175158632	+	Missense_Mutation	SNP	T	T	A	rs148818503	byFrequency	TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr4:175158632T>A	ENST00000393674.2	-	6	1753	c.891A>T	c.(889-891)caA>caT	p.Q297H	FBXO8_ENST00000503293.1_Missense_Mutation_p.Q256H	NM_012180.2	NP_036312.2	Q9NRD0	FBX8_HUMAN	F-box protein 8	297					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|ubiquitin-dependent protein catabolic process (GO:0006511)	cell junction (GO:0030054)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		CACTAATATTTTGAGCAGCGC	0.378																																						uc003itp.2		NA																	0				breast(2)	2						c.(889-891)CAA>CAT		F-box only protein 8							93.0	94.0	94.0					4																	175158632		2203	4300	6503	SO:0001583	missense	26269				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity	g.chr4:175158632T>A	AF174596	CCDS3820.1	4q34.1	2008-02-05	2004-06-15			ENSG00000164117		"""F-boxes /  ""other"""""	13587	protein-coding gene	gene with protein product		605649	"""F-box only protein 8"""			10531035, 10531037	Standard	NM_012180		Approved	FBX8, FBS	uc003itp.3	Q9NRD0		ENST00000393674.2:c.891A>T	4.37:g.175158632T>A	ENSP00000377280:p.Gln297His					FBXO8_uc003itq.2_Missense_Mutation_p.Q256H	p.Q297H	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)	6	1741	-		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)	297					B2RB40|D3DP41|G5E9Z0|Q6UWN4|Q8IWE1|Q9NRP5|Q9UKC4	Missense_Mutation	SNP	ENST00000393674.2	37	c.891A>T	CCDS3820.1	.	.	.	.	.	.	.	.	.	.	T	11.84	1.757556	0.31137	.	.	ENSG00000164117	ENST00000393674;ENST00000503293;ENST00000296517	T;T	0.55930	0.49;0.49	5.52	-2.73	0.05950	SEC7-like, alpha orthogonal bundle (1);SEC7-like (4);	0.061069	0.64402	D	0.000002	T	0.43853	0.1266	L	0.52573	1.65	0.47778	D	0.999519	B;B	0.06786	0.001;0.001	B;B	0.09377	0.003;0.004	T	0.39231	-0.9624	10	0.62326	D	0.03	.	14.602	0.68447	0.0:0.7876:0.0:0.2124	.	256;297	G5E9Z0;Q9NRD0	.;FBX8_HUMAN	H	297;256;210	ENSP00000377280:Q297H;ENSP00000422905:Q256H	ENSP00000296517:Q210H	Q	-	3	2	FBXO8	175395207	0.996000	0.38824	0.990000	0.47175	0.991000	0.79684	0.312000	0.19397	-0.408000	0.07565	-0.274000	0.10170	CAA		0.378	FBXO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362085.2	NM_012180		19	58	0	0	0	0	19	58				
IRF2	3660	broad.mit.edu	37	4	185339790	185339790	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr4:185339790G>A	ENST00000393593.3	-	4	467	c.260C>T	c.(259-261)tCc>tTc	p.S87F	IRF2_ENST00000512020.1_5'UTR	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	87					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		ATCAGGCAAGGAATTCATGGC	0.408																																						uc003iwf.3		NA																	0				ovary(1)	1						c.(259-261)TCC>TTC		interferon regulatory factor 2							115.0	111.0	112.0					4																	185339790		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185339790G>A		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.260C>T	4.37:g.185339790G>A	ENSP00000377218:p.Ser87Phe						p.S87F	NM_002199	NP_002190	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	4	460	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	87			IRF tryptophan pentad repeat.		D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.260C>T	CCDS3835.1	.	.	.	.	.	.	.	.	.	.	G	17.98	3.520060	0.64747	.	.	ENSG00000168310	ENST00000393593;ENST00000507523;ENST00000510814;ENST00000506230;ENST00000505316	D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73	4.82	3.98	0.46160	Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.222453	0.47455	D	0.000239	D	0.98676	0.9556	M	0.86864	2.845	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	D	0.99628	1.0985	10	0.87932	D	0	-5.4539	13.4995	0.61445	0.0759:0.0:0.9241:0.0	.	87	P14316	IRF2_HUMAN	F	87	ENSP00000377218:S87F;ENSP00000427204:S87F;ENSP00000424552:S87F;ENSP00000422860:S87F	ENSP00000377218:S87F	S	-	2	0	IRF2	185576784	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	6.012000	0.70767	1.385000	0.46445	-0.258000	0.10820	TCC		0.408	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			8	36	0	0	0	0	8	36				
CDH12	1010	broad.mit.edu	37	5	21817158	21817158	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:21817158G>T	ENST00000382254.1	-	9	1984	c.898C>A	c.(898-900)Caa>Aaa	p.Q300K	CDH12_ENST00000504376.2_Missense_Mutation_p.Q300K|CDH12_ENST00000522262.1_Missense_Mutation_p.Q260K|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	300	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTGCATTTTGTCCAAAATCA	0.388										HNSCC(59;0.17)																												uc010iuc.2		NA																	0				ovary(2)	2						c.(898-900)CAA>AAA		cadherin 12, type 2 preproprotein							117.0	114.0	115.0					5																	21817158		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21817158G>T	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.898C>A	5.37:g.21817158G>T	ENSP00000371689:p.Gln300Lys	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.Q260K|CDH12_uc003jgk.2_Missense_Mutation_p.Q300K	p.Q300K	NM_004061	NP_004052	P55289	CAD12_HUMAN			6	1356	-			300			Extracellular (Potential).|Cadherin 3.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.898C>A	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	G	11.82	1.752210	0.31046	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.52057	0.68;0.68;0.68	4.97	2.91	0.33838	Cadherin (4);Cadherin-like (1);	0.303613	0.40222	N	0.001155	T	0.24470	0.0593	N	0.04373	-0.215	0.24268	N	0.995253	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.14254	-1.0479	10	0.27082	T	0.32	.	12.2089	0.54369	0.0:0.0:0.2628:0.7372	.	260;300	B7Z2U6;P55289	.;CAD12_HUMAN	K	300;300;260	ENSP00000423577:Q300K;ENSP00000371689:Q300K;ENSP00000428786:Q260K	ENSP00000371689:Q300K	Q	-	1	0	CDH12	21852915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.273000	0.43381	0.477000	0.27464	0.585000	0.79938	CAA		0.388	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061		14	87	1	0	3.27e-08	1.7e-07	14	87				
TTC23L	153657	broad.mit.edu	37	5	34864544	34864544	+	Missense_Mutation	SNP	G	G	A	rs373241802	byFrequency	TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:34864544G>A	ENST00000505624.1	+	6	642	c.539G>A	c.(538-540)gGc>gAc	p.G180D	TTC23L_ENST00000514080.1_3'UTR	NM_144725.3	NP_653326.3	Q6PF05	TT23L_HUMAN	tetratricopeptide repeat domain 23-like	180										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(9)|prostate(2)|stomach(1)|urinary_tract(1)	22						TATTTCACTGGCAGAGAAGCC	0.423													G|||	7	0.00139776	0.0045	0.0014	5008	,	,		18399	0.0		0.0	False		,,,				2504	0.0					uc003jiu.2		NA																	0				central_nervous_system(1)	1						c.(538-540)GGC>GAC		tetratricopeptide repeat domain 23-like		G	ASP/GLY	4,3742		0,4,1869	87.0	85.0	85.0		539	5.6	1.0	5		85	0,8224		0,0,4112	no	missense	TTC23L	NM_144725.3	94	0,4,5981	AA,AG,GG		0.0,0.1068,0.0334	benign	180/362	34864544	4,11966	1873	4112	5985	SO:0001583	missense	153657						binding	g.chr5:34864544G>A		CCDS54840.1	5p13.2	2008-07-14			ENSG00000205838	ENSG00000205838			26355	protein-coding gene	gene with protein product						12477932	Standard	NM_144725		Approved	FLJ25439	uc003jiu.3	Q6PF05	OTTHUMG00000162020	ENST00000505624.1:c.539G>A	5.37:g.34864544G>A	ENSP00000422188:p.Gly180Asp					TTC23L_uc003jiv.2_5'UTR|TTC23L_uc010iut.1_5'UTR	p.G180D	NM_144725	NP_653326	Q6PF05	TT23L_HUMAN			6	642	+			180			Potential.		Q6RGS4|Q8N7R3|Q96LJ2	Missense_Mutation	SNP	ENST00000505624.1	37	c.539G>A	CCDS54840.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.97|15.97	2.988863|2.988863	0.53934|0.53934	0.001068|0.001068	0.0|0.0	ENSG00000205838|ENSG00000205838	ENST00000535797|ENST00000505624	.|T	.|0.73681	.|-0.77	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	1.710450|.	0.02791|.	N|.	0.122048|.	T|T	0.69717|0.69717	0.3142|0.3142	L|L	0.43152|0.43152	1.355|1.355	0.46823|0.46823	D|D	0.999217|0.999217	.|B	.|0.33212	.|0.402	.|B	.|0.32805	.|0.153	T|T	0.68914|0.68914	-0.5283|-0.5283	7|9	0.02654|0.44086	T|T	1|0.13	-17.6641|-17.6641	18.3973|18.3973	0.90502|0.90502	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|180	.|Q6PF05	.|TT23L_HUMAN	Y|D	180|180	.|ENSP00000422188:G180D	ENSP00000443536:C180Y|ENSP00000425242:G180D	C|G	+|+	2|2	0|0	TTC23L|TTC23L	34900301|34900301	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	5.478000|5.478000	0.66806|0.66806	2.643000|2.643000	0.89663|0.89663	0.563000|0.563000	0.77884|0.77884	TGC|GGC		0.423	TTC23L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366819.1	NM_144725		6	105	0	0	0	0	6	105				
PLK2	10769	broad.mit.edu	37	5	57751189	57751189	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:57751189C>T	ENST00000274289.3	-	12	1978	c.1678G>A	c.(1678-1680)Gat>Aat	p.D560N	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	560	POLO box 1. {ECO:0000255|PROSITE- ProRule:PRU00154}.				G1/S transition of mitotic cell cycle (GO:0000082)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|memory (GO:0007613)|mitotic cell cycle checkpoint (GO:0007093)|mitotic spindle organization (GO:0007052)|negative regulation of apoptotic process (GO:0043066)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein phosphorylation (GO:0006468)|Rap protein signal transduction (GO:0032486)|Ras protein signal transduction (GO:0007265)|regulation of centriole replication (GO:0046599)|regulation of synaptic plasticity (GO:0048167)	centriole (GO:0005814)|centrosome (GO:0005813)|dendrite (GO:0030425)|intracellular (GO:0005622)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCAGGAGCATCTGTTGCTGGG	0.408																																						uc003jrn.2		NA																	0				ovary(2)|lung(1)|skin(1)	4						c.(1678-1680)GAT>AAT		polo-like kinase 2							100.0	100.0	100.0					5																	57751189		2203	4300	6503	SO:0001583	missense	10769				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr5:57751189C>T		CCDS3974.1, CCDS75250.1	5q12.1-q13.2	2013-01-18	2010-06-24		ENSG00000145632	ENSG00000145632			19699	protein-coding gene	gene with protein product	"""serum-inducible kinase"""	607023	"""polo-like kinase 2 (Drosophila)"""				Standard	NM_006622		Approved	SNK	uc003jrn.3	Q9NYY3	OTTHUMG00000097047	ENST00000274289.3:c.1678G>A	5.37:g.57751189C>T	ENSP00000274289:p.Asp560Asn						p.D560N	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)	12	1805	-		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)	560			POLO box 1.		O60679|Q96CV7|Q9UE61	Missense_Mutation	SNP	ENST00000274289.3	37	c.1678G>A	CCDS3974.1	.	.	.	.	.	.	.	.	.	.	C	14.90	2.674746	0.47781	.	.	ENSG00000145632	ENST00000274289	T	0.11495	2.77	5.67	5.67	0.87782	POLO box duplicated domain (2);	0.132361	0.64402	D	0.000002	T	0.09468	0.0233	N	0.11364	0.135	0.53688	D	0.999977	B	0.24317	0.101	B	0.32022	0.139	T	0.38693	-0.9649	10	0.33940	T	0.23	-12.8917	19.7606	0.96314	0.0:1.0:0.0:0.0	.	560	Q9NYY3	PLK2_HUMAN	N	560	ENSP00000274289:D560N	ENSP00000274289:D560N	D	-	1	0	PLK2	57786946	1.000000	0.71417	1.000000	0.80357	0.811000	0.45836	7.487000	0.81328	2.681000	0.91329	0.561000	0.74099	GAT		0.408	PLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214150.1	NM_006622		15	67	0	0	0	0	15	67				
TTC37	9652	broad.mit.edu	37	5	94833175	94833175	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:94833175G>T	ENST00000358746.2	-	34	3879	c.3581C>A	c.(3580-3582)gCt>gAt	p.A1194D		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1194						cytoplasm (GO:0005737)|nucleus (GO:0005634)|Ski complex (GO:0055087)|transcriptionally active chromatin (GO:0035327)				breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AGACCAAAGAGCAGGGTCACC	0.373																																						uc003klb.2		NA																	0				ovary(3)|pancreas(1)	4						c.(3580-3582)GCT>GAT		tetratricopeptide repeat domain 37							101.0	91.0	94.0					5																	94833175		2203	4300	6503	SO:0001583	missense	9652						binding	g.chr5:94833175G>T	AB002370	CCDS4072.1	5q15	2014-09-17	2008-06-11	2008-06-11	ENSG00000198677	ENSG00000198677		"""Tetratricopeptide (TTC) repeat domain containing"""	23639	protein-coding gene	gene with protein product		614589	"""KIAA0372"""	KIAA0372		9205841	Standard	NM_014639		Approved		uc003klb.3	Q6PGP7	OTTHUMG00000121165	ENST00000358746.2:c.3581C>A	5.37:g.94833175G>T	ENSP00000351596:p.Ala1194Asp						p.A1194D	NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN			34	3851	-			1194					O15077|Q6PJI3	Missense_Mutation	SNP	ENST00000358746.2	37	c.3581C>A	CCDS4072.1	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950738	0.53186	.	.	ENSG00000198677	ENST00000358746	T	0.37584	1.19	5.9	5.9	0.94986	Tetratricopeptide-like helical (1);	0.161235	0.56097	D	0.000028	T	0.31231	0.0790	L	0.51422	1.61	0.43330	D	0.995369	P	0.42010	0.768	B	0.37692	0.256	T	0.05750	-1.0866	10	0.11182	T	0.66	.	15.0376	0.71761	0.0:0.0:0.8579:0.1421	.	1194	Q6PGP7	TTC37_HUMAN	D	1194	ENSP00000351596:A1194D	ENSP00000351596:A1194D	A	-	2	0	TTC37	94858931	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	5.678000	0.68153	2.793000	0.96121	0.591000	0.81541	GCT		0.373	TTC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241651.1	NM_014639		6	20	1	0	0.000157383	0.000774942	6	20				
FSTL4	23105	broad.mit.edu	37	5	132556521	132556521	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:132556521G>A	ENST00000265342.7	-	12	1626	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	CTB-49A3.2_ENST00000509051.1_RNA|CTB-49A3.2_ENST00000502776.1_RNA|FSTL4_ENST00000507112.1_5'UTR	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	459						extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGATACCGTCGTCGGAGAAGA	0.547																																						uc003kyn.1		NA																	0				central_nervous_system(1)|skin(1)	2						c.(1375-1377)GAC>GAT		follistatin-like 4 precursor							135.0	121.0	126.0					5																	132556521		2203	4300	6503	SO:0001819	synonymous_variant	23105					extracellular region	calcium ion binding	g.chr5:132556521G>A	AB028984	CCDS34238.1	5q31.1	2013-01-29			ENSG00000053108	ENSG00000053108		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21389	protein-coding gene	gene with protein product						10470851, 15527507	Standard	NM_015082		Approved	KIAA1061	uc003kyn.1	Q6MZW2	OTTHUMG00000162729	ENST00000265342.7:c.1377C>T	5.37:g.132556521G>A						FSTL4_uc003kym.1_Silent_p.D108D	p.D459D	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		12	1595	-		all_cancers(142;0.244)	459					Q8TBU0|Q9UPU1	Silent	SNP	ENST00000265342.7	37	c.1377C>T	CCDS34238.1																																																																																				0.547	FSTL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370212.1	XM_048786		19	84	0	0	0	0	19	84				
PCDHGB3	56102	broad.mit.edu	37	5	140779287	140779287	+	Intron	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:140779287C>T	ENST00000576222.1	+	1	2546				PCDHGA1_ENST00000517417.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACAGGCCCGCGACCAGGGCT	0.662																																						uc003lkf.1		NA																	0					0						c.(1591-1593)CGC>CGT		protocadherin gamma subfamily B, 5 isoform 1							23.0	29.0	27.0					5																	140779287		2022	4180	6202	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140779287C>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26911C>T	5.37:g.140779287C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.R531R	p.R531R	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1593	+			531			Extracellular (Potential).|Cadherin 5.		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1593C>T	CCDS58980.1																																																																																				0.662	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		7	27	0	0	0	0	7	27				
FBXO38	81545	broad.mit.edu	37	5	147819261	147819261	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr5:147819261C>G	ENST00000340253.5	+	19	3244	c.3076C>G	c.(3076-3078)Cac>Gac	p.H1026D	FBXO38_ENST00000394370.3_Missense_Mutation_p.H951D|FBXO38_ENST00000296701.6_Missense_Mutation_p.H781D|FBXO38_ENST00000513826.1_Missense_Mutation_p.H781D			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1026					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACCCCTATCACATCTGTAT	0.433																																						uc003lpf.1		NA																	0				ovary(4)|skin(2)	6						c.(3076-3078)CAC>GAC		F-box protein 38 isoform b							127.0	120.0	123.0					5																	147819261		2203	4300	6503	SO:0001583	missense	81545					cytoplasm|nucleus		g.chr5:147819261C>G	BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3076C>G	5.37:g.147819261C>G	ENSP00000342023:p.His1026Asp					FBXO38_uc003lpg.1_Missense_Mutation_p.H951D|FBXO38_uc003lph.2_Missense_Mutation_p.H781D	p.H1026D	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		19	3196	+			1026					Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	ENST00000340253.5	37	c.3076C>G		.	.	.	.	.	.	.	.	.	.	C	27.0	4.795764	0.90453	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.31247	1.5;1.57;1.55;1.57	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.45216	0.1331	L	0.34521	1.04	0.36614	D	0.875352	D;P;D	0.53462	0.96;0.744;0.958	D;B;P	0.64237	0.923;0.215;0.663	T	0.48592	-0.9022	10	0.59425	D	0.04	-14.6636	18.325	0.90251	0.0:1.0:0.0:0.0	.	781;951;1026	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	D	1026;781;951;781	ENSP00000342023:H1026D;ENSP00000296701:H781D;ENSP00000377895:H951D;ENSP00000426410:H781D	ENSP00000296701:H781D	H	+	1	0	FBXO38	147799454	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.270000	0.78493	2.741000	0.93983	0.650000	0.86243	CAC		0.433	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252185.2	NM_030793		16	88	0	0	0	0	16	88				
WRNIP1	56897	broad.mit.edu	37	6	2779537	2779537	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:2779537G>A	ENST00000380773.4	+	4	1506	c.1297G>A	c.(1297-1299)Gct>Act	p.A433T	WRNIP1_ENST00000380764.1_Missense_Mutation_p.A49T|WRNIP1_ENST00000380771.4_Missense_Mutation_p.A408T|WRNIP1_ENST00000380769.4_Missense_Mutation_p.A213T	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				AGACACCCTGGCTTACCTCAG	0.532																																						uc003mtz.2		NA																	0				ovary(1)|pancreas(1)	2						c.(1297-1299)GCT>ACT		Werner helicase interacting protein isoform 1							113.0	92.0	99.0					6																	2779537		2203	4300	6503	SO:0001583	missense	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2779537G>A	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1297G>A	6.37:g.2779537G>A	ENSP00000370150:p.Ala433Thr					WRNIP1_uc003mua.2_Missense_Mutation_p.A408T	p.A433T	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN			4	1488	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	433						Missense_Mutation	SNP	ENST00000380773.4	37	c.1297G>A	CCDS4475.1	.	.	.	.	.	.	.	.	.	.	G	34	5.332532	0.95733	.	.	ENSG00000124535	ENST00000380773;ENST00000380771;ENST00000380769;ENST00000380764	T;T;T	0.55588	0.51;0.51;0.51	5.7	5.7	0.88788	.	0.049137	0.85682	D	0.000000	T	0.60457	0.2270	M	0.85041	2.73	0.80722	D	1	P;P	0.43885	0.82;0.784	B;P	0.47162	0.372;0.54	T	0.66598	-0.5883	10	0.56958	D	0.05	-30.0541	18.8243	0.92111	0.0:0.0:1.0:0.0	.	408;433	Q96S55-2;Q96S55	.;WRIP1_HUMAN	T	433;408;213;49	ENSP00000370150:A433T;ENSP00000370148:A408T;ENSP00000370146:A213T	ENSP00000370141:A49T	A	+	1	0	WRNIP1	2724536	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	6.158000	0.71851	2.684000	0.91462	0.585000	0.79938	GCT		0.532	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		22	67	0	0	0	0	22	67				
MBOAT1	154141	broad.mit.edu	37	6	20124638	20124638	+	Splice_Site	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:20124638C>T	ENST00000324607.7	-	8	1072		c.e8+1		MBOAT1_ENST00000541730.1_Splice_Site	NM_001080480.1	NP_001073949.1	Q6ZNC8	MBOA1_HUMAN	membrane bound O-acyltransferase domain containing 1						glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			ATCAAACTTACCTAATGTCCA	0.428																																						uc003ncx.1		NA																	0					0						c.e8+1		membrane bound O-acyltransferase domain							113.0	95.0	101.0					6																	20124638		2203	4300	6503	SO:0001630	splice_region_variant	154141				phospholipid biosynthetic process	integral to membrane	acyltransferase activity	g.chr6:20124638C>T	AK093994	CCDS34346.1	6p22.3	2013-10-11	2006-06-29	2006-06-29	ENSG00000172197	ENSG00000172197			21579	protein-coding gene	gene with protein product	"""lysophosphatidylethanolamine acyltransferase 1"""	611732	"""O-acyltransferase (membrane bound) domain containing 1"""	OACT1		18287005	Standard	NM_001080480		Approved	MGC44669, dJ434O11.1, LPEAT1	uc003ncx.2	Q6ZNC8	OTTHUMG00000014334	ENST00000324607.7:c.907+1G>A	6.37:g.20124638C>T						MBOAT1_uc011dji.1_Splice_Site_p.A154_splice	p.A303_splice	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)		8	1112	-	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)							A9EDQ5|B4DL59|B4E3J4|Q86XC2|Q8N9R5	Splice_Site	SNP	ENST00000324607.7	37	c.907_splice	CCDS34346.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.608392	0.87258	.	.	ENSG00000172197	ENST00000541730;ENST00000324607	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0086	0.97443	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MBOAT1	20232617	1.000000	0.71417	0.998000	0.56505	0.839000	0.47603	7.477000	0.81069	2.808000	0.96608	0.655000	0.94253	.		0.428	MBOAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039980.1		Intron	12	45	0	0	0	0	12	45				
ZKSCAN8	7745	broad.mit.edu	37	6	28120928	28120928	+	Silent	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:28120928C>T	ENST00000330236.6	+	6	1054	c.870C>T	c.(868-870)aaC>aaT	p.N290N	ZKSCAN8_ENST00000457389.2_Silent_p.N290N	NM_001278119.1|NM_001278121.1|NM_001278122.1|NM_006298.2	NP_001265048.1|NP_001265050.1|NP_001265051.1|NP_006289.2	Q15776	ZKSC8_HUMAN	zinc finger with KRAB and SCAN domains 8	290	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				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)										CCAAATGCAACGGGGATGTTA	0.493																																						uc003nkn.1		NA																	0					0						c.(868-870)AAC>AAT		zinc finger protein 192							82.0	83.0	83.0					6																	28120928		2203	4300	6503	SO:0001819	synonymous_variant	7745				viral reproduction	cytoplasm|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:28120928C>T		CCDS4645.1	6p21	2013-01-09	2013-01-09	2013-01-09	ENSG00000198315	ENSG00000198315		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12983	protein-coding gene	gene with protein product		602240	"""zinc finger protein 192"""	ZNF192			Standard	NM_001278119		Approved	LD5-1, ZSCAN40	uc003nkn.2	Q15776	OTTHUMG00000014510	ENST00000330236.6:c.870C>T	6.37:g.28120928C>T						ZNF192_uc010jqx.1_Silent_p.N290N|ZNF192_uc010jqy.1_Silent_p.N103N|ZNF192_uc011dkz.1_Silent_p.N103N	p.N290N	NM_006298	NP_006289	Q15776	ZN192_HUMAN			6	1054	+			290			KRAB.		A1L3D4|B4DYF1|Q4VAR1|Q4VAR2|Q4VAR3|Q9H4T1	Silent	SNP	ENST00000330236.6	37	c.870C>T	CCDS4645.1																																																																																				0.493	ZKSCAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040178.2			19	36	0	0	0	0	19	36				
KCTD20	222658	broad.mit.edu	37	6	36449469	36449469	+	Silent	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:36449469G>C	ENST00000373731.2	+	6	1180	c.789G>C	c.(787-789)ctG>ctC	p.L263L	KCTD20_ENST00000449081.2_Silent_p.L97L|KCTD20_ENST00000544295.1_Silent_p.L17L|KCTD20_ENST00000474988.1_3'UTR|KCTD20_ENST00000536244.1_Silent_p.L118L	NM_173562.3	NP_775833.2	Q7Z5Y7	KCD20_HUMAN	potassium channel tetramerization domain containing 20	263					protein homooligomerization (GO:0051260)					central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTGTTGTGCTGACGGATGAGG	0.507																																						uc003ome.2		NA																	0				ovary(2)	2						c.(787-789)CTG>CTC		potassium channel tetramerisation domain							146.0	125.0	132.0					6																	36449469		2203	4300	6503	SO:0001819	synonymous_variant	222658					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr6:36449469G>C	BC023525	CCDS4821.1, CCDS69096.1, CCDS69097.1	6p21.31	2013-06-20	2013-06-20	2006-06-26	ENSG00000112078	ENSG00000112078			21052	protein-coding gene	gene with protein product		615932	"""chromosome 6 open reading frame 69"", ""potassium channel tetramerisation domain containing 20"""	C6orf69			Standard	NM_001286580		Approved	dJ108K11.3, MGC14254	uc003ome.3	Q7Z5Y7	OTTHUMG00000014597	ENST00000373731.2:c.789G>C	6.37:g.36449469G>C						KCTD20_uc011dtm.1_Silent_p.L118L|KCTD20_uc011dtn.1_Silent_p.L17L|KCTD20_uc010jwk.2_Silent_p.L97L|KCTD20_uc011dto.1_Silent_p.L17L	p.L263L	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN			6	1180	+			263					B4DZD3|B4E2Q3|F5H3T3|Q5W105|Q69YQ7|Q8IZ55	Silent	SNP	ENST00000373731.2	37	c.789G>C	CCDS4821.1																																																																																				0.507	KCTD20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040345.2	NM_173562		8	54	0	0	0	0	8	54				
MEA1	4201	broad.mit.edu	37	6	42980233	42980233	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:42980233C>T	ENST00000244711.3	-	4	687	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	KLHDC3_ENST00000326974.4_5'Flank|KLHDC3_ENST00000244670.8_5'Flank	NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	178					cell differentiation (GO:0030154)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)				central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGATGCCTGCCGGGCTTGGAG	0.582																																						uc003otk.2		NA																	0				central_nervous_system(1)|skin(1)	2						c.(532-534)CGG>CAG		male-enhanced antigen							169.0	165.0	166.0					6																	42980233		2203	4300	6503	SO:0001583	missense	4201				cell differentiation|male gonad development|spermatogenesis		protein binding	g.chr6:42980233C>T		CCDS4879.1	6p21.3-p21.1	2008-08-15	2005-06-02	2005-06-02	ENSG00000124733	ENSG00000124733			6986	protein-coding gene	gene with protein product		143170	"""male-enhanced antigen"""	MEA		2813404, 12444059	Standard	NM_014623		Approved		uc003otk.3	Q16626	OTTHUMG00000014717	ENST00000244711.3:c.533G>A	6.37:g.42980233C>T	ENSP00000244711:p.Arg178Gln					MEA1_uc010jyc.1_Intron|KLHDC3_uc003otl.2_5'Flank|KLHDC3_uc003otm.2_5'Flank|KLHDC3_uc010jyf.2_5'Flank|KLHDC3_uc003otn.2_5'Flank	p.R178Q	NM_014623	NP_055438	Q16626	MEA1_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		4	600	-			178					Q5TC36|Q9BV01	Missense_Mutation	SNP	ENST00000244711.3	37	c.533G>A	CCDS4879.1	.	.	.	.	.	.	.	.	.	.	C	18.00	3.525143	0.64747	.	.	ENSG00000124733	ENST00000244711	T	0.55930	0.49	6.17	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.27134	0.0665	L	0.34521	1.04	0.52501	D	0.999951	P	0.40066	0.701	B	0.35182	0.197	T	0.09335	-1.0679	10	0.36615	T	0.2	-5.6437	15.3679	0.74538	0.0:0.9329:0.0:0.0671	.	178	Q16626	MEA1_HUMAN	Q	178	ENSP00000244711:R178Q	ENSP00000244711:R178Q	R	-	2	0	MEA1	43088211	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.259000	0.58828	1.630000	0.50440	0.655000	0.94253	CGG		0.582	MEA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040574.2			37	172	0	0	0	0	37	172				
SLC35F1	222553	broad.mit.edu	37	6	118228943	118228943	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr6:118228943G>A	ENST00000360388.4	+	1	255	c.54G>A	c.(52-54)ccG>ccA	p.P18P		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	18					transport (GO:0006810)	integral component of membrane (GO:0016021)				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		CGCCAGCCCCGCCGAACCATG	0.746																																						uc003pxx.3		NA																	0				breast(1)	1						c.(52-54)CCG>CCA		solute carrier family 35, member F1							9.0	13.0	12.0					6																	118228943		1708	3680	5388	SO:0001819	synonymous_variant	222553				transport	integral to membrane		g.chr6:118228943G>A	BC028615	CCDS34524.1	6q22.31	2013-05-22			ENSG00000196376	ENSG00000196376		"""Solute carriers"""	21483	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 169"""	C6orf169			Standard	NM_001029858		Approved	dJ230I3.1	uc003pxx.4	Q5T1Q4	OTTHUMG00000015460	ENST00000360388.4:c.54G>A	6.37:g.118228943G>A							p.P18P	NM_001029858	NP_001025029	Q5T1Q4	S35F1_HUMAN		GBM - Glioblastoma multiforme(226;0.217)	1	255	+			18					E1P564|Q1RMG1|Q4G0U9|Q4G167|Q6N007	Silent	SNP	ENST00000360388.4	37	c.54G>A	CCDS34524.1																																																																																				0.746	SLC35F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041991.2	XM_167044		14	16	0	0	0	0	14	16				
DNAH11	8701	broad.mit.edu	37	7	21639665	21639665	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:21639665G>T	ENST00000409508.3	+	15	2959	c.2928G>T	c.(2926-2928)atG>atT	p.M976I	DNAH11_ENST00000328843.6_Missense_Mutation_p.M976I	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	976	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGAAGAAATGTTATGCAATA	0.373									Kartagener syndrome																													uc003svc.2		NA																	0				ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(2926-2928)ATG>ATT		dynein, axonemal, heavy chain 11							61.0	59.0	60.0					7																	21639665		1852	4090	5942	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21639665G>T	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2928G>T	7.37:g.21639665G>T	ENSP00000475939:p.Met976Ile						p.M976I	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			15	2959	+			976			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2928G>T		.	.	.	.	.	.	.	.	.	.	G	12.49	1.953366	0.34471	.	.	ENSG00000105877	ENST00000328843	T	0.20738	2.05	5.72	2.76	0.32466	.	0.245989	0.44285	N	0.000461	T	0.10078	0.0247	.	.	.	0.43408	D	0.99554	B	0.06786	0.001	B	0.04013	0.001	T	0.12915	-1.0529	9	0.10902	T	0.67	.	7.8112	0.29232	0.0713:0.17:0.652:0.1068	.	976	Q96DT5	DYH11_HUMAN	I	976	ENSP00000330671:M976I	ENSP00000330671:M976I	M	+	3	0	DNAH11	21606190	0.029000	0.19370	0.962000	0.40283	0.971000	0.66376	0.104000	0.15313	1.537000	0.49254	0.655000	0.94253	ATG		0.373	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		5	94	1	0	5.94e-07	3.07e-06	5	94				
GTF2I	2969	broad.mit.edu	37	7	74105332	74105332	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:74105332G>A	ENST00000324896.4	+	3	516	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	GTF2I_ENST00000353920.4_Missense_Mutation_p.E43K|AC083884.8_ENST00000450426.2_RNA|GTF2I_ENST00000346152.4_Missense_Mutation_p.E43K|GTF2I_ENST00000443166.1_Missense_Mutation_p.E43K|GTF2I_ENST00000416070.1_Missense_Mutation_p.E43K	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	43					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						GTCCAAAGCCGAAGTGGCCTG	0.408																																						uc003uau.2		NA																	0					0						c.(127-129)GAA>AAA		general transcription factor IIi isoform 1							158.0	146.0	150.0					7																	74105332		2203	4300	6503	SO:0001583	missense	2969				negative regulation of angiogenesis|signal transduction|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:74105332G>A	U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.127G>A	7.37:g.74105332G>A	ENSP00000322542:p.Glu43Lys					GTF2I_uc003uat.2_Missense_Mutation_p.E43K|GTF2I_uc003uav.2_Missense_Mutation_p.E43K|GTF2I_uc003uaw.2_Missense_Mutation_p.E43K|GTF2I_uc003uay.2_Missense_Mutation_p.E43K|GTF2I_uc003uax.2_Missense_Mutation_p.E43K	p.E43K	NM_032999	NP_127492	P78347	GTF2I_HUMAN			3	497	+			43					O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	ENST00000324896.4	37	c.127G>A	CCDS5573.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011535	0.93346	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070;ENST00000443166;ENST00000432143	T;T;T;T;T	0.63417	0.4;0.49;0.46;0.53;-0.04	4.6	4.6	0.57074	.	0.000000	0.64402	D	0.000006	T	0.80154	0.4571	M	0.80746	2.51	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	1.0;1.0;0.995;0.999;0.997;1.0	D;D;D;D;D;D	0.91635	0.981;0.999;0.97;0.988;0.955;0.998	D	0.83861	0.0268	10	0.87932	D	0	-17.0858	16.4134	0.83726	0.0:0.0:1.0:0.0	.	43;43;43;43;43;43	Q499G6;P78347-2;P78347-3;P78347-4;P78347;Q86U51	.;.;.;.;GTF2I_HUMAN;.	K	43;38;43;43;43;43;43	ENSP00000322542:E43K;ENSP00000322671:E43K;ENSP00000322599:E43K;ENSP00000387651:E43K;ENSP00000404240:E43K	ENSP00000322542:E43K	E	+	1	0	GTF2I	73743268	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	6.595000	0.74109	2.119000	0.64992	0.557000	0.71058	GAA		0.408	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252708.1	NM_032999		43	126	0	0	0	0	43	126				
ZNF804B	219578	broad.mit.edu	37	7	88963666	88963666	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:88963666G>C	ENST00000333190.4	+	4	1979	c.1370G>C	c.(1369-1371)tGg>tCg	p.W457S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	457							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ACTCTTCAATGGCCTACGGAA	0.418										HNSCC(36;0.09)																												uc011khi.1		NA																	0				ovary(5)|skin(3)|pancreas(2)|upper_aerodigestive_tract(1)	11						c.(1369-1371)TGG>TCG		zinc finger protein 804B							74.0	71.0	72.0					7																	88963666		2200	4300	6500	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88963666G>C	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.1370G>C	7.37:g.88963666G>C	ENSP00000329638:p.Trp457Ser	HNSCC(36;0.09)					p.W457S	NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1908	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		457					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.1370G>C	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932457	0.73442	.	.	ENSG00000182348	ENST00000333190	T	0.58797	0.31	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000013	T	0.78880	0.4353	M	0.81942	2.565	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80540	-0.1337	10	0.87932	D	0	-8.0876	19.5755	0.95441	0.0:0.0:1.0:0.0	.	457	A4D1E1	Z804B_HUMAN	S	457	ENSP00000329638:W457S	ENSP00000329638:W457S	W	+	2	0	ZNF804B	88801602	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	9.263000	0.95617	2.865000	0.98341	0.655000	0.94253	TGG		0.418	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		12	63	0	0	0	0	12	63				
TAS2R16	50833	broad.mit.edu	37	7	122635071	122635071	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:122635071C>A	ENST00000249284.2	-	1	683	c.618G>T	c.(616-618)caG>caT	p.Q206H		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	206					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	bitter taste receptor activity (GO:0033038)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATGTTGTATCTGCTTGGTCA	0.463																																						uc003vkl.1		NA																	0				ovary(1)|skin(1)	2						c.(616-618)CAG>CAT		taste receptor T2R16							152.0	127.0	136.0					7																	122635071		2203	4300	6503	SO:0001583	missense	50833				detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	g.chr7:122635071C>A	AF227139	CCDS5785.1	7q31.1-q31.3	2012-08-22			ENSG00000128519	ENSG00000128519		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14921	protein-coding gene	gene with protein product		604867				10761934	Standard	NM_016945		Approved	T2R16	uc003vkl.1	Q9NYV7	OTTHUMG00000157090	ENST00000249284.2:c.618G>T	7.37:g.122635071C>A	ENSP00000249284:p.Gln206His						p.Q206H	NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN			1	684	-			206			Cytoplasmic (Potential).		A4D0X2|Q502V3|Q549U8|Q645W1	Missense_Mutation	SNP	ENST00000249284.2	37	c.618G>T	CCDS5785.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014875	0.35511	.	.	ENSG00000128519	ENST00000249284	T	0.00995	5.46	4.44	0.272	0.15645	.	0.777662	0.11333	N	0.574805	T	0.01627	0.0052	M	0.64404	1.975	0.09310	N	1	P	0.48294	0.908	P	0.53313	0.723	T	0.21211	-1.0252	10	0.02654	T	1	.	3.6855	0.08327	0.0:0.4889:0.1885:0.3226	.	206	Q9NYV7	T2R16_HUMAN	H	206	ENSP00000249284:Q206H	ENSP00000249284:Q206H	Q	-	3	2	TAS2R16	122422307	0.030000	0.19436	0.013000	0.15412	0.027000	0.11550	-0.127000	0.10547	0.227000	0.20999	0.655000	0.94253	CAG		0.463	TAS2R16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347409.1	NM_016945		18	92	1	0	1.01e-13	5.46e-13	18	92				
PAX4	5078	broad.mit.edu	37	7	127253563	127253563	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:127253563C>T	ENST00000341640.2	-	5	767	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PAX4_ENST00000378740.2_Missense_Mutation_p.D188N|PAX4_ENST00000463946.1_Missense_Mutation_p.D186N|PAX4_ENST00000338516.3_Missense_Mutation_p.D196N	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	196					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCCACTGAATCAGGATACTGC	0.577																																					Ovarian(113;737 1605 7858 27720 34092)	uc010lld.1		NA																	0				ovary(1)	1						c.(562-564)GAT>AAT		paired box 4							64.0	65.0	65.0					7																	127253563		2203	4300	6503	SO:0001583	missense	5078				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:127253563C>T		CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.562G>A	7.37:g.127253563C>T	ENSP00000339906:p.Asp188Asn					PAX4_uc003vmf.2_Missense_Mutation_p.D186N|PAX4_uc003vmg.1_Missense_Mutation_p.D188N|PAX4_uc003vmh.2_Missense_Mutation_p.D186N	p.D188N	NM_006193	NP_006184	O43316	PAX4_HUMAN			5	768	-			196			Homeobox.		O95161|Q6B0H0	Missense_Mutation	SNP	ENST00000341640.2	37	c.562G>A	CCDS5797.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440066	0.96168	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.95724	-3.79;-3.79;-3.79	4.9	4.9	0.64082	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.060012	0.64402	D	0.000005	D	0.96975	0.9012	L	0.58669	1.825	0.58432	D	0.999998	D;D;D;D	0.89917	1.0;0.999;1.0;0.998	D;D;D;D	0.91635	0.999;0.997;0.999;0.962	D	0.97374	0.9978	10	0.87932	D	0	.	16.3859	0.83504	0.0:1.0:0.0:0.0	.	188;186;196;186	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	N	188;196;196;186	ENSP00000339906:D188N;ENSP00000344297:D196N;ENSP00000451923:D186N	ENSP00000344297:D196N	D	-	1	0	PAX4	127040799	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.325000	0.72901	2.661000	0.90470	0.650000	0.86243	GAT		0.577	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349165.1			15	55	0	0	0	0	15	55				
AGK	55750	broad.mit.edu	37	7	141333766	141333766	+	Silent	SNP	C	C	T	rs144977618		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:141333766C>T	ENST00000355413.4	+	10	914	c.654C>T	c.(652-654)ggC>ggT	p.G218G	AGK_ENST00000473247.1_Silent_p.G190G|AGK_ENST00000535825.1_Silent_p.G215G	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	218					ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					GAGATGCTGGCGTCAAAGTTA	0.368																																						uc003vwi.2		NA																	0				ovary(1)|breast(1)	2						c.(652-654)GGC>GGT		acylglycerol kinase precursor							116.0	117.0	117.0					7																	141333766		2203	4300	6503	SO:0001819	synonymous_variant	55750				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity	g.chr7:141333766C>T	BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.654C>T	7.37:g.141333766C>T						AGK_uc011krg.1_RNA	p.G218G	NM_018238	NP_060708	Q53H12	AGK_HUMAN			10	825	+	Melanoma(164;0.0171)		218					Q75KN1|Q96GC3|Q9NP48	Silent	SNP	ENST00000355413.4	37	c.654C>T	CCDS5865.1																																																																																				0.368	AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238		22	60	0	0	0	0	22	60				
SLC4A2	6522	broad.mit.edu	37	7	150771490	150771490	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:150771490G>A	ENST00000485713.1	+	18	3835	c.2795G>A	c.(2794-2796)cGg>cAg	p.R932Q	SLC4A2_ENST00000310317.5_Missense_Mutation_p.R850Q|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R918Q|RP11-148K1.12_ENST00000485974.1_RNA|FASTK_ENST00000489884.1_5'Flank|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R932Q|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R923Q	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	932	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTCAGATCCGGCGGGTGATT	0.597																																						uc003wit.3		NA																	0					0						c.(2794-2796)CGG>CAG		solute carrier family 4, anion exchanger, member							104.0	102.0	103.0					7																	150771490		2203	4300	6503	SO:0001583	missense	6522				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	g.chr7:150771490G>A		CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2795G>A	7.37:g.150771490G>A	ENSP00000419412:p.Arg932Gln					SLC4A2_uc011kve.1_Missense_Mutation_p.R923Q|SLC4A2_uc003wiu.3_Missense_Mutation_p.R918Q|SLC4A2_uc003wiv.3_Missense_Mutation_p.R126Q	p.R932Q	NM_003040	NP_003031	P04920	B3A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	18	3051	+			932			Membrane (anion exchange).|Cytoplasmic (Potential).		B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	c.2795G>A	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	35	5.445228	0.96187	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11	5.54	4.6	0.57074	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.95236	0.8455	H	0.95679	3.705	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96190	0.9137	10	0.87932	D	0	.	14.6035	0.68460	0.0:0.1466:0.8534:0.0	.	923;918;932	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	Q	932;932;850;923;918	ENSP00000419412:R932Q;ENSP00000405600:R932Q;ENSP00000311402:R850Q;ENSP00000376571:R923Q;ENSP00000419164:R918Q	ENSP00000311402:R850Q	R	+	2	0	SLC4A2	150402423	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.920000	0.87521	2.607000	0.88179	0.561000	0.74099	CGG		0.597	SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040		35	98	0	0	0	0	35	98				
KMT2C	58508	broad.mit.edu	37	7	151848538	151848538	+	Missense_Mutation	SNP	G	G	A	rs139111507	byFrequency	TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr7:151848538G>A	ENST00000262189.6	-	50	12873	c.12655C>T	c.(12655-12657)Ctt>Ttt	p.L4219F	KMT2C_ENST00000485241.1_5'Flank|KMT2C_ENST00000355193.2_Missense_Mutation_p.L4276F	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4219					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TTGTTCAAAAGGGTCAGATCT	0.463																																						uc003wla.2		NA								N							medulloblastoma		0				large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(12655-12657)CTT>TTT		myeloid/lymphoid or mixed-lineage leukemia 3							101.0	86.0	91.0					7																	151848538		2203	4300	6503	SO:0001583	missense	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151848538G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12655C>T	7.37:g.151848538G>A	ENSP00000262189:p.Leu4219Phe					MLL3_uc003wkz.2_Missense_Mutation_p.L3337F|MLL3_uc003wkx.2_Missense_Mutation_p.L377F|MLL3_uc003wky.2_Missense_Mutation_p.L1783F	p.L4219F	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	50	12874	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	4219					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.12655C>T	CCDS5931.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.844|0.844	-0.740830|-0.740830	0.03088|0.03088	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	D;D;D|.	0.88046|.	-1.67;-1.65;-2.33|.	4.96|4.96	2.62|2.62	0.31277|0.31277	.|.	0.494512|.	0.16675|.	N|.	0.204209|.	T|T	0.07548|0.07548	0.0190|0.0190	N|N	0.00317|0.00317	-1.655|-1.655	0.09310|0.09310	N|N	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.04013|.	0.001;0.0;0.0|.	T|T	0.36383|0.36383	-0.9750|-0.9750	10|5	0.15499|.	T|.	0.54|.	.|.	8.4836|8.4836	0.33059|0.33059	0.8388:0.0:0.1612:0.0|0.8388:0.0:0.1612:0.0	.|.	4219;3337;4276|.	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3|.	MLL3_HUMAN;.;.|.	F|L	4219;4276;836|1779	ENSP00000262189:L4219F;ENSP00000347325:L4276F;ENSP00000410411:L836F|.	ENSP00000262189:L4219F|.	L|P	-|-	1|2	0|0	MLL3|MLL3	151479471|151479471	0.917000|0.917000	0.31117|0.31117	0.002000|0.002000	0.10522|0.10522	0.105000|0.105000	0.19272|0.19272	2.614000|2.614000	0.46359|0.46359	0.272000|0.272000	0.22027|0.22027	-0.378000|-0.378000	0.06908|0.06908	CTT|CCT		0.463	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			6	20	0	0	0	0	6	20				
NEIL2	252969	broad.mit.edu	37	8	11637389	11637389	+	Missense_Mutation	SNP	G	G	A	rs113905789		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr8:11637389G>A	ENST00000284503.6	+	3	1020	c.421G>A	c.(421-423)Gtt>Att	p.V141I	NEIL2_ENST00000436750.3_Missense_Mutation_p.V141I|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000455213.2_Missense_Mutation_p.V141I|NEIL2_ENST00000403422.3_Missense_Mutation_p.V80I	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	141					base-excision repair (GO:0006284)|nucleotide-excision repair (GO:0006289)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	damaged DNA binding (GO:0003684)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		GTTTGGCAGCGTTTGGGTGAA	0.572								Base excision repair (BER), DNA glycosylases																														uc003wug.2		NA																	0					0						c.(421-423)GTT>ATT	BER_DNA_glycosylases	nei like 2 isoform a		A	ILE/VAL,ILE/VAL,,ILE/VAL	0,4406		0,0,2203	84.0	83.0	83.0		421,238,,421	-9.4	0.0	8	dbSNP_132	83	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,missense	NEIL2	NM_001135746.1,NM_001135747.1,NM_001135748.1,NM_145043.2	29,29,,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,,benign	141/333,80/272,,141/333	11637389	1,13005	2203	4300	6503	SO:0001583	missense	252969				base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding	g.chr8:11637389G>A	AK056206	CCDS5984.1, CCDS47802.1, CCDS47803.1	8p23.1	2010-04-27	2010-04-27		ENSG00000154328	ENSG00000154328			18956	protein-coding gene	gene with protein product		608933	"""nei like 2 (E. coli)"""			12097317, 17686777	Standard	NM_145043		Approved	NEH2, FLJ31644, MGC2832, MGC4505	uc003wue.2	Q969S2	OTTHUMG00000090753	ENST00000284503.6:c.421G>A	8.37:g.11637389G>A	ENSP00000284503:p.Val141Ile					NEIL2_uc003wue.2_Missense_Mutation_p.V141I|NEIL2_uc003wuf.2_Missense_Mutation_p.V80I|NEIL2_uc011kxd.1_Intron	p.V141I	NM_145043	NP_659480	Q969S2	NEIL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)	3	1096	+	all_epithelial(15;0.103)		141					B4DFR7|Q7Z3Q7|Q8N842|Q8NG52	Missense_Mutation	SNP	ENST00000284503.6	37	c.421G>A	CCDS5984.1	.	.	.	.	.	.	.	.	.	.	g	0.185	-1.058331	0.01950	0.0	1.16E-4	ENSG00000154328	ENST00000530433;ENST00000455213;ENST00000403422;ENST00000436750;ENST00000284503;ENST00000382309	T;T;T;T	0.13657	2.57;3.5;2.57;2.57	4.72	-9.45	0.00600	DNA glycosylase/AP lyase, catalytic domain (2);	0.430161	0.26623	N	0.023353	T	0.03477	0.0100	N	0.00801	-1.175	0.09310	N	1	B	0.17268	0.021	B	0.13407	0.009	T	0.25187	-1.0139	10	0.15952	T	0.53	-11.8611	20.7356	0.99720	0.3366:0.0:0.6634:0.0	.	141	Q969S2	NEIL2_HUMAN	I	141;141;80;141;141;126	ENSP00000397538:V141I;ENSP00000384070:V80I;ENSP00000394023:V141I;ENSP00000284503:V141I	ENSP00000284503:V141I	V	+	1	0	NEIL2	11674798	0.000000	0.05858	0.007000	0.13788	0.641000	0.38312	-3.496000	0.00451	-2.423000	0.00562	-0.993000	0.02533	GTT		0.572	NEIL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207583.3	NM_145043		34	75	0	0	0	0	34	75				
PSD3	23362	broad.mit.edu	37	8	18725364	18725364	+	Missense_Mutation	SNP	C	C	T	rs573668110		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr8:18725364C>T	ENST00000327040.8	-	4	1556	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	PSD3_ENST00000523619.1_Missense_Mutation_p.R420H|PSD3_ENST00000440756.2_Missense_Mutation_p.R485H	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	485					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.R485H(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCTTTAATGCGCTGTTGTAT	0.463													C|||	1	0.000199681	0.0	0.0	5008	,	,		17581	0.0		0.0	False		,,,				2504	0.001					uc003wza.2		NA																	1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(1453-1455)CGC>CAC		ADP-ribosylation factor guanine nucleotide							210.0	203.0	205.0					8																	18725364		2049	4206	6255	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18725364C>T	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.1454G>A	8.37:g.18725364C>T	ENSP00000324127:p.Arg485His						p.R485H	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	4	1557	-			485					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.1454G>A	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	C	23.7	4.450674	0.84101	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000523619	T;T;T	0.18810	2.22;2.21;2.19	5.28	5.28	0.74379	.	0.000000	0.64402	D	0.000005	T	0.32645	0.0836	L	0.32530	0.975	0.41505	D	0.988308	D	0.71674	0.998	P	0.59056	0.851	T	0.04005	-1.0985	10	0.87932	D	0	.	16.7614	0.85513	0.0:1.0:0.0:0.0	.	485	E9KL50	.	H	485;485;420	ENSP00000324127:R485H;ENSP00000401704:R485H;ENSP00000430640:R420H	ENSP00000324127:R485H	R	-	2	0	PSD3	18769644	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.289000	0.65656	2.637000	0.89404	0.585000	0.79938	CGC		0.463	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		45	154	0	0	0	0	45	154				
KAT6A	7994	broad.mit.edu	37	8	41791631	41791631	+	Silent	SNP	G	G	A	rs371651920		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr8:41791631G>A	ENST00000396930.3	-	18	4650	c.4107C>T	c.(4105-4107)acC>acT	p.T1369T	KAT6A_ENST00000406337.1_Silent_p.T1369T|KAT6A_ENST00000265713.2_Silent_p.T1369T	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1369					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										AATCCAGCTCGGTTTCCTCTT	0.502													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20934	0.0		0.0	False		,,,				2504	0.0					uc010lxb.2		NA																	0				ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1)	7						c.(4105-4107)ACC>ACT		MYST histone acetyltransferase (monocytic		G	,,	0,4406		0,0,2203	140.0	131.0	134.0		4107,4107,4107	-9.4	0.2	8		134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	KAT6A	NM_001099412.1,NM_001099413.1,NM_006766.3	,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,	1369/2005,1369/2005,1369/2005	41791631	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7994				histone H3 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|nucleosome assembly|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|nucleosome	DNA binding|histone acetyltransferase activity|transcription coactivator activity|transcription factor binding|zinc ion binding	g.chr8:41791631G>A	U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4107C>T	8.37:g.41791631G>A						MYST3_uc010lxc.2_Silent_p.T1369T|MYST3_uc003xon.3_Silent_p.T1369T	p.T1369T	NM_001099412	NP_001092882	Q92794	MYST3_HUMAN	Epithelial(1;2.82e-19)|all cancers(1;1.15e-16)|BRCA - Breast invasive adenocarcinoma(8;9.17e-11)|OV - Ovarian serous cystadenocarcinoma(14;9.4e-05)|Colorectal(10;0.000728)|Lung(22;0.00153)|LUSC - Lung squamous cell carcinoma(45;0.00741)|COAD - Colon adenocarcinoma(11;0.0171)		18	4651	-	all_epithelial(6;1.12e-27)|all_lung(13;3.94e-12)|Lung NSC(13;6.54e-11)|Ovarian(28;0.00744)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000294)|Lung NSC(58;0.00105)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	1369					Q76L81	Silent	SNP	ENST00000396930.3	37	c.4107C>T	CCDS6124.1																																																																																				0.502	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318163.1	NM_006766		15	93	0	0	0	0	15	93				
DENND4C	55667	broad.mit.edu	37	9	19346744	19346744	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:19346744C>G	ENST00000380432.2	+	18	3155	c.3122C>G	c.(3121-3123)tCa>tGa	p.S1041*	DENND4C_ENST00000602925.1_Nonsense_Mutation_p.S1277*|DENND4C_ENST00000434457.2_Nonsense_Mutation_p.S1326*			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1041					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAGAGGAGATCAAGCCTACCT	0.433																																						uc003znq.2		NA																	0				ovary(1)|skin(1)	2						c.(3121-3123)TCA>TGA		DENN/MADD domain containing 4C							108.0	108.0	108.0					9																	19346744		2203	4300	6503	SO:0001587	stop_gained	55667					integral to membrane		g.chr9:19346744C>G	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.3122C>G	9.37:g.19346744C>G	ENSP00000369797:p.Ser1041*					DENND4C_uc011lnc.1_Nonsense_Mutation_p.S371*|DENND4C_uc011lnd.1_Nonsense_Mutation_p.S329*|DENND4C_uc003znr.2_Nonsense_Mutation_p.S329*|DENND4C_uc003zns.2_Nonsense_Mutation_p.S223*|DENND4C_uc003znt.2_Nonsense_Mutation_p.S223*	p.S1041*	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN			18	3155	+			1041					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Nonsense_Mutation	SNP	ENST00000380432.2	37	c.3122C>G		.	.	.	.	.	.	.	.	.	.	C	35	5.557315	0.96514	.	.	ENSG00000137145	ENST00000380437;ENST00000307015;ENST00000453857;ENST00000540671;ENST00000380432;ENST00000380427;ENST00000361024	.	.	.	5.62	5.62	0.85841	.	3.411840	0.00633	N	0.000482	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-5.147	19.6664	0.95894	0.0:1.0:0.0:0.0	.	.	.	.	X	1041;514;223;371;514;223;38	.	ENSP00000305795:S514X	S	+	2	0	DENND4C	19336744	1.000000	0.71417	1.000000	0.80357	0.675000	0.39556	4.263000	0.58853	2.646000	0.89796	0.585000	0.79938	TCA		0.433	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		12	93	0	0	0	0	12	93				
CDKN2A	1029	broad.mit.edu	37	9	21971120	21971120	+	Nonsense_Mutation	SNP	G	G	A	rs121913388		TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:21971120G>A	ENST00000304494.5	-	2	508	c.238C>T	c.(238-240)Cga>Tga	p.R80*	CDKN2A_ENST00000530628.2_Missense_Mutation_p.P94L|CDKN2A_ENST00000579755.1_Missense_Mutation_p.P94L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000361570.3_Missense_Mutation_p.P135L|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.R80*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.R80*|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.R29*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.R80*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	80			R -> L (in a head and neck tumor).|R -> P (in CMM2; loss of CDK4 binding). {ECO:0000269|PubMed:19260062}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.R80*(100)|p.?(44)|p.P135L(7)|p.L65fs*38(1)|p.T79fs*37(1)|p.0(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCACGGGTCGGGTGAGAGTG	0.726	R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)|R80*(MEWO_SKIN)	17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2	R80*(MEWO_SKIN)|R80*(HSC4_UPPER_AERODIGESTIVE_TRACT)	17																	1474	Whole gene deletion(1316)|Substitution - Nonsense(100)|Unknown(44)|Substitution - Missense(7)|Deletion - Frameshift(6)|Deletion - In frame(1)	p.0?(1112)|p.R80*(88)|p.?(13)|p.R80Q(2)|p.P135L(2)|p.T79fs*37(1)|p.L65fs*38(1)|p.R80fs*66(1)|p.A76fs*64(1)|p.T79fs*65(1)|p.E61_L94del(1)|p.A68fs*3(1)|p.R80fs*34(1)|p.R80?(1)|p.R80L(1)	haematopoietic_and_lymphoid_tissue(298)|skin(206)|central_nervous_system(168)|lung(150)|urinary_tract(91)|bone(76)|oesophagus(72)|upper_aerodigestive_tract(63)|soft_tissue(60)|pleura(51)|pancreas(37)|ovary(36)|kidney(32)|breast(32)|biliary_tract(16)|thyroid(15)|NS(14)|stomach(14)|large_intestine(7)|autonomic_ganglia(7)|meninges(7)|liver(6)|salivary_gland(4)|thymus(4)|vulva(3)|endometrium(3)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CM014695	CDKN2A	M	rs121913388	c.(238-240)CGA>TGA		cyclin-dependent kinase inhibitor 2A isoform 1							11.0	14.0	13.0					9																	21971120		2172	4246	6418	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971120G>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.238C>T	9.37:g.21971120G>A	ENSP00000307101:p.Arg80*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_Missense_Mutation_p.P135L	p.R80*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	450	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	80		R -> P (in CMM2; loss of CDK4 binding).|R -> L (in a head and neck tumor).	ANK 3.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.238C>T	CCDS6510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.328457|7.328457	0.98214|0.98214	.|.	.|.	ENSG00000147889|ENSG00000147889	ENST00000361570;ENST00000530628|ENST00000304494;ENST00000446177	D;D|.	0.86497|.	-2.13;-2.02|.	5.93|5.93	5.01|5.01	0.66863|0.66863	.|.	0.000000|.	0.37136|.	N|.	0.002233|.	T|.	0.44561|.	0.1299|.	L|L	0.36672|0.36672	1.1|1.1	0.47511|0.47511	D|D	0.999443|0.999443	D|.	0.59357|.	0.985|.	B|.	0.40602|.	0.334|.	T|.	0.34825|.	-0.9813|.	10|.	0.13108|0.02654	T|T	0.6|1	-2.989|-2.989	8.7197|8.7197	0.34434|0.34434	0.0759:0.0:0.7715:0.1526|0.0759:0.0:0.7715:0.1526	.|.	135|.	Q8N726|.	CD2A2_HUMAN|.	L|X	135;94|80	ENSP00000355153:P135L;ENSP00000432664:P94L|.	ENSP00000355153:P135L|ENSP00000307101:R80X	P|R	-|-	2|1	0|2	CDKN2A|CDKN2A	21961120|21961120	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.899000|0.899000	0.52679|0.52679	2.363000|2.363000	0.44178|0.44178	1.464000|1.464000	0.47987|0.47987	0.650000|0.650000	0.86243|0.86243	CCG|CGA		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		8	6	0	0	0	0	8	6				
KIF24	347240	broad.mit.edu	37	9	34290194	34290194	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:34290194C>T	ENST00000402558.2	-	4	1129	c.1105G>A	c.(1105-1107)Gac>Aac	p.D369N	KIF24_ENST00000379166.2_Missense_Mutation_p.D369N|KIF24_ENST00000379174.3_Intron|KIF24_ENST00000345050.2_Intron			Q5T7B8	KIF24_HUMAN	kinesin family member 24	369	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)	centriole (GO:0005814)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D369Y(1)		breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TTTAGGAGGTCATAAAGCTGT	0.413																																						uc003zua.3		NA																	1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(1105-1107)GAC>AAC		kinesin family member 24							101.0	95.0	97.0					9																	34290194		1848	4094	5942	SO:0001583	missense	347240				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr9:34290194C>T	AK001795	CCDS6551.2	9p13.3	2013-01-10			ENSG00000186638	ENSG00000186638		"""Kinesins"", ""Sterile alpha motif (SAM) domain containing"""	19916	protein-coding gene	gene with protein product		613747	"""chromosome 9 open reading frame 48"""	C9orf48		12477932	Standard	NM_194313		Approved	bA571F15.4, FLJ10933, FLJ43884	uc003zua.4	Q5T7B8	OTTHUMG00000019810	ENST00000402558.2:c.1105G>A	9.37:g.34290194C>T	ENSP00000384433:p.Asp369Asn					KIF24_uc010mkb.2_Missense_Mutation_p.D400N	p.D369N	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)		5	1225	-			369			Kinesin-motor.		Q2TB93|Q5T7B5|Q5T7B7|Q6ZU97|Q6ZUZ2|Q86XZ0|Q9NV43	Missense_Mutation	SNP	ENST00000402558.2	37	c.1105G>A	CCDS6551.2	.	.	.	.	.	.	.	.	.	.	C	34	5.346613	0.95807	.	.	ENSG00000186638	ENST00000402558;ENST00000379166;ENST00000420188	T;T	0.54866	0.55;0.55	5.58	5.58	0.84498	Kinesin, motor domain (4);	.	.	.	.	D	0.82944	0.5147	H	0.96916	3.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.88175	0.2867	9	0.66056	D	0.02	.	19.5687	0.95404	0.0:1.0:0.0:0.0	.	369;369	Q5T7B8-4;Q5T7B8	.;KIF24_HUMAN	N	369	ENSP00000384433:D369N;ENSP00000368464:D369N	ENSP00000368464:D369N	D	-	1	0	KIF24	34280194	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.805000	0.75191	2.640000	0.89533	0.491000	0.48974	GAC		0.413	KIF24-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052150.5			22	82	0	0	0	0	22	82				
RECK	8434	broad.mit.edu	37	9	36110025	36110025	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:36110025C>A	ENST00000377966.3	+	15	2403	c.1837C>A	c.(1837-1839)Cgc>Agc	p.R613S		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	613					blood vessel maturation (GO:0001955)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)	anchored component of membrane (GO:0031225)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.R613S(1)		cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GTGCTCTACCCGCCTTTGCCT	0.473																																						uc003zyv.2		NA																	1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(1837-1839)CGC>AGC		RECK protein precursor							275.0	216.0	236.0					9																	36110025		2203	4300	6503	SO:0001583	missense	8434					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity	g.chr9:36110025C>A	E13833	CCDS6597.1	9p13.3	2008-05-15			ENSG00000122707	ENSG00000122707			11345	protein-coding gene	gene with protein product		605227		ST15		9789069	Standard	NM_021111		Approved	hRECK	uc003zyv.3	O95980	OTTHUMG00000019898	ENST00000377966.3:c.1837C>A	9.37:g.36110025C>A	ENSP00000367202:p.Arg613Ser					RECK_uc003zyw.2_Missense_Mutation_p.R485S|RECK_uc003zyx.2_RNA	p.R613S	NM_021111	NP_066934	O95980	RECK_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)		15	1923	+			613					B2RNS1|Q5W0K6|Q8WX37	Missense_Mutation	SNP	ENST00000377966.3	37	c.1837C>A	CCDS6597.1	.	.	.	.	.	.	.	.	.	.	C	31	5.066562	0.93898	.	.	ENSG00000122707	ENST00000377966	T	0.48836	0.8	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.59555	0.2202	L	0.58101	1.795	0.49130	D	0.999758	D;D	0.57899	0.981;0.981	P;P	0.54815	0.761;0.761	T	0.60637	-0.7224	10	0.56958	D	0.05	-20.751	17.0786	0.86592	0.0:1.0:0.0:0.0	.	613;613	A8K9D8;O95980	.;RECK_HUMAN	S	613	ENSP00000367202:R613S	ENSP00000367202:R613S	R	+	1	0	RECK	36100025	0.998000	0.40836	0.998000	0.56505	0.942000	0.58702	4.018000	0.57174	2.711000	0.92665	0.655000	0.94253	CGC		0.473	RECK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052409.1			6	153	1	0	0.00198382	0.00932875	6	153				
IARS	3376	broad.mit.edu	37	9	95043159	95043159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:95043159G>A	ENST00000375643.3	-	7	880	c.614C>T	c.(613-615)tCa>tTa	p.S205L	IARS_ENST00000443024.2_Missense_Mutation_p.S205L|IARS_ENST00000375629.3_5'UTR|IARS_ENST00000447699.2_Missense_Mutation_p.S95L	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	205					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|osteoblast differentiation (GO:0001649)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	TACAAATACTGAAGGATCTTG	0.368																																						uc004art.1		NA																	0				ovary(1)|skin(1)	2						c.(613-615)TCA>TTA		isoleucine tRNA synthetase	L-Isoleucine(DB00167)						71.0	65.0	67.0					9																	95043159		2203	4300	6503	SO:0001583	missense	3376				isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding	g.chr9:95043159G>A	AB209234	CCDS6694.1	9q21	2011-07-01	2007-02-26		ENSG00000196305	ENSG00000196305	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	5330	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 1, cytoplasmic"""	600709				8812440	Standard	NM_002161		Approved	ILRS, IARS1	uc004aru.4	P41252	OTTHUMG00000020219	ENST00000375643.3:c.614C>T	9.37:g.95043159G>A	ENSP00000364794:p.Ser205Leu					IARS_uc004ars.1_Missense_Mutation_p.S50L|IARS_uc004aru.3_Missense_Mutation_p.S205L|IARS_uc010mqr.2_Missense_Mutation_p.S95L|IARS_uc010mqt.2_Intron	p.S205L	NM_013417	NP_038203	P41252	SYIC_HUMAN			7	871	-			205					A8KAE9|Q5TCD0|Q7Z3T4|Q9H588	Missense_Mutation	SNP	ENST00000375643.3	37	c.614C>T	CCDS6694.1	.	.	.	.	.	.	.	.	.	.	G	32	5.130314	0.94473	.	.	ENSG00000196305	ENST00000375643;ENST00000443024;ENST00000447699;ENST00000375660;ENST00000395554	T;T;T;T	0.35236	1.32;1.32;1.32;1.32	5.41	5.41	0.78517	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.000000	0.85682	D	0.000000	T	0.71953	0.3401	H	0.99090	4.425	0.80722	D	1	P;P	0.51933	0.898;0.949	P;P	0.53146	0.719;0.719	D	0.84932	0.0860	10	0.87932	D	0	-12.3831	18.3243	0.90248	0.0:0.0:1.0:0.0	.	205;50	P41252;Q6P0M4	SYIC_HUMAN;.	L	205;205;95;205;205	ENSP00000364794:S205L;ENSP00000406448:S205L;ENSP00000415020:S95L;ENSP00000378922:S205L	ENSP00000364794:S205L	S	-	2	0	IARS	94082980	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.573000	0.98181	2.686000	0.91538	0.655000	0.94253	TCA		0.368	IARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053059.2	NM_002161		5	35	0	0	0	0	5	35				
CTNNAL1	8727	broad.mit.edu	37	9	111745573	111745573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:111745573C>T	ENST00000325551.4	-	6	838	c.752G>A	c.(751-753)tGc>tAc	p.C251Y	CTNNAL1_ENST00000325580.6_Missense_Mutation_p.C251Y|CTNNAL1_ENST00000374595.4_Missense_Mutation_p.C251Y	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	251					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GGCTGATTCGCAGTTAGGATG	0.338																																						uc004bdo.1		NA																	0				ovary(1)	1						c.(751-753)TGC>TAC		catenin, alpha-like 1							142.0	127.0	132.0					9																	111745573		2203	4300	6503	SO:0001583	missense	8727				cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity	g.chr9:111745573C>T	AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.752G>A	9.37:g.111745573C>T	ENSP00000320434:p.Cys251Tyr					CTNNAL1_uc010mts.1_5'UTR|CTNNAL1_uc010mtt.1_Missense_Mutation_p.C251Y|CTNNAL1_uc004bdp.1_Missense_Mutation_p.C251Y	p.C251Y	NM_003798	NP_003789	Q9UBT7	CTNL1_HUMAN		STAD - Stomach adenocarcinoma(157;0.0768)	6	794	-			251					B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	ENST00000325551.4	37	c.752G>A	CCDS6775.1	.	.	.	.	.	.	.	.	.	.	C	18.53	3.643339	0.67244	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.43294	0.95;0.95;0.95	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	T	0.67477	0.2897	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.64601	-0.6369	10	0.37606	T	0.19	-1.3553	18.015	0.89236	0.0:1.0:0.0:0.0	.	251;251;251	B2RBI4;Q9UBT7-2;Q9UBT7	.;.;CTNL1_HUMAN	Y	251	ENSP00000363723:C251Y;ENSP00000320434:C251Y;ENSP00000323351:C251Y	ENSP00000320434:C251Y	C	-	2	0	CTNNAL1	110785394	1.000000	0.71417	0.992000	0.48379	0.947000	0.59692	7.792000	0.85828	2.861000	0.98227	0.650000	0.86243	TGC		0.338	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053577.1	NM_003798		10	41	0	0	0	0	10	41				
OLFM1	10439	broad.mit.edu	37	9	138011897	138011897	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr9:138011897A>G	ENST00000371793.3	+	6	1582	c.1331A>G	c.(1330-1332)aAc>aGc	p.N444S	OLFM1_ENST00000371796.3_Missense_Mutation_p.N417S|OLFM1_ENST00000252854.4_Missense_Mutation_p.N426S	NM_001282611.1	NP_001269540.1	Q99784	NOE1_HUMAN	olfactomedin 1	444	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of neuron migration (GO:2001223)|nervous system development (GO:0007399)|protein oligomerization (GO:0051259)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CCATTCCAGAACAAATACTCC	0.537																																						uc010nar.2		NA																	0				ovary(1)|skin(1)	2						c.(1330-1332)AAC>AGC		olfactomedin related ER localized protein							143.0	129.0	133.0					9																	138011897		2203	4300	6503	SO:0001583	missense	10439				nervous system development	endoplasmic reticulum lumen	protein binding	g.chr9:138011897A>G	AF035301	CCDS6986.1, CCDS6987.1, CCDS65183.1, CCDS65184.1	9q34.3	2014-01-20			ENSG00000130558	ENSG00000130558			17187	protein-coding gene	gene with protein product	"""pancortin"""	605366				9039501	Standard	NM_006334		Approved	NOE1, OlfA, AMY, NOELIN	uc004cfl.4	Q99784	OTTHUMG00000020897	ENST00000371793.3:c.1331A>G	9.37:g.138011897A>G	ENSP00000360858:p.Asn444Ser					OLFM1_uc004cfl.3_Missense_Mutation_p.N426S|OLFM1_uc004cfn.3_Missense_Mutation_p.N195S	p.N444S	NM_014279	NP_055094	Q99784	NOE1_HUMAN		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)	6	1647	+		Myeloproliferative disorder(178;0.0333)	444			Olfactomedin-like.		Q53XZ8|Q6IMJ4|Q6IMJ5|Q8N8R0|Q969S7|Q99452	Missense_Mutation	SNP	ENST00000371793.3	37	c.1331A>G		.	.	.	.	.	.	.	.	.	.	A	21.0	4.089352	0.76756	.	.	ENSG00000130558	ENST00000252854;ENST00000371796;ENST00000371793	D;D;D	0.90324	-2.65;-2.65;-2.65	4.94	4.94	0.65067	Olfactomedin-like (3);Quinonprotein alcohol dehydrogenase-like (1);	0.000000	0.85682	D	0.000000	D	0.95143	0.8426	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.992;0.999	D	0.95763	0.8802	10	0.87932	D	0	.	14.6023	0.68450	1.0:0.0:0.0:0.0	.	444;426	Q99784;Q6IMJ8	NOE1_HUMAN;.	S	426;417;444	ENSP00000252854:N426S;ENSP00000360861:N417S;ENSP00000360858:N444S	ENSP00000252854:N426S	N	+	2	0	OLFM1	137151718	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.060000	0.93907	1.862000	0.54008	0.459000	0.35465	AAC		0.537	OLFM1-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000054974.1	NM_014279		13	82	0	0	0	0	13	82				
RS1	6247	broad.mit.edu	37	X	18662590	18662590	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:18662590A>C	ENST00000379984.3	-	5	522	c.482T>G	c.(481-483)cTg>cGg	p.L161R	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	161	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)			cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AATCCAGTTCAGGCGCTCATC	0.532																																						uc004cyo.2		NA																	0				ovary(2)	2						c.(481-483)CTG>CGG		X-linked juvenile retinoschisis protein							167.0	130.0	142.0					X																	18662590		2203	4300	6503	SO:0001583	missense	6247				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space		g.chrX:18662590A>C	AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.482T>G	X.37:g.18662590A>C	ENSP00000369320:p.Leu161Arg					CDKL5_uc004cym.2_Intron|CDKL5_uc004cyn.2_Intron	p.L161R	NM_000330	NP_000321	O15537	XLRS1_HUMAN			5	517	-	Hepatocellular(33;0.183)		161			F5/8 type C.		Q0QD39	Missense_Mutation	SNP	ENST00000379984.3	37	c.482T>G	CCDS14187.1	.	.	.	.	.	.	.	.	.	.	a	22.6	4.315631	0.81469	.	.	ENSG00000102104	ENST00000379984	D	0.98105	-4.72	4.91	3.76	0.43208	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.129082	0.50627	D	0.000110	D	0.96043	0.8711	N	0.25647	0.755	0.53688	D	0.999971	P	0.51537	0.946	P	0.58454	0.839	D	0.93511	0.6853	10	0.19147	T	0.46	.	10.1874	0.43006	0.9161:0.0:0.0838:0.0	.	161	O15537	XLRS1_HUMAN	R	161	ENSP00000369320:L161R	ENSP00000369320:L161R	L	-	2	0	RS1	18572511	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.643000	0.67895	1.926000	0.55796	0.478000	0.44815	CTG		0.532	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055949.1			6	95	0	0	0	0	6	95				
FAM47A	158724	broad.mit.edu	37	X	34149003	34149003	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:34149003C>T	ENST00000346193.3	-	1	1444	c.1393G>A	c.(1393-1395)Gaa>Aaa	p.E465K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	465										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCAGGGTTCCCCACAAGGG	0.602																																						uc004ddg.2		NA																	0				ovary(4)|central_nervous_system(1)	5						c.(1393-1395)GAA>AAA		hypothetical protein LOC158724							45.0	51.0	49.0					X																	34149003		2108	4218	6326	SO:0001583	missense	158724							g.chrX:34149003C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1393G>A	X.37:g.34149003C>T	ENSP00000345029:p.Glu465Lys						p.E465K	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1426	-			465					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1393G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	9.251	1.040857	0.19669	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	0.8	-0.257	0.12979	.	.	.	.	.	T	0.14485	0.0350	L	0.43152	1.355	0.09310	N	1	P	0.42248	0.774	B	0.39299	0.296	T	0.21177	-1.0253	8	0.20519	T	0.43	.	.	.	.	.	465	Q5JRC9	FA47A_HUMAN	K	465	ENSP00000345029:E465K	ENSP00000345029:E465K	E	-	1	0	FAM47A	34058924	0.000000	0.05858	0.001000	0.08648	0.089000	0.18198	-0.605000	0.05661	-0.174000	0.10743	0.183000	0.17082	GAA		0.602	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		13	45	0	0	0	0	13	45				
MED12	9968	broad.mit.edu	37	X	70342193	70342193	+	Silent	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:70342193G>A	ENST00000374080.3	+	8	1277	c.1245G>A	c.(1243-1245)caG>caA	p.Q415Q	MED12_ENST00000374102.1_Silent_p.Q415Q|MED12_ENST00000333646.6_Silent_p.Q415Q			Q93074	MED12_HUMAN	mediator complex subunit 12	415					androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCTTCACTCAGCAGGTATGTC	0.483			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															uc004dyy.2		NA		Dom	yes		X	Xq13	9968		mediator complex subunit 12	Yes		M					0				ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(1243-1245)CAG>CAA		mediator complex subunit 12							105.0	93.0	97.0					X																	70342193		2018	4160	6178	SO:0001819	synonymous_variant	9968				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	g.chrX:70342193G>A	U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.1245G>A	X.37:g.70342193G>A						MED12_uc011mpq.1_Silent_p.Q415Q|MED12_uc004dyz.2_Silent_p.Q415Q|MED12_uc004dza.2_Silent_p.Q262Q	p.Q415Q	NM_005120	NP_005111	Q93074	MED12_HUMAN			8	1444	+	Renal(35;0.156)		415					O15410|O75557|Q9UHV6|Q9UND7	Silent	SNP	ENST00000374080.3	37	c.1245G>A	CCDS43970.1																																																																																				0.483	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057105.1	NM_005120		17	39	0	0	0	0	17	39				
NRK	203447	broad.mit.edu	37	X	105183934	105183934	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:105183934G>A	ENST00000243300.9	+	23	4171	c.3868G>A	c.(3868-3870)Gaa>Aaa	p.E1290K	NRK_ENST00000428173.2_Missense_Mutation_p.E1291K	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	1290	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TAATGATCCAGAAAGTAAAAG	0.378										HNSCC(51;0.14)																												uc004emd.2		NA																	0				breast(7)|ovary(3)|lung(2)|large_intestine(1)|central_nervous_system(1)	14						c.(3868-3870)GAA>AAA		Nik related kinase							61.0	56.0	57.0					X																	105183934		1842	4085	5927	SO:0001583	missense	203447						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chrX:105183934G>A	BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.3868G>A	X.37:g.105183934G>A	ENSP00000434830:p.Glu1290Lys	HNSCC(51;0.14)				NRK_uc010npc.1_Missense_Mutation_p.E958K	p.E1290K	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN			23	4171	+			1290			CNH.		Q32ND6|Q5H9K2|Q6ZMP2	Missense_Mutation	SNP	ENST00000243300.9	37	c.3868G>A		.	.	.	.	.	.	.	.	.	.	G	15.72	2.915921	0.52546	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	T;T	0.04406	3.63;3.63	5.78	3.98	0.46160	Citron-like (2);	0.608677	0.14721	N	0.302341	T	0.04815	0.0130	L	0.28400	0.85	0.80722	D	1	B;B	0.21147	0.052;0.005	B;B	0.20767	0.018;0.031	T	0.37776	-0.9691	10	0.46703	T	0.11	.	9.4302	0.38606	0.0777:0.0:0.7799:0.1425	.	958;1290	Q7Z2Y5-2;Q7Z2Y5	.;NRK_HUMAN	K	1290;1291	ENSP00000434830:E1290K;ENSP00000438378:E1291K	ENSP00000434830:E1290K	E	+	1	0	NRK	105070590	1.000000	0.71417	0.995000	0.50966	0.972000	0.66771	5.052000	0.64263	0.558000	0.29135	0.544000	0.68410	GAA		0.378	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000106480.6	NM_198465		4	14	0	0	0	0	4	14				
IRS4	8471	broad.mit.edu	37	X	107979141	107979141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:107979141C>T	ENST00000372129.2	-	1	510	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	145	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GATCACGCGCCGCGGTGGAAT	0.632																																						uc004eoc.2		NA																	0				ovary(4)|large_intestine(2)|lung(1)|breast(1)|skin(1)|pancreas(1)	10						c.(433-435)CGG>CAG		insulin receptor substrate 4							35.0	31.0	33.0					X																	107979141		2203	4299	6502	SO:0001583	missense	8471					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	g.chrX:107979141C>T	AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.434G>A	X.37:g.107979141C>T	ENSP00000361202:p.Arg145Gln						p.R145Q	NM_003604	NP_003595	O14654	IRS4_HUMAN			1	467	-			145			PH.			Missense_Mutation	SNP	ENST00000372129.2	37	c.434G>A	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	C	17.63	3.437645	0.62955	.	.	ENSG00000133124	ENST00000372129	T	0.71817	-0.6	4.02	3.05	0.35203	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.078005	0.50627	D	0.000112	T	0.44726	0.1307	L	0.27053	0.805	0.26855	N	0.968086	P	0.44946	0.846	B	0.30251	0.113	T	0.52449	-0.8574	10	0.72032	D	0.01	-10.5009	3.1245	0.06402	0.0:0.515:0.0:0.485	.	145	O14654	IRS4_HUMAN	Q	145	ENSP00000361202:R145Q	ENSP00000361202:R145Q	R	-	2	0	IRS4	107865797	0.838000	0.29461	0.900000	0.35374	0.009000	0.06853	2.206000	0.42779	1.866000	0.54105	0.529000	0.55759	CGG		0.632	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604		7	35	0	0	0	0	7	35				
TMEM187	8269	broad.mit.edu	37	X	153247752	153247752	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chrX:153247752T>C	ENST00000369982.4	+	2	986	c.239T>C	c.(238-240)cTg>cCg	p.L80P	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	80						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGATGGGGCTGGGTCCCCGC	0.692																																						uc004fjq.2		NA																	0					0						c.(238-240)CTG>CCG		transmembrane protein 187							33.0	28.0	30.0					X																	153247752		2200	4296	6496	SO:0001583	missense	8269					integral to membrane|transport vesicle		g.chrX:153247752T>C	X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.239T>C	X.37:g.153247752T>C	ENSP00000358999:p.Leu80Pro					hsa-mir-3202-2|MI0014253_5'Flank	p.L80P	NM_003492	NP_003483	Q14656	TM187_HUMAN			2	773	+	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		80					B2RC47|Q6IAV7	Missense_Mutation	SNP	ENST00000369982.4	37	c.239T>C	CCDS14739.1	.	.	.	.	.	.	.	.	.	.	T	4.922	0.171258	0.09391	.	.	ENSG00000177854	ENST00000369982	T	0.21543	2.0	3.71	-7.42	0.01388	.	5.520620	0.01459	N	0.015808	T	0.03220	0.0094	N	0.00075	-2.25	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42189	-0.9466	10	0.30078	T	0.28	.	1.6634	0.02796	0.3121:0.3673:0.1481:0.1725	.	80	Q14656	TM187_HUMAN	P	80	ENSP00000358999:L80P	ENSP00000358999:L80P	L	+	2	0	TMEM187	152900946	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.889000	0.04144	-2.614000	0.00443	-1.354000	0.01226	CTG		0.692	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061093.1	NM_003492		7	24	0	0	0	0	7	24				
OSGEPL1	64172	broad.mit.edu	37	2	190619979	190619982	+	Frame_Shift_Del	DEL	ACAG	ACAG	-			TCGA-CV-6953-01A-11D-1912-08	TCGA-CV-6953-10A-01D-1912-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	fb79f2be-3dec-4b5a-b5f3-e29e0fb05a98	a4236b26-0102-4650-b659-45cb5f0a61d9	g.chr2:190619979_190619982delACAG	ENST00000264151.5	-	3	628_631	c.526_529delCTGT	c.(526-531)ctgttgfs	p.LL176fs	Y_RNA_ENST00000411317.1_RNA|OSGEPL1_ENST00000519810.1_Frame_Shift_Del_p.LL176fs|OSGEPL1_ENST00000522700.1_Frame_Shift_Del_p.LL176fs	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1											large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			ACTAATGCCAACAGACAGTGACCT	0.368																																						uc002uqz.1		NA																	0					0						c.(526-531)CTGTTGfs		O-sialoglycoprotein endopeptidase-like 1																																				SO:0001589	frameshift_variant	64172				proteolysis|tRNA processing		metalloendopeptidase activity	g.chr2:190619979_190619982delACAG	AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.526_529delCTGT	2.37:g.190619983_190619986delACAG	ENSP00000264151:p.Leu176fs					OSGEPL1_uc002ura.1_RNA|OSGEPL1_uc010zfy.1_Frame_Shift_Del_p.L176fs	p.L176fs	NM_022353	NP_071748	Q9H4B0	OSGP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)		3	1060_1063	-			176_177						Frame_Shift_Del	DEL	ENST00000264151.5	37	c.526_529delCTGT	CCDS46472.1																																																																																				0.368	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377257.1	NM_022353		19	84	NA	NA	NA	NA	19	84	---	---	---	---
