#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
IL18R1	8809	broad.mit.edu	37	2	102998134	102998134	+	Missense_Mutation	SNP	T	T	C	rs56076776		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr2:102998134T>C	ENST00000409599.1	+	7	1036	c.680T>C	c.(679-681)gTg>gCg	p.V227A	IL18R1_ENST00000233957.1_Missense_Mutation_p.V227A			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	227	Ig-like C2-type 3.				immune response (GO:0006955)|natural killer cell activation (GO:0030101)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|signal transduction (GO:0007165)|T-helper 1 cell differentiation (GO:0045063)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-18 receptor activity (GO:0042008)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CATGTTGCAGTGGAATTAGGT	0.343																																						ENST00000409599.1											0			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						c.(679-681)gTg>gCg	interleukin 18 receptor 1						111.0	103.0	106.0					2																	102998134		2203	4300	6503	SO:0001583	missense	8809			innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	g.chr2:102998134T>C	U43672	U43672	CCDS2060.1	CCDS2060.1	2q12	2013-01-29			2013-01-29			ENSG00000115604	ENSG00000115604	ENSG00000115604	ENSG00000115604		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5988	5988	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			604494	604494						8626725, 10191101	8626725, 10191101	Standard	Standard	NM_003855	NM_003855		Approved	IL1RRP, IL-1Rrp, CD218a	uc010fiy.3	uc010fiy.3	Q13478	Q13478	OTTHUMG00000130780	OTTHUMG00000130780	ENST00000409599.1:c.680T>C	2.37:g.102998134T>C	ENSP00000387211:p.Val227Ala		IL18R1_ENST00000233957.1_Missense_Mutation_p.V227A	p.V227A			Q13478	IL18R_HUMAN			7	1036	+			227	Ig-like C2-type 3.	B2R9Y5|Q52LC9	Missense_Mutation	SNP	ENST00000409599.1	37	c.680T>C	CCDS2060.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.928888	0.34002	.	.	ENSG00000115604	ENST00000410040;ENST00000409599;ENST00000233957	T;T;T	0.16457	2.34;2.34;2.34	5.03	3.85	0.44370	5.03	3.85	0.44370	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.254304	0.27996	N	0.017020	T	0.18087	0.0434	M	0.66506	2.035	0.80722	D	1	B;B	0.33171	0.4;0.4	B;B	0.34873	0.191;0.191	T	0.02505	-1.1149	10	0.30854	T	0.27	.	7.8067	0.29206	0.0:0.1002:0.0:0.8998	.	227;227	B7ZKV7;Q13478	.;IL18R_HUMAN	A	227	ENSP00000386663:V227A;ENSP00000387211:V227A;ENSP00000233957:V227A	ENSP00000233957:V227A	V	+	2	0	0	IL18R1	102364566	102364566	1.000000	0.71417	0.995000	0.50966	0.350000	0.29205	2.040000	0.41203	2.017000	0.59298	0.528000	0.53228	GTG		0.343	IL18R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253294.2		37.369144	-12	-12	30	30	NM_003855		13	37.485592	37.485592	17	0.433333	0	0	0	1	0	13	17	0.433333
C4orf17	84103	broad.mit.edu	37	4	100463085	100463085	+	Missense_Mutation	SNP	C	C	T	rs201530498		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr4:100463085C>T	ENST00000326581.4	+	9	1261	c.899C>T	c.(898-900)cCa>cTa	p.P300L		NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	300										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		CACAAGCCTCCACTACTTATA	0.363																																						ENST00000326581.4											0			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18						c.(898-900)cCa>cTa	chromosome 4 open reading frame 17						32.0	35.0	34.0					4																	100463085		2202	4300	6502	SO:0001583	missense	84103						g.chr4:100463085C>T	AL136838	AL136838	CCDS3649.1	CCDS3649.1	4q23	2008-02-05			2008-02-05			ENSG00000138813	ENSG00000138813	ENSG00000138813	ENSG00000138813				25274	25274	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11230166	11230166	Standard	Standard	NM_032149	NM_032149		Approved	DKFZP434G072	uc003huw.3	uc003huw.3	Q53FE4	Q53FE4	OTTHUMG00000131027	OTTHUMG00000131027	ENST00000326581.4:c.899C>T	4.37:g.100463085C>T	ENSP00000322582:p.Pro300Leu			p.P300L	NM_032149.2	NP_115525.2	Q53FE4	CD017_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)	9	1261	+			300		Q6FI84|Q6IS77|Q8NA78|Q9H0D9	Missense_Mutation	SNP	ENST00000326581.4	37	c.899C>T	CCDS3649.1	.	.	.	.	.	.	.	.	.	.	C	8.105	0.777448	0.16120	.	.	ENSG00000138813	ENST00000326581	T	0.21031	2.03	5.42	3.57	0.40892	5.42	3.57	0.40892	.	0.254540	0.28544	N	0.014977	T	0.34279	0.0892	M	0.62723	1.935	0.09310	N	0.999999	D	0.63046	0.992	P	0.60068	0.868	T	0.06463	-1.0825	10	0.54805	T	0.06	-8.5037	7.4637	0.27310	0.1979:0.6184:0.1837:0.0	.	300	Q53FE4	CD017_HUMAN	L	300	ENSP00000322582:P300L	ENSP00000322582:P300L	P	+	2	0	0	C4orf17	100682108	100682108	0.002000	0.14202	0.025000	0.17156	0.009000	0.06853	0.571000	0.23669	1.451000	0.47736	0.650000	0.86243	CCA		0.363	C4orf17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253670.2		45.948313	-5	-5	38	38	NM_032149		14	45.977269	45.977269	16	0.466667	0	0	0	1	0	14	16	0.466667
SQSTM1	8878	broad.mit.edu	37	5	179251203	179251203	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr5:179251203C>T	ENST00000389805.4	+	4	731	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	SQSTM1_ENST00000376929.3_Missense_Mutation_p.L101F|SQSTM1_ENST00000402874.3_Missense_Mutation_p.L101F|SQSTM1_ENST00000360718.5_Missense_Mutation_p.L101F|SQSTM1_ENST00000510187.1_Missense_Mutation_p.L185F	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	185	Interaction with GABRR3. {ECO:0000250}.|LIM protein-binding (LB).				apoptotic signaling pathway (GO:0097190)|autophagy (GO:0006914)|cell differentiation (GO:0030154)|endosomal transport (GO:0016197)|immune system process (GO:0002376)|intracellular signal transduction (GO:0035556)|macroautophagy (GO:0016236)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein heterooligomerization (GO:0051291)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of Ras protein signal transduction (GO:0046578)|response to stress (GO:0006950)|ubiquitin-dependent protein catabolic process (GO:0006511)	aggresome (GO:0016235)|autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|lysosome (GO:0005764)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein kinase binding (GO:0019901)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|receptor tyrosine kinase binding (GO:0030971)|SH2 domain binding (GO:0042169)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGCCGCTGGCTCCGGAAGGT	0.667																																						ENST00000389805.4											0			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13						c.(553-555)Ctc>Ttc	sequestosome 1						43.0	50.0	48.0					5																	179251203		2203	4300	6503	SO:0001583	missense	8878			anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding	g.chr5:179251203C>T	U46751	U46751	CCDS34317.1, CCDS47355.1	CCDS34317.1, CCDS47355.1	5q35	2008-02-05	2004-04-15		2008-02-05	2004-04-15		ENSG00000161011	ENSG00000161011	ENSG00000161011	ENSG00000161011				11280	11280	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			601530	601530	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL	"""Paget disease of bone 3"", ""oxidative stress induced like"""	PDB3, OSIL		8650207, 8551575	8650207, 8551575	Standard	Standard	NM_003900	NM_003900		Approved	p62, p60, p62B, A170	uc003mkw.4	uc003mkw.4	Q13501	Q13501	OTTHUMG00000150643	OTTHUMG00000150643	ENST00000389805.4:c.553C>T	5.37:g.179251203C>T	ENSP00000374455:p.Leu185Phe		SQSTM1_ENST00000376929.3_Missense_Mutation_p.L101F|SQSTM1_ENST00000402874.3_Missense_Mutation_p.L101F|SQSTM1_ENST00000360718.5_Missense_Mutation_p.L101F|SQSTM1_ENST00000510187.1_Missense_Mutation_p.L185F	p.L185F	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		4	731	+	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	185	Interaction with GABRR3 (By similarity).|LIM protein-binding (LB).	A6NFN7|B2R661|B3KUW5|Q13446|Q9BUV7|Q9BVS6|Q9UEU1	Missense_Mutation	SNP	ENST00000389805.4	37	c.553C>T	CCDS34317.1	.	.	.	.	.	.	.	.	.	.	C	9.862	1.196529	0.22037	.	.	ENSG00000161011	ENST00000376929;ENST00000514093;ENST00000422245;ENST00000389805;ENST00000454378;ENST00000402874;ENST00000510187;ENST00000360718	D;T;T;D;D;T;D	0.82433	-1.6;1.91;1.45;-1.61;-1.6;2.44;-1.6	4.79	4.79	0.61399	4.79	4.79	0.61399	.	0.200482	0.45867	D	0.000338	T	0.80093	0.4560	L	0.52364	1.645	0.45995	D	0.998802	B;B	0.22276	0.001;0.067	B;B	0.24269	0.004;0.052	T	0.77109	-0.2709	10	0.42905	T	0.14	-33.0609	16.3966	0.83607	0.0:1.0:0.0:0.0	.	185;185	Q13501;E7EMC7	SQSTM_HUMAN;.	F	101;101;101;185;41;101;185;101	ENSP00000366128:L101F;ENSP00000427308:L101F;ENSP00000394534:L101F;ENSP00000374455:L185F;ENSP00000385553:L101F;ENSP00000424477:L185F;ENSP00000353944:L101F	ENSP00000353944:L101F	L	+	1	0	0	SQSTM1	179183809	179183809	1.000000	0.71417	1.000000	0.80357	0.063000	0.16089	1.684000	0.37649	2.367000	0.80283	0.561000	0.74099	CTC		0.667	SQSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319344.1		63.470986	-6	-6	56	56			21	63.490831	63.490831	23	0.477273	0	0	0	1	0	21	23	0.477273
KIAA1109	84162	broad.mit.edu	37	4	123275053	123275053	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr4:123275053C>G	ENST00000264501.4	+	82	14559	c.14186C>G	c.(14185-14187)gCt>gGt	p.A4729G	KIAA1109_ENST00000388738.3_Missense_Mutation_p.A4729G			Q2LD37	K1109_HUMAN	KIAA1109	4729					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCATGTGGTGCTTTGGAAAGT	0.383																																						ENST00000264501.4											0			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						c.(14185-14187)gCt>gGt	KIAA1109						98.0	91.0	93.0					4																	123275053		1856	4100	5956	SO:0001583	missense	84162			regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123275053C>G	AL137384	AL137384	CCDS43267.1	CCDS43267.1	4q28.1	2012-07-09			2012-07-09			ENSG00000138688	ENSG00000138688	ENSG00000138688	ENSG00000138688				26953	26953	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""fragile site-associated"""	"""fragile site-associated"""	611565	611565						16386706	16386706	Standard	Standard	NM_015312	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	uc003ieh.3	Q2LD37	Q2LD37	OTTHUMG00000150116	OTTHUMG00000150116	ENST00000264501.4:c.14186C>G	4.37:g.123275053C>G	ENSP00000264501:p.Ala4729Gly		KIAA1109_ENST00000388738.3_Missense_Mutation_p.A4729G	p.A4729G			Q2LD37	K1109_HUMAN			82	14559	+			4729		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.14186C>G	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	4.001660|4.001660	0.74932|0.74932	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707;ENST00000431755|ENST00000306802	T;T;T|.	0.34072|.	2.36;2.36;1.38|.	6.04|6.04	6.04|6.04	0.98038|0.98038	6.04|6.04	6.04|6.04	0.98038|0.98038	Fragile site-associated protein, C-terminal (1);|.	0.225686|.	0.44688|.	D|.	0.000431|.	T|T	0.74137|0.74137	0.3677|0.3677	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.996;0.999|.	D;D|.	0.83275|.	0.99;0.996|.	T|T	0.68762|0.68762	-0.5323|-0.5323	10|5	0.33141|.	T|.	0.24|.	.|.	20.5891|20.5891	0.99427|0.99427	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4728;4729|.	Q2LD37-4;Q2LD37|.	.;K1109_HUMAN|.	G|V	4729;4729;1398;330|1105	ENSP00000264501:A4729G;ENSP00000373390:A4729G;ENSP00000410874:A1398G|.	ENSP00000264501:A4729G|.	A|L	+|+	2|1	0|0	0|0	KIAA1109|KIAA1109	123494503|123494503	123494503|123494503	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.818000|7.818000	0.86416|0.86416	2.876000|2.876000	0.98609|0.98609	0.650000|0.650000	0.86243|0.86243	GCT|CTT		0.383	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1		54.939144	-15	-15	44	44	NM_020797		18	55.415304	55.415304	28	0.391304	0	0	0	1	0	18	28	0.391304
FANCA	2175	broad.mit.edu	37	16	89882378	89882378	+	Silent	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr16:89882378C>T	ENST00000389301.3	-	2	126	c.96G>A	c.(94-96)agG>agA	p.R32R	FANCA_ENST00000534992.1_Silent_p.R32R|FANCA_ENST00000563673.1_Silent_p.R32R|FANCA_ENST00000389302.3_Silent_p.R32R|FANCA_ENST00000543736.1_Silent_p.R32R|FANCA_ENST00000568369.1_Silent_p.R32R	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	32					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TATATTTTTCCCTCTTGACCC	0.552			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000389301.3	yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	0			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47						c.(94-96)agG>agA	Fanconi anemia, complementation group A						112.0	99.0	104.0					16																	89882378		2198	4300	6498	SO:0001819	synonymous_variant	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	g.chr16:89882378C>T	Z83067	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			2014-09-17			ENSG00000187741	ENSG00000187741	ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	"""Fanconi anemia, complementation groups"""	3582	3582	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			607139	607139		FACA, FANCH		FACA, FANCH		7581462, 9382107	7581462, 9382107	Standard	Standard	NM_001286167	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	uc002fou.1	O15360	O15360			ENST00000389301.3:c.96G>A	16.37:g.89882378C>T			FANCA_ENST00000543736.1_Silent_p.R32R|FANCA_ENST00000389302.3_Silent_p.R32R|FANCA_ENST00000563673.1_Silent_p.R32R|FANCA_ENST00000568369.1_Silent_p.R32R|FANCA_ENST00000534992.1_Silent_p.R32R	p.R32R	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.028)	2	126	-		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)	32		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	ENST00000389301.3	37	c.96G>A	CCDS32515.1																																																																																									0.552	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000421927.1		45.889243	3	3	56	56			16	46.23974	46.239740	24	0.400000	0	0	0	1	0	16	24	0.4
PTBP2	58155	broad.mit.edu	37	1	97278911	97278911	+	Missense_Mutation	SNP	C	C	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:97278911C>G	ENST00000426398.2	+	14	1589	c.1546C>G	c.(1546-1548)Ctt>Gtt	p.L516V	PTBP2_ENST00000394184.3_Missense_Mutation_p.L533V|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.L521V|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.L522V|PTBP2_ENST00000609116.1_Missense_Mutation_p.L517V	NM_021190.2	NP_067013.1	Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2	516	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA splice site selection (GO:0006376)|negative regulation of RNA splicing (GO:0033119)|regulation of neural precursor cell proliferation (GO:2000177)	spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		TAATTATAACCTTGGAGAAAA	0.363																																						ENST00000609116.1											0			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26						c.(1549-1551)Ctt>Gtt	polypyrimidine tract binding protein 2						67.0	75.0	72.0					1																	97278911		2203	4300	6503	SO:0001583	missense	58155					nucleotide binding	g.chr1:97278911C>G	AB051232	AB051232	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	CCDS754.1, CCDS72828.1, CCDS72829.1, CCDS72830.1	1p21.3	2013-07-16			2013-07-16			ENSG00000117569	ENSG00000117569	ENSG00000117569	ENSG00000117569		"""RNA binding motif (RRM) containing"""	"""RNA binding motif (RRM) containing"""	17662	17662	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			608449	608449						11003644	11003644	Standard	Standard	XM_005271084	XM_005271084		Approved	brPTB, nPTB, PTB, PTBLP	uc001drq.3	uc001drq.3	Q9UKA9	Q9UKA9	OTTHUMG00000010685	OTTHUMG00000010685	ENST00000426398.2:c.1546C>G	1.37:g.97278911C>G	ENSP00000412788:p.Leu516Val		PTBP2_ENST00000426398.2_Missense_Mutation_p.L516V|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370198.1_Missense_Mutation_p.L521V|PTBP2_ENST00000394184.3_Missense_Mutation_p.L533V|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000370197.1_Missense_Mutation_p.L522V	p.L517V			Q9UKA9	PTBP2_HUMAN		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)	14	1631	+		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		RRM 4.	Q8N0Z1|Q8N160|Q8NFB0|Q8NFB1|Q969N9|Q96Q76	Missense_Mutation	SNP	ENST00000426398.2	37	c.1549C>G	CCDS754.1	.	.	.	.	.	.	.	.	.	.	C	8.228	0.804021	0.16467	.	.	ENSG00000117569	ENST00000236228;ENST00000543738;ENST00000370198;ENST00000370197;ENST00000426398;ENST00000394184	T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89	5.5	5.5	0.81552	5.5	5.5	0.81552	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.151416	0.64402	D	0.000020	T	0.13243	0.0321	M	0.83118	2.625	0.80722	D	1	B;B;B;B;B;B;B	0.16166	0.007;0.001;0.0;0.001;0.016;0.0;0.006	B;B;B;B;B;B;B	0.32211	0.098;0.008;0.0;0.002;0.142;0.037;0.038	T	0.01228	-1.1412	10	0.87932	D	0	-5.3849	14.5806	0.68288	0.1461:0.8539:0.0:0.0	.	525;533;189;521;516;517;522	B4DSU5;B4DSS8;B4DSI2;Q9UKA9-4;Q9UKA9;Q9UKA9-2;Q9UKA9-3	.;.;.;.;PTBP2_HUMAN;.;.	V	517;189;521;522;516;533	ENSP00000236228:L517V;ENSP00000359217:L521V;ENSP00000359216:L522V;ENSP00000412788:L516V;ENSP00000377738:L533V	ENSP00000236228:L517V	L	+	1	0	0	PTBP2	97051499	97051499	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.209000	0.51122	2.734000	0.93682	0.650000	0.86243	CTT		0.363	PTBP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029453.1		98.253618	-30	-30	60	60			33	99.184611	99.184611	52	0.388235	0	0	0	1	0	33	52	0.388235
ATP1B4	23439	broad.mit.edu	37	X	119513467	119513467	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chrX:119513467T>C	ENST00000218008.3	+	8	1109	c.1052T>C	c.(1051-1053)tTt>tCt	p.F351S	ATP1B4_ENST00000539306.1_Missense_Mutation_p.F308S|ATP1B4_ENST00000361319.3_Missense_Mutation_p.F347S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	351					monovalent inorganic cation transport (GO:0015672)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|nuclear inner membrane (GO:0005637)|sodium:potassium-exchanging ATPase complex (GO:0005890)	monovalent inorganic cation transmembrane transporter activity (GO:0015077)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AGGGTAATCTTTACCCTGAAC	0.438																																						ENST00000218008.3											0			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						c.(1051-1053)tTt>tCt	ATPase, Na+/K+ transporting, beta 4 polypeptide						109.0	90.0	97.0					X																	119513467		2203	4300	6503	SO:0001583	missense	23439			ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity	g.chrX:119513467T>C	AF158383	AF158383	CCDS14598.1, CCDS48158.1	CCDS14598.1, CCDS48158.1	Xq24	2012-10-22	2010-04-20		2012-10-22	2010-04-20		ENSG00000101892	ENSG00000101892	ENSG00000101892	ENSG00000101892		"""ATPases / P-type"""	"""ATPases / P-type"""	808	808	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""Na,K-ATPase beta m-subunit"""	"""Na,K-ATPase beta m-subunit"""			"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""		"""ATPase, (Na+)/K+ transporting, beta 4 polypeptide"""			10456317, 17592128	10456317, 17592128	Standard	Standard	NM_012069	NM_012069		Approved		uc004esr.3	uc004esr.3	Q9UN42	Q9UN42	OTTHUMG00000022299	OTTHUMG00000022299	ENST00000218008.3:c.1052T>C	X.37:g.119513467T>C	ENSP00000218008:p.Phe351Ser		ATP1B4_ENST00000361319.3_Missense_Mutation_p.F347S|ATP1B4_ENST00000539306.1_Missense_Mutation_p.F308S	p.F351S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN			8	1109	+			351		Q17RR0|Q9UN41	Missense_Mutation	SNP	ENST00000218008.3	37	c.1052T>C	CCDS48158.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.022110	0.75275	.	.	ENSG00000101892	ENST00000218008;ENST00000361319;ENST00000539306	T;T;T	0.35973	1.28;1.28;1.28	5.33	5.33	0.75918	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	M	0.88640	2.97	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.73088	-0.4093	10	0.87932	D	0	-18.2946	13.4601	0.61223	0.0:0.0:0.0:1.0	.	308;316;351;347	B7ZKW0;B7ZKV9;Q9UN42;Q9UN42-2	.;.;AT1B4_HUMAN;.	S	351;347;308	ENSP00000218008:F351S;ENSP00000355346:F347S;ENSP00000443334:F308S	ENSP00000218008:F351S	F	+	2	0	0	ATP1B4	119397495	119397495	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.215000	0.77966	1.773000	0.52216	0.486000	0.48141	TTT		0.438	ATP1B4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058095.1		127.628209	-41	-41	66	66	NM_001142447		36	134.019498	134.019498	4	0.900000	0	0	0	1	0	36	4	0.9
GNAQ	2776	broad.mit.edu	37	9	80537255	80537255	+	Missense_Mutation	SNP	C	C	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr9:80537255C>A	ENST00000286548.4	-	2	365	c.143G>T	c.(142-144)gGa>gTa	p.G48V		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	48					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						GCCACTCTCTCCTGTCCCTGA	0.448			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	0			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(142-144)gGa>gTa	guanine nucleotide binding protein (G protein), q polypeptide						164.0	154.0	157.0					9																	80537255		2203	4300	6503	SO:0001583	missense	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80537255C>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.143G>T	9.37:g.80537255C>A	ENSP00000286548:p.Gly48Val			p.G48V	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			2	365	-			48		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.143G>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.769355	0.90020	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	T;D	0.90133	-1.16;-2.62	5.87	5.87	0.94306	5.87	5.87	0.94306	G protein alpha subunit, helical insertion (1);	0.000000	0.85682	D	0.000000	D	0.97714	0.9250	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98541	1.0632	10	0.72032	D	0.01	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	48	P50148	GNAQ_HUMAN	V	48;19	ENSP00000286548:G48V;ENSP00000391501:G19V	ENSP00000286548:G48V	G	-	2	0	0	GNAQ	79727075	79727075	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GGA		0.448	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		72.354486	-47	-47	81	81	NM_002072		25	73.613242	73.613242	45	0.357143	1	0	2.14196e-07	1	2.20889e-07	25	45	0.357143
ST18	9705	broad.mit.edu	37	8	53030985	53030985	+	Silent	SNP	T	T	C			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr8:53030985T>C	ENST00000276480.7	-	24	3455	c.2772A>G	c.(2770-2772)gaA>gaG	p.E924E		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	924					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				GCCTAATTTCTTCATCACTCT	0.308																																						ENST00000276480.7											0			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						c.(2770-2772)gaA>gaG	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)						142.0	137.0	139.0					8																	53030985		2202	4297	6499	SO:0001819	synonymous_variant	9705				nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53030985T>C	AB011107	AB011107	CCDS6149.1	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	"""Zinc fingers, C2HC-type containing"""	18695	18695	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""	"""neural zinc finger transcription factor 3"""			"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387	"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	15489893	Standard	Standard	NM_014682	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	uc003xra.2	O60284	O60284	OTTHUMG00000164233	OTTHUMG00000164233	ENST00000276480.7:c.2772A>G	8.37:g.53030985T>C				p.E924E	NM_014682.2	NP_055497.1	O60284	ST18_HUMAN			24	3455	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	924		Q17RY1	Silent	SNP	ENST00000276480.7	37	c.2772A>G	CCDS6149.1																																																																																									0.308	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		-12.337843	-23	-23	70	70			3	6.745674	6.745674	79	0.036585	0	0	0	1	0	3	79	0.036585
COL9A2	1298	broad.mit.edu	37	1	40771434	40771434	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:40771434G>A	ENST00000372748.3	-	21	1156	c.1060C>T	c.(1060-1062)Ccg>Tcg	p.P354S	COL9A2_ENST00000466267.1_5'Flank	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	354	Triple-helical region 3 (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			TGCGGGCCCGGCTCACCCTGC	0.602																																						ENST00000372748.3											0			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22						c.(1060-1062)Ccg>Tcg	collagen, type IX, alpha 2						40.0	42.0	41.0					1																	40771434		2203	4300	6503	SO:0001583	missense	1298			axon guidance|skeletal system development	collagen type IX		g.chr1:40771434G>A	M95610	M95610	CCDS450.1	CCDS450.1	1p33-p32	2013-01-16			2013-01-16			ENSG00000049089	ENSG00000049089	ENSG00000049089	ENSG00000049089		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2218	2218	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			120260	120260		EDM2		EDM2		8454052, 8528240, 1429648	8454052, 8528240, 1429648	Standard	Standard	NM_001852	NM_001852		Approved	MED	uc001cfh.1	uc001cfh.1	Q14055	Q14055	OTTHUMG00000005761	OTTHUMG00000005761	ENST00000372748.3:c.1060C>T	1.37:g.40771434G>A	ENSP00000361834:p.Pro354Ser			p.P354S	NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)		21	1156	-	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	354	Triple-helical region 3 (COL3).	B2RMP9	Missense_Mutation	SNP	ENST00000372748.3	37	c.1060C>T	CCDS450.1	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866352	0.32977	.	.	ENSG00000049089	ENST00000372748	D	0.92965	-3.14	5.82	5.82	0.92795	5.82	5.82	0.92795	.	0.106109	0.64402	D	0.000003	D	0.94241	0.8151	L	0.60067	1.865	0.53688	D	0.999973	D	0.61080	0.989	P	0.60117	0.869	D	0.92703	0.6176	10	0.33141	T	0.24	.	17.5892	0.87991	0.0:0.0:1.0:0.0	.	354	Q14055	CO9A2_HUMAN	S	354	ENSP00000361834:P354S	ENSP00000361834:P354S	P	-	1	0	0	COL9A2	40544021	40544021	0.996000	0.38824	0.998000	0.56505	0.283000	0.27025	2.259000	0.43259	2.767000	0.95098	0.655000	0.94253	CCG		0.602	COL9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015764.3		0.198722	-35	-35	36	36	NM_001852		3	6.549482	6.549482	33	0.083333	0	0	0	1	0	3	33	0.083333
IPO4	79711	ucsc.edu	37	14	24648841	24648841	+	IGR	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr14:24648841C>T	ENST00000354464.6	-	0	3646				REC8_ENST00000559919.1_Missense_Mutation_p.P453S|REC8_ENST00000559939.1_3'UTR|REC8_ENST00000311457.3_Missense_Mutation_p.P453S	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TCCTGCATTGCCCGTGGTGCC	0.622																																																	0																	69.0	80.0	76.0					14																	24648841		2128	4234	6362	SO:0001628	intergenic_variant	9985							AF411122	AF006264	CCDS9616.1	CCDS41932.1	14q11.2	2003-03-10			2013-08-06	2013-08-06	2007-04-03	ENSG00000196497	ENSG00000196497		ENSG00000100918		"""Importins"""		19426	16879	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product				608193			"""REC8-like 1 (yeast)"", ""REC8 homolog (yeast)"""	REC8L1		11823430	10207075, 15935783, 12759374	Standard	Standard	NR_051979	NM_005132		Approved	Imp4, FLJ23338	uc001wmv.1	uc001wms.3	Q8TEX9	O95072	OTTHUMG00000028801			14.37:g.24648841C>T																		B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	ENST00000354464.6	37		CCDS9616.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.501840	0.64298	.	.	ENSG00000100918	ENST00000311457;ENST00000447460	T	0.24151	1.87	5.53	5.53	0.82687	5.53	5.53	0.82687	.	0.277767	0.35525	N	0.003145	T	0.34687	0.0906	L	0.34521	1.04	0.34748	D	0.731463	D;D	0.67145	0.996;0.994	P;P	0.61477	0.889;0.777	T	0.35699	-0.9778	10	0.35671	T	0.21	-7.605	12.7355	0.57220	0.0:0.835:0.165:0.0	.	437;454	O95072-2;O95072	.;REC8_HUMAN	S	453;436	ENSP00000308699:P453S	ENSP00000308699:P453S	P	+	1	0	0	REC8	23718681	23718681	1.000000	0.71417	0.977000	0.42913	0.621000	0.37620	2.601000	0.46249	2.627000	0.88993	0.456000	0.33151	CCC		0.622	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071931.4			-26	-26	60	60	NM_024658		4			35							4	35	
NOD2	64127	broad.mit.edu	37	16	50757249	50757249	+	Missense_Mutation	SNP	G	G	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr16:50757249G>A	ENST00000300589.2	+	9	2941	c.2836G>A	c.(2836-2838)Gcc>Acc	p.A946T		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	946					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)				GGGTGCCCAAGCCTTGGCACT	0.507																																						ENST00000300589.2											0			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(2836-2838)Gcc>Acc	nucleotide-binding oligomerization domain containing 2						150.0	117.0	128.0					16																	50757249		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.chr16:50757249G>A	AF178930	AF178930	CCDS10746.1	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	5331	protein-coding gene	gene with protein product	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"""	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	7809109, 8587604	Standard	Standard	XM_005256084	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	uc002egm.1	Q9HC29	Q9HC29	OTTHUMG00000133171	OTTHUMG00000133171	ENST00000300589.2:c.2836G>A	16.37:g.50757249G>A	ENSP00000300589:p.Ala946Thr			p.A946T	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			9	2941	+		all_cancers(37;0.0156)	946		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.2836G>A	CCDS10746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.7|20.7	4.035405|4.035405	0.75617|0.75617	.|.	.|.	ENSG00000167207|ENSG00000167207	ENST00000526417;ENST00000300589;ENST00000431240|ENST00000534057	T|.	0.55413|.	0.52|.	5.76|5.76	5.76|5.76	0.90799|0.90799	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.078127|.	0.51477|.	D|.	0.000094|.	T|T	0.79125|0.79125	0.4393|0.4393	M|M	0.84773|0.84773	2.715|2.715	0.47065|0.47065	D|D	0.999301|0.999301	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.91635|.	0.997;0.999|.	T|T	0.80710|0.80710	-0.1261|-0.1261	10|5	0.40728|.	T|.	0.16|.	.|.	15.4739|15.4739	0.75461|0.75461	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	919;946|.	Q9HC29-2;Q9HC29|.	.;NOD2_HUMAN|.	T|N	919;946;86|157	ENSP00000300589:A946T|.	ENSP00000300589:A946T|.	A|S	+|+	1|2	0|0	0|0	NOD2|NOD2	49314750|49314750	49314750|49314750	0.999000|0.999000	0.42202|0.42202	0.951000|0.951000	0.38953|0.38953	0.334000|0.334000	0.28698|0.28698	3.732000|3.732000	0.55021|0.55021	2.732000|2.732000	0.93576|0.93576	0.655000|0.655000	0.94253|0.94253	GCC|AGC		0.507	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2		29.942697	-13	-13	22	22	NM_022162		10	30.341515	30.341515	17	0.370370	0	0	0	1	0	10	17	0.37037
BRCA2	675	broad.mit.edu	37	13	32945119	32945119	+	Missense_Mutation	SNP	A	A	T	rs544212043		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr13:32945119A>T	ENST00000380152.3	+	20	8747	c.8514A>T	c.(8512-8514)ttA>ttT	p.L2838F	BRCA2_ENST00000544455.1_Missense_Mutation_p.L2838F			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2838					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CATCTGGATTATACATATTTC	0.373			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(8512-8514)ttA>ttT	breast cancer 2, early onset						84.0	82.0	82.0					13																	32945119		2203	4300	6503	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32945119A>T	U43746	U43746	CCDS9344.1	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618	ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	"""Fanconi anemia, complementation groups"""	1101	1101	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	8091231, 7581463, 15057823	Standard	Standard	NM_000059	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	uc001uub.1	P51587	P51587	OTTHUMG00000017411	OTTHUMG00000017411	ENST00000380152.3:c.8514A>T	13.37:g.32945119A>T	ENSP00000369497:p.Leu2838Phe		BRCA2_ENST00000380152.3_Missense_Mutation_p.L2838F	p.L2838F	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	20	8741	+		Lung SC(185;0.0262)	2838		O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	c.8514A>T	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	11.22	1.573775	0.28092	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.59364	0.27;0.27	5.1	-0.309	0.12769	5.1	-0.309	0.12769	Nucleic acid-binding, OB-fold-like (1);Tower (1);	0.828622	0.10977	N	0.613109	T	0.46464	0.1394	L	0.47716	1.5	0.25184	N	0.990187	B	0.25390	0.125	B	0.29598	0.104	T	0.37220	-0.9715	10	0.23891	T	0.37	.	7.4138	0.27032	0.2368:0.341:0.4222:0.0	.	2838	P51587	BRCA2_HUMAN	F	2838	ENSP00000369497:L2838F;ENSP00000439902:L2838F	ENSP00000369497:L2838F	L	+	3	2	2	BRCA2	31843119	31843119	0.000000	0.05858	0.985000	0.45067	0.996000	0.88848	-1.057000	0.03486	-0.071000	0.12886	0.397000	0.26171	TTA		0.373	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		47.689012	-18	-18	43	43	NM_000059		16	48.408471	48.408471	28	0.363636	0	0	0	1	0	16	28	0.363636
STYXL1	51657	broad.mit.edu	37	7	75625885	75625885	+	Silent	SNP	G	G	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:75625885G>A	ENST00000248600.1	-	9	1185	c.843C>T	c.(841-843)aaC>aaT	p.N281N	STYXL1_ENST00000431581.1_Silent_p.N281N|STYXL1_ENST00000340062.5_Silent_p.N185N|STYXL1_ENST00000359697.3_Silent_p.N281N|STYXL1_ENST00000360591.3_3'UTR|TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	281	Tyrosine-protein phosphatase.				intracellular signal transduction (GO:0035556)|protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GACACATGTTGTTTTTGCACT	0.478																																						ENST00000248600.1											0			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						c.(841-843)aaC>aaT	serine/threonine/tyrosine interacting-like 1						164.0	133.0	143.0					7																	75625885		2203	4300	6503	SO:0001819	synonymous_variant	51657			intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity	g.chr7:75625885G>A	AF069762	AF069762	CCDS5580.1	CCDS5580.1	7q11.23	2011-06-09	2005-09-22	2005-09-22	2011-06-09	2005-09-22	2005-09-22	ENSG00000127952	ENSG00000127952	ENSG00000127952	ENSG00000127952		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	18165	18165	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""dual specificity phosphatase 24 (putative)"""	DUSP24	"""dual specificity phosphatase 24 (putative)"""	DUSP24		9757831	9757831	Standard	Standard	NM_016086	NM_016086		Approved	MK-STYX	uc003uel.3	uc003uel.3	Q9Y6J8	Q9Y6J8	OTTHUMG00000130459	OTTHUMG00000130459	ENST00000248600.1:c.843C>T	7.37:g.75625885G>A			STYXL1_ENST00000431581.1_Silent_p.N281N|STYXL1_ENST00000340062.5_Silent_p.N185N|STYXL1_ENST00000359697.3_Silent_p.N281N|STYXL1_ENST00000360591.3_3'UTR	p.N281N	NM_016086.2	NP_057170.1	Q9Y6J8	STYL1_HUMAN			9	1185	-			281	Tyrosine-protein phosphatase.	Q9UBP1|Q9UK06|Q9UK07|Q9UKG2|Q9UKG3	Silent	SNP	ENST00000248600.1	37	c.843C>T	CCDS5580.1	.	.	.	.	.	.	.	.	.	.	G	14.33	2.502381	0.44455	.	.	ENSG00000127952	ENST00000404050;ENST00000454618	.	.	.	4.96	-0.315	0.12746	4.96	-0.315	0.12746	.	1.082260	0.07045	N	0.830932	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-1.8894	1.5846	0.02641	0.2395:0.2577:0.3712:0.1316	.	.	.	.	X	244;199	.	ENSP00000385904:Q244X	Q	-	1	0	0	STYXL1	75463821	75463821	0.796000	0.28864	0.296000	0.24974	0.946000	0.59487	0.947000	0.29082	-0.130000	0.11599	0.561000	0.74099	CAA		0.478	STYXL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344825.1		95.827466	-33	-33	57	57	NM_016086		31	95.860772	95.860772	28	0.525424	0	0	0	1	0	31	28	0.525424
C1orf86	199990	broad.mit.edu	37	1	2125233	2125233	+	Silent	SNP	G	G	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:2125233G>A	ENST00000378546.4	-	3	339	c.315C>T	c.(313-315)caC>caT	p.H105H	C1orf86_ENST00000378545.3_Silent_p.H208H|C1orf86_ENST00000400919.3_De_novo_Start_OutOfFrame|C1orf86_ENST00000487186.1_5'UTR	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	105					cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CTCCTGCCCCGTGAAGCAGCC	0.697																																						ENST00000400919.3											0			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4							chromosome 1 open reading frame 86						19.0	26.0	24.0					1																	2125233		2194	4292	6486	SO:0001819	synonymous_variant	199990						g.chr1:2125233G>A	AK126870	AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			2013-05-22			ENSG00000162585	ENSG00000162585	ENSG00000162585	ENSG00000162585				26428	26428	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			615183	615183						14702039	14702039	Standard	Standard	NM_182533	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	uc031pkt.1	Q6NZ36	Q6NZ36	OTTHUMG00000001404	OTTHUMG00000001404	ENST00000378546.4:c.315C>T	1.37:g.2125233G>A			C1orf86_ENST00000378545.3_Silent_p.H208H|C1orf86_ENST00000378546.4_Silent_p.H105H|C1orf86_ENST00000487186.1_5'UTR		NM_001282671.1	NP_001269600.1	Q6NZ36	CA086_HUMAN		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)	0	306	-	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-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)			A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Translation_Start_Site	SNP	ENST00000378546.4	37		CCDS38.2	.	.	.	.	.	.	.	.	.	.	G	8.403	0.842324	0.16963	.	.	ENSG00000162585	ENST00000378543;ENST00000420515	T	0.46451	0.87	3.47	-6.65	0.01795	3.47	-6.65	0.01795	.	.	.	.	.	T	0.25158	0.0611	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31251	-0.9950	8	0.87932	D	0	-0.0172	4.798	0.13282	0.5643:0.0:0.1606:0.2751	.	101	Q6ZRT9	.	M	60;105	ENSP00000367804:T60M	ENSP00000367804:T60M	T	-	2	0	0	C1orf86	2115093	2115093	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-4.202000	0.00275	-1.480000	0.01865	-0.521000	0.04368	ACG		0.697	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1		35.962752	-21	-21	29	29	NM_182533		13	37.181361	37.181361	28	0.317073	0	0	0	1	0	13	28	0.317073
HOXA4	3201	broad.mit.edu	37	7	27168859	27168859	+	Silent	SNP	A	A	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:27168859A>T	ENST00000360046.5	-	2	1013	c.948T>A	c.(946-948)gtT>gtA	p.V316V	HOXA3_ENST00000521401.1_Intron|HOXA-AS3_ENST00000518848.1_RNA|HOXA4_ENST00000428284.2_Silent_p.V316V|HOXA-AS2_ENST00000521687.1_RNA|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000317201.2_5'Flank|HOXA-AS2_ENST00000517550.1_RNA	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	316					anatomical structure morphogenesis (GO:0009653)|anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system morphogenesis (GO:0048704)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						tggaggagggaacgggtgtgg	0.572																																						ENST00000360046.5											0			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						c.(946-948)gtT>gtA	homeobox A4						87.0	97.0	94.0					7																	27168859		2203	4300	6503	SO:0001819	synonymous_variant	3201				nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:27168859A>T			CCDS5405.1	CCDS5405.1	7p15.2	2011-06-20	2005-12-22		2011-06-20	2005-12-22		ENSG00000197576	ENSG00000197576	ENSG00000197576	ENSG00000197576		"""Homeoboxes / ANTP class : HOXL subclass"""	"""Homeoboxes / ANTP class : HOXL subclass"""	5105	5105	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			142953	142953	"""homeo box A4"""	HOX1D, HOX1	"""homeo box A4"""	HOX1D, HOX1		1973146, 1358459	1973146, 1358459	Standard	Standard	NM_002141	NM_002141		Approved		uc003sym.4	uc003sym.4	Q00056	Q00056	OTTHUMG00000023213	OTTHUMG00000023213	ENST00000360046.5:c.948T>A	7.37:g.27168859A>T			HOXA4_ENST00000428284.2_Silent_p.V316V|HOXA-AS2_ENST00000521159.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA3_ENST00000521401.1_Intron	p.V316V	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN			2	1013	-			316		A4D180|O43366	Silent	SNP	ENST00000360046.5	37	c.948T>A	CCDS5405.1	.	.	.	.	.	.	.	.	.	.	A	3.350	-0.132749	0.06711	.	.	ENSG00000197576	ENST00000511914	.	.	.	5.42	1.4	0.22301	5.42	1.4	0.22301	.	.	.	.	.	T	0.43809	0.1264	.	.	.	0.36697	D	0.87992	.	.	.	.	.	.	T	0.40739	-0.9547	4	.	.	.	.	3.2044	0.06661	0.4841:0.0:0.334:0.1819	.	.	.	.	T	136	.	.	S	-	1	0	0	HOXA4	27135384	27135384	0.999000	0.42202	0.976000	0.42696	0.813000	0.45954	1.349000	0.33998	0.464000	0.27142	0.529000	0.55759	TCC		0.572	HOXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059534.4		19.889726	-10	-10	39	39			8	20.747266	20.747266	18	0.307692	0	0	0	1	0	8	18	0.307692
FAM71F1	84691	broad.mit.edu	37	7	128363345	128363345	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:128363345C>T	ENST00000315184.5	+	4	835	c.782C>T	c.(781-783)gCc>gTc	p.A261V	FAM71F1_ENST00000469348.1_3'UTR|FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	261								p.A261V(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CAGATTTTTGCCGACTTACAC	0.502																																						ENST00000315184.5											1	Substitution - Missense(1)	prostate(1)	NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						c.(781-783)gCc>gTc	family with sequence similarity 71, member F1						118.0	116.0	117.0					7																	128363345		2203	4300	6503	SO:0001583	missense	84691						g.chr7:128363345C>T	AF367470	AF367470	CCDS5804.1, CCDS64763.1	CCDS5804.1, CCDS64763.1	7q32.1	2007-11-20	2007-11-20	2007-11-20	2007-11-20	2007-11-20	2007-11-20	ENSG00000135248	ENSG00000135248	ENSG00000135248	ENSG00000135248				30704	30704	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""family with sequence similarity 137, member A"""	FAM137A	"""family with sequence similarity 137, member A"""	FAM137A		12477932	12477932	Standard	Standard	XM_005250645	XM_005250645		Approved	NYD-SP18	uc003vno.1	uc003vno.1	Q96KD3	Q96KD3	OTTHUMG00000158276	OTTHUMG00000158276	ENST00000315184.5:c.782C>T	7.37:g.128363345C>T	ENSP00000326652:p.Ala261Val		FAM71F1_ENST00000485070.1_Missense_Mutation_p.A162V|FAM71F1_ENST00000469348.1_3'UTR	p.A261V	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN			4	835	+			261		Q8IY75|Q8NA48	Missense_Mutation	SNP	ENST00000315184.5	37	c.782C>T	CCDS5804.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.717581	0.48622	.	.	ENSG00000135248	ENST00000485070;ENST00000315184;ENST00000466842	T;T;T	0.24151	1.87;3.23;1.92	5.2	3.36	0.38483	5.2	3.36	0.38483	.	0.643829	0.14692	N	0.304119	T	0.17365	0.0417	L	0.33485	1.01	0.26152	N	0.980124	B;B;B;B;B	0.18310	0.011;0.01;0.003;0.002;0.027	B;B;B;B;B	0.15052	0.012;0.006;0.004;0.002;0.006	T	0.17992	-1.0351	10	0.30854	T	0.27	-2.5683	6.5261	0.22303	0.1782:0.7313:0.0:0.0905	.	153;261;261;261;162	B4DY15;F8WC62;Q96KD3-2;Q96KD3;Q8NA48	.;.;.;F71F1_HUMAN;.	V	162;261;117	ENSP00000418192:A162V;ENSP00000326652:A261V;ENSP00000417930:A117V	ENSP00000326652:A261V	A	+	2	0	0	FAM71F1	128150581	128150581	0.133000	0.22466	0.998000	0.56505	0.995000	0.86356	0.071000	0.14594	0.862000	0.35528	0.555000	0.69702	GCC		0.502	FAM71F1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350544.2		-10.770608	-28	-28	68	68	NM_032599		4	8.088225	8.088225	82	0.046512	0	0	0	1	0	4	82	0.046512
MAPKBP1	23005	broad.mit.edu	37	15	42117611	42117611	+	Missense_Mutation	SNP	C	C	T	rs533499391		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr15:42117611C>T	ENST00000456763.2	+	32	4718	c.4522C>T	c.(4522-4524)Cgg>Tgg	p.R1508W	MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1385W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1341W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R1225W|PLA2G4B_ENST00000542534.2_5'Flank|JMJD7_ENST00000408047.1_5'Flank|MAPKBP1_ENST00000457542.2_Missense_Mutation_p.R1502W|JMJD7-PLA2G4B_ENST00000342159.4_5'Flank|JMJD7-PLA2G4B_ENST00000382448.4_5'Flank|RP11-23P13.4_ENST00000512295.1_RNA|RP11-23P13.4_ENST00000510176.1_RNA|JMJD7_ENST00000397299.4_5'Flank	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	1508										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGCCGTGGAACGGCGTATGGA	0.587													c|||	1	0.000199681	0.0008	0.0	5008	,	,		19087	0.0		0.0	False		,,,				2504	0.0					ENST00000457542.2											0			breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(4504-4506)Cgg>Tgg	mitogen-activated protein kinase binding protein 1						30.0	29.0	30.0					15																	42117611		2203	4300	6503	SO:0001583	missense	23005						g.chr15:42117611C>T	AB011168	AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802	ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	"""WD repeat domain containing"""	29536	29536	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product					"""mitogen activated protein kinase binding protein 1"""		"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	9628581, 10471813	Standard	Standard	NM_014994	NM_014994		Approved	KIAA0596	uc001zok.4	uc001zok.4	O60336	O60336	OTTHUMG00000160227	OTTHUMG00000160227	ENST00000456763.2:c.4522C>T	15.37:g.42117611C>T	ENSP00000393099:p.Arg1508Trp		RP11-23P13.4_ENST00000510176.1_RNA|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R1225W|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R1385W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R1341W|MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R1508W	p.R1502W	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)	31	4790	+		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)	1508		A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Missense_Mutation	SNP	ENST00000456763.2	37	c.4504C>T	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	.	17.86	3.492570	0.64074	.	.	ENSG00000137802	ENST00000457542;ENST00000221214;ENST00000260357;ENST00000456763;ENST00000514566	T;T;T;T;T	0.63096	0.28;0.31;-0.02;0.33;0.14	4.64	3.68	0.42216	4.64	3.68	0.42216	.	0.281258	0.30800	N	0.008860	T	0.75079	0.3801	M	0.67397	2.05	0.30984	N	0.72215	D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.986;1.0;1.0	P;P;P;P;D;D	0.87578	0.781;0.855;0.763;0.636;0.969;0.998	T	0.75619	-0.3255	10	0.87932	D	0	-5.3019	12.1831	0.54223	0.3021:0.6979:0.0:0.0	.	1341;1383;1341;1225;1508;1502	F8WC21;O60336-3;B4DYK7;O60336-2;O60336;O60336-6	.;.;.;.;MABP1_HUMAN;.	W	1502;1385;1341;1508;1225	ENSP00000397570:R1502W;ENSP00000221214:R1385W;ENSP00000260357:R1341W;ENSP00000393099:R1508W;ENSP00000426154:R1225W	ENSP00000221214:R1385W	R	+	1	2	2	MAPKBP1	39904903	39904903	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	1.579000	0.36536	2.409000	0.81822	0.655000	0.94253	CGG		0.587	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1		82.918470	-9	-9	10	10	NM_014994		24	86.360584	86.360584	4	0.857143	0	0	0	1	0	24	4	0.857143
NCAM1	4684	broad.mit.edu	37	11	113102955	113102955	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr11:113102955C>T	ENST00000533760.1	+	10	1519	c.920C>T	c.(919-921)aCc>aTc	p.T307I	NCAM1_ENST00000316851.7_Missense_Mutation_p.T425I|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.T434I	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	435					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTGAACATCACCTGCGAGGTA	0.512																																						ENST00000316851.7											0			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49						c.(1273-1275)aCc>aTc	neural cell adhesion molecule 1						65.0	66.0	65.0					11																	113102955		1978	4173	6151	SO:0001583	missense	4684			axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane		g.chr11:113102955C>T			CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			2013-02-11			ENSG00000149294	ENSG00000149294	ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	7656	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			116930	116930								Standard	Standard	NM_000615	NM_000615		Approved	NCAM, CD56	uc021qqp.1	uc021qqp.1	P13591	P13591	OTTHUMG00000167196	OTTHUMG00000167196	ENST00000533760.1:c.920C>T	11.37:g.113102955C>T	ENSP00000473281:p.Thr307Ile		NCAM1_ENST00000533760.1_Missense_Mutation_p.T307I|NCAM1_ENST00000401611.2_Missense_Mutation_p.T434I|NCAM1_ENST00000397957.4_3'UTR	p.T425I	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)	10	1274	+		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)	435	Ig-like C2-type 5.	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37	c.1274C>T		.	.	.	.	.	.	.	.	.	.	C	24.4	4.531194	0.85706	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.69040	-0.37;-0.37	5.51	5.51	0.81932	5.51	5.51	0.81932	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.060472	0.64402	U	0.000004	D	0.83547	0.5278	.	.	.	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.999	D;D;D;D	0.76575	0.984;0.97;0.982;0.988	D	0.85038	0.0921	9	0.87932	D	0	-29.2533	19.7829	0.96424	0.0:1.0:0.0:0.0	.	435;425;435;425	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	I	307;434;425	ENSP00000384055:T434I;ENSP00000318472:T425I	ENSP00000318472:T425I	T	+	2	0	0	NCAM1	112608165	112608165	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.991000	0.63883	2.758000	0.94735	0.460000	0.39030	ACC		0.512	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2		32.519216	-23	-23	23	23	NM_000615		11	32.80049	32.800490	17	0.392857	0	0	0	1	0	11	17	0.392857
DMXL1	1657	broad.mit.edu	37	5	118469695	118469695	+	Silent	SNP	C	C	T	rs141146454	byFrequency	TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr5:118469695C>T	ENST00000311085.8	+	12	2156	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D	DMXL1_ENST00000539542.1_Silent_p.D692D	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	692										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCACTGTTGACGTGGCATTTC	0.428													C|||	4	0.000798722	0.0	0.0014	5008	,	,		20704	0.0		0.002	False		,,,				2504	0.001					ENST00000311085.8											0			breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(2074-2076)gaC>gaT	Dmx-like 1	C		1,4403	2.1+/-5.4	0,1,2201	122.0	119.0	120.0		2076	-2.6	0.0	5	dbSNP_134	120	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	DMXL1	NM_005509.4		0,5,6497	TT,TC,CC		0.0465,0.0227,0.0384		692/3028	118469695	5,12999	2202	4300	6502	SO:0001819	synonymous_variant	1657						g.chr5:118469695C>T	AJ005821	AJ005821	CCDS4125.1, CCDS75289.1	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			2013-01-10			ENSG00000172869	ENSG00000172869	ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	"""WD repeat domain containing"""	2937	2937	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			605671	605671						10708522	10708522	Standard	Standard	NM_005509	NM_005509		Approved		uc003ksd.2	uc003ksd.2	Q9Y485	Q9Y485	OTTHUMG00000128898	OTTHUMG00000128898	ENST00000311085.8:c.2076C>T	5.37:g.118469695C>T			DMXL1_ENST00000539542.1_Silent_p.D692D	p.D692D	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	12	2156	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	692			Silent	SNP	ENST00000311085.8	37	c.2076C>T	CCDS4125.1																																																																																									0.428	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1		143.937543	-10	-10	114	114	NM_005509		46	144.23893	144.238930	58	0.442308	0	0	0	1	0	46	58	0.442308
GNAQ	2776	broad.mit.edu	37	9	80537256	80537256	+	Nonsense_Mutation	SNP	C	C	A			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr9:80537256C>A	ENST00000286548.4	-	2	364	c.142G>T	c.(142-144)Gga>Tga	p.G48*		NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	48					action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CCACTCTCTCCTGTCCCTGAA	0.448			Mis		uveal melanoma																																	ENST00000286548.4		Dom	yes		9	9q21	2776	"""guanine nucleotide binding protein (G protein), q polypeptide"""		E	0			NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(142-144)Gga>Tga	guanine nucleotide binding protein (G protein), q polypeptide						162.0	152.0	156.0					9																	80537256		2203	4300	6503	SO:0001587	stop_gained	2776			activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80537256C>A			CCDS6658.1	CCDS6658.1	9q21	2010-03-17			2010-03-17			ENSG00000156052	ENSG00000156052	ENSG00000156052	ENSG00000156052				4390	4390	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600998	600998						8825633	8825633	Standard	Standard	NM_002072	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	uc004akw.3	P50148	P50148	OTTHUMG00000020059	OTTHUMG00000020059	ENST00000286548.4:c.142G>T	9.37:g.80537256C>A	ENSP00000286548:p.Gly48*			p.G48*	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN			2	364	-			48		O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Nonsense_Mutation	SNP	ENST00000286548.4	37	c.142G>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	C	39	7.540765	0.98348	.	.	ENSG00000156052	ENST00000286548;ENST00000411677	.	.	.	5.87	5.87	0.94306	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	.	.	.	X	48;19	.	ENSP00000286548:G48X	G	-	1	0	0	GNAQ	79727076	79727076	1.000000	0.71417	0.997000	0.53966	0.961000	0.63080	7.818000	0.86416	2.780000	0.95670	0.655000	0.94253	GGA		0.448	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		70.378349	-47	-47	79	79	NM_002072		24	71.78905	71.789050	45	0.347826	1	0	1.74197e-06	1	1.74197e-06	24	45	0.347826
SULF2	55959	broad.mit.edu	37	20	46295178	46295178	+	Missense_Mutation	SNP	A	A	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr20:46295178A>T	ENST00000359930.4	-	12	2482	c.1631T>A	c.(1630-1632)gTg>gAg	p.V544E	SULF2_ENST00000467815.1_Missense_Mutation_p.V544E|SULF2_ENST00000484875.1_Missense_Mutation_p.V544E|SULF2_ENST00000361612.4_Missense_Mutation_p.V544E	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	544					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCTGCCGTCCACCTCGATGGC	0.627																																						ENST00000359930.4											0			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1630-1632)gTg>gAg	sulfatase 2						91.0	84.0	87.0					20																	46295178		2203	4300	6503	SO:0001583	missense	55959			bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46295178A>T	AY101176	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			2008-05-14			ENSG00000196562	ENSG00000196562	ENSG00000196562	ENSG00000196562				20392	20392	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			610013	610013						12368295	12368295	Standard	Standard	NM_018837	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	uc002xto.3	Q8IWU5	Q8IWU5	OTTHUMG00000032675	OTTHUMG00000032675	ENST00000359930.4:c.1631T>A	20.37:g.46295178A>T	ENSP00000353007:p.Val544Glu		SULF2_ENST00000361612.4_Missense_Mutation_p.V544E|SULF2_ENST00000484875.1_Missense_Mutation_p.V544E|SULF2_ENST00000467815.1_Missense_Mutation_p.V544E	p.V544E	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN			12	2482	-			544		E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1631T>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	A	6.367	0.435806	0.12104	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.99014	-5.33;-5.33;-5.33;-5.33	4.6	2.29	0.28610	4.6	2.29	0.28610	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	1.329430	0.04621	N	0.401912	D	0.96929	0.8997	N	0.22421	0.69	0.32422	N	0.54928	B;B	0.28470	0.178;0.213	B;B	0.33339	0.048;0.162	D	0.93975	0.7253	10	0.41790	T	0.15	-3.2586	8.4626	0.32936	0.8315:0.0:0.1685:0.0	.	544;544	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	E	544	ENSP00000353007:V544E;ENSP00000418290:V544E;ENSP00000354662:V544E;ENSP00000418442:V544E	ENSP00000353007:V544E	V	-	2	0	0	SULF2	45728585	45728585	0.358000	0.24947	0.271000	0.24616	0.036000	0.12997	1.856000	0.39389	0.272000	0.22027	-0.400000	0.06385	GTG		0.627	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1		81.316729	-43	-43	60	60	NM_018837		27	81.945189	81.945189	41	0.397059	0	0	0	1	0	27	41	0.397059
FOXF2	2295	broad.mit.edu	37	6	1391338	1391338	+	Missense_Mutation	SNP	C	C	T			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr6:1391338C>T	ENST00000259806.1	+	1	1270	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	386					embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digestive tract development (GO:0048566)|epithelial to mesenchymal transition (GO:0001837)|establishment of planar polarity of embryonic epithelium (GO:0042249)|extracellular matrix organization (GO:0030198)|genitalia development (GO:0048806)|negative regulation of transcription, DNA-templated (GO:0045892)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CCAGAACGCTCGCGAGGACCT	0.677																																						ENST00000259806.1											0			large_intestine(2)|lung(5)|prostate(1)	8						c.(1156-1158)Cgc>Tgc	forkhead box F2						18.0	17.0	17.0					6																	1391338		2166	4236	6402	SO:0001583	missense	2295			epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr6:1391338C>T	U13220	U13220	CCDS4472.1	CCDS4472.1	6p25.3	2008-04-10			2008-04-10			ENSG00000137273	ENSG00000137273	ENSG00000137273	ENSG00000137273		"""Forkhead boxes"""	"""Forkhead boxes"""	3810	3810	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603250	603250		FKHL6		FKHL6		9799607, 7957066	9799607, 7957066	Standard	Standard	NM_001452	NM_001452		Approved	FREAC2	uc003mtm.3	uc003mtm.3	Q12947	Q12947	OTTHUMG00000016243	OTTHUMG00000016243	ENST00000259806.1:c.1156C>T	6.37:g.1391338C>T	ENSP00000259806:p.Arg386Cys			p.R386C	NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.095)	1	1270	+	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)	386		Q5TGJ1|Q9UQ85	Missense_Mutation	SNP	ENST00000259806.1	37	c.1156C>T	CCDS4472.1	.	.	.	.	.	.	.	.	.	.	C	16.80	3.222901	0.58668	.	.	ENSG00000137273	ENST00000259806	D	0.93189	-3.18	4.58	4.58	0.56647	4.58	4.58	0.56647	.	0.177694	0.34268	N	0.004119	D	0.93903	0.8049	L	0.60455	1.87	0.80722	D	1	D	0.89917	1.0	P	0.57846	0.828	D	0.94263	0.7504	10	0.62326	D	0.03	.	16.1463	0.81575	0.0:1.0:0.0:0.0	.	386	Q12947	FOXF2_HUMAN	C	386	ENSP00000259806:R386C	ENSP00000259806:R386C	R	+	1	0	0	FOXF2	1336337	1336337	0.995000	0.38212	0.984000	0.44739	0.907000	0.53573	0.598000	0.24074	2.375000	0.81037	0.561000	0.74099	CGC		0.677	FOXF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043558.1		30.248096	-4	-4	20	20			10	30.259389	30.259389	9	0.526316	0	0	0	1	0	10	9	0.526316
TYRO3	7301	broad.mit.edu	37	15	41863798	41863798	+	Missense_Mutation	SNP	A	A	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr15:41863798A>G	ENST00000263798.3	+	14	1890	c.1666A>G	c.(1666-1668)Atc>Gtc	p.I556V	TYRO3_ENST00000559066.1_Missense_Mutation_p.I511V	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	556	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCTAGCTGACATCATTGCCTC	0.502																																						ENST00000263798.3											0			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(1666-1668)Atc>Gtc	TYRO3 protein tyrosine kinase						110.0	97.0	101.0					15																	41863798		2203	4300	6503	SO:0001583	missense	7301				integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41863798A>G	D50479	D50479	CCDS10080.1	CCDS10080.1	15q15.1-q21.1	2013-02-11			2013-02-11			ENSG00000092445	ENSG00000092445	ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	12446	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			600341	600341		RSE		RSE		7851890	7851890	Standard	Standard	NM_006293	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	uc001zof.2	Q06418	Q06418	OTTHUMG00000130341	OTTHUMG00000130341	ENST00000263798.3:c.1666A>G	15.37:g.41863798A>G	ENSP00000263798:p.Ile556Val		TYRO3_ENST00000559066.1_Missense_Mutation_p.I511V	p.I556V	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	14	1890	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	556	Protein kinase.	O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.1666A>G	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	A	18.07	3.542258	0.65198	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	D	0.82344	-1.6	6.16	6.16	0.99307	6.16	6.16	0.99307	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.43260	D	0.000581	T	0.81842	0.4908	N	0.25485	0.75	0.80722	D	1	P	0.46578	0.88	P	0.52031	0.688	T	0.79787	-0.1656	10	0.27082	T	0.32	-20.8649	16.8061	0.85666	1.0:0.0:0.0:0.0	.	556	Q06418	TYRO3_HUMAN	V	488;556	ENSP00000263798:I556V	ENSP00000263798:I556V	I	+	1	0	0	TYRO3	39651090	39651090	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	8.962000	0.93254	2.367000	0.80283	0.528000	0.53228	ATC		0.502	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2		146.962298	-5	-5	65	65			46	147.698694	147.698694	30	0.605263	0	0	0	1	0	46	30	0.605263
BZW2	28969	broad.mit.edu	37	7	16722416	16722416	+	Silent	SNP	A	A	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr7:16722416A>G	ENST00000433922.2	+	5	529	c.351A>G	c.(349-351)aaA>aaG	p.K117K	BZW2_ENST00000258761.3_Silent_p.K117K|BZW2_ENST00000452975.2_Silent_p.K117K|BZW2_ENST00000405202.1_Silent_p.K41K|BZW2_ENST00000432311.1_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	117					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TCTTCAATAAACTCATCAGGA	0.289																																						ENST00000433922.2											0			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15						c.(349-351)aaA>aaG	basic leucine zipper and W2 domains 2						46.0	49.0	48.0					7																	16722416		2200	4296	6496	SO:0001819	synonymous_variant	28969			cell differentiation|nervous system development|RNA metabolic process		protein binding	g.chr7:16722416A>G	AF083246	AF083246	CCDS5362.1	CCDS5362.1	7p21.3	2008-07-18			2008-07-18			ENSG00000136261	ENSG00000136261	ENSG00000136261	ENSG00000136261				18808	18808	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										11042152	11042152	Standard	Standard	NM_001159767	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	uc003stj.2	Q9Y6E2	Q9Y6E2	OTTHUMG00000130755	OTTHUMG00000130755	ENST00000433922.2:c.351A>G	7.37:g.16722416A>G			BZW2_ENST00000258761.3_Silent_p.K117K|BZW2_ENST00000432311.1_3'UTR|BZW2_ENST00000405202.1_Silent_p.K41K|BZW2_ENST00000452975.2_Silent_p.K117K	p.K117K	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.199)	5	529	+	Lung NSC(10;0.0367)|all_lung(11;0.0837)		117		A4D123|Q3B779|Q96JW5|Q9H3F7	Silent	SNP	ENST00000433922.2	37	c.351A>G	CCDS5362.1																																																																																									0.289	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253256.2		11.725608	-1	-1	42	42	NM_014038		6	16.421173	16.421173	34	0.150000	0	0	0	1	0	6	34	0.15
C1orf94	84970	broad.mit.edu	37	1	34663232	34663232	+	Missense_Mutation	SNP	T	T	C			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr1:34663232T>C	ENST00000488417.1	+	2	847	c.727T>C	c.(727-729)Ttc>Ctc	p.F243L	C1orf94_ENST00000373374.3_Missense_Mutation_p.F53L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	243										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				TCTGTCCCAGTTCCCACTGAA	0.547																																						ENST00000488417.1											0			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32						c.(727-729)Ttc>Ctc	chromosome 1 open reading frame 94						84.0	75.0	78.0					1																	34663232		2203	4300	6503	SO:0001583	missense	84970					protein binding	g.chr1:34663232T>C	AK123355	AK123355	CCDS381.1, CCDS44108.1	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			2012-06-26			ENSG00000142698	ENSG00000142698	ENSG00000142698	ENSG00000142698				28250	28250	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product										12477932	12477932	Standard	Standard	NM_001134734	NM_001134734		Approved	MGC15882	uc001bxt.3	uc001bxt.3	Q6P1W5	Q6P1W5	OTTHUMG00000004012	OTTHUMG00000004012	ENST00000488417.1:c.727T>C	1.37:g.34663232T>C	ENSP00000435634:p.Phe243Leu		C1orf94_ENST00000373374.3_Missense_Mutation_p.F53L	p.F243L	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN			2	847	+		Myeloproliferative disorder(586;0.0393)	53		B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	ENST00000488417.1	37	c.727T>C	CCDS44108.1	.	.	.	.	.	.	.	.	.	.	T	12.52	1.961276	0.34565	.	.	ENSG00000142698	ENST00000373374;ENST00000488417	T;T	0.23348	1.91;1.91	4.98	3.84	0.44239	4.98	3.84	0.44239	.	0.100155	0.44483	D	0.000451	T	0.16471	0.0396	N	0.24115	0.695	0.34708	D	0.727476	B	0.11235	0.004	B	0.14578	0.011	T	0.09729	-1.0661	10	0.49607	T	0.09	-19.8309	8.0269	0.30442	0.181:0.0:0.0:0.819	.	243	Q6P1W5	CA094_HUMAN	L	53;243	ENSP00000362472:F53L;ENSP00000435634:F243L	ENSP00000362472:F53L	F	+	1	0	0	C1orf94	34435819	34435819	1.000000	0.71417	0.983000	0.44433	0.752000	0.42762	3.176000	0.50863	0.722000	0.32252	0.460000	0.39030	TTC		0.547	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036845.2		77.830932	-6	-6	46	46	NM_032884		23	78.027222	78.027222	17	0.575000	0	0	0	1	0	23	17	0.575
HEPN1	641654	broad.mit.edu	37	11	124789907	124789907	+	Silent	SNP	A	A	G			TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr11:124789907A>G	ENST00000408930.5	+	1	762	c.261A>G	c.(259-261)ttA>ttG	p.L87L	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	87						cytoplasm (GO:0005737)				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		TTTTGATGTTAGTGTGATTAG	0.547																																						ENST00000408930.5											0			large_intestine(1)|lung(1)|stomach(1)	3						c.(259-261)ttA>ttG	hepatocellular carcinoma, down-regulated 1						59.0	61.0	61.0					11																	124789907		1945	4142	6087	SO:0001819	synonymous_variant	641654				cytoplasm		g.chr11:124789907A>G	BC148521	BC148521	CCDS41729.1	CCDS41729.1	11q24	2013-07-02	2011-02-11		2013-07-02	2011-02-11		ENSG00000221932	ENSG00000221932	ENSG00000221932	ENSG00000221932				34400	34400	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""cancer susceptibility gene HEPN1"""	"""cancer susceptibility gene HEPN1"""	611641	611641	"""HEPACAM opposite strand 1"""		"""HEPACAM opposite strand 1"""			12971969, 23548416	12971969, 23548416	Standard	Standard	NM_001037558	NM_001037558		Approved		uc001qbj.1	uc001qbj.1	Q6WQI6	Q6WQI6	OTTHUMG00000165939	OTTHUMG00000165939	ENST00000408930.5:c.261A>G	11.37:g.124789907A>G			HEPACAM_ENST00000298251.4_3'UTR	p.L87L	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)	1	762	+	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)	87			Silent	SNP	ENST00000408930.5	37	c.261A>G	CCDS41729.1																																																																																									0.547	HEPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387129.1		54.436160	-25	-25	58	58	NM_001037558		18	55.408161	55.408161	33	0.352941	0	0	0	1	0	18	33	0.352941
BRCA2	675	broad.mit.edu	37	13	32945125	32945135	+	Frame_Shift_Del	DEL	ATTTCGCAATG	ATTTCGCAATG	-	rs80359105|rs80359104|rs80359107|rs397507989|rs397507990		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr13:32945125_32945135delATTTCGCAATG	ENST00000380152.3	+	20	8753_8763	c.8520_8530delATTTCGCAATG	c.(8518-8532)atatttcgcaatgaafs	p.FRNE2841fs	BRCA2_ENST00000544455.1_Frame_Shift_Del_p.FRNE2841fs			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2841					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.F2841I(2)|p.R2842C(1)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GATTATACATATTTCGCAATGAAAGAGAGGA	0.355			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)	ENST00000544455.1	yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	3	Substitution - Missense(3)	kidney(2)|oesophagus(1)	NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183	GRCh37	CD030579	BRCA2	D	rs80359107	c.(8518-8532)atatttcgcaatgaafs	breast cancer 2, early onset																																			SO:0001589	frameshift_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32945125_32945135delATTTCGCAATG	U43746	U43746	CCDS9344.1	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618	ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	"""Fanconi anemia, complementation groups"""	1101	1101	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	8091231, 7581463, 15057823	Standard	Standard	NM_000059	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	uc001uub.1	P51587	P51587	OTTHUMG00000017411	OTTHUMG00000017411	ENST00000380152.3:c.8520_8530delATTTCGCAATG	13.37:g.32945125_32945135delATTTCGCAATG	ENSP00000369497:p.Phe2841fs		BRCA2_ENST00000380152.3_Frame_Shift_Del_p.FRNE2841fs	p.FRNE2841fs	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	20	8747_8757	+		Lung SC(185;0.0262)	2841		O00183|O15008|Q13879|Q5TBJ7	Frame_Shift_Del	DEL	ENST00000380152.3	37	c.8520_8530delATTTCGCAATG	CCDS9344.1																																																																																									0.355	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	.	.	-8	-8	47	47	NM_000059		17			36	0.32						17	36	0.32
BAP1	8314	broad.mit.edu	37	3	52437427	52437448	+	Splice_Site	DEL	CCCACCTGTCAGCGCCAGGGGA	CCCACCTGTCAGCGCCAGGGGA	-	rs374920141		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr3:52437427_52437448delCCCACCTGTCAGCGCCAGGGGA	ENST00000460680.1	-	13	2184_2201	c.1713_1730delTCCCCTGGCGCTGACAGGTGGG	c.(1711-1731)agtcccctggcgctgacaggt>agt	p.PLALTG572fs	BAP1_ENST00000296288.5_Splice_Site_p.PLALTG554fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P572fs*69(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCC	0.595			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1711-1731)agtcccctggcgctgacaggt>agt	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001630	splice_region_variant	8314			monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr3:52437427_52437448delCCCACCTGTCAGCGCCAGGGGA	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1729+1TCCCCTGGCGCTGACAGGTGGG>-	3.37:g.52437427_52437448delCCCACCTGTCAGCGCCAGGGGA			BAP1_ENST00000296288.5_Splice_Site_p.PLALTG554fs	p.PLALTG572fs	NM_004656.2	NP_004647.1	Q92560	BAP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	2184_2201	-			572		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	DEL	ENST00000460680.1	37	c.1713_1730delTCCCCTGGCGCTGACAGGTGGG	CCDS2853.1																																																																																									0.595	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	.	.	-3	-3	39	39		Frame_Shift_Del	4			3	0.57						4	3	0.57
BAP1	8314	broad.mit.edu	37	3	52437426	52437448	+	Splice_Site	DEL	GCCCACCTGTCAGCGCCAGGGGA	GCCCACCTGTCAGCGCCAGGGGA	-	rs374920141		TCGA-VD-A8KI-01A-11D-A39W-08	TCGA-VD-A8KI-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c8d94ef-ded9-432d-bcd8-20beaf8e8ef6	8534bc2e-1fb6-4f5c-9b95-59691cece7c7	g.chr3:52437426_52437448delGCCCACCTGTCAGCGCCAGGGGA	ENST00000460680.1	-	13	2184_2201	c.1713_1730delTCCCCTGGCGCTGACAGGTGGGC	c.(1711-1731)agtcccctggcgctgacaggt>agt	p.PLALTG572fs	BAP1_ENST00000296288.5_Splice_Site_p.PLALTG554fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.P572fs*69(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		CCAGTCCAAGGCCCACCTGTCAGCGCCAGGGGACTCAGCACCC	0.596			"""N, Mis, F, S, O"""		"""uveal melanoma, breast, NSCLC, RCC"""	"""mesothelioma, uveal melanoma"""																															GBM(101;493 1458 7992 21037 25532)	ENST00000460680.1		Rec	yes		3	3p21.31-p21.2	8314	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)		E	1	Deletion - Frameshift(1)	eye(1)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180						c.(1711-1731)agtcccctggcgctgacaggt>agt	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)																																			SO:0001630	splice_region_variant	8314			anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	g.chr3:52437426_52437448delGCCCACCTGTCAGCGCCAGGGGA	AF045581	AF045581	CCDS2853.1	CCDS2853.1	3p21.31-p21.2	2014-09-17			2014-09-17			ENSG00000163930	ENSG00000163930	ENSG00000163930	ENSG00000163930				950	950	protein-coding gene	gene with protein product	protein-coding gene	gene with protein product			603089	603089						9528852	9528852	Standard	Standard	NM_004656	NM_004656		Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	uc003ddx.4	Q92560	Q92560	OTTHUMG00000158392	OTTHUMG00000158392	ENST00000460680.1:c.1729+1TCCCCTGGCGCTGACAGGTGGGC>-	3:g.52437426_52437448delGCCCACCTGTCAGCGCCAGGGGA			BAP1_ENST00000296288.5_Splice_Site_p.PLALTG554fs	p.PLALTG572fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	13	2184_2201	-			0		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Splice_Site	DEL	ENST00000460680.1		c.1713_1730delTCCCCTGGCGCTGACAGGTGGGC	CCDS2853.1																																																																																									0.596	BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	1.469000e+01	2.597000e+01	0	0	40	40		Frame_Shift_Del	6			1	8.570000e-01						6	1	0.857
