#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	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_Description	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_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_AccessionNumbers	i_HGNC_CCDS IDs	i_HGNC_CCDSIDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_DateModified	i_HGNC_DateNameChanged	i_HGNC_DateSymbolChanged	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_EnsemblGeneID	i_HGNC_EnsemblIDsuppliedbyEnsembl	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_Genefamilydescription	i_HGNC_HGNC ID	i_HGNC_HGNCID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_LocusGroup	i_HGNC_LocusType	i_HGNC_Name Synonyms	i_HGNC_NameSynonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_OMIMIDsuppliedbyNCBI	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_PreviousNames	i_HGNC_PreviousSymbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_PubmedIDs	i_HGNC_Record Type	i_HGNC_RecordType	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_RefSeqsuppliedbyNCBI	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UCSCIDsuppliedbyUCSC	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_UniProtIDsuppliedbyUniProt	i_HGNC_VEGA IDs	i_HGNC_VEGAIDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	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_Region	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_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_folddegenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_hg18_pos1coor	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_init_n_lod	i_init_t_lod	i_n_alt_count	i_n_alt_count_full	i_n_ref_count	i_n_ref_count_full	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_lod_fstar	i_t_lod_fstar_full	i_t_ref_count_full	i_tumor_f_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	tumor_f
TRIM62	55223	broad.mit.edu	37	1	33612880	33612880	+	Silent	SNP	G	G	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr1:33612880G>A	ENST00000291416.5	-	5	1559	c.1326C>T	c.(1324-1326)cgC>cgT	p.R442R	TRIM62_ENST00000543586.1_Silent_p.R321R	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	442	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGAACTTCTCGCGGAAGGTGT	0.557																																						ENST00000291416.5											0			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1324-1326)cgC>cgT	tripartite motif containing 62						108.0	95.0	99.0					1																	33612880		2203	4300	6503	SO:0001819	synonymous_variant	55223				intracellular	zinc ion binding	g.chr1:33612880G>A	BC007999	BC007999	CCDS376.1	CCDS376.1	1p35.1	2013-10-11	2011-01-25		2013-10-11	2011-01-25		ENSG00000116525	ENSG00000116525	ENSG00000116525	ENSG00000116525		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	25574	25574	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""ductal epithelium-associated RING Chromosome 1"""	"""ductal epithelium-associated RING Chromosome 1"""			"""tripartite motif-containing 62"""		"""tripartite motif-containing 62"""			19536326	19536326	Standard	Standard	NM_018207	NM_018207		Approved	FLJ10759, DEAR1	uc001bxb.3	uc001bxb.3	Q9BVG3	Q9BVG3	OTTHUMG00000004132	OTTHUMG00000004132	ENST00000291416.5:c.1326C>T	1.37:g.33612880G>A			TRIM62_ENST00000543586.1_Silent_p.R321R	p.R442R	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN			5	1559	-		Myeloproliferative disorder(586;0.0393)	442	B30.2/SPRY.	B3KVH5|B4DTE4|D3DPR1|Q9NVG0	Silent	SNP	ENST00000291416.5	37	c.1326C>T	CCDS376.1																																																																																									0.557	TRIM62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011890.1		59.187085	-2	-2	60	60	NM_018207		20	59.478982	59.478982	28	0.416667	0	0	0	1	0	20	28	0.416667
FANCD2	2177	broad.mit.edu	37	3	10140562	10140562	+	Intron	SNP	T	T	C			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr3:10140562T>C	ENST00000419585.1	+	43	4442				FANCD2_ENST00000383807.1_Intron|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000287647.3_Silent_p.S1448S			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTGTTCTAAGTTGGTGGAGCA	0.423			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000287647.3	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51						c.(4342-4344)agT>agC	Fanconi anemia, complementation group D2						186.0	169.0	175.0					3																	10140562		2203	4300	6503	SO:0001627	intron_variant	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|response to gamma radiation	nucleoplasm	protein binding	g.chr3:10140562T>C	AF340183	AF340183	CCDS2595.1, CCDS33696.1	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	"""Fanconi anemia, complementation groups"""	3585	3585	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			613984	613984		FACD, FANCD		FACD, FANCD		7581463, 11239453, 18475298	7581463, 11239453, 18475298	Standard	Standard	XM_005264946	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	uc003buw.3	Q9BXW9	Q9BXW9	OTTHUMG00000128670	OTTHUMG00000128670	ENST00000419585.1:c.4281+63T>C	3.37:g.10140562T>C			FANCD2_ENST00000383807.1_Intron|FANCD2_ENST00000383806.1_Intron|FANCD2_ENST00000419585.1_Intron|FANCD2OS_ENST00000524279.1_Intron	p.S1448S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.148)	43	4437	+			1448		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Silent	SNP	ENST00000419585.1	37	c.4344T>C	CCDS33696.1																																																																																									0.423	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339873.1		91.392936	-18	-18	100	100			28	91.722533	91.722533	38	0.424242	0	0	0	1	0	28	38	0.424242
WISP1	8840	broad.mit.edu	37	8	134239886	134239886	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr8:134239886G>A	ENST00000250160.6	+	5	1143	c.1037G>A	c.(1036-1038)tGt>tAt	p.C346Y	WISP1_ENST00000517423.1_3'UTR|WISP1_ENST00000377863.2_Missense_Mutation_p.C174Y|WISP1_ENST00000519433.1_Missense_Mutation_p.C101Y|WISP1-UT1_ENST00000602893.1_RNA|WISP1_ENST00000220856.6_Missense_Mutation_p.C259Y	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	346	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039}.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AACCTGAGCTGTAGGAATCCC	0.493																																						ENST00000250160.6											0			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21						c.(1036-1038)tGt>tAt	WNT1 inducible signaling pathway protein 1						156.0	124.0	135.0					8																	134239886		2203	4300	6503	SO:0001583	missense	8840			cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding	g.chr8:134239886G>A	AF100779	AF100779	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	CCDS6371.1, CCDS6372.1, CCDS56555.1, CCDS56556.1	8q24.22	2007-05-14			2007-05-14			ENSG00000104415	ENSG00000104415	ENSG00000104415	ENSG00000104415				12769	12769	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603398	603398						9843955	9843955	Standard	Standard	NM_003882	NM_003882		Approved	CCN4	uc003yub.3	uc003yub.3	O95388	O95388	OTTHUMG00000164440	OTTHUMG00000164440	ENST00000250160.6:c.1037G>A	8.37:g.134239886G>A	ENSP00000250160:p.Cys346Tyr		WISP1_ENST00000377863.2_Missense_Mutation_p.C174Y|WISP1_ENST00000519433.1_Missense_Mutation_p.C101Y|WISP1_ENST00000220856.6_Missense_Mutation_p.C259Y|WISP1_ENST00000517423.1_3'UTR	p.C346Y	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0107)		5	1143	+	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		346	CTCK.	A8KAG6|E7EMM5|Q5JBS6|Q5JBS7|Q5JBS8|Q9HCS3	Missense_Mutation	SNP	ENST00000250160.6	37	c.1037G>A	CCDS6371.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.730316	0.89390	.	.	ENSG00000104415	ENST00000250160;ENST00000519433;ENST00000377863;ENST00000220856	D;D;D;D	0.98280	-4.84;-4.84;-4.84;-4.84	5.93	5.93	0.95920	5.93	5.93	0.95920	Cystine knot (1);Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99184	0.9717	M	0.89534	3.04	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;1.0	D	0.99505	1.0954	10	0.87932	D	0	-26.2814	19.3291	0.94278	0.0:0.0:1.0:0.0	.	101;174;259;346	O95388-3;Q5JBS7;O95388-2;O95388	.;.;.;WISP1_HUMAN	Y	346;101;174;259	ENSP00000250160:C346Y;ENSP00000429185:C101Y;ENSP00000367094:C174Y;ENSP00000220856:C259Y	ENSP00000220856:C259Y	C	+	2	0	0	WISP1	134309068	134309068	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.773000	0.98989	2.814000	0.96858	0.655000	0.94253	TGT		0.493	WISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378794.2		54.474395	-24	-24	57	57	NM_003882		20	56.478725	56.478725	44	0.312500	0	0	0	1	0	20	44	0.3125
ALDH2	217	broad.mit.edu	37	12	112230450	112230450	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr12:112230450G>C	ENST00000261733.2	+	9	1008	c.947G>C	c.(946-948)gGc>gCc	p.G316A	ALDH2_ENST00000416293.3_Missense_Mutation_p.G269A	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	316					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	TTCAACCAGGGCCAGTGCTGC	0.632			T	HMGA2	leiomyoma																																	ENST00000261733.2		Dom	yes		12	12q24.2	217	aldehyde dehydrogenase 2 family (mitochondrial)		M	0			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(946-948)gGc>gCc	aldehyde dehydrogenase 2 family (mitochondrial)						30.0	28.0	29.0					12																	112230450		2203	4300	6503	SO:0001583	missense	217			carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112230450G>C	M26760	M26760	CCDS9155.1, CCDS55885.1	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14			2007-12-14				ENSG00000111275		ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	"""Aldehyde dehydrogenases"""	404	404	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			100650	100650						4015823, 2987944	4015823, 2987944	Standard	Standard	NM_000690	NM_000690		Approved		uc001tst.3	uc001tst.3	P05091	P05091	OTTHUMG00000169603	OTTHUMG00000169603	ENST00000261733.2:c.947G>C	12.37:g.112230450G>C	ENSP00000261733:p.Gly316Ala		ALDH2_ENST00000416293.3_Missense_Mutation_p.G269A	p.G316A	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN			9	1008	+			316		B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Missense_Mutation	SNP	ENST00000261733.2	37	c.947G>C	CCDS9155.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.025251	0.75390	.	.	ENSG00000111275	ENST00000416293;ENST00000261733;ENST00000553044;ENST00000552234	T;T	0.65549	-0.16;-0.16	5.75	4.86	0.63082	5.75	4.86	0.63082	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);Aldehyde dehydrogenase, conserved site (1);	0.043918	0.85682	N	0.000000	D	0.88607	0.6482	H	0.99619	4.66	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.998;0.977;1.0	D	0.93524	0.6864	10	0.87932	D	0	.	14.979	0.71299	0.0684:0.0:0.9316:0.0	.	269;240;316	E7EUE5;F8VXI5;P05091	.;.;ALDH2_HUMAN	A	269;316;240;176	ENSP00000403349:G269A;ENSP00000261733:G316A	ENSP00000261733:G316A	G	+	2	0	0	ALDH2	110714833	110714833	1.000000	0.71417	1.000000	0.80357	0.512000	0.34134	9.363000	0.97131	1.435000	0.47434	0.655000	0.94253	GGC		0.632	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1		18.947008	1	1	18	18	NM_000690		6	19.078214	19.078214	9	0.400000	0	0	0	1	0	6	9	0.4
MSS51	118490	broad.mit.edu	37	10	75186442	75186442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr10:75186442C>T	ENST00000372912.1	-	3	427	c.425G>A	c.(424-426)tGg>tAg	p.W142*	MSS51_ENST00000299432.2_Nonsense_Mutation_p.W142*|AL353731.1_ENST00000584907.1_RNA			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	142					social behavior (GO:0035176)		metal ion binding (GO:0046872)										GTGTGCGGGCCAGTCTGACTT	0.478																																						ENST00000299432.2											0										c.(424-426)tGg>tAg	MSS51 mitochondrial translational activator						160.0	143.0	149.0					10																	75186442		2203	4300	6503	SO:0001587	stop_gained	118490					zinc ion binding	g.chr10:75186442C>T	AK096884	AK096884	CCDS31221.1	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	"""Zinc fingers, MYND-type"""	21000	21000	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			614773	614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	19710419	Standard	Standard	NM_001024593	NM_001024593		Approved	FLJ39565	uc001jud.3	uc001jud.3	Q4VC12	Q4VC12	OTTHUMG00000018464	OTTHUMG00000018464	ENST00000372912.1:c.425G>A	10.37:g.75186442C>T	ENSP00000362003:p.Trp142*		MSS51_ENST00000372912.1_Nonsense_Mutation_p.W142*	p.W142*	NM_001024593.1	NP_001019764.1	Q4VC12	ZMY17_HUMAN			4	490	-			142		A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Nonsense_Mutation	SNP	ENST00000372912.1	37	c.425G>A	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.809603	0.90707	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	.	.	.	5.72	4.82	0.62117	5.72	4.82	0.62117	.	0.125208	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2455	12.5431	0.56184	0.0:0.9195:0.0:0.0805	.	.	.	.	X	142	.	ENSP00000299432:W142X	W	-	2	0	0	ZMYND17	74856448	74856448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.568000	0.67385	1.427000	0.47276	0.650000	0.86243	TGG		0.478	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3		118.536490	-37	-37	95	95	NM_178451		38	118.950458	118.950458	51	0.426966	0	0	0	1	0	38	51	0.426966
CSMD3	114788	broad.mit.edu	37	8	114448977	114448977	+	Missense_Mutation	SNP	T	T	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr8:114448977T>A	ENST00000297405.5	-	1	351	c.107A>T	c.(106-108)aAg>aTg	p.K36M	CSMD3_ENST00000352409.3_Missense_Mutation_p.K36M|CSMD3_ENST00000455883.2_Missense_Mutation_p.K36M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCCATTTTCTTCATCAGGAT	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5											0			breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(106-108)aAg>aTg	CUB and Sushi multiple domains 3						160.0	163.0	162.0					8																	114448977		2203	4300	6503	SO:0001583	missense	114788				integral to membrane|plasma membrane		g.chr8:114448977T>A	AY210419	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			2007-01-06			ENSG00000164796	ENSG00000164796	ENSG00000164796	ENSG00000164796				19291	19291	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608399	608399								Standard	Standard	NM_052900	NM_052900		Approved		uc003ynu.3	uc003ynu.3	Q7Z407	Q7Z407	OTTHUMG00000157027	OTTHUMG00000157027	ENST00000297405.5:c.107A>T	8.37:g.114448977T>A	ENSP00000297405:p.Lys36Met		CSMD3_ENST00000455883.2_Missense_Mutation_p.K36M|CSMD3_ENST00000352409.3_Missense_Mutation_p.K36M	p.K36M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			1	351	-			36		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.107A>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	T	11.19	1.566535	0.28003	.	.	ENSG00000164796	ENST00000297405;ENST00000455883;ENST00000352409	T;T;T	0.26223	2.09;1.75;2.09	5.82	4.63	0.57726	5.82	4.63	0.57726	.	0.367343	0.19539	N	0.111858	T	0.24122	0.0584	N	0.08118	0	0.27776	N	0.943335	P;D;D;P	0.69078	0.891;0.995;0.997;0.826	P;P;P;P	0.60415	0.73;0.847;0.874;0.541	T	0.05767	-1.0865	10	0.46703	T	0.11	.	8.5911	0.33688	0.0:0.1493:0.0:0.8507	.	36;36;36;36	Q7Z407-3;Q7Z407-4;Q7Z407-5;Q7Z407	.;.;.;CSMD3_HUMAN	M	36	ENSP00000297405:K36M;ENSP00000412263:K36M;ENSP00000343124:K36M	ENSP00000297405:K36M	K	-	2	0	0	CSMD3	114518153	114518153	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.958000	0.40402	0.983000	0.38602	0.533000	0.62120	AAG		0.507	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		-16.159774	-7	-7	129	129	NM_052900		6	11.854962	11.854962	122	0.046875	0	0	0	1	0	6	122	0.046875
PKP3	11187	ucsc.edu	37	11	396622	396622	+	Missense_Mutation	SNP	C	C	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr11:396622C>A	ENST00000331563.2	+	2	323	c.247C>A	c.(247-249)Cag>Aag	p.Q83K	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	83					desmosome assembly (GO:0002159)|establishment of protein localization to plasma membrane (GO:0090002)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|desmosome (GO:0030057)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCCAGGGGGCAGTACCACAC	0.647																																																	0																	68.0	49.0	55.0					11																	396622		2200	4296	6496	SO:0001583	missense	11187							Z98265	Z98265	CCDS7695.1	CCDS7695.1	11p15	2013-02-14			2013-02-14			ENSG00000184363	ENSG00000184363	ENSG00000184363	ENSG00000184363		"""Armadillo repeat containing"""	"""Armadillo repeat containing"""	9025	9025	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605561	605561						10374265	10374265	Standard	Standard	XM_005252760	XM_005252760		Approved		uc001lpc.3	uc001lpc.3	Q9Y446	Q9Y446	OTTHUMG00000119068	OTTHUMG00000119068	ENST00000331563.2:c.247C>A	11.37:g.396622C>A	ENSP00000331678:p.Gln83Lys																	F8J390|Q53EX8	Missense_Mutation	SNP	ENST00000331563.2	37		CCDS7695.1	.	.	.	.	.	.	.	.	.	.	c	13.62	2.291589	0.40494	.	.	ENSG00000184363	ENST00000331563;ENST00000531857	T	0.78707	-1.2	3.5	3.5	0.40072	3.5	3.5	0.40072	.	.	.	.	.	T	0.59636	0.2208	N	0.22421	0.69	0.32377	N	0.555099	B	0.09022	0.002	B	0.08055	0.003	T	0.54146	-0.8337	9	0.05833	T	0.94	-17.2863	10.7288	0.46085	0.0:1.0:0.0:0.0	.	83	Q9Y446	PKP3_HUMAN	K	83;25	ENSP00000331678:Q83K	ENSP00000331678:Q83K	Q	+	1	0	0	PKP3	386622	386622	0.269000	0.24143	0.875000	0.34327	0.455000	0.32408	2.972000	0.49256	1.999000	0.58509	0.306000	0.20318	CAG		0.647	PKP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239281.1			0	0	36	36	NM_007183		4			15							4	15	
DEDD	9191	broad.mit.edu	37	1	161092816	161092816	+	Intron	SNP	T	T	C			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr1:161092816T>C	ENST00000368006.3	-	5	795				NIT1_ENST00000368008.1_Intron|DEDD_ENST00000489249.1_Intron|DEDD_ENST00000545495.1_Intron|DEDD_ENST00000392188.1_Missense_Mutation_p.Y210C|DEDD_ENST00000458050.2_Intron|DEDD_ENST00000490843.2_Intron|DEDD_ENST00000368005.1_Missense_Mutation_p.Y210C	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing						decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CAGTTCTTTATATTCTCCTTC	0.478																																						ENST00000392188.1											0			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10						c.(628-630)tAt>tGt	death effector domain containing						106.0	102.0	103.0					1																	161092816		2203	4300	6503	SO:0001627	intron_variant	9191			apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr1:161092816T>C	AF043733	AF043733	CCDS1219.1	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796	ENSG00000158796	ENSG00000158796				2755	2755	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			606841	606841	"""death effector domain-containing"""		"""death effector domain-containing"""			9774341, 9832420	9774341, 9832420	Standard	Standard	XM_005245597	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	uc001fxz.3	O75618	O75618	OTTHUMG00000033104	OTTHUMG00000033104	ENST00000368006.3:c.580+48A>G	1.37:g.161092816T>C			DEDD_ENST00000489249.1_Intron|DEDD_ENST00000490843.2_Intron|DEDD_ENST00000458050.2_Intron|DEDD_ENST00000368006.3_Intron|DEDD_ENST00000545495.1_Intron|NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368005.1_Missense_Mutation_p.Y210C	p.Y210C			O75618	DEDD_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		5	863	-	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		194		D3DVF5|O60737	Missense_Mutation	SNP	ENST00000368006.3	37	c.629A>G	CCDS1219.1	.	.	.	.	.	.	.	.	.	.	T	5.226	0.227117	0.09916	.	.	ENSG00000158796	ENST00000392188;ENST00000368005	.	.	.	3.53	-2.9	0.05648	3.53	-2.9	0.05648	.	3.295540	0.01151	U	0.006438	T	0.12475	0.0303	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24297	-1.0164	8	0.38643	T	0.18	.	9.2184	0.37362	0.0:0.5916:0.0:0.4084	.	210	B1AQP5	.	C	210	.	ENSP00000356984:Y210C	Y	-	2	0	0	DEDD	159359440	159359440	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.657000	0.05335	-0.487000	0.06735	-0.589000	0.04120	TAT		0.478	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1		134.901207	-10	-10	113	113	NM_004216		40	134.901207	134.901207	40	0.500000	0	0	0	1	0	40	40	0.5
NLRP3	114548	broad.mit.edu	37	1	247582115	247582115	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr1:247582115C>T	ENST00000336119.3	+	1	765	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C	NLRP3_ENST00000348069.2_Missense_Mutation_p.R7C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R7C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Missense_Mutation_p.R7C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R7C|NLRP3_ENST00000366497.2_Missense_Mutation_p.R7C	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	7	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GGCAAGCACCCGCTGCAAGCT	0.527																																						ENST00000366497.2											0			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142						c.(19-21)Cgc>Tgc	NLR family, pyrin domain containing 3						43.0	45.0	44.0					1																	247582115		2203	4300	6503	SO:0001583	missense	114548			detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247582115C>T	AF054176	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	16400	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	10741953	Standard	Standard	NM_183395	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	uc001icr.3	Q96P20	Q96P20	OTTHUMG00000040647	OTTHUMG00000040647	ENST00000336119.3:c.19C>T	1.37:g.247582115C>T	ENSP00000337383:p.Arg7Cys		NLRP3_ENST00000348069.2_Missense_Mutation_p.R7C|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000336119.3_Missense_Mutation_p.R7C|NLRP3_ENST00000391827.2_Missense_Mutation_p.R7C|NLRP3_ENST00000366496.2_Missense_Mutation_p.R7C|NLRP3_ENST00000391828.3_Missense_Mutation_p.R7C	p.R7C	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		2	799	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	7	DAPIN.	B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.19C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669103	0.67814	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.53640	0.61;0.61;0.61;0.61;0.61;0.61	4.49	4.49	0.54785	4.49	4.49	0.54785	Pyrin (2);DEATH-like (2);	0.150326	0.30565	N	0.009356	T	0.65154	0.2664	M	0.68317	2.08	0.54753	D	0.999987	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.994;0.973;0.982;0.973;1.0	T	0.67643	-0.5618	10	0.66056	D	0.02	.	12.8787	0.58003	0.0:1.0:0.0:0.0	.	7;7;7;7;7	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	C	7	ENSP00000375704:R7C;ENSP00000355453:R7C;ENSP00000337383:R7C;ENSP00000294752:R7C;ENSP00000355452:R7C;ENSP00000375703:R7C	ENSP00000337383:R7C	R	+	1	0	0	NLRP3	245648738	245648738	0.910000	0.30920	0.951000	0.38953	0.743000	0.42351	1.560000	0.36331	2.498000	0.84270	0.561000	0.74099	CGC		0.527	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1		21.387716	-7	-7	37	37	NM_004895		8	23.030468	23.030468	23	0.258065	0	0	0	1	0	8	23	0.258065
PHRF1	57661	broad.mit.edu	37	11	609063	609063	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr11:609063C>T	ENST00000264555.5	+	14	3735	c.3607C>T	c.(3607-3609)Cca>Tca	p.P1203S	PHRF1_ENST00000533464.1_Missense_Mutation_p.P1199S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P1202S|PHRF1_ENST00000413872.2_Missense_Mutation_p.P1201S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1203					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGAGGCTTCCCCAGCGCCCCT	0.701																																						ENST00000264555.5											0			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						c.(3607-3609)Cca>Tca	PHD and ring finger domains 1						8.0	10.0	10.0					11																	609063		1978	4115	6093	SO:0001583	missense	57661					RNA polymerase binding|zinc ion binding	g.chr11:609063C>T	BC004950	BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			2014-06-13			ENSG00000070047	ENSG00000070047	ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	24351	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780	611780		RNF221		RNF221				Standard	Standard	XM_005253027	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	uc010qwc.2	Q9P1Y6	Q9P1Y6	OTTHUMG00000165141	OTTHUMG00000165141	ENST00000264555.5:c.3607C>T	11.37:g.609063C>T	ENSP00000264555:p.Pro1203Ser		PHRF1_ENST00000413872.2_Missense_Mutation_p.P1201S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P1199S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P1202S	p.P1203S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN			14	3735	+			1203		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	ENST00000264555.5	37	c.3607C>T		.	.	.	.	.	.	.	.	.	.	C	15.80	2.940513	0.52972	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.81078	-1.44;-1.44;-1.45;-1.45	4.42	2.42	0.29668	4.42	2.42	0.29668	.	0.585786	0.14227	N	0.332962	T	0.77870	0.4195	L	0.29908	0.895	0.09310	N	1	D;B;B;B	0.58268	0.982;0.123;0.123;0.075	P;B;B;B	0.54664	0.758;0.039;0.039;0.017	T	0.66476	-0.5914	10	0.52906	T	0.07	-7.2646	8.9007	0.35493	0.169:0.668:0.163:0.0	.	1199;1201;1202;1203	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	S	1203;1201;1202;1199	ENSP00000264555:P1203S;ENSP00000388589:P1201S;ENSP00000410626:P1202S;ENSP00000431870:P1199S	ENSP00000264555:P1203S	P	+	1	0	0	PHRF1	599063	599063	0.057000	0.20700	0.011000	0.14972	0.050000	0.14768	1.411000	0.34702	0.423000	0.26033	0.462000	0.41574	CCA		0.701	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000382133.1		6.650023	8	8	26	26	NM_020901		2	6.650023	6.650023	2	0.500000	0	0	0	1	0	2	2	0.5
SNX20	124460	broad.mit.edu	37	16	50707379	50707379	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr16:50707379G>A	ENST00000330943.4	-	4	1060	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron|RP11-401P9.5_ENST00000570241.2_RNA	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	297					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GTGGGCCTCCGGAGCTGGCTC	0.662																																						ENST00000330943.4											0			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(889-891)Cgg>Tgg	sorting nexin 20						38.0	42.0	41.0					16																	50707379		2192	4297	6489	SO:0001583	missense	124460			cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707379G>A	AK055837	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208	ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	"""Sorting nexins"""	30390	30390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	"""selectin ligand interactor cytoplasmic 1"""	613281	613281						18196517, 16782399	18196517, 16782399	Standard	Standard	NM_182854	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	uc002egk.2	Q7Z614	Q7Z614	OTTHUMG00000133173	OTTHUMG00000133173	ENST00000330943.4:c.889C>T	16.37:g.50707379G>A	ENSP00000332062:p.Arg297Trp		SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	p.R297W	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN			4	1060	-			297		A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.889C>T	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.134001	0.77662	.	.	ENSG00000167208	ENST00000330943;ENST00000413750	T	0.33216	1.42	5.67	5.67	0.87782	5.67	5.67	0.87782	.	0.593626	0.16759	N	0.200718	T	0.46425	0.1392	L	0.60455	1.87	0.29623	N	0.846035	D	0.76494	0.999	P	0.57720	0.826	T	0.47156	-0.9139	10	0.66056	D	0.02	-34.8905	12.575	0.56359	0.0:0.0:0.7916:0.2083	.	297	Q7Z614	SNX20_HUMAN	W	297;133	ENSP00000332062:R297W	ENSP00000332062:R297W	R	-	1	2	2	SNX20	49264880	49264880	0.055000	0.20627	0.717000	0.30585	0.897000	0.52465	2.229000	0.42990	2.676000	0.91093	0.561000	0.74099	CGG		0.662	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2		81.444387	-26	-26	67	67	NM_153337		26	81.579307	81.579307	32	0.448276	0	0	0	1	0	26	32	0.448276
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	AC005262.3_ENST00000587701.1_RNA|AC005262.2_ENST00000585980.1_RNA|GNA11_ENST00000586180.1_3'UTR	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					action potential (GO:0001508)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|cellular response to pH (GO:0071467)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|regulation of melanocyte differentiation (GO:0045634)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612			Mis		uveal melanoma																																	ENST00000078429.4		Dom	yes		19	19p13.3	2767	"""guanine nucleotide binding protein (G protein), alpha 11 (Gq class)"""		E	82	Substitution - Missense(82)	eye(69)|skin(8)|meninges(5)	endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161						c.(625-627)cAg>cTg	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)						104.0	89.0	94.0					19																	3118942		2203	4300	6503	SO:0001583	missense	2767			activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr19:3118942A>T	AF493900	AF493900	CCDS12103.1	CCDS12103.1	19p13.3	2014-02-04			2014-02-04			ENSG00000088256	ENSG00000088256	ENSG00000088256	ENSG00000088256				4379	4379	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			139313	139313	"""hypocalciuric hypercalcemia 2"""	HHC2	"""hypocalciuric hypercalcemia 2"""	HHC2		1302014, 23802516	1302014, 23802516	Standard	Standard	NM_002067	NM_002067		Approved	FBH, FBH2, FHH2	uc002lxd.3	uc002lxd.3	P29992	P29992	OTTHUMG00000180631	OTTHUMG00000180631	ENST00000078429.4:c.626A>T	19.37:g.3118942A>T	ENSP00000078429:p.Gln209Leu		GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	p.Q209L	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)	5	868	+		Hepatocellular(1079;0.137)	209		O15109|Q14350|Q6IB00	Missense_Mutation	SNP	ENST00000078429.4	37	c.626A>T	CCDS12103.1	.	.	.	.	.	.	.	.	.	.	.	15.05	2.718086	0.48622	.	.	ENSG00000088256	ENST00000078429	D	0.91237	-2.81	3.26	3.26	0.37387	3.26	3.26	0.37387	.	0.000000	0.64402	U	0.000006	D	0.96950	0.9004	H	0.99357	4.53	0.80722	D	1	D	0.59767	0.986	D	0.68483	0.958	D	0.96823	0.9605	10	0.87932	D	0	.	10.7338	0.46113	1.0:0.0:0.0:0.0	.	209	P29992	GNA11_HUMAN	L	209	ENSP00000078429:Q209L	ENSP00000078429:Q209L	Q	+	2	0	0	GNA11	3069942	3069942	1.000000	0.71417	0.438000	0.26821	0.027000	0.11550	9.104000	0.94239	1.256000	0.44068	0.379000	0.24179	CAG		0.612	GNA11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452261.2		71.353393	-21	-21	60	60	NM_002067		22	71.440422	71.440422	18	0.550000	0	0	0	1	0	22	18	0.55
OR3A5P	100856809	broad.mit.edu	37	17	3214840	3214840	+	RNA	DEL	T	T	-			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr17:3214840delT	ENST00000573491.1	-	0	359																											CTCCCACCTCTTTTCCAGCTC	0.532																																						ENST00000573491.1											0																																																0						g.chr17:3214840delT																																																		17.37:g.3214840delT											0	359	-						RNA	DEL	ENST00000573491.1	37																																																																																											0.532	RP11-64J4.2-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000438371.1	.	.	-8	-8	5	5			2			4	0.33						2	4	0.33
DNAH17	8632	broad.mit.edu	37	17	76570918	76570918	+	Silent	SNP	G	G	T			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr17:76570918G>T	ENST00000585328.1	-	2	346	c.222C>A	c.(220-222)tcC>tcA	p.S74S	DNAH17_ENST00000389840.5_Silent_p.S74S	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	74	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAACCCCTTTGGACTTGAGGG	0.567																																						ENST00000389840.5											0			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116						c.(220-222)tcC>tcA	dynein, axonemal, heavy chain 17						122.0	130.0	127.0					17																	76570918		2026	4180	6206	SO:0001819	synonymous_variant	8632						g.chr17:76570918G>T	AJ000522	AJ000522			17q25.3	2012-04-19	2006-09-04		2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775	ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	"""Axonemal dyneins"""	2946	2946	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610063	610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	9545504	Standard	Standard	NM_173628	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	uc010dhp.2	Q9UFH2	Q9UFH2			ENST00000585328.1:c.222C>A	17.37:g.76570918G>T			DNAH17_ENST00000585328.1_Silent_p.S74S	p.S74S					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		2	346	-					O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.222C>A																																																																																										0.567	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2		-2.615396	-23	-23	58	58	NM_173628		3	6.959699	6.959699	45	0.062500	1	0	0.115264	1	0.115264	3	45	0.0625
PPP5C	5536	broad.mit.edu	37	19	46893539	46893539	+	Splice_Site	DEL	A	A	-			TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr19:46893539delA	ENST00000012443.4	+	13	1540		c.e13-1		PPP5C_ENST00000391919.1_Splice_Site|AC007193.8_ENST00000598616.1_RNA	NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN	protein phosphatase 5, catalytic subunit						cell death (GO:0008219)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein dephosphorylation (GO:0006470)|protein heterooligomerization (GO:0051291)|response to morphine (GO:0043278)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)|metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|RNA binding (GO:0003723)|signal transducer activity (GO:0004871)			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)		CTGGTCCCACAGCCTCATCCC	0.642																																						ENST00000012443.4											0			endometrium(4)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|pancreas(1)	18						c.e13-1	protein phosphatase 5, catalytic subunit						87.0	63.0	71.0					19																	46893539		2202	4297	6499	SO:0001630	splice_region_variant	5536			mitosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein dephosphorylation|transcription, DNA-dependent	Golgi apparatus|nucleus	metal ion binding|protein binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr19:46893539delA			CCDS12684.1	CCDS12684.1	19q13.3	2013-01-10			2013-01-10			ENSG00000011485	ENSG00000011485	ENSG00000011485	ENSG00000011485	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	9322	9322	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600658	600658		PPP5		PPP5		8666404	8666404	Standard	Standard	NM_006247	NM_006247		Approved	PP5	uc002pem.3	uc002pem.3	P53041	P53041	OTTHUMG00000134287	OTTHUMG00000134287	ENST00000012443.4:c.1438-1A>-	19.37:g.46893539delA			PPP5C_ENST00000391919.1_Splice_Site		NM_006247.3	NP_006238.1	P53041	PPP5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000196)|all cancers(93;0.00192)|GBM - Glioblastoma multiforme(486;0.0499)|Epithelial(262;0.0504)	13	1540	+		Ovarian(192;0.0731)|all_neural(266;0.196)			Q16722|Q53XV2	Splice_Site	DEL	ENST00000012443.4	37		CCDS12684.1																																																																																									0.642	PPP5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258969.2	.	.	3	3	5	5	NM_006247	Intron	2			4	0.33						2	4	0.33
SYNE2	23224	broad.mit.edu	37	14	64686021	64686022	+	Frame_Shift_Ins	INS	-	-	C	rs148199074		TCGA-V4-A9EH-01A-11D-A39W-08	TCGA-V4-A9EH-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3cf7a2f3-7072-4044-96a5-ac18ac5b8f0c	054f6705-72e2-448a-be01-e10826c545cf	g.chr14:64686021_64686022insC	ENST00000344113.4	+	109	19896_19897	c.19684_19685insC	c.(19684-19686)gccfs	p.A6562fs	SYNE2_ENST00000394768.2_Frame_Shift_Ins_p.A2947fs|SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.A6478fs|SYNE2_ENST00000555002.1_Frame_Shift_Ins_p.A3219fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000358025.3_Frame_Shift_Ins_p.A6585fs|SYNE2_ENST00000357395.3_Frame_Shift_Ins_p.A2947fs|SYNE2_ENST00000554805.1_Frame_Shift_Ins_p.A345fs|SYNE2_ENST00000555022.1_Frame_Shift_Ins_p.A440fs|SYNE2_ENST00000441438.2_Frame_Shift_Ins_p.A93fs|SYNE2_ENST00000458046.2_Frame_Shift_Ins_p.A219fs	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6562					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.A6585S(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGATATCAGCGCCATCACTACT	0.426																																						ENST00000357395.3											1	Substitution - Missense(1)	lung(1)	NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224						c.(8839-8841)gccfs	spectrin repeat containing, nuclear envelope 2																																			SO:0001589	frameshift_variant	23224			centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64686021_64686022insC	AB023228	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			2014-09-17			ENSG00000054654	ENSG00000054654	ENSG00000054654	ENSG00000054654				17084	17084	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442	608442						10231032, 10878022	10231032, 10878022	Standard	Standard	NM_182910	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	uc001xgl.3	Q8WXH0	Q8WXH0	OTTHUMG00000140349	OTTHUMG00000140349	ENST00000344113.4:c.19686dupC	14.37:g.64686023_64686023dupC	ENSP00000341781:p.Ala6562fs		SYNE2_ENST00000554805.1_Frame_Shift_Ins_p.A345fs|SYNE2_ENST00000358025.3_Frame_Shift_Ins_p.A6585fs|SYNE2_ENST00000441438.2_Frame_Shift_Ins_p.A93fs|SYNE2_ENST00000458046.2_Frame_Shift_Ins_p.A219fs|SYNE2_ENST00000555022.1_Frame_Shift_Ins_p.A440fs|SYNE2_ENST00000344113.4_Frame_Shift_Ins_p.A6562fs|SYNE2_ENST00000394768.2_Frame_Shift_Ins_p.A2947fs|SYNE2_ENST00000554584.1_Frame_Shift_Ins_p.A6478fs|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Frame_Shift_Ins_p.A3219fs	p.A2947fs			Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	110	19983_19984	+			6562		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Frame_Shift_Ins	INS	ENST00000344113.4	37	c.8839_8840insC	CCDS41963.1																																																																																									0.426	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	.	.	10	10	71	71	NM_182914		21			30	0.41						21	30	0.41
