#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
C4B	721	broad.mit.edu	37	6	31997537	31997537	+	Missense_Mutation	SNP	C	C	T	rs574457656		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr6:31997537C>T	ENST00000435363.2	+	29	3955	c.3871C>T	c.(3871-3873)Cgt>Tgt	p.R1291C	C4B-AS1_ENST00000415626.1_RNA|C4B_ENST00000425700.2_Missense_Mutation_p.R1291C	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1291					complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|detection of molecule of bacterial origin (GO:0032490)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|opsonization (GO:0008228)|positive regulation of apoptotic cell clearance (GO:2000427)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|complement binding (GO:0001848)|endopeptidase inhibitor activity (GO:0004866)									Intravenous Immunoglobulin(DB00028)	CTGGCTCACCCGTCAGGGCAG	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		22514	0.0		0.001	False		,,,				2504	0.0					ENST00000435363.2																			0											c.(3871-3873)Cgt>Tgt		complement component 4B (Chido blood group)							75.0	74.0	75.0					6																	31997537		1509	2707	4216	SO:0001583	missense	721				complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity	g.chr6:31997537C>T	AF019413	CCDS47405.1	6p21.3	2014-09-17	2009-01-06		ENSG00000224389	ENSG00000224389		"""Blood group antigens"", ""Complement system"""	1324	protein-coding gene	gene with protein product		120820	"""complement component 4B"""				Standard	NM_001002029		Approved	CPAMD3, C4F, CO4, C4B1, C4B3, CH	uc011jpm.2	P0C0L5	OTTHUMG00000031187	ENST00000435363.2:c.3871C>T	6.37:g.31997537C>T	ENSP00000415941:p.Arg1291Cys					C4B_ENST00000425700.2_Missense_Mutation_p.R1291C	p.R1291C	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN			29	3955	+			1291					A2BHY4|P01028|P78445|Q13160|Q13906|Q14033|Q14835|Q6U2E9|Q6U2G1|Q6U2I5|Q6U2L1|Q6U2L7|Q6U2L9|Q6U2M5|Q6VCV8|Q96SA7|Q9NPK5|Q9UIP5	Missense_Mutation	SNP	ENST00000435363.2	37	c.3871C>T	CCDS47405.1	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298601	0.60195	.	.	ENSG00000224389	ENST00000435363;ENST00000425700	T;T	0.14766	2.48;2.48	4.76	3.83	0.44106	.	0.963237	0.08654	N	0.913458	T	0.22820	0.0551	M	0.82517	2.595	0.09310	N	1	D;D	0.63046	0.964;0.992	P;P	0.58970	0.711;0.849	T	0.07177	-1.0786	10	0.72032	D	0.01	.	9.5731	0.39440	0.209:0.7909:0.0:0.0	.	1291;1291	F5GXS0;Q6U2E9	.;.	C	1291	ENSP00000415941:R1291C;ENSP00000391933:R1291C	ENSP00000391933:R1291C	R	+	1	0	C4B	32105516	0.009000	0.17119	0.028000	0.17463	0.932000	0.56968	0.665000	0.25083	2.214000	0.71695	0.551000	0.68910	CGT		0.652	C4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076368.5	NM_001002029		10	165	0	0	0	1	0	10	165				
N4BP2L1	90634	broad.mit.edu	37	13	32972827	32972827	+	IGR	SNP	G	G	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr13:32972827G>C	ENST00000380130.2	-	0	3046				BRCA2_ENST00000544455.1_Missense_Mutation_p.E3393Q|BRCA2_ENST00000380152.3_Missense_Mutation_p.E3393Q|N4BP2L1_ENST00000459716.1_5'Flank	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		TCTGATCAAAGAACAGGAGAG	0.388																																						ENST00000544455.1										"""D, Mis, N, F, S"""						"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		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.(10177-10179)Gaa>Caa	Homologous recombination	breast cancer 2, early onset							66.0	64.0	64.0					13																	32972827		2203	4300	6503	SO:0001628	intergenic_variant	675	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			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.chr13:32972827G>C	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972827G>C		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.E3393Q	p.E3393Q	NM_000059.3	NP_000050.2	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)	27	10404	+		Lung SC(185;0.0262)	3393					A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	c.10177G>C	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	G	14.19	2.461452	0.43736	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00784	5.7;5.7	5.97	3.2	0.36748	.	1.431730	0.03948	N	0.288000	T	0.00815	0.0027	N	0.24115	0.695	0.09310	N	1	P	0.34462	0.454	B	0.32090	0.14	T	0.46373	-0.9196	10	0.36615	T	0.2	.	5.0071	0.14293	0.0795:0.1462:0.6229:0.1514	.	3393	P51587	BRCA2_HUMAN	Q	3393	ENSP00000369497:E3393Q;ENSP00000439902:E3393Q	ENSP00000369497:E3393Q	E	+	1	0	BRCA2	31870827	0.002000	0.14202	0.001000	0.08648	0.332000	0.28634	1.220000	0.32491	0.840000	0.34995	0.655000	0.94253	GAA		0.388	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		18	76	0	0	0	1	0	18	76				
HMGB3	3149	broad.mit.edu	37	X	150156360	150156360	+	Silent	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination (GO:0006310)|multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443																																						ENST00000325307.7																			1	Substitution - coding silent(1)	p.E192E(1)	large_intestine(1)	endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8						c.(574-576)gaG>gaA		high mobility group box 3							50.0	48.0	49.0					X																	150156360		2202	4299	6501	SO:0001819	synonymous_variant	3149				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	g.chrX:150156360G>A	AF274572	CCDS35428.1	Xq28	2011-07-01	2011-04-05	2002-08-16	ENSG00000029993	ENSG00000029993		"""High-mobility group / Canonical"""	5004	protein-coding gene	gene with protein product	"""non-histone chromosomal protein"""	300193	"""high-mobility group (nonhistone chromosomal) protein 4"", ""high-mobility group box 3"""	HMG4		9598312	Standard	XM_005274665		Approved	HMG2A, MGC90319	uc004fep.3	O15347	OTTHUMG00000024162	ENST00000325307.7:c.576G>A	X.37:g.150156360G>A						HMGB3_ENST00000448905.2_Silent_p.E192E	p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN			5	672	+	Acute lymphoblastic leukemia(192;6.56e-05)		192			Asp/Glu-rich (acidic).		O95556|Q6NS40	Silent	SNP	ENST00000325307.7	37	c.576G>A	CCDS35428.1																																																																																				0.443	HMGB3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060867.1	NM_005342		5	155	0	0	0	1	0	5	155				
DDX60	55601	broad.mit.edu	37	4	169196507	169196507	+	Missense_Mutation	SNP	C	C	T	rs145382015		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr4:169196507C>T	ENST00000393743.3	-	16	2584	c.2293G>A	c.(2293-2295)Gac>Aac	p.D765N		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	765					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TGCCATGTGTCGGGAATAAAA	0.403																																						ENST00000393743.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63						c.(2293-2295)Gac>Aac		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60		C	ASN/ASP	0,4406		0,0,2203	78.0	80.0	79.0		2293	5.2	1.0	4	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	missense	DDX60	NM_017631.5	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	765/1713	169196507	1,13005	2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169196507C>T	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2293G>A	4.37:g.169196507C>T	ENSP00000377344:p.Asp765Asn						p.D765N	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	16	2584	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	765					Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.2293G>A	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261912	0.80358	0.0	1.16E-4	ENSG00000137628	ENST00000393743	T	0.29917	1.55	5.16	5.16	0.70880	DEAD-like helicase (1);	0.000000	0.64402	D	0.000002	T	0.51753	0.1693	M	0.89030	3	0.45676	D	0.998598	D	0.61080	0.989	P	0.49085	0.6	T	0.62835	-0.6770	10	0.51188	T	0.08	.	18.6194	0.91316	0.0:1.0:0.0:0.0	.	765	Q8IY21	DDX60_HUMAN	N	765	ENSP00000377344:D765N	ENSP00000377344:D765N	D	-	1	0	DDX60	169433082	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	4.921000	0.63397	2.557000	0.86248	0.563000	0.77884	GAC		0.403	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		4	127	0	0	0	1	0	4	127				
PPP1R10	5514	broad.mit.edu	37	6	30576880	30576880	+	Silent	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr6:30576880C>T	ENST00000376511.2	-	4	720	c.168G>A	c.(166-168)caG>caA	p.Q56Q	PPP1R10_ENST00000484449.1_5'Flank	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	56	Interaction with TOX4. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GTGAACGGGTCTGCAGGAGAA	0.488																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(166-168)caG>caA		protein phosphatase 1, regulatory subunit 10							109.0	106.0	107.0					6																	30576880		1511	2709	4220	SO:0001819	synonymous_variant	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30576880C>T	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.168G>A	6.37:g.30576880C>T							p.Q56Q	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			4	720	-			56			Interaction with TOX4 (By similarity).		O00405	Silent	SNP	ENST00000376511.2	37	c.168G>A	CCDS4681.1																																																																																				0.488	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		42	112	0	0	0	1	0	42	112				
SLC12A5	57468	broad.mit.edu	37	20	44683556	44683556	+	Splice_Site	SNP	A	A	G			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr20:44683556A>G	ENST00000454036.2	+	21	2799	c.2750A>G	c.(2749-2751)cAt>cGt	p.H917R	SLC12A5_ENST00000243964.3_Splice_Site_p.H894R	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	917					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCCCACAGCATGAGAGCGAC	0.547																																						ENST00000454036.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.e21-1		solute carrier family 12 (potassium/chloride transporter), member 5	Bumetanide(DB00887)|Potassium Chloride(DB00761)						110.0	89.0	96.0					20																	44683556		2203	4300	6503	SO:0001630	splice_region_variant	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44683556A>G	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2749-1A>G	20.37:g.44683556A>G						SLC12A5_ENST00000243964.3_Splice_Site_p.H894_splice	p.H917_splice	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN			21	2826	+		Myeloproliferative disorder(115;0.0122)	917					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Splice_Site	SNP	ENST00000454036.2	37	c.2748_splice	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	A	9.310	1.055304	0.19907	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.83163	-1.69;-1.69	4.08	4.08	0.47627	.	0.077476	0.49916	D	0.000122	T	0.78886	0.4354	M	0.67397	2.05	0.80722	D	1	B;B	0.30326	0.276;0.106	B;B	0.28916	0.096;0.061	T	0.74244	-0.3728	10	0.16420	T	0.52	.	12.3899	0.55352	1.0:0.0:0.0:0.0	.	917;894	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	R	917;894	ENSP00000387694:H917R;ENSP00000243964:H894R	ENSP00000243964:H894R	H	+	2	0	SLC12A5	44116963	1.000000	0.71417	0.999000	0.59377	0.351000	0.29236	9.095000	0.94175	1.705000	0.51264	0.374000	0.22700	CAT		0.547	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		Missense_Mutation	23	27	0	0	0	1	0	23	27				
PTGDS	5730	broad.mit.edu	37	9	139874684	139874684	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr9:139874684C>G	ENST00000371625.3	+	5	572	c.498C>G	c.(496-498)ttC>ttG	p.F166L	PTGDS_ENST00000224167.2_Missense_Mutation_p.F200L|LCNL1_ENST00000408973.2_5'Flank	NM_000954.5	NP_000945.3	P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	166					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|prostaglandin biosynthetic process (GO:0001516)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|rough endoplasmic reticulum (GO:0005791)	fatty acid binding (GO:0005504)|prostaglandin-D synthase activity (GO:0004667)|retinoid binding (GO:0005501)|transporter activity (GO:0005215)			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCACCGCCTTCTGCAAGGCCC	0.597																																						ENST00000224167.2																			0				endometrium(2)|kidney(1)|lung(3)|ovary(1)	7						c.(598-600)ttC>ttG		prostaglandin D2 synthase 21kDa (brain)							73.0	70.0	71.0					9																	139874684		2203	4300	6503	SO:0001583	missense	5730				prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity	g.chr9:139874684C>G	AA621632	CCDS7019.1	9q34.2-q34.3	2011-11-15	2002-08-29		ENSG00000107317	ENSG00000107317	5.3.99.2	"""Lipocalins"""	9592	protein-coding gene	gene with protein product	"""lipocalin-type prostaglandin D synthase"""	176803	"""prostaglandin D2 synthase (21kD, brain)"""			1902577	Standard	NM_000954		Approved	PGDS, L-PGDS	uc004cke.3	P41222	OTTHUMG00000020957	ENST00000371625.3:c.498C>G	9.37:g.139874684C>G	ENSP00000360687:p.Phe166Leu					PTGDS_ENST00000371625.3_Missense_Mutation_p.F166L	p.F200L			P41222	PTGDS_HUMAN	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	5	675	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	166					B2R727|Q5SQ10|Q7M4P3|Q9UC22|Q9UCC9|Q9UCD9	Missense_Mutation	SNP	ENST00000371625.3	37	c.600C>G	CCDS7019.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.26|13.26	2.182994|2.182994	0.38511|0.38511	.|.	.|.	ENSG00000107317|ENSG00000107317	ENST00000224167;ENST00000371625|ENST00000446677	T;T|.	0.08807|.	3.05;3.05|.	5.07|5.07	-6.75|-6.75	0.01738|0.01738	Calycin-like (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);|.	0.000000|.	0.64402|.	D|.	0.000002|.	T|T	0.51601|0.51601	0.1684|0.1684	M|M	0.68952|0.68952	2.095|2.095	0.09310|0.09310	N|N	0.999999|0.999999	D|.	0.63046|.	0.992|.	P|.	0.62560|.	0.904|.	T|T	0.56025|0.56025	-0.8047|-0.8047	10|5	0.44086|.	T|.	0.13|.	-34.2974|-34.2974	14.8681|14.8681	0.70434|0.70434	0.0:0.2331:0.0:0.7669|0.0:0.2331:0.0:0.7669	.|.	166|.	P41222|.	PTGDS_HUMAN|.	L|V	200;166|189	ENSP00000224167:F200L;ENSP00000360687:F166L|.	ENSP00000224167:F200L|.	F|L	+|+	3|1	2|2	PTGDS|PTGDS	138994505|138994505	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.223000|0.223000	0.24884|0.24884	-0.655000|-0.655000	0.05348|0.05348	-1.445000|-1.445000	0.01948|0.01948	-0.144000|-0.144000	0.13903|0.13903	TTC|CTG		0.597	PTGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055188.1	NM_000954		16	47	0	0	0	1	0	16	47				
RANBP2	5903	broad.mit.edu	37	2	109382704	109382704	+	Silent	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:109382704G>A	ENST00000283195.6	+	20	5835	c.5709G>A	c.(5707-5709)tcG>tcA	p.S1903S		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1903					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTGGCATTTCGGAACCAGGAA	0.403																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(5707-5709)tcG>tcA		RAN binding protein 2							84.0	101.0	95.0					2																	109382704		2189	4291	6480	SO:0001819	synonymous_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109382704G>A	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.5709G>A	2.37:g.109382704G>A							p.S1903S	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			20	5835	+			1903					Q13074|Q15280|Q53TE2|Q59FH7	Silent	SNP	ENST00000283195.6	37	c.5709G>A	CCDS2079.1																																																																																				0.403	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		113	388	0	0	0	1	0	113	388				
ZNF131	7690	broad.mit.edu	37	5	43174753	43174753	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr5:43174753G>A	ENST00000399534.1	+	7	1434	c.1390G>A	c.(1390-1392)Gaa>Aaa	p.E464K	ZNF131_ENST00000505606.2_Missense_Mutation_p.E430K|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.E430K|ZNF131_ENST00000509634.1_Missense_Mutation_p.E430K|ZNF131_ENST00000509156.1_Missense_Mutation_p.E464K			P52739	ZN131_HUMAN	zinc finger protein 131	464					regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGTGCAAACTGAACCTGTAAC	0.423																																						ENST00000509634.1																			0				breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						c.(1288-1290)Gaa>Aaa		zinc finger protein 131							116.0	108.0	111.0					5																	43174753		1976	4151	6127	SO:0001583	missense	7690					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr5:43174753G>A	U09410	CCDS43313.1	5p12	2013-01-09	2006-06-13		ENSG00000172262	ENSG00000172262		"""Zinc fingers, C2H2-type"", ""-"", ""BTB/POZ domain containing"""	12915	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 35"""	604073	"""zinc finger protein 131 (clone pHZ-10)"""				Standard	XM_005248359		Approved	ZBTB35, pHZ-10	uc003jnk.3	P52739	OTTHUMG00000162223	ENST00000399534.1:c.1390G>A	5.37:g.43174753G>A	ENSP00000382450:p.Glu464Lys					ZNF131_ENST00000505606.2_Missense_Mutation_p.E430K|ZNF131_ENST00000509156.1_Missense_Mutation_p.E464K|ZNF131_ENST00000399534.1_Missense_Mutation_p.E464K|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000306938.4_Missense_Mutation_p.E430K	p.E430K			P52739	ZN131_HUMAN			7	1744	+			464					B4DRL3|Q6PIF0	Missense_Mutation	SNP	ENST00000399534.1	37	c.1288G>A		.	.	.	.	.	.	.	.	.	.	G	16.69	3.192230	0.58017	.	.	ENSG00000172262	ENST00000509156;ENST00000306938;ENST00000399534;ENST00000505606;ENST00000509634	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	5.61	5.61	0.85477	.	0.248184	0.39544	N	0.001329	T	0.69187	0.3083	L	0.32530	0.975	0.36625	D	0.876007	P;P	0.46395	0.877;0.557	B;B	0.43194	0.411;0.295	T	0.69339	-0.5171	10	0.02654	T	1	-16.3134	19.6348	0.95726	0.0:0.0:1.0:0.0	.	464;430	P52739;P52739-2	ZN131_HUMAN;.	K	464;430;464;430;430	ENSP00000426504:E464K;ENSP00000305804:E430K;ENSP00000382450:E464K;ENSP00000423945:E430K;ENSP00000421246:E430K	ENSP00000305804:E430K	E	+	1	0	ZNF131	43210510	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.349000	0.73013	2.643000	0.89663	0.460000	0.39030	GAA		0.423	ZNF131-201	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000367982.1	NM_003432		29	124	0	0	0	1	0	29	124				
TTYH1	57348	broad.mit.edu	37	19	54930406	54930406	+	Silent	SNP	C	C	T	rs148537788		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:54930406C>T	ENST00000376530.3	+	2	334	c.231C>T	c.(229-231)ccC>ccT	p.P77P	TTYH1_ENST00000376531.3_Silent_p.P77P|TTYH1_ENST00000301194.4_Silent_p.P77P|TTYH1_ENST00000391739.3_Silent_p.P126P	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	77					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CCCCCGAGCCCCCCGGGTCCA	0.697																																						ENST00000301194.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(229-231)ccC>ccT		tweety family member 1		A	,,	1,4403		0,1,2201	28.0	34.0	32.0		231,231,231	-3.8	0.0	19	dbSNP_134	32	0,8590		0,0,4295	no	coding-synonymous,coding-synonymous,coding-synonymous	TTYH1	NM_001005367.2,NM_001201461.1,NM_020659.3	,,	0,1,6496	TT,TC,CC		0.0,0.0227,0.0077	,,	77/461,77/452,77/451	54930406	1,12993	2202	4295	6497	SO:0001819	synonymous_variant	57348				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity	g.chr19:54930406C>T	AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.231C>T	19.37:g.54930406C>T						TTYH1_ENST00000391739.3_Silent_p.P126P|TTYH1_ENST00000376531.3_Silent_p.P77P|TTYH1_ENST00000376530.3_Silent_p.P77P	p.P77P			Q9H313	TTYH1_HUMAN		GBM - Glioblastoma multiforme(193;0.0767)	2	353	+	Ovarian(34;0.19)		77					B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Silent	SNP	ENST00000376530.3	37	c.231C>T	CCDS12893.1																																																																																				0.697	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140498.1			16	47	0	0	0	1	0	16	47				
ANO7	50636	broad.mit.edu	37	2	242142813	242142813	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:242142813C>G	ENST00000274979.8	+	9	1054	c.951C>G	c.(949-951)ttC>ttG	p.F317L	ANO7_ENST00000402430.3_Missense_Mutation_p.F316L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	317					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						AAGTCCTTTTCCAGCACTGGG	0.687																																						ENST00000274979.8																			0				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						c.(949-951)ttC>ttG		anoctamin 7							30.0	28.0	29.0					2																	242142813		2188	4295	6483	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242142813C>G	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.951C>G	2.37:g.242142813C>G	ENSP00000274979:p.Phe317Leu					ANO7_ENST00000402430.3_Missense_Mutation_p.F316L	p.F317L	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN			9	1054	+			317					Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.951C>G	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	8.080	0.772084	0.16051	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.51325	0.71;0.71	3.11	3.11	0.35812	.	0.720175	0.12664	U	0.449337	T	0.32346	0.0826	N	0.16201	0.385	0.20489	N	0.999899	B	0.02656	0.0	B	0.04013	0.001	T	0.25572	-1.0128	10	0.48119	T	0.1	.	13.2925	0.60278	0.0:1.0:0.0:0.0	.	317	Q6IWH7	ANO7_HUMAN	L	317;316	ENSP00000274979:F317L;ENSP00000385418:F316L	ENSP00000274979:F317L	F	+	3	2	ANO7	241791486	0.000000	0.05858	0.014000	0.15608	0.005000	0.04900	0.899000	0.28417	1.445000	0.47624	0.313000	0.20887	TTC		0.687	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		4	11	0	0	0	1	0	4	11				
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr15:45848224G>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGCAGATTTTGTTTAGCTTTT	0.318																																						ENST00000409454.1																			0																																																			283651							g.chr15:45848224G>T																													15.37:g.45848224G>T														0	1219	+									RNA	SNP	ENST00000557965.1	37																																																																																						0.318	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			6	25	1	0	5.18039e-06	1	5.3475e-06	6	25				
ENTHD1	150350	broad.mit.edu	37	22	40139838	40139838	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr22:40139838C>T	ENST00000325157.6	-	7	1920	c.1670G>A	c.(1669-1671)cGt>cAt	p.R557H		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	557										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					AGCGATCGCACGTTTTACCTC	0.403																																						ENST00000325157.6																			0				breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32						c.(1669-1671)cGt>cAt		ENTH domain containing 1							134.0	115.0	121.0					22																	40139838		2203	4300	6503	SO:0001583	missense	150350							g.chr22:40139838C>T	AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.1670G>A	22.37:g.40139838C>T	ENSP00000317431:p.Arg557His						p.R557H	NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN			7	1920	-	Melanoma(58;0.0749)		557					B0QYD5|Q5H9F7|Q96LK3	Missense_Mutation	SNP	ENST00000325157.6	37	c.1670G>A	CCDS13998.1	.	.	.	.	.	.	.	.	.	.	C	4.371	0.068372	0.08436	.	.	ENSG00000176177	ENST00000325157	T	0.30448	1.53	5.76	-1.04	0.10068	.	0.894308	0.09705	N	0.766456	T	0.15522	0.0374	N	0.08118	0	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.26395	-1.0104	10	0.59425	D	0.04	-0.5837	9.4445	0.38688	0.0:0.4318:0.0:0.5682	.	557	Q8IYW4	ENTD1_HUMAN	H	557	ENSP00000317431:R557H	ENSP00000317431:R557H	R	-	2	0	ENTHD1	38469784	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.322000	0.08007	-0.094000	0.12374	0.655000	0.94253	CGT		0.403	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321302.1	NM_152512		17	65	0	0	0	1	0	17	65				
CLCC1	23155	broad.mit.edu	37	1	109477468	109477468	+	Missense_Mutation	SNP	C	C	T	rs144141792	byFrequency	TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:109477468C>T	ENST00000369971.2	-	11	1609	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	CLCC1_ENST00000369969.2_Missense_Mutation_p.A373T|CLCC1_ENST00000302500.4_Missense_Mutation_p.A373T|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369970.3_Missense_Mutation_p.A444T|CLCC1_ENST00000415331.1_Missense_Mutation_p.A444T|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000356970.2_Missense_Mutation_p.A494T|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000369968.2_Missense_Mutation_p.A309T|CLCC1_ENST00000348264.2_Missense_Mutation_p.A309T	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	494						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		ACAGGCTTGGCCGACTGGCTG	0.542													C|||	5	0.000998403	0.0038	0.0	5008	,	,		14057	0.0		0.0	False		,,,				2504	0.0					ENST00000369971.2																			0				autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14						c.(1480-1482)Gcc>Acc		chloride channel CLIC-like 1							111.0	100.0	104.0					1																	109477468		2203	4300	6503	SO:0001583	missense	23155					endoplasmic reticulum|Golgi apparatus|integral to membrane|nucleus		g.chr1:109477468C>T	AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1480G>A	1.37:g.109477468C>T	ENSP00000358988:p.Ala494Thr					CLCC1_ENST00000356970.2_Missense_Mutation_p.A494T|CLCC1_ENST00000348264.2_Missense_Mutation_p.A309T|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000302500.4_Missense_Mutation_p.A373T|CLCC1_ENST00000415331.1_Missense_Mutation_p.A444T|CLCC1_ENST00000369968.2_Missense_Mutation_p.A309T|CLCC1_ENST00000369969.2_Missense_Mutation_p.A373T|CLCC1_ENST00000369970.3_Missense_Mutation_p.A444T	p.A494T	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)	11	1609	-		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)	494					O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	ENST00000369971.2	37	c.1480G>A	CCDS41362.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	13.88	2.368141	0.42003	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.93	-0.554	0.11811	.	0.853716	0.10209	N	0.702319	T	0.09774	0.0240	L	0.31294	0.92	0.09310	N	1	B;B;B;B	0.24823	0.112;0.053;0.041;0.051	B;B;B;B	0.17722	0.019;0.019;0.011;0.012	T	0.28038	-1.0056	10	0.16896	T	0.51	-0.2236	2.233	0.04001	0.1189:0.4172:0.2595:0.2044	.	309;373;444;494	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	T	494;494;444;373;309;444;309;373	ENSP00000349456:A494T;ENSP00000358988:A494T;ENSP00000411591:A444T;ENSP00000358986:A373T;ENSP00000358985:A309T;ENSP00000358987:A444T;ENSP00000337243:A309T;ENSP00000306552:A373T	ENSP00000306552:A373T	A	-	1	0	CLCC1	109278991	0.000000	0.05858	0.000000	0.03702	0.257000	0.26127	-0.593000	0.05740	-0.095000	0.12351	-0.181000	0.13052	GCC		0.542	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032405.1	NM_015127		4	142	0	0	0	1	0	4	142				
CCNB3	85417	broad.mit.edu	37	X	50052279	50052279	+	Silent	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chrX:50052279G>A	ENST00000376042.1	+	6	1408	c.1110G>A	c.(1108-1110)aaG>aaA	p.K370K	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.K370K			Q8WWL7	CCNB3_HUMAN	cyclin B3	370					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TAGCCTTTAAGAAGAAGCCTA	0.458																																						ENST00000376042.1																			0				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75						c.(1108-1110)aaG>aaA		cyclin B3							72.0	61.0	65.0					X																	50052279		2203	4300	6503	SO:0001819	synonymous_variant	85417				cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	g.chrX:50052279G>A	AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.1110G>A	X.37:g.50052279G>A						CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.K370K|CCNB3_ENST00000348603.2_Intron	p.K370K			Q8WWL7	CCNB3_HUMAN			6	1408	+	Ovarian(276;0.236)		370					B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Silent	SNP	ENST00000376042.1	37	c.1110G>A	CCDS14331.1																																																																																				0.458	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1			18	70	0	0	0	1	0	18	70				
PLEK	5341	broad.mit.edu	37	2	68607996	68607996	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:68607996A>T	ENST00000234313.7	+	3	519	c.340A>T	c.(340-342)Acc>Tcc	p.T114S		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	114					actin cytoskeleton reorganization (GO:0031532)|blood coagulation (GO:0007596)|cell projection organization (GO:0030030)|cortical actin cytoskeleton organization (GO:0030866)|hematopoietic progenitor cell differentiation (GO:0002244)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of calcium-mediated signaling (GO:0050849)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of inositol phosphate biosynthetic process (GO:0010920)|phosphatidylinositol metabolic process (GO:0046488)|phospholipase C-inhibiting G-protein coupled receptor signaling pathway (GO:0030845)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of inositol-polyphosphate 5-phosphatase activity (GO:0010925)|positive regulation of integrin activation (GO:0033625)|positive regulation of platelet activation (GO:0010572)|protein kinase C signaling (GO:0070528)|protein secretion by platelet (GO:0070560)|regulation of cell diameter (GO:0060305)|ruffle organization (GO:0031529)|thrombin receptor signaling pathway (GO:0070493)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|membrane (GO:0016020)|ruffle membrane (GO:0032587)	phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CAGGAAATCTACCAGGAGGTC	0.463																																						ENST00000234313.7																			0				autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24						c.(340-342)Acc>Tcc		pleckstrin							143.0	136.0	139.0					2																	68607996		2203	4300	6503	SO:0001583	missense	5341				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding	g.chr2:68607996A>T	X07743	CCDS1887.1	2p13.3	2013-01-10			ENSG00000115956	ENSG00000115956		"""Pleckstrin homology (PH) domain containing"""	9070	protein-coding gene	gene with protein product		173570				2897630, 12054651	Standard	NM_002664		Approved	P47	uc002sen.4	P08567	OTTHUMG00000129562	ENST00000234313.7:c.340A>T	2.37:g.68607996A>T	ENSP00000234313:p.Thr114Ser						p.T114S	NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)	3	519	+		Ovarian(717;0.0129)	114					B2R9E8|Q53SU8|Q6FGM8|Q6FGQ1|Q8WV81	Missense_Mutation	SNP	ENST00000234313.7	37	c.340A>T	CCDS1887.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.865557	0.71949	.	.	ENSG00000115956	ENST00000234313	T	0.19806	2.12	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.41743	0.1172	L	0.59436	1.845	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.75020	0.985;0.985	T	0.09292	-1.0681	10	0.23891	T	0.37	.	16.1499	0.81605	1.0:0.0:0.0:0.0	.	132;114	Q59GZ2;P08567	.;PLEK_HUMAN	S	114	ENSP00000234313:T114S	ENSP00000234313:T114S	T	+	1	0	PLEK	68461500	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.962000	0.93254	2.220000	0.72140	0.533000	0.62120	ACC		0.463	PLEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251755.1	NM_002664		52	190	0	0	0	1	0	52	190				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		555	Substitution - Missense(555)	p.E542K(545)|p.E542Q(10)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1624-1626)Gaa>Aaa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178936082G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			19	59	0	0	0	1	0	19	59				
OR1L8	138881	broad.mit.edu	37	9	125330480	125330480	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr9:125330480T>C	ENST00000304865.2	-	1	358	c.277A>G	c.(277-279)Atc>Gtc	p.I93V		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	93						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCATAGGAGATGGTCTTCTTT	0.453																																						ENST00000304865.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(277-279)Atc>Gtc		olfactory receptor, family 1, subfamily L, member 8							77.0	78.0	78.0					9																	125330480		2203	4300	6503	SO:0001583	missense	138881				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125330480T>C		CCDS35124.1	9q33.2	2013-09-20			ENSG00000171496	ENSG00000171496		"""GPCR / Class A : Olfactory receptors"""	15110	protein-coding gene	gene with protein product							Standard	NM_001004454		Approved		uc004bmp.1	Q8NGR8	OTTHUMG00000020609	ENST00000304865.2:c.277A>G	9.37:g.125330480T>C	ENSP00000306607:p.Ile93Val						p.I93V	NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN			1	358	-			93					A3KFM3|B9EIR6|Q6IF15|Q96R79	Missense_Mutation	SNP	ENST00000304865.2	37	c.277A>G	CCDS35124.1	.	.	.	.	.	.	.	.	.	.	T	11.57	1.679512	0.29783	.	.	ENSG00000171496	ENST00000304865	T	0.05580	3.42	4.39	4.39	0.52855	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46145	D	0.000302	T	0.10680	0.0261	M	0.69523	2.12	0.25550	N	0.987091	B	0.27117	0.168	B	0.27262	0.078	T	0.08827	-1.0703	10	0.66056	D	0.02	-26.7302	13.1468	0.59467	0.0:0.0:0.0:1.0	.	93	Q8NGR8	OR1L8_HUMAN	V	93	ENSP00000306607:I93V	ENSP00000306607:I93V	I	-	1	0	OR1L8	124370301	1.000000	0.71417	0.989000	0.46669	0.875000	0.50365	3.690000	0.54713	2.009000	0.58944	0.369000	0.22263	ATC		0.453	OR1L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053939.1			23	59	0	0	0	1	0	23	59				
ZNF208	7757	broad.mit.edu	37	19	22157019	22157019	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:22157019T>A	ENST00000397126.4	-	4	965	c.817A>T	c.(817-819)Act>Tct	p.T273S	ZNF208_ENST00000599916.1_Intron|ZNF208_ENST00000601773.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	273					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TTATGTTTAGTAAGGATTGCA	0.358																																						ENST00000397126.4																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113						c.(817-819)Act>Tct		zinc finger protein 208							33.0	36.0	35.0					19																	22157019		2130	4252	6382	SO:0001583	missense	7757							g.chr19:22157019T>A	BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.817A>T	19.37:g.22157019T>A	ENSP00000380315:p.Thr273Ser					ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	p.T273S	NM_007153.3	NP_009084.2					4	965	-		all_lung(12;0.0961)|Lung NSC(12;0.103)							Missense_Mutation	SNP	ENST00000397126.4	37	c.817A>T	CCDS54240.1	.	.	.	.	.	.	.	.	.	.	T	1.243	-0.620718	0.03636	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.16743	2.32	2.89	-2.99	0.05497	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40384	-0.9566	8	0.08381	T	0.77	.	4.7709	0.13155	0.1484:0.4007:0.0:0.4508	.	273	O43345	ZN208_HUMAN	S	273	ENSP00000380315:T273S	ENSP00000380315:T273S	T	-	1	0	ZNF208	21948859	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.375000	0.07475	-1.541000	0.01727	-3.413000	0.00038	ACT		0.358	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464302.1	NM_007153		18	74	0	0	0	1	0	18	74				
MUM1L1	139221	broad.mit.edu	37	X	105451255	105451255	+	Silent	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chrX:105451255G>A	ENST00000357175.2	+	4	2479	c.1830G>A	c.(1828-1830)gtG>gtA	p.V610V	MUM1L1_ENST00000337685.2_Silent_p.V610V|MUM1L1_ENST00000372552.1_Silent_p.V610V	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	610						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGAAGTGGTGAAATATTTAC	0.333																																						ENST00000337685.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1828-1830)gtG>gtA		melanoma associated antigen (mutated) 1-like 1							40.0	36.0	37.0					X																	105451255		1842	4088	5930	SO:0001819	synonymous_variant	139221							g.chrX:105451255G>A	AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.1830G>A	X.37:g.105451255G>A						MUM1L1_ENST00000372552.1_Silent_p.V610V|MUM1L1_ENST00000357175.2_Silent_p.V610V	p.V610V	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN			5	2615	+			610					D3DUX2|Q49AS5|Q8N2C0|Q96MT6	Silent	SNP	ENST00000357175.2	37	c.1830G>A	CCDS55469.1																																																																																				0.333	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057795.1	NM_152423		9	32	0	0	0	1	0	9	32				
SS18	6760	broad.mit.edu	37	18	23619391	23619391	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr18:23619391G>C	ENST00000415083.2	-	6	692	c.637C>G	c.(637-639)Cag>Gag	p.Q213E	SS18_ENST00000539849.1_Missense_Mutation_p.Q131E|SS18_ENST00000269137.7_Missense_Mutation_p.Q213E|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000542743.1_Missense_Mutation_p.Q161E|SS18_ENST00000542420.2_Missense_Mutation_p.Q190E|SS18_ENST00000545952.1_Missense_Mutation_p.Q161E	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	213	Gln-rich.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)	p.Q213E(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					TTGTATTGCTGAGAAGGAGGC	0.408			T	"""SSX1,  SSX2"""	synovial sarcoma																																	ENST00000415083.2				Dom	yes		18	18q11.2	6760	T	"""synovial sarcoma translocation, chromosome 18"""			M	"""SSX1,  SSX2"""		synovial sarcoma	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	1	Substitution - Missense(1)	p.Q213E(1)	lung(1)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19						c.(637-639)Cag>Gag		synovial sarcoma translocation, chromosome 18							166.0	139.0	148.0					18																	23619391		2203	4300	6503	SO:0001583	missense	6760				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	g.chr18:23619391G>C	X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.637C>G	18.37:g.23619391G>C	ENSP00000414516:p.Gln213Glu					SS18_ENST00000545952.1_Missense_Mutation_p.Q161E|SS18_ENST00000542743.1_Missense_Mutation_p.Q161E|SS18_ENST00000539849.1_Missense_Mutation_p.Q131E|SS18_ENST00000269137.7_Missense_Mutation_p.Q213E|SS18_ENST00000542420.2_Missense_Mutation_p.Q190E|SS18_ENST00000585241.1_5'UTR	p.Q213E	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN			6	692	-	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)		213			Gln-rich.		B0YJ95|Q16404|Q4VAX1|Q9BXC6	Missense_Mutation	SNP	ENST00000415083.2	37	c.637C>G	CCDS32807.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489882	0.84962	.	.	ENSG00000141380	ENST00000415083;ENST00000269138;ENST00000269137;ENST00000542420;ENST00000542743;ENST00000539849;ENST00000545952	T;T;T;T;T	0.32023	1.51;1.48;1.5;1.47;1.5	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.37489	0.1005	L	0.54323	1.7	0.80722	D	1	B;B;P	0.50369	0.21;0.21;0.934	B;B;P	0.44422	0.031;0.046;0.449	T	0.20371	-1.0277	10	0.52906	T	0.07	-3.3663	19.3412	0.94342	0.0:0.0:1.0:0.0	.	161;213;213	B4E2J6;Q4VAX0;Q15532	.;.;SSXT_HUMAN	E	216;213;213;190;161;131;161	ENSP00000269137:Q213E;ENSP00000438066:Q190E;ENSP00000444551:Q161E;ENSP00000444647:Q131E;ENSP00000443097:Q161E	ENSP00000269137:Q213E	Q	-	1	0	SS18	21873389	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.398000	0.97281	2.657000	0.90304	0.655000	0.94253	CAG		0.408	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			25	115	0	0	0	1	0	25	115				
TALDO1	6888	broad.mit.edu	37	11	763501	763501	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr11:763501G>A	ENST00000319006.3	+	5	772	c.619G>A	c.(619-621)Gag>Aag	p.E207K	TALDO1_ENST00000528097.1_Missense_Mutation_p.E207K			P37837	TALDO_HUMAN	transaldolase 1	207					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GAAATCCTATGAGCCCCTGGA	0.612																																						ENST00000319006.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14						c.(619-621)Gag>Aag		transaldolase 1							101.0	107.0	105.0					11																	763501		2203	4300	6503	SO:0001583	missense	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:763501G>A		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.619G>A	11.37:g.763501G>A	ENSP00000321259:p.Glu207Lys					TALDO1_ENST00000528097.1_Missense_Mutation_p.E207K	p.E207K			P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	5	772	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	207					B2R8M2|O00751|Q8WV32|Q8WZ45	Missense_Mutation	SNP	ENST00000319006.3	37	c.619G>A	CCDS7712.1	.	.	.	.	.	.	.	.	.	.	G	15.85	2.954698	0.53293	.	.	ENSG00000177156	ENST00000319006;ENST00000528097	D;D	0.85629	-2.01;-2.01	4.8	4.8	0.61643	Aldolase-type TIM barrel (1);	0.047038	0.85682	N	0.000000	D	0.82701	0.5094	M	0.64260	1.97	0.80722	D	1	B;B	0.30146	0.079;0.27	B;B	0.26310	0.049;0.068	T	0.80388	-0.1403	10	0.27082	T	0.32	-5.3606	17.0162	0.86420	0.0:0.0:1.0:0.0	.	207;207	F2Z393;P37837	.;TALDO_HUMAN	K	207	ENSP00000321259:E207K;ENSP00000437098:E207K	ENSP00000321259:E207K	E	+	1	0	TALDO1	753501	1.000000	0.71417	0.935000	0.37517	0.884000	0.51177	9.262000	0.95591	2.384000	0.81235	0.313000	0.20887	GAG		0.612	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		56	221	0	0	0	1	0	56	221				
KIAA0754	643314	broad.mit.edu	37	1	39877390	39877390	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:39877390G>A	ENST00000530275.1	+	1	1240	c.1045G>A	c.(1045-1047)Gag>Aag	p.E349K	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	349										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCTCTAGTTGAGCTACAGAA	0.418																																						ENST00000530275.1																			0				central_nervous_system(1)|large_intestine(6)|skin(1)	8						c.(1045-1047)Gag>Aag		KIAA0754							83.0	79.0	80.0					1																	39877390		1873	4109	5982	SO:0001583	missense	643314							g.chr1:39877390G>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.1045G>A	1.37:g.39877390G>A	ENSP00000431179:p.Glu349Lys					MACF1_ENST00000545844.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000289893.4_Intron	p.E349K	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	1240	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	349					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.1045G>A		.	.	.	.	.	.	.	.	.	.	G	16.81	3.225409	0.58668	.	.	ENSG00000255103	ENST00000530275	D	0.86366	-2.11	5.14	5.14	0.70334	.	.	.	.	.	D	0.86952	0.6057	N	0.24115	0.695	0.09310	N	1	D	0.67145	0.996	P	0.60236	0.871	T	0.79288	-0.1865	9	0.87932	D	0	.	11.6449	0.51255	0.0:0.1326:0.73:0.1374	.	349	O94854	K0754_HUMAN	K	349	ENSP00000431179:E349K	ENSP00000431179:E349K	E	+	1	0	RP4-562N20.1	39649977	0.976000	0.34144	0.917000	0.36280	0.356000	0.29392	2.004000	0.40854	2.398000	0.81561	0.655000	0.94253	GAG		0.418	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		21	63	0	0	0	1	0	21	63				
EPHB4	2050	broad.mit.edu	37	7	100410411	100410411	+	Silent	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr7:100410411G>A	ENST00000358173.3	-	12	2544	c.2076C>T	c.(2074-2076)ctC>ctT	p.L692L	EPHB4_ENST00000360620.3_Silent_p.L692L|EPHB4_ENST00000477446.1_5'Flank	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	692	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|ephrin receptor signaling pathway (GO:0048013)|heart morphogenesis (GO:0003007)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGAACTCTGTGAGAATCATGA	0.617																																					GBM(200;2113 3072 25865 52728)	ENST00000358173.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47						c.(2074-2076)ctC>ctT		EPH receptor B4							83.0	79.0	80.0					7																	100410411		2203	4300	6503	SO:0001819	synonymous_variant	2050				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr7:100410411G>A	AY056047	CCDS5706.1	7q22	2013-02-11	2004-10-28		ENSG00000196411	ENSG00000196411		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3395	protein-coding gene	gene with protein product		600011	"""EphB4"""	HTK		8188704	Standard	NM_004444		Approved	Tyro11	uc003uwn.1	P54760	OTTHUMG00000157040	ENST00000358173.3:c.2076C>T	7.37:g.100410411G>A						EPHB4_ENST00000360620.3_Silent_p.L692L	p.L692L	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN			12	2544	-	Lung NSC(181;0.041)|all_lung(186;0.0581)		692			Protein kinase.		B5A970|B5A971|B5A972|Q7Z635|Q9BTA5|Q9BXP0	Silent	SNP	ENST00000358173.3	37	c.2076C>T	CCDS5706.1																																																																																				0.617	EPHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347222.1	NM_004444		15	55	0	0	0	1	0	15	55				
PALM2	114299	broad.mit.edu	37	9	112705410	112705410	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr9:112705410T>A	ENST00000374531.2	+	7	919	c.845T>A	c.(844-846)tTt>tAt	p.F282Y	AKAP2_ENST00000555236.1_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.F280Y|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.F314Y|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|PALM2_ENST00000448454.2_Missense_Mutation_p.F316Y	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	282					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						ACCATGATTTTTATGGGCTAC	0.512																																						ENST00000448454.2																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						c.(946-948)tTt>tAt		paralemmin 2							98.0	93.0	94.0					9																	112705410		2203	4300	6503	SO:0001583	missense	114299							g.chr9:112705410T>A	AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.845T>A	9.37:g.112705410T>A	ENSP00000363656:p.Phe282Tyr					PALM2_ENST00000374531.2_Missense_Mutation_p.F282Y|PALM2_ENST00000483909.1_Missense_Mutation_p.F280Y|PALM2_ENST00000314527.4_Missense_Mutation_p.F314Y|AKAP2_ENST00000510514.5_Intron|PALM2-AKAP2_ENST00000374530.3_Intron|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000302798.7_Intron	p.F316Y							8	947	+								A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	ENST00000374531.2	37	c.947T>A	CCDS35099.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.351416	0.82132	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000413420	T;T;T;T;T	0.32753	1.44;1.44;1.44;1.44;1.44	6.16	6.16	0.99307	.	.	.	.	.	T	0.58148	0.2102	M	0.80616	2.505	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.79108	0.992;0.977	T	0.58031	-0.7708	9	0.38643	T	0.18	.	15.9872	0.80168	0.0:0.0:0.0:1.0	.	282;316	Q8IXS6;D3YTA4	PALM2_HUMAN;.	Y	282;316;280;314;314	ENSP00000363656:F282Y;ENSP00000400206:F316Y;ENSP00000417525:F280Y;ENSP00000323805:F314Y;ENSP00000397839:F314Y	ENSP00000397839:F314Y	F	+	2	0	PALM2-AKAP2;PALM2	111745231	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.040000	0.89188	2.367000	0.80283	0.528000	0.53228	TTT		0.512	PALM2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053604.1	NM_001037293		22	67	0	0	0	1	0	22	67				
ANKRD36C	400986	broad.mit.edu	37	2	96521762	96521762	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:96521762T>A	ENST00000456556.1	-	63	4331	c.4247A>T	c.(4246-4248)aAg>aTg	p.K1416M	ANKRD36C_ENST00000420871.2_Missense_Mutation_p.K667M|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.K443M			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1416							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						TTTTAGAGCCTTTTGAAGGTC	0.388																																						ENST00000456556.1																			0				breast(1)|endometrium(8)|kidney(5)|lung(4)	18						c.(4246-4248)aAg>aTg		ankyrin repeat domain 36C																																				SO:0001583	missense	400986							g.chr2:96521762T>A	AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.4247A>T	2.37:g.96521762T>A	ENSP00000403302:p.Lys1416Met					ANKRD36C_ENST00000420871.2_Missense_Mutation_p.K667M|ANKRD36C_ENST00000419039.2_Missense_Mutation_p.K443M	p.K1416M							63	4331	-								C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	ENST00000456556.1	37	c.4247A>T		.	.	.	.	.	.	.	.	.	.	t	6.734	0.504176	0.12822	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039	T;T;T	0.17370	2.28;2.28;2.28	1.87	0.693	0.18056	.	.	.	.	.	T	0.27524	0.0676	L	0.56280	1.765	0.09310	N	0.999999	D	0.71674	0.998	P	0.62813	0.907	T	0.10064	-1.0646	9	0.72032	D	0.01	.	4.071	0.09882	0.0:0.3907:0.0:0.6093	.	1416	Q5JPF3	AN36C_HUMAN	M	667;1416;443	ENSP00000415231:K667M;ENSP00000403302:K1416M;ENSP00000407838:K443M	ENSP00000407838:K443M	K	-	2	0	AC073995.2	95885489	0.966000	0.33281	0.147000	0.22382	0.010000	0.07245	0.648000	0.24828	0.196000	0.20367	0.260000	0.18958	AAG		0.388	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000338799.2	NM_001010914		3	23	0	0	0	1	0	3	23				
HEATR1	55127	broad.mit.edu	37	1	236749198	236749198	+	Silent	SNP	G	G	T	rs140333539		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:236749198G>T	ENST00000366582.3	-	16	2085	c.1971C>A	c.(1969-1971)atC>atA	p.I657I	HEATR1_ENST00000366581.2_Silent_p.I657I	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	657					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTGCTACACCGATTAGTTTTC	0.348																																						ENST00000366582.3																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87						c.(1969-1971)atC>atA		HEAT repeat containing 1							106.0	97.0	100.0					1																	236749198		2203	4300	6503	SO:0001819	synonymous_variant	55127				rRNA processing	nucleolus|ribonucleoprotein complex	protein binding	g.chr1:236749198G>T	BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1971C>A	1.37:g.236749198G>T						HEATR1_ENST00000366581.2_Silent_p.I657I	p.I657I	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00117)		16	2085	-	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	657					Q5T3Q8|Q6P197|Q9NW23	Silent	SNP	ENST00000366582.3	37	c.1971C>A	CCDS31066.1																																																																																				0.348	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096635.1	XM_375853		15	51	1	0	1.3612e-06	1	1.42815e-06	15	51				
ASXL3	80816	broad.mit.edu	37	18	31325299	31325299	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr18:31325299G>C	ENST00000269197.5	+	12	5487	c.5487G>C	c.(5485-5487)aaG>aaC	p.K1829N		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1829					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ACCCCAAAAAGAGAGTAGCTA	0.473																																						ENST00000269197.5																			0				breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						c.(5485-5487)aaG>aaC		additional sex combs like 3 (Drosophila)							162.0	162.0	162.0					18																	31325299		1926	4123	6049	SO:0001583	missense	80816				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding	g.chr18:31325299G>C	AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5487G>C	18.37:g.31325299G>C	ENSP00000269197:p.Lys1829Asn						p.K1829N	NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN			12	5487	+			1829					Q6ZMX6|Q96MU3|Q9UFC5	Missense_Mutation	SNP	ENST00000269197.5	37	c.5487G>C	CCDS45847.1	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205714	0.58234	.	.	ENSG00000141431	ENST00000269197	T	0.24350	1.86	5.91	5.03	0.67393	.	.	.	.	.	T	0.21103	0.0508	L	0.27053	0.805	0.42816	D	0.993975	B	0.25390	0.125	B	0.17433	0.018	T	0.02683	-1.1124	9	0.66056	D	0.02	.	16.4421	0.83905	0.0:0.0:0.8676:0.1324	.	1829	Q9C0F0	ASXL3_HUMAN	N	1829	ENSP00000269197:K1829N	ENSP00000269197:K1829N	K	+	3	2	ASXL3	29579297	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.444000	0.66587	1.477000	0.48234	0.650000	0.86243	AAG		0.473	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			70	215	0	0	0	1	0	70	215				
TALDO1	6888	broad.mit.edu	37	11	763491	763491	+	Silent	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr11:763491G>A	ENST00000319006.3	+	5	762	c.609G>A	c.(607-609)aaG>aaA	p.K203K	TALDO1_ENST00000528097.1_Silent_p.K203K			P37837	TALDO_HUMAN	transaldolase 1	203					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		ACACCGACAAGAAATCCTATG	0.602																																						ENST00000319006.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14						c.(607-609)aaG>aaA		transaldolase 1							120.0	124.0	123.0					11																	763491		2203	4300	6503	SO:0001819	synonymous_variant	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:763491G>A		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.609G>A	11.37:g.763491G>A						TALDO1_ENST00000528097.1_Silent_p.K203K	p.K203K			P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	5	762	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	203					B2R8M2|O00751|Q8WV32|Q8WZ45	Silent	SNP	ENST00000319006.3	37	c.609G>A	CCDS7712.1																																																																																				0.602	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		57	237	0	0	0	1	0	57	237				
GNAI2	2771	broad.mit.edu	37	3	50289829	50289829	+	Splice_Site	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:50289829G>A	ENST00000313601.6	+	3	546	c.162G>A	c.(160-162)aaG>aaA	p.K54K	GNAI2_ENST00000451956.1_Splice_Site_p.K17K|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_Splice_Site_p.K2K|GNAI2_ENST00000266027.5_Splice_Site_p.K38K|GNAI2_ENST00000536647.1_5'UTR|GNAI2_ENST00000422163.1_Splice_Site_p.K38K	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	54					activation of MAPKK activity (GO:0000186)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|cell proliferation (GO:0008283)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of synaptic transmission (GO:0050805)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|regulation of calcium ion transport (GO:0051924)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|membrane raft (GO:0045121)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TGGCTATCAGGATCATCCACG	0.587																																						ENST00000313601.6																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16						c.e3-1		guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2							74.0	64.0	67.0					3																	50289829		2203	4300	6503	SO:0001630	splice_region_variant	2771				adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr3:50289829G>A	X04828	CCDS2813.1, CCDS54587.1, CCDS63642.1, CCDS63644.1	3p21.31	2010-08-27			ENSG00000114353	ENSG00000114353			4385	protein-coding gene	gene with protein product	"""GTP-binding regulatory protein Gi alpha-2 chain"""	139360		GNAI2B		3100330, 1733849	Standard	NM_001166425		Approved	GIP	uc003cyq.1	P04899	OTTHUMG00000156940	ENST00000313601.6:c.162-1G>A	3.37:g.50289829G>A						GNAI2_ENST00000440628.1_Splice_Site_p.K2_splice|GNAI2_ENST00000451956.1_Splice_Site_p.K17_splice|GNAI2_ENST00000266027.5_Splice_Site_p.K38_splice|GNAI2_ENST00000536647.1_5'UTR|GNAI2_ENST00000422163.1_Splice_Site_p.K38_splice|GNAI2_ENST00000491100.1_3'UTR	p.K54_splice	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)	3	546	+			54					B3KTZ0|B4DYA0|B4E2X5|Q6B6N3|Q8IZ71	Splice_Site	SNP	ENST00000313601.6	37	c.161_splice	CCDS2813.1																																																																																				0.587	GNAI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346688.1	NM_002070	Silent	19	61	0	0	0	1	0	19	61				
DNAH2	146754	broad.mit.edu	37	17	7699805	7699805	+	Silent	SNP	C	C	T	rs148588175	byFrequency	TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr17:7699805C>T	ENST00000572933.1	+	50	9158	c.7698C>T	c.(7696-7698)ttC>ttT	p.F2566F	DNAH2_ENST00000389173.2_Silent_p.F2566F			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2566	AAA 3. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCCGCATATTCGGCACCATGA	0.542																																						ENST00000572933.1																			0				NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189						c.(7696-7698)ttC>ttT		dynein, axonemal, heavy chain 2		C		6,4400	9.9+/-24.2	0,6,2197	95.0	80.0	85.0		7698	-4.2	0.9	17	dbSNP_134	85	0,8600		0,0,4300	no	coding-synonymous	DNAH2	NM_020877.2		0,6,6497	TT,TC,CC		0.0,0.1362,0.0461		2566/4428	7699805	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7699805C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.7698C>T	17.37:g.7699805C>T						DNAH2_ENST00000389173.2_Silent_p.F2566F	p.F2566F			Q9P225	DYH2_HUMAN			50	9158	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	2566			AAA 3 (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.7698C>T	CCDS32551.1																																																																																				0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		16	54	0	0	0	1	0	16	54				
EIF2A	83939	broad.mit.edu	37	3	150301645	150301645	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:150301645C>T	ENST00000460851.1	+	14	1814	c.1705C>T	c.(1705-1707)Cag>Tag	p.Q569*	EIF2A_ENST00000383043.3_Nonsense_Mutation_p.Q355*|SERP1_ENST00000479209.1_Intron|EIF2A_ENST00000482471.1_3'UTR|EIF2A_ENST00000273435.5_Nonsense_Mutation_p.Q564*|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000406576.3_Nonsense_Mutation_p.Q508*|EIF2A_ENST00000487799.1_Nonsense_Mutation_p.Q544*			Q9BY44	EIF2A_HUMAN	eukaryotic translation initiation factor 2A, 65kDa	569					positive regulation of signal transduction (GO:0009967)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)|ribosome assembly (GO:0042255)|SREBP signaling pathway (GO:0032933)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular space (GO:0005615)	ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)|tRNA binding (GO:0000049)			cervix(1)|endometrium(2)|kidney(1)|lung(3)	7		Melanoma(1037;0.0575)	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GGAGAAAATTCAGAAAGAAAC	0.328																																						ENST00000460851.1																			0				cervix(1)|endometrium(2)|kidney(1)|lung(3)	7						c.(1705-1707)Cag>Tag		eukaryotic translation initiation factor 2A, 65kDa							48.0	47.0	47.0					3																	150301645		1793	4074	5867	SO:0001587	stop_gained	83939				regulation of translation|ribosome assembly	eukaryotic translation initiation factor 2 complex	ribosome binding|translation initiation factor activity|tRNA binding	g.chr3:150301645C>T	AF212241	CCDS46935.1	3q25.1	2011-01-19	2006-01-24		ENSG00000144895	ENSG00000144895			3254	protein-coding gene	gene with protein product		609234				12133843, 1620067	Standard	NM_032025		Approved	EIF-2A	uc003eya.3	Q9BY44	OTTHUMG00000159775	ENST00000460851.1:c.1705C>T	3.37:g.150301645C>T	ENSP00000417229:p.Gln569*					EIF2A_ENST00000273435.5_Nonsense_Mutation_p.Q564*|EIF2A_ENST00000383043.3_Nonsense_Mutation_p.Q355*|SERP1_ENST00000490945.1_Intron|EIF2A_ENST00000487799.1_Nonsense_Mutation_p.Q544*|EIF2A_ENST00000406576.3_Nonsense_Mutation_p.Q508*|EIF2A_ENST00000482471.1_3'UTR|SERP1_ENST00000479209.1_Intron	p.Q569*			Q9BY44	EIF2A_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)		14	1814	+		Melanoma(1037;0.0575)	569					A8MPS6|B4DF96|B4DQ14|D3DNI9|Q5QTR2|Q7Z4E9|Q8NFM1|Q96EW9|Q96K81	Nonsense_Mutation	SNP	ENST00000460851.1	37	c.1705C>T	CCDS46935.1	.	.	.	.	.	.	.	.	.	.	C	37	6.292868	0.97449	.	.	ENSG00000144895	ENST00000487799;ENST00000460851;ENST00000406576;ENST00000273435;ENST00000383043	.	.	.	5.46	3.6	0.41247	.	0.139294	0.52532	D	0.000078	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.9424	8.7965	0.34883	0.1478:0.7752:0.0:0.0769	.	.	.	.	X	544;569;508;564;355	.	ENSP00000273435:Q564X	Q	+	1	0	EIF2A	151784335	1.000000	0.71417	0.951000	0.38953	0.986000	0.74619	2.907000	0.48743	1.304000	0.44892	0.591000	0.81541	CAG		0.328	EIF2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357259.2	NM_032025		8	28	0	0	0	1	0	8	28				
GRAP2	9402	broad.mit.edu	37	22	40364245	40364245	+	Missense_Mutation	SNP	A	A	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr22:40364245A>T	ENST00000344138.4	+	6	922	c.659A>T	c.(658-660)cAg>cTg	p.Q220L	GRAP2_ENST00000399090.2_Missense_Mutation_p.Q107L|GRAP2_ENST00000407075.3_Missense_Mutation_p.Q220L|GRAP2_ENST00000540310.1_Missense_Mutation_p.Q154L|GRAP2_ENST00000544756.1_Missense_Mutation_p.Q148L|GRAP2_ENST00000543252.1_Missense_Mutation_p.Q180L	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	220					cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						cccccacagcagcgatatctg	0.642																																						ENST00000344138.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(658-660)cAg>cTg		GRB2-related adaptor protein 2							51.0	41.0	44.0					22																	40364245		2203	4300	6503	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40364245A>T	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.659A>T	22.37:g.40364245A>T	ENSP00000339186:p.Gln220Leu					GRAP2_ENST00000399090.2_Missense_Mutation_p.Q107L|GRAP2_ENST00000540310.1_Missense_Mutation_p.Q154L|GRAP2_ENST00000544756.1_Missense_Mutation_p.Q148L|GRAP2_ENST00000407075.3_Missense_Mutation_p.Q220L|GRAP2_ENST00000543252.1_Missense_Mutation_p.Q180L	p.Q220L	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN			6	922	+			220					B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.659A>T	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	A	9.686	1.150522	0.21371	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.74526	-0.38;-0.85;1.47;0.9;2.03;-0.38	5.44	4.41	0.53225	.	2.911490	0.00728	N	0.000929	T	0.65386	0.2686	L	0.27053	0.805	0.39967	D	0.974743	B;B;B;B;B	0.33238	0.281;0.18;0.403;0.18;0.079	B;B;B;B;B	0.38803	0.081;0.035;0.282;0.146;0.035	T	0.56165	-0.8024	10	0.02654	T	1	-24.8294	8.0589	0.30621	0.9079:0.0:0.0921:0.0	.	107;220;154;194;220	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	L	220;180;194;154;148;107;220	ENSP00000339186:Q220L;ENSP00000446350:Q180L;ENSP00000444734:Q154L;ENSP00000442195:Q148L;ENSP00000382040:Q107L;ENSP00000385607:Q220L	ENSP00000339186:Q220L	Q	+	2	0	GRAP2	38694191	1.000000	0.71417	0.896000	0.35187	0.374000	0.29953	1.229000	0.32600	0.905000	0.36596	0.421000	0.28195	CAG		0.642	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810		7	37	0	0	0	1	0	7	37				
TALDO1	6888	broad.mit.edu	37	11	763465	763465	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr11:763465G>C	ENST00000319006.3	+	5	736	c.583G>C	c.(583-585)Gat>Cat	p.D195H	TALDO1_ENST00000528097.1_Missense_Mutation_p.D195H			P37837	TALDO_HUMAN	transaldolase 1	195					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GCGCATCCTTGATTGGCATGT	0.577																																						ENST00000319006.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14						c.(583-585)Gat>Cat		transaldolase 1							151.0	143.0	146.0					11																	763465		2203	4300	6503	SO:0001583	missense	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:763465G>C		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.583G>C	11.37:g.763465G>C	ENSP00000321259:p.Asp195His					TALDO1_ENST00000528097.1_Missense_Mutation_p.D195H	p.D195H			P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	5	736	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	195					B2R8M2|O00751|Q8WV32|Q8WZ45	Missense_Mutation	SNP	ENST00000319006.3	37	c.583G>C	CCDS7712.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433782	0.83776	.	.	ENSG00000177156	ENST00000319006;ENST00000528097	D;D	0.88586	-2.4;-2.4	4.96	4.04	0.47022	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.97031	0.9030	H	0.99507	4.6	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	D	0.98338	1.0537	10	0.87932	D	0	-23.5864	14.6336	0.68673	0.0:0.1469:0.8531:0.0	.	195;195	F2Z393;P37837	.;TALDO_HUMAN	H	195	ENSP00000321259:D195H;ENSP00000437098:D195H	ENSP00000321259:D195H	D	+	1	0	TALDO1	753465	1.000000	0.71417	0.996000	0.52242	0.957000	0.61999	9.262000	0.95591	1.216000	0.43427	0.491000	0.48974	GAT		0.577	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		58	258	0	0	0	1	0	58	258				
MYT1	4661	broad.mit.edu	37	20	62839353	62839353	+	Silent	SNP	A	A	G	rs370664533	byFrequency	TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr20:62839353A>G	ENST00000328439.1	+	7	1168	c.804A>G	c.(802-804)gaA>gaG	p.E268E	MYT1_ENST00000536311.1_Silent_p.E268E|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.E268E(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaagaggaggagg	0.572																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			2	Substitution - coding silent(2)	p.E268E(2)	prostate(1)|kidney(1)	breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(802-804)gaA>gaG		myelin transcription factor 1							19.0	19.0	19.0					20																	62839353		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839353A>G	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.804A>G	20.37:g.62839353A>G						MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E268E	p.E268E			Q01538	MYT1_HUMAN			7	1168	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		268			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.804A>G	CCDS13558.1																																																																																				0.572	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	27	0	0	0	1	0	3	27				
LAMB4	22798	broad.mit.edu	37	7	107688432	107688432	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr7:107688432G>A	ENST00000388781.3	-	28	4330	c.4247C>T	c.(4246-4248)aCg>aTg	p.T1416M	LAMB4_ENST00000205386.4_Missense_Mutation_p.T1416M|LAMB4_ENST00000388780.3_Missense_Mutation_p.T1416M	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1416	Domain I.				cell adhesion (GO:0007155)	basement membrane (GO:0005604)				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GAGGGCATTCGTTGAGAGGGT	0.532																																						ENST00000388781.3																			0				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						c.(4246-4248)aCg>aTg		laminin, beta 4							69.0	74.0	73.0					7																	107688432		2203	4300	6503	SO:0001583	missense	22798				cell adhesion	basement membrane		g.chr7:107688432G>A	AF028816	CCDS34732.1	7q31	2013-03-01			ENSG00000091128	ENSG00000091128		"""Laminins"""	6491	protein-coding gene	gene with protein product							Standard	NM_007356		Approved		uc010ljo.1	A4D0S4	OTTHUMG00000154874	ENST00000388781.3:c.4247C>T	7.37:g.107688432G>A	ENSP00000373433:p.Thr1416Met					LAMB4_ENST00000205386.4_Missense_Mutation_p.T1416M|LAMB4_ENST00000388780.3_Missense_Mutation_p.T1416M	p.T1416M	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN			28	4330	-			1416			Domain I.		A5PKU6|B2RTT3|B5MEB9|Q86TP7|Q86XN2|Q8NBX5	Missense_Mutation	SNP	ENST00000388781.3	37	c.4247C>T	CCDS34732.1	.	.	.	.	.	.	.	.	.	.	G	10.18	1.280443	0.23392	.	.	ENSG00000091128	ENST00000205386;ENST00000388781;ENST00000422975;ENST00000388780	T;T;T;T	0.32515	1.45;1.45;1.87;1.48	4.19	-1.05	0.10036	.	2.291920	0.01682	N	0.026223	T	0.21881	0.0527	N	0.08118	0	0.09310	N	1	D;D	0.61697	0.962;0.99	P;B	0.46543	0.52;0.27	T	0.22906	-1.0203	10	0.48119	T	0.1	.	8.6532	0.34046	0.0:0.1929:0.5639:0.2432	.	1416;1416	A4D0S4-3;A4D0S4	.;LAMB4_HUMAN	M	1416;1416;442;1416	ENSP00000205386:T1416M;ENSP00000373433:T1416M;ENSP00000416562:T442M;ENSP00000373432:T1416M	ENSP00000205386:T1416M	T	-	2	0	LAMB4	107475668	0.000000	0.05858	0.000000	0.03702	0.069000	0.16628	0.200000	0.17257	-0.464000	0.06963	-0.340000	0.08031	ACG		0.532	LAMB4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337442.1	XM_209857		7	166	0	0	0	1	0	7	166				
ACRC	93953	broad.mit.edu	37	X	70823900	70823900	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chrX:70823900G>A	ENST00000373695.1	+	7	1310	c.773G>A	c.(772-774)aGc>aAc	p.S258N	ACRC_ENST00000373696.3_Missense_Mutation_p.S258N			Q96QF7	ACRC_HUMAN	acidic repeat containing	258	Asp/Ser-rich.					nucleus (GO:0005634)		p.S258N(2)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.557																																						ENST00000373695.1																			2	Substitution - Missense(2)	p.S258N(2)	endometrium(2)	autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(772-774)aGc>aAc		acidic repeat containing							19.0	18.0	19.0					X																	70823900		1511	3123	4634	SO:0001583	missense	93953					nucleus		g.chrX:70823900G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.773G>A	X.37:g.70823900G>A	ENSP00000362799:p.Ser258Asn					ACRC_ENST00000373696.3_Missense_Mutation_p.S258N	p.S258N			Q96QF7	ACRC_HUMAN			7	1310	+	Renal(35;0.156)		258			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.773G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	g	0.024	-1.390008	0.01185	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.32023	1.47;1.47	0.14	-0.28	0.12886	.	.	.	.	.	T	0.10766	0.0263	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33007	-0.9885	9	0.14656	T	0.56	.	4.7735	0.13167	0.3324:0.0:0.6676:0.0	.	258	Q96QF7	ACRC_HUMAN	N	258	ENSP00000362800:S258N;ENSP00000362799:S258N	ENSP00000362799:S258N	S	+	2	0	ACRC	70740625	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.205000	0.09411	-1.206000	0.02641	-1.198000	0.01671	AGC		0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			7	255	0	0	0	1	0	7	255				
FBXO32	114907	broad.mit.edu	37	8	124515703	124515703	+	Splice_Site	SNP	C	C	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr8:124515703C>A	ENST00000517956.1	-	9	1170		c.e9-1		FBXO32_ENST00000443022.2_Splice_Site	NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	F-box protein 32						cellular response to dexamethasone stimulus (GO:0071549)|protein ubiquitination (GO:0016567)|response to denervation involved in regulation of muscle adaptation (GO:0014894)	nucleolus (GO:0005730)|Z disc (GO:0030018)				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GGTCAGTGCCCTGGAAAGGAA	0.468																																						ENST00000517956.1																			0				autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21						c.e9-1		F-box protein 32							97.0	84.0	89.0					8																	124515703		2203	4300	6503	SO:0001630	splice_region_variant	114907							g.chr8:124515703C>A	AJ420108	CCDS6345.1, CCDS56553.1	8q24.13	2008-01-28	2004-06-15		ENSG00000156804	ENSG00000156804		"""F-boxes /  ""other"""""	16731	protein-coding gene	gene with protein product		606604	"""F-box only protein 32"""			11679633, 11717410	Standard	NM_058229		Approved	MAFbx, ATROGIN1, Fbx32	uc003yqr.3	Q969P5	OTTHUMG00000164981	ENST00000517956.1:c.979-1G>T	8.37:g.124515703C>A						FBXO32_ENST00000443022.2_Splice_Site		NM_058229.3|NM_148177.2	NP_478136.1|NP_680482.1	Q969P5	FBX32_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		9	1170	-	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)							A4KYM0	Splice_Site	SNP	ENST00000517956.1	37		CCDS6345.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.429033	0.83667	.	.	ENSG00000156804	ENST00000517956;ENST00000443022	.	.	.	6.04	6.04	0.98038	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBXO32	124584884	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.666000	0.83877	2.873000	0.98535	0.561000	0.74099	.		0.468	FBXO32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381281.1		Intron	4	59	1	0	2.56e-06	1	2.66407e-06	4	59				
COL20A1	57642	broad.mit.edu	37	20	61943054	61943054	+	Silent	SNP	G	G	A	rs369260236		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr20:61943054G>A	ENST00000358894.6	+	13	1717	c.1617G>A	c.(1615-1617)ctG>ctA	p.L539L	COL20A1_ENST00000422202.1_Silent_p.L546L|COL20A1_ENST00000326996.6_Silent_p.L539L|COL20A1_ENST00000435874.1_Silent_p.L546L	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	539	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					TGCAGAGCCTGCGAGGCCCTG	0.697																																						ENST00000422202.1																			0				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36						c.(1636-1638)ctG>ctA		collagen, type XX, alpha 1							16.0	23.0	21.0					20																	61943054		2050	4192	6242	SO:0001819	synonymous_variant	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61943054G>A	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.1617G>A	20.37:g.61943054G>A						COL20A1_ENST00000326996.6_Silent_p.L539L|COL20A1_ENST00000435874.1_Silent_p.L546L|COL20A1_ENST00000358894.6_Silent_p.L539L	p.L546L			Q9P218	COKA1_HUMAN			12	1706	+	all_cancers(38;1.39e-10)		539			Fibronectin type-III 3.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	ENST00000358894.6	37	c.1638G>A	CCDS46628.1																																																																																				0.697	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		11	13	0	0	0	1	0	11	13				
CD300LF	146722	broad.mit.edu	37	17	72691256	72691256	+	Nonsense_Mutation	SNP	G	G	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr17:72691256G>T	ENST00000326165.6	-	7	963	c.852C>A	c.(850-852)taC>taA	p.Y284*	CD300LF_ENST00000343125.4_3'UTR|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000361254.4_3'UTR|CD300LF_ENST00000301573.9_3'UTR|CD300LF_ENST00000583937.1_Nonsense_Mutation_p.Y299*|CD300LF_ENST00000469092.1_3'UTR|CD300LF_ENST00000464910.1_Nonsense_Mutation_p.Y287*|RAB37_ENST00000340415.3_Intron	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	284					immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGATGGTGCTGTATTCCGTGG	0.637																																						ENST00000326165.6																			0				endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						c.(850-852)taC>taA		CD300 molecule-like family member f							74.0	63.0	67.0					17																	72691256		2203	4300	6503	SO:0001587	stop_gained	146722					integral to membrane|plasma membrane	receptor activity	g.chr17:72691256G>T	BC028199	CCDS11704.1, CCDS74148.1, CCDS74149.1, CCDS74150.1, CCDS74151.1, CCDS74152.1	17q25.2	2013-01-11	2006-03-29		ENSG00000186074	ENSG00000186074		"""Immunoglobulin superfamily / V-set domain containing"""	29883	protein-coding gene	gene with protein product		609807	"""CD300 antigen like family member F"""			12975309	Standard	NM_139018		Approved	IREM1, NKIR, IGSF13, CD300f, CLM1	uc002jlg.3	Q8TDQ1	OTTHUMG00000067609	ENST00000326165.6:c.852C>A	17.37:g.72691256G>T	ENSP00000327075:p.Tyr284*					RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000343125.4_3'UTR|CD300LF_ENST00000361254.4_3'UTR|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000469092.1_3'UTR|CD300LF_ENST00000301573.9_3'UTR|CD300LF_ENST00000464910.1_Nonsense_Mutation_p.Y287*|CD300LF_ENST00000583937.1_Nonsense_Mutation_p.Y299*	p.Y284*	NM_139018.3	NP_620587.2	Q8TDQ1	CLM1_HUMAN			7	963	-			284					B2RCL2|C9JDN3|Q3Y6P0|Q6UX24|Q7Z6A6|Q7Z7I4|Q7Z7I5|Q8N6D0|Q8NAF5	Nonsense_Mutation	SNP	ENST00000326165.6	37	c.852C>A	CCDS11704.1	.	.	.	.	.	.	.	.	.	.	G	14.47	2.545163	0.45280	.	.	ENSG00000186074	ENST00000326165	.	.	.	4.9	3.93	0.45458	.	0.000000	0.36200	N	0.002740	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4484	0.38712	0.0968:0.0:0.9032:0.0	.	.	.	.	X	284	.	ENSP00000327075:Y284X	Y	-	3	2	CD300LF	70202851	0.970000	0.33590	0.996000	0.52242	0.051000	0.14879	0.982000	0.29539	1.429000	0.47314	0.655000	0.94253	TAC		0.637	CD300LF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000145085.1	NM_139018		8	49	1	0	0.00307968	1	0.00307968	8	49				
LRRN4	164312	broad.mit.edu	37	20	6032876	6032876	+	Silent	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr20:6032876G>A	ENST00000378858.4	-	2	794	c.570C>T	c.(568-570)atC>atT	p.I190I		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	190					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCGCCTCGGCGATGCCCCCCT	0.731																																						ENST00000378858.4																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						c.(568-570)atC>atT		leucine rich repeat neuronal 4							6.0	5.0	5.0					20																	6032876		2010	3974	5984	SO:0001819	synonymous_variant	164312					integral to membrane		g.chr20:6032876G>A	AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.570C>T	20.37:g.6032876G>A							p.I190I	NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN			2	794	-			190					A8K258|Q5JWV6|Q9H419	Silent	SNP	ENST00000378858.4	37	c.570C>T	CCDS13097.1																																																																																				0.731	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077907.2	NM_152611		6	10	0	0	0	1	0	6	10				
ANK3	288	broad.mit.edu	37	10	61830997	61830997	+	Silent	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr10:61830997C>T	ENST00000280772.2	-	37	9833	c.9642G>A	c.(9640-9642)aaG>aaA	p.K3214K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3214					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGGAGGTTGACTTGGCCTGTT	0.473																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(9640-9642)aaG>aaA		ankyrin 3, node of Ranvier (ankyrin G)							144.0	136.0	139.0					10																	61830997		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61830997C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9642G>A	10.37:g.61830997C>T						ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	p.K3214K	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9833	-			3214					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.9642G>A	CCDS7258.1																																																																																				0.473	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		27	156	0	0	0	1	0	27	156				
PIK3CG	5294	broad.mit.edu	37	7	106509636	106509636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr7:106509636C>T	ENST00000359195.3	+	2	1940	c.1630C>T	c.(1630-1632)Cga>Tga	p.R544*	PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.R544*|PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.R544*	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	544	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cytokine production (GO:0001816)|dendritic cell chemotaxis (GO:0002407)|endocytosis (GO:0006897)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte apoptotic process (GO:0097284)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell degranulation (GO:0043303)|natural killer cell chemotaxis (GO:0035747)|negative regulation of cardiac muscle contraction (GO:0055118)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of triglyceride catabolic process (GO:0010897)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion mediated by integrin (GO:0033628)|respiratory burst involved in defense response (GO:0002679)|secretory granule localization (GO:0032252)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell proliferation (GO:0042098)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mast cell granule (GO:0042629)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|ephrin receptor binding (GO:0046875)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GGACCGGGTTCGAGCAGAAAT	0.542																																						ENST00000359195.3																			0				breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						c.(1630-1632)Cga>Tga		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma							85.0	82.0	83.0					7																	106509636		2203	4300	6503	SO:0001587	stop_gained	5294				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr7:106509636C>T		CCDS5739.1	7q22	2012-07-13	2012-07-13		ENSG00000105851	ENSG00000105851	2.7.1.153		8978	protein-coding gene	gene with protein product		601232	"""phosphoinositide-3-kinase, catalytic, gamma polypeptide"""				Standard	XM_005250443		Approved		uc003vdw.3	P48736	OTTHUMG00000157641	ENST00000359195.3:c.1630C>T	7.37:g.106509636C>T	ENSP00000352121:p.Arg544*					PIK3CG_ENST00000496166.1_Nonsense_Mutation_p.R544*|PIK3CG_ENST00000440650.2_Nonsense_Mutation_p.R544*	p.R544*	NM_002649.2	NP_002640.2	P48736	PK3CG_HUMAN			2	1940	+			544					A4D0Q6|Q8IV23|Q9BZC8	Nonsense_Mutation	SNP	ENST00000359195.3	37	c.1630C>T	CCDS5739.1	.	.	.	.	.	.	.	.	.	.	C	38	6.904157	0.97924	.	.	ENSG00000105851	ENST00000440650;ENST00000496166;ENST00000359195	.	.	.	5.81	2.86	0.33363	.	0.127310	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	-12.7755	15.3584	0.74448	0.5961:0.4039:0.0:0.0	.	.	.	.	X	544	.	ENSP00000352121:R544X	R	+	1	2	PIK3CG	106296872	0.725000	0.28048	0.943000	0.38184	0.989000	0.77384	1.384000	0.34396	0.766000	0.33244	0.655000	0.94253	CGA		0.542	PIK3CG-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349294.1			29	75	0	0	0	1	0	29	75				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		27	86	0	0	0	1	0	27	86				
ATP6V1C1	528	broad.mit.edu	37	8	104061168	104061168	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr8:104061168C>A	ENST00000395862.3	+	4	430	c.271C>A	c.(271-273)Ctg>Atg	p.L91M	ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.L16M|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.L91M|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.L16M	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	91					ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)	hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			TCAAGAGAATCTGTTGGCTAA	0.333																																						ENST00000395862.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13						c.(271-273)Ctg>Atg		ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1							112.0	107.0	109.0					8																	104061168		2203	4300	6503	SO:0001583	missense	528				ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr8:104061168C>A	X69151	CCDS6296.1	8p22.3	2011-05-24	2006-01-13	2002-05-10	ENSG00000155097	ENSG00000155097	3.6.3.14	"""ATPases / V-type"""	856	protein-coding gene	gene with protein product		603097	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) 42kD"", ""ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C, isoform 1"""	ATP6D, ATP6C		8250920, 14580332	Standard	NM_001695		Approved	VATC, Vma5	uc003ykz.4	P21283	OTTHUMG00000164761	ENST00000395862.3:c.271C>A	8.37:g.104061168C>A	ENSP00000379203:p.Leu91Met					ATP6V1C1_ENST00000521514.1_Missense_Mutation_p.L16M|ATP6V1C1_ENST00000518857.1_Missense_Mutation_p.L16M|ATP6V1C1_ENST00000518738.1_Missense_Mutation_p.L91M	p.L91M	NM_001695.4	NP_001686.1	P21283	VATC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)		4	430	+	Lung NSC(17;0.000427)|all_lung(17;0.000533)		91						Missense_Mutation	SNP	ENST00000395862.3	37	c.271C>A	CCDS6296.1	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923051	0.73213	.	.	ENSG00000155097	ENST00000518857;ENST00000395862;ENST00000521514;ENST00000518738	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	6.02	2.26	0.28386	.	0.000000	0.85682	D	0.000000	T	0.59142	0.2172	M	0.68593	2.085	0.52099	D	0.999948	D	0.61697	0.99	P	0.60286	0.872	T	0.57808	-0.7747	10	0.59425	D	0.04	.	10.2641	0.43445	0.0:0.7339:0.0:0.2661	.	91	P21283	VATC1_HUMAN	M	16;91;16;91	ENSP00000428204:L16M;ENSP00000379203:L91M;ENSP00000430129:L16M;ENSP00000430282:L91M	ENSP00000379203:L91M	L	+	1	2	ATP6V1C1	104130344	1.000000	0.71417	0.970000	0.41538	0.964000	0.63967	2.011000	0.40922	0.143000	0.18926	-0.145000	0.13849	CTG		0.333	ATP6V1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380101.1	NM_001695		38	60	1	0	1.07637e-12	1	1.13864e-12	38	60				
DOT1L	84444	broad.mit.edu	37	19	2220106	2220106	+	Splice_Site	SNP	G	G	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:2220106G>C	ENST00000398665.3	+	23	2727		c.e23-1			NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase						histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TCTCTCTGCAGAGGAGCACCC	0.622																																						ENST00000398665.3																			0				NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42						c.e23-1		DOT1-like histone H3K79 methyltransferase							41.0	47.0	45.0					19																	2220106		1989	4150	6139	SO:0001630	splice_region_variant	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2220106G>C	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2692-1G>C	19.37:g.2220106G>C								NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	23	2727	+		Hepatocellular(1079;0.137)						O60379|Q96JL1	Splice_Site	SNP	ENST00000398665.3	37		CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.610418	0.28712	.	.	ENSG00000104885	ENST00000398665;ENST00000221482;ENST00000440640	.	.	.	4.62	4.62	0.57501	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4679	0.84090	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOT1L	2171106	1.000000	0.71417	0.997000	0.53966	0.175000	0.22909	6.963000	0.76055	2.122000	0.65172	0.462000	0.41574	.		0.622	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1	NM_032482	Intron	8	34	0	0	0	1	0	8	34				
BEND7	222389	broad.mit.edu	37	10	13538828	13538828	+	Nonsense_Mutation	SNP	G	G	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr10:13538828G>C	ENST00000396900.2	-	4	508	c.509C>G	c.(508-510)tCa>tGa	p.S170*	BEND7_ENST00000341083.3_Nonsense_Mutation_p.S118*|BEND7_ENST00000378605.3_Nonsense_Mutation_p.S131*|BEND7_ENST00000396898.2_Nonsense_Mutation_p.S183*			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	170						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CTGCAACGTTGACTGGCAGTT	0.423																																						ENST00000341083.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						c.(352-354)tCa>tGa		BEN domain containing 7							134.0	129.0	131.0					10																	13538828		2203	4300	6503	SO:0001587	stop_gained	222389						protein binding	g.chr10:13538828G>C	BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.509C>G	10.37:g.13538828G>C	ENSP00000380108:p.Ser170*					BEND7_ENST00000378605.3_Nonsense_Mutation_p.S131*|BEND7_ENST00000396898.2_Nonsense_Mutation_p.S183*|BEND7_ENST00000396900.2_Nonsense_Mutation_p.S170*	p.S118*	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN			4	649	-			170					Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Nonsense_Mutation	SNP	ENST00000396900.2	37	c.353C>G		.	.	.	.	.	.	.	.	.	.	G	28.9	4.959368	0.92726	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	.	.	.	4.79	4.79	0.61399	.	0.382726	0.30168	N	0.010246	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.053	18.2498	0.89998	0.0:0.0:1.0:0.0	.	.	.	.	X	170;118;183;131	.	ENSP00000345773:S118X	S	-	2	0	BEND7	13578834	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.504000	0.73704	2.363000	0.80096	0.555000	0.69702	TCA		0.423	BEND7-202	KNOWN	basic	protein_coding	protein_coding		NM_152751		26	83	0	0	0	1	0	26	83				
LAG3	3902	broad.mit.edu	37	12	6883996	6883996	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr12:6883996C>G	ENST00000203629.2	+	4	1080	c.747C>G	c.(745-747)ttC>ttG	p.F249L	LAG3_ENST00000441671.2_Missense_Mutation_p.F249L	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	249	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell activation (GO:0050868)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|MHC class II protein binding (GO:0042289)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GAGATGGCTTCAACGTCTCCA	0.567																																						ENST00000203629.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						c.(745-747)ttC>ttG		lymphocyte-activation gene 3							136.0	120.0	126.0					12																	6883996		2203	4300	6503	SO:0001583	missense	3902					integral to membrane	antigen binding|MHC class II protein binding	g.chr12:6883996C>G		CCDS8561.1	12p13.3	2013-01-11			ENSG00000089692	ENSG00000089692		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6476	protein-coding gene	gene with protein product		153337					Standard	NM_002286		Approved	CD223	uc001qqt.4	P18627	OTTHUMG00000169197	ENST00000203629.2:c.747C>G	12.37:g.6883996C>G	ENSP00000203629:p.Phe249Leu					LAG3_ENST00000441671.2_Missense_Mutation_p.F249L	p.F249L	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN			4	1080	+			249			Ig-like C2-type 1.		A8K7T9|Q7Z643	Missense_Mutation	SNP	ENST00000203629.2	37	c.747C>G	CCDS8561.1	.	.	.	.	.	.	.	.	.	.	C	16.28	3.078181	0.55753	.	.	ENSG00000089692	ENST00000441671;ENST00000203629	T;T	0.11712	2.75;2.75	5.06	4.17	0.49024	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.464939	0.21247	N	0.077715	T	0.23492	0.0568	M	0.64997	1.995	0.35013	D	0.757103	B;D	0.71674	0.409;0.998	B;D	0.69654	0.136;0.965	T	0.25467	-1.0131	10	0.15499	T	0.54	-26.5035	9.4331	0.38622	0.0:0.9008:0.0:0.0992	.	249;249	P18627;Q7Z643	LAG3_HUMAN;.	L	249	ENSP00000413825:F249L;ENSP00000203629:F249L	ENSP00000203629:F249L	F	+	3	2	LAG3	6754257	0.996000	0.38824	0.899000	0.35326	0.461000	0.32589	1.440000	0.35024	1.133000	0.42147	0.313000	0.20887	TTC		0.567	LAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402846.1			21	79	0	0	0	1	0	21	79				
SAGE1	55511	broad.mit.edu	37	X	134993810	134993810	+	Nonsense_Mutation	SNP	C	C	G			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chrX:134993810C>G	ENST00000370709.3	+	17	2219	c.2219C>G	c.(2218-2220)tCa>tGa	p.S740*	SAGE1_ENST00000535938.1_Nonsense_Mutation_p.S740*|SAGE1_ENST00000537770.1_Nonsense_Mutation_p.S364*|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.S740*			Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	740						nucleus (GO:0005634)				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGCTTCCTGTCAAATTCTGAT	0.423																																						ENST00000535938.1																			0				breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55						c.(2218-2220)tCa>tGa		sarcoma antigen 1							137.0	133.0	134.0					X																	134993810		2203	4300	6503	SO:0001587	stop_gained	55511							g.chrX:134993810C>G	AJ278111	CCDS14652.1	Xq26	2009-03-25			ENSG00000181433	ENSG00000181433			30369	protein-coding gene	gene with protein product	"""cancer/testis antigen 14"""	300359				10919659	Standard	NM_018666		Approved	SAGE, CT14	uc004ezh.3	Q9NXZ1	OTTHUMG00000022496	ENST00000370709.3:c.2219C>G	X.37:g.134993810C>G	ENSP00000359743:p.Ser740*					SAGE1_ENST00000324447.3_Nonsense_Mutation_p.S740*|SAGE1_ENST00000370709.3_Nonsense_Mutation_p.S740*|SAGE1_ENST00000537770.1_Nonsense_Mutation_p.S364*	p.S740*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN			18	2386	+	Acute lymphoblastic leukemia(192;0.000127)		740					Q5JNW0	Nonsense_Mutation	SNP	ENST00000370709.3	37	c.2219C>G	CCDS14652.1	.	.	.	.	.	.	.	.	.	.	C	19.41	3.822714	0.71028	.	.	ENSG00000181433	ENST00000324447;ENST00000535938;ENST00000537770;ENST00000370709	.	.	.	2.67	1.77	0.24775	.	1.688320	0.03268	U	0.184278	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	4.7658	0.13132	0.0:0.6224:0.0:0.3776	.	.	.	.	X	740;740;364;740	.	ENSP00000323191:S740X	S	+	2	0	SAGE1	134821476	0.002000	0.14202	0.002000	0.10522	0.127000	0.20565	0.539000	0.23175	0.131000	0.18576	0.179000	0.17066	TCA		0.423	SAGE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058448.1	NM_018666		66	240	0	0	0	1	0	66	240				
TNFRSF6B	8771	broad.mit.edu	37	20	62328212	62328212	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr20:62328212C>T	ENST00000369996.1	+	1	192	c.92C>T	c.(91-93)gCa>gTa	p.A31V	ARFRP1_ENST00000485858.1_5'Flank|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.G1333G|RTEL1_ENST00000318100.4_Silent_p.G1333G	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	31					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	extracellular space (GO:0005615)	receptor activity (GO:0004872)			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CGCGGAGTGGCAGAAACACCC	0.716																																						ENST00000369996.1																			0				central_nervous_system(1)|lung(2)|skin(1)	4						c.(91-93)gCa>gTa		tumor necrosis factor receptor superfamily, member 6b, decoy							19.0	20.0	20.0					20																	62328212		2181	4278	6459	SO:0001583	missense	8771				anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity	g.chr20:62328212C>T	AF104419	CCDS13532.1	20q13.33	2012-06-27						"""Tumor necrosis factor receptor superfamily"""	11921	protein-coding gene	gene with protein product		603361				9872321, 10318773	Standard	NM_003823		Approved	DcR3, DCR3, TR6, M68	uc002yfz.3	O95407	OTTHUMG00000143724	ENST00000369996.1:c.92C>T	20.37:g.62328212C>T	ENSP00000359013:p.Ala31Val					RTEL1_ENST00000318100.4_Silent_p.G1333G|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.G1333G	p.A31V	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)		1	192	+	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		31						Missense_Mutation	SNP	ENST00000369996.1	37	c.92C>T	CCDS13532.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.164314	0.38217	.	.	ENSG00000243509	ENST00000370006;ENST00000369996;ENST00000342852	T	0.73897	-0.79	3.23	1.27	0.21489	.	.	.	.	.	T	0.61578	0.2358	L	0.40543	1.245	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.46005	-0.9222	9	0.27785	T	0.31	-30.5705	7.4734	0.27361	0.0:0.783:0.0:0.217	.	31	O95407	TNF6B_HUMAN	V	31	ENSP00000359013:A31V	ENSP00000342328:A31V	A	+	2	0	TNFRSF6B	61798656	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.127000	0.15790	0.129000	0.18514	0.462000	0.41574	GCA		0.716	TNFRSF6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080182.1			4	20	0	0	0	1	0	4	20				
TENC1	23371	broad.mit.edu	37	12	53449623	53449623	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr12:53449623C>T	ENST00000314250.6	+	10	1045	c.755C>T	c.(754-756)tCt>tTt	p.S252F	RP11-983P16.4_ENST00000551890.1_RNA|TENC1_ENST00000451358.1_Missense_Mutation_p.S252F|TENC1_ENST00000549700.1_Missense_Mutation_p.S252F|RP11-983P16.4_ENST00000550601.1_RNA|TENC1_ENST00000379902.3_Missense_Mutation_p.S128F|RP11-983P16.4_ENST00000546793.1_RNA|TENC1_ENST00000552570.1_Missense_Mutation_p.S252F|TENC1_ENST00000314276.3_Missense_Mutation_p.S262F|TENC1_ENST00000546602.1_Missense_Mutation_p.S252F	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	252	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				cellular homeostasis (GO:0019725)|collagen metabolic process (GO:0032963)|intracellular signal transduction (GO:0035556)|kidney development (GO:0001822)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of cell proliferation (GO:0008285)|response to muscle activity (GO:0014850)	focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						AGCAAGATCTCTGCAGGGTGA	0.597																																						ENST00000314250.6																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						c.(754-756)tCt>tTt		tensin like C1 domain containing phosphatase (tensin 2)							169.0	160.0	163.0					12																	53449623		2203	4300	6503	SO:0001583	missense	23371				intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding	g.chr12:53449623C>T	AF518729	CCDS8842.1, CCDS8843.1, CCDS8844.1	12q13.13	2013-02-14	2004-03-05			ENSG00000111077		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	19737	protein-coding gene	gene with protein product	"""tensin 2"""	607717	"""tensin like C1 domain-containing phosphatase"""				Standard	NM_015319		Approved	KIAA1075, C1-TEN, TNS2	uc001sbp.3	Q63HR2	OTTHUMG00000169730	ENST00000314250.6:c.755C>T	12.37:g.53449623C>T	ENSP00000319684:p.Ser252Phe					TENC1_ENST00000314276.3_Missense_Mutation_p.S262F|TENC1_ENST00000552570.1_Missense_Mutation_p.S252F|TENC1_ENST00000379902.3_Missense_Mutation_p.S128F|TENC1_ENST00000546602.1_Missense_Mutation_p.S252F|TENC1_ENST00000549700.1_Missense_Mutation_p.S252F|TENC1_ENST00000451358.1_Missense_Mutation_p.S252F	p.S252F	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN			10	1045	+			252			Phosphatase tensin-type.		A2VDF2|A2VDF3|A2VDI8|A5PKY4|Q2NL80|Q76MW6|Q7Z5T9|Q8NFF9|Q8NFG0|Q96P25|Q9NT29|Q9UPS7	Missense_Mutation	SNP	ENST00000314250.6	37	c.755C>T	CCDS8843.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475544	0.84640	.	.	ENSG00000111077	ENST00000379902;ENST00000314276;ENST00000314250;ENST00000451358;ENST00000443113;ENST00000546602;ENST00000552570;ENST00000549700	D;D;D;D;D;D;D	0.98474	-4.95;-4.95;-4.95;-4.95;-4.95;-4.95;-4.95	5.2	5.2	0.72013	Phosphatase tensin type (1);	0.000000	0.85682	D	0.000000	D	0.97782	0.9272	N	0.25245	0.725	0.58432	D	0.999999	D;P;D;D	0.76494	0.999;0.863;0.999;0.996	D;P;D;D	0.79108	0.96;0.748;0.992;0.982	D	0.99368	1.0919	10	0.87932	D	0	-4.5109	16.5951	0.84794	0.0:1.0:0.0:0.0	.	252;252;262;259	Q63HR2;F8W661;Q63HR2-4;Q6ZMJ1	TENC1_HUMAN;.;.;.	F	128;262;252;252;252;252;252;252	ENSP00000369232:S128F;ENSP00000319756:S262F;ENSP00000319684:S252F;ENSP00000393362:S252F;ENSP00000449363:S252F;ENSP00000447021:S252F;ENSP00000449361:S252F	ENSP00000319684:S252F	S	+	2	0	TENC1	51735890	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.409000	0.66374	2.606000	0.88127	0.561000	0.74099	TCT		0.597	TENC1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405779.1	NM_170754		48	135	0	0	0	1	0	48	135				
PLCL2	23228	broad.mit.edu	37	3	17056393	17056393	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:17056393C>T	ENST00000418129.2	+	3	3095	c.2630C>T	c.(2629-2631)aCt>aTt	p.T877I	PLCL2_ENST00000396755.2_Missense_Mutation_p.T877I|PLCL2_ENST00000432376.1_Missense_Mutation_p.T877I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	1003					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						ATCGTAACAACTTATGACATG	0.478																																						ENST00000418129.2																			0				breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						c.(2629-2631)aCt>aTt		phospholipase C-like 2							181.0	174.0	176.0					3																	17056393		2203	4300	6503	SO:0001583	missense	23228				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:17056393C>T	AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.2630C>T	3.37:g.17056393C>T	ENSP00000409637:p.Thr877Ile					PLCL2_ENST00000432376.1_Missense_Mutation_p.T877I|PLCL2_ENST00000396755.2_Missense_Mutation_p.T877I	p.T877I	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN			3	3095	+			1003					A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	ENST00000418129.2	37	c.2630C>T	CCDS33713.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.30|15.30	2.791286|2.791286	0.50102|0.50102	.|.	.|.	ENSG00000154822|ENSG00000154822	ENST00000419842|ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	.|T;T;T	.|0.17054	.|2.3;2.31;2.3	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	.|0.170811	.|0.53938	.|D	.|0.000054	T|T	0.22205|0.22205	0.0535|0.0535	.|.	.|.	.|.	0.44515|0.44515	D|D	0.997469|0.997469	.|B	.|0.24092	.|0.097	.|B	.|0.29598	.|0.104	T|T	0.03651|0.03651	-1.1016|-1.1016	4|9	.|0.72032	.|D	.|0.01	.|.	19.2279|19.2279	0.93824|0.93824	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1003	.|Q9UPR0	.|PLCL2_HUMAN	F|I	621|877;1004;877;877	.|ENSP00000409637:T877I;ENSP00000379979:T877I;ENSP00000412836:T877I	.|ENSP00000285094:T1004I	L|T	+|+	1|2	0|0	PLCL2|PLCL2	17031397|17031397	1.000000|1.000000	0.71417|0.71417	0.552000|0.552000	0.28243|0.28243	0.572000|0.572000	0.35998|0.35998	6.002000|6.002000	0.70693|0.70693	2.608000|2.608000	0.88229|0.88229	0.655000|0.655000	0.94253|0.94253	CTT|ACT		0.478	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340250.3			30	111	0	0	0	1	0	30	111				
ZNF845	91664	broad.mit.edu	37	19	53854494	53854494	+	Missense_Mutation	SNP	C	C	G	rs138639565		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:53854494C>G	ENST00000595091.1	+	5	785	c.566C>G	c.(565-567)tCt>tGt	p.S189C	ZNF845_ENST00000458035.1_Missense_Mutation_p.S189C			Q96IR2	ZN845_HUMAN	zinc finger protein 845	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ACCCACATTTCTAAGAACTAT	0.368																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(565-567)tCt>tGt		zinc finger protein 845							53.0	39.0	43.0					19																	53854494		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854494C>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.566C>G	19.37:g.53854494C>G	ENSP00000470005:p.Ser189Cys					ZNF845_ENST00000595091.1_Missense_Mutation_p.S189C	p.S189C	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	683	+			189						Missense_Mutation	SNP	ENST00000595091.1	37	c.566C>G	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	0.001	-2.886373	0.00061	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.08634	3.07	1.2	-2.4	0.06583	.	.	.	.	.	T	0.01558	0.0050	N	0.00630	-1.315	0.09310	N	1	B	0.21309	0.054	B	0.20184	0.028	T	0.36720	-0.9736	9	0.02654	T	1	.	2.5009	0.04633	0.1634:0.2169:0.4742:0.1455	.	189	Q96IR2	ZN845_HUMAN	C	189	ENSP00000388311:S189C	ENSP00000412086:S189C	S	+	2	0	ZNF845	58546306	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-4.685000	0.00198	-1.079000	0.03113	0.411000	0.27672	TCT		0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		44	147	0	0	0	1	0	44	147				
ZNF254	9534	broad.mit.edu	37	19	24310352	24310352	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:24310352C>G	ENST00000357002.4	+	4	1665	c.1550C>G	c.(1549-1551)cCc>cGc	p.P517R	ZNF254_ENST00000342944.6_Missense_Mutation_p.P432R	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	517					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GGAGAGAAACCCTACAAATGT	0.368																																						ENST00000357002.4																			0											c.(1549-1551)cCc>cGc		zinc finger protein 254							53.0	56.0	55.0					19																	24310352		2186	4284	6470	SO:0001583	missense	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310352C>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1550C>G	19.37:g.24310352C>G	ENSP00000349494:p.Pro517Arg					ZNF254_ENST00000342944.6_Missense_Mutation_p.P432R	p.P517R	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1665	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	517					A4QPC0|Q86XL7	Missense_Mutation	SNP	ENST00000357002.4	37	c.1550C>G	CCDS32983.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400561	0.25291	.	.	ENSG00000213096	ENST00000342944;ENST00000357002	T;T	0.17213	2.29;2.29	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29976	0.0750	L	0.56199	1.76	0.30604	N	0.76022	D	0.76494	0.999	D	0.64877	0.93	T	0.18116	-1.0347	9	0.72032	D	0.01	.	7.6282	0.28224	0.0:1.0:0.0:0.0	.	517	O75437	ZN254_HUMAN	R	432;517	ENSP00000445527:P432R;ENSP00000349494:P517R	ENSP00000445527:P432R	P	+	2	0	ZNF254	24102192	0.955000	0.32602	0.832000	0.32986	0.701000	0.40568	3.723000	0.54955	0.530000	0.28619	0.305000	0.20034	CCC		0.368	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		5	160	0	0	0	1	0	5	160				
U2AF2	11338	broad.mit.edu	37	19	56180837	56180837	+	Silent	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:56180837C>T	ENST00000308924.4	+	11	1112	c.1072C>T	c.(1072-1074)Ctg>Ttg	p.L358L	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000450554.2_Silent_p.L354L|CTD-2537I9.13_ENST00000592252.1_RNA|U2AF2_ENST00000590551.1_Silent_p.L190L|CTD-2537I9.12_ENST00000589456.1_RNA			P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	358					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	enzyme binding (GO:0019899)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCCTGTGACCCTGCAAGTGCC	0.657																																						ENST00000450554.2																			0				biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21						c.(1060-1062)Ctg>Ttg		U2 small nuclear RNA auxiliary factor 2							53.0	56.0	55.0					19																	56180837		2203	4299	6502	SO:0001819	synonymous_variant	11338				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding	g.chr19:56180837C>T	BC008740	CCDS12933.1, CCDS46197.1	19q13.43	2014-09-17	2006-04-11			ENSG00000063244		"""RNA binding motif (RRM) containing"""	23156	protein-coding gene	gene with protein product	"""U2 small nuclear ribonucleoprotein auxiliary factor (65kD)"", ""splicing factor U2AF 65 kD subunit"", ""U2 snRNP auxiliary factor large subunit"""	191318	"""U2 (RNU2) small nuclear RNA auxiliary factor 2"""			1538748	Standard	XM_006722994		Approved	U2AF65	uc002qlu.3	P26368		ENST00000308924.4:c.1072C>T	19.37:g.56180837C>T						U2AF2_ENST00000308924.4_Silent_p.L358L|U2AF2_ENST00000590551.1_Silent_p.L190L|CTD-2537I9.12_ENST00000589456.1_RNA|CTD-2537I9.12_ENST00000585940.1_RNA	p.L354L	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)	11	2019	+		Colorectal(82;0.00244)|Ovarian(87;0.133)	358					Q96HC5	Silent	SNP	ENST00000308924.4	37	c.1060C>T	CCDS12933.1																																																																																				0.657	U2AF2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453599.1	NM_007279		10	41	0	0	0	1	0	10	41				
MST1L	11223	broad.mit.edu	37	1	17083655	17083655	+	RNA	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:17083655G>A	ENST00000455405.2	-	0	933							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										tctcaaccttgagtacaagtc	0.393																																						ENST00000455405.2																			0																																																			11223							g.chr1:17083655G>A	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17083655G>A														0	933	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.393	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		5	62	0	0	0	1	0	5	62				
PDCD6IP	10015	broad.mit.edu	37	3	33870417	33870417	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:33870417G>A	ENST00000307296.3	+	7	1167	c.790G>A	c.(790-792)Gca>Aca	p.A264T	PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A269T			Q8WUM4	PDC6I_HUMAN	programmed cell death 6 interacting protein	264	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell division (GO:0051301)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium-dependent protein binding (GO:0048306)|protein homodimerization activity (GO:0042803)			central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						GTCTATCCTGGCAAAACAGCA	0.408																																						ENST00000307296.3																			0				central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|skin(1)|stomach(1)	23						c.(790-792)Gca>Aca		programmed cell death 6 interacting protein							110.0	108.0	109.0					3																	33870417		2203	4300	6503	SO:0001583	missense	10015				apoptosis|cell cycle|cell division|interspecies interaction between organisms|protein transport	cytosol|melanosome|microtubule organizing center	calcium-dependent protein binding	g.chr3:33870417G>A	BC020066	CCDS2660.1, CCDS54561.1	3p22.3	2012-08-30	2001-11-29		ENSG00000170248	ENSG00000170248			8766	protein-coding gene	gene with protein product	"""ALG-2 interacting protein X"""	608074	"""programmed cell death 6-interacting protein"""			9880530	Standard	NM_001162429		Approved	Alix, AIP1, Hp95	uc003cfy.4	Q8WUM4	OTTHUMG00000130751	ENST00000307296.3:c.790G>A	3.37:g.33870417G>A	ENSP00000307387:p.Ala264Thr					PDCD6IP_ENST00000457054.2_Missense_Mutation_p.A269T	p.A264T			Q8WUM4	PDC6I_HUMAN			7	1167	+			264			BRO1.|Interaction with CHMP4A, CHMP4B and CHMP4C.|Interaction with EIAV p9.		C5MQH7|E9PFU1|Q6NUS1|Q9BX86|Q9NUN0|Q9P2H2|Q9UKL5	Missense_Mutation	SNP	ENST00000307296.3	37	c.790G>A	CCDS2660.1	.	.	.	.	.	.	.	.	.	.	G	16.70	3.195980	0.58126	.	.	ENSG00000170248	ENST00000307296;ENST00000457054	T;T	0.18960	2.18;2.18	5.2	5.2	0.72013	BRO1 domain (3);	0.146248	0.64402	D	0.000009	T	0.45034	0.1322	M	0.85197	2.74	0.80722	D	1	D;D;P	0.58620	0.983;0.971;0.936	P;P;P	0.56127	0.771;0.792;0.644	T	0.41413	-0.9510	10	0.20046	T	0.44	-11.7366	19.0901	0.93224	0.0:0.0:1.0:0.0	.	45;269;264	B7Z5C1;E9PFU1;Q8WUM4	.;.;PDC6I_HUMAN	T	264;269	ENSP00000307387:A264T;ENSP00000411825:A269T	ENSP00000307387:A264T	A	+	1	0	PDCD6IP	33845421	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.898000	0.87363	2.586000	0.87340	0.655000	0.94253	GCA		0.408	PDCD6IP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253251.2			4	144	0	0	0	1	0	4	144				
TALDO1	6888	broad.mit.edu	37	11	763351	763351	+	Missense_Mutation	SNP	G	G	A	rs140952110		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr11:763351G>A	ENST00000319006.3	+	5	622	c.469G>A	c.(469-471)Gag>Aag	p.E157K	TALDO1_ENST00000528097.1_Missense_Mutation_p.E157K			P37837	TALDO_HUMAN	transaldolase 1	157					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CAGGGAGCTCGAGGAGCAGCA	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		6938	0.0		0.0	False		,,,				2504	0.001					ENST00000319006.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14						c.(469-471)Gag>Aag		transaldolase 1		G	LYS/GLU	0,4406		0,0,2203	76.0	64.0	68.0		469	4.1	0.9	11	dbSNP_134	68	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TALDO1	NM_006755.1	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	157/338	763351	1,13005	2203	4300	6503	SO:0001583	missense	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:763351G>A		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.469G>A	11.37:g.763351G>A	ENSP00000321259:p.Glu157Lys					TALDO1_ENST00000528097.1_Missense_Mutation_p.E157K	p.E157K			P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	5	622	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	157					B2R8M2|O00751|Q8WV32|Q8WZ45	Missense_Mutation	SNP	ENST00000319006.3	37	c.469G>A	CCDS7712.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.820780	0.90873	0.0	1.16E-4	ENSG00000177156	ENST00000319006;ENST00000528097	D;D	0.85556	-2.0;-2.0	5.05	4.13	0.48395	Aldolase-type TIM barrel (1);	0.000000	0.85682	D	0.000000	D	0.89072	0.6611	L	0.43701	1.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.975	D	0.90147	0.4218	10	0.87932	D	0	-18.7137	14.8156	0.70031	0.0:0.1452:0.8548:0.0	.	157;157	F2Z393;P37837	.;TALDO_HUMAN	K	157	ENSP00000321259:E157K;ENSP00000437098:E157K	ENSP00000321259:E157K	E	+	1	0	TALDO1	753351	1.000000	0.71417	0.903000	0.35520	0.565000	0.35776	9.262000	0.95591	1.256000	0.44068	0.561000	0.74099	GAG		0.697	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		17	71	0	0	0	1	0	17	71				
CACTIN	58509	broad.mit.edu	37	19	3626701	3626701	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:3626701C>G	ENST00000429344.2	-	1	112	c.60G>C	c.(58-60)caG>caC	p.Q20H	CACTIN_ENST00000248420.5_Missense_Mutation_p.Q20H|CACTIN_ENST00000221899.3_5'UTR	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	20					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										CGCTCTGACTCTGCCGCCTTC	0.746																																						ENST00000429344.2																			0											c.(58-60)caG>caC		cactin, spliceosome C complex subunit							3.0	4.0	4.0					19																	3626701		1796	3866	5662	SO:0001583	missense	58509							g.chr19:3626701C>G	BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.60G>C	19.37:g.3626701C>G	ENSP00000415078:p.Gln20His					CACTIN_ENST00000221899.3_5'UTR|CACTIN_ENST00000248420.5_Missense_Mutation_p.Q20H	p.Q20H	NM_001080543.1	NP_001074012.1					1	112	-								A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	ENST00000429344.2	37	c.60G>C	CCDS45920.1	.	.	.	.	.	.	.	.	.	.	C	9.346	1.064342	0.20067	.	.	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000446452	.	.	.	4.21	4.21	0.49690	.	.	.	.	.	T	0.24236	0.0587	N	0.08118	0	0.09310	N	1	B	0.25955	0.138	B	0.19391	0.025	T	0.09818	-1.0657	8	0.39692	T	0.17	.	12.249	0.54587	0.0:1.0:0.0:0.0	.	20	Q8WUQ7	CS029_HUMAN	H	20	.	ENSP00000248420:Q20H	Q	-	3	2	C19orf29	3577701	0.948000	0.32251	0.147000	0.22382	0.012000	0.07955	2.697000	0.47060	2.352000	0.79861	0.555000	0.69702	CAG		0.746	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457370.2			3	8	0	0	0	1	0	3	8				
ZNF254	9534	broad.mit.edu	37	19	24310305	24310305	+	Silent	SNP	A	A	G	rs558737751	byFrequency	TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:24310305A>G	ENST00000357002.4	+	4	1618	c.1503A>G	c.(1501-1503)caA>caG	p.Q501Q	ZNF254_ENST00000342944.6_Silent_p.Q416Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	501					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CTTTTAGCCAATCCTCAACCC	0.403													A|||	2	0.000399361	0.0	0.0	5008	,	,		19973	0.0		0.0	False		,,,				2504	0.002					ENST00000357002.4																			0											c.(1501-1503)caA>caG		zinc finger protein 254							58.0	60.0	60.0					19																	24310305		2200	4296	6496	SO:0001819	synonymous_variant	9534				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:24310305A>G	AF054180	CCDS32983.1, CCDS62622.1, CCDS62623.1, CCDS74323.1, CCDS74324.1	19p13	2013-01-08				ENSG00000213096		"""Zinc fingers, C2H2-type"", ""-"""	13047	protein-coding gene	gene with protein product		604768	"""zinc finger protein 539"""	ZNF91L, ZNF539		9653160	Standard	NM_001278661		Approved	HD-ZNF1, BMZF-5	uc002nru.3	O75437		ENST00000357002.4:c.1503A>G	19.37:g.24310305A>G						ZNF254_ENST00000342944.6_Silent_p.Q416Q	p.Q501Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN			4	1618	+		all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)	501					A4QPC0|Q86XL7	Silent	SNP	ENST00000357002.4	37	c.1503A>G	CCDS32983.1																																																																																				0.403	ZNF254-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466453.1	NM_004876		5	139	0	0	0	1	0	5	139				
TTN	7273	broad.mit.edu	37	2	179455354	179455354	+	Silent	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:179455354G>A	ENST00000591111.1	-	254	56399	c.56175C>T	c.(56173-56175)tgC>tgT	p.C18725C	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.C11493C|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000589042.1_Silent_p.C20366C|TTN_ENST00000342992.6_Silent_p.C17798C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.C11426C|TTN_ENST00000460472.2_Silent_p.C11301C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18725	Fibronectin type-III 35. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATGGGCCGGCAAGCTTTTA	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(61096-61098)tgC>tgT		titin							110.0	108.0	109.0					2																	179455354		1876	4105	5981	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455354G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.56175C>T	2.37:g.179455354G>A						TTN_ENST00000359218.5_Silent_p.C11426C|TTN_ENST00000460472.2_Silent_p.C11301C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.C11493C|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.C18725C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.C17798C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA	p.C20366C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	61322	-			18725			Fibronectin type-III 47.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.61098C>T																																																																																					0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		4	150	0	0	0	1	0	4	150				
NLRC3	197358	broad.mit.edu	37	16	3614884	3614884	+	RNA	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr16:3614884C>T	ENST00000301749.7	-	0	559				NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of protein ubiquitination (GO:0031396)|response to lipopolysaccharide (GO:0032496)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCAGCGGGGCATCCGGTGTC	0.672																																						ENST00000301749.7																			0				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34								NLR family, CARD domain containing 3							17.0	21.0	19.0					16																	3614884		1925	4108	6033			197358				I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding	g.chr16:3614884C>T	BK001112	CCDS73817.1	16p13.3	2014-03-25			ENSG00000167984	ENSG00000167984		"""Nucleotide-binding domain and leucine rich repeat containing"""	29889	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 3"", ""NOD-like receptor C3"""	615648				15705585, 12766759	Standard	NM_178844		Approved	CLR16.2, FLJ00348, NOD3	uc010btn.3	Q7RTR2	OTTHUMG00000177561		16.37:g.3614884C>T						NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA		NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN			0	559	-								Q5EY36|Q8NF48|Q8NI01|Q8NI02|Q8TEL3	RNA	SNP	ENST00000301749.7	37			.	.	.	.	.	.	.	.	.	.	C	11.56	1.676272	0.29783	.	.	ENSG00000167984	ENST00000419350;ENST00000301749;ENST00000359128;ENST00000448023;ENST00000324659	T;T;T;T	0.79554	-0.58;-0.61;-0.54;-1.28	4.86	-3.9	0.04181	.	1.270350	0.05588	N	0.574155	T	0.59555	0.2202	.	.	.	0.09310	N	1	B	0.15141	0.012	B	0.15052	0.012	T	0.47433	-0.9118	9	0.10902	T	0.67	.	7.7621	0.28959	0.3019:0.512:0.186:0.0	.	99	C9JLH9	.	T	52;52;52;99;69	ENSP00000301749:A52T;ENSP00000352039:A52T;ENSP00000414415:A99T;ENSP00000323897:A69T	ENSP00000301749:A52T	A	-	1	0	NLRC3	3554885	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.051000	0.14141	-0.414000	0.07495	-0.265000	0.10407	GCC		0.672	NLRC3-201	KNOWN	basic|appris_principal	protein_coding	polymorphic_pseudogene		NM_178844		13	27	0	0	0	1	0	13	27				
RAB34	83871	broad.mit.edu	37	17	27042131	27042131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr17:27042131G>A	ENST00000395245.3	-	8	1149	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	RAB34_ENST00000450529.1_Nonsense_Mutation_p.Q167*|RAB34_ENST00000436730.3_Nonsense_Mutation_p.Q175*|RAB34_ENST00000301043.6_Nonsense_Mutation_p.Q175*|RAB34_ENST00000395243.3_Nonsense_Mutation_p.Q167*|RAB34_ENST00000447716.1_Nonsense_Mutation_p.Q232*|RAB34_ENST00000415040.2_Nonsense_Mutation_p.Q153*|RAB34_ENST00000395242.2_Nonsense_Mutation_p.Q176*|RAB34_ENST00000453384.3_Nonsense_Mutation_p.Q233*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	175					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					AGCGCATACTGAGCAGGGGTC	0.582																																					Pancreas(175;216 2049 29940 32498 41589)	ENST00000395245.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14						c.(523-525)Cag>Tag		RAB34, member RAS oncogene family							71.0	67.0	68.0					17																	27042131		2203	4300	6503	SO:0001587	stop_gained	83871				protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding	g.chr17:27042131G>A	AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.523C>T	17.37:g.27042131G>A	ENSP00000378666:p.Gln175*					RAB34_ENST00000447716.1_Nonsense_Mutation_p.Q232*|RAB34_ENST00000415040.2_Nonsense_Mutation_p.Q153*|RAB34_ENST00000301043.6_Nonsense_Mutation_p.Q175*|RAB34_ENST00000453384.3_Nonsense_Mutation_p.Q233*|RAB34_ENST00000450529.1_Nonsense_Mutation_p.Q167*|RAB34_ENST00000436730.3_Nonsense_Mutation_p.Q175*|RAB34_ENST00000395243.3_Nonsense_Mutation_p.Q167*|RAB34_ENST00000395242.2_Nonsense_Mutation_p.Q176*	p.Q175*	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN			8	1149	-	Lung NSC(42;0.00431)		175					B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Nonsense_Mutation	SNP	ENST00000395245.3	37	c.523C>T	CCDS11240.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984754	0.74474	.	.	ENSG00000109113	ENST00000453384;ENST00000447716;ENST00000301043;ENST00000395243;ENST00000415040;ENST00000450529;ENST00000395242;ENST00000395245;ENST00000436730;ENST00000430132;ENST00000412625;ENST00000353676	.	.	.	5.01	5.01	0.66863	.	0.116269	0.64402	D	0.000009	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-23.7265	12.9028	0.58135	0.0:0.0:0.8369:0.1631	.	.	.	.	X	233;232;175;167;153;190;176;175;198;176;175;175	.	ENSP00000301043:Q175X	Q	-	1	0	RAB34	24066258	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	7.423000	0.80229	2.607000	0.88179	0.462000	0.41574	CAG		0.582	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345906.1	NM_031934		21	80	0	0	0	1	0	21	80				
ARHGAP17	55114	broad.mit.edu	37	16	24988567	24988567	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr16:24988567C>A	ENST00000289968.6	-	3	236	c.167G>T	c.(166-168)gGc>gTc	p.G56V	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.G56V|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.G56V	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	56	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GCCATGCTGGCCCTGGAAACA	0.542																																						ENST00000289968.6																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30						c.(166-168)gGc>gTc		Rho GTPase activating protein 17							74.0	58.0	63.0					16																	24988567		2197	4300	6497	SO:0001583	missense	55114				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding	g.chr16:24988567C>A	AJ306731	CCDS32408.1, CCDS32409.1	16p12.2-p12.1	2011-06-29				ENSG00000140750		"""Rho GTPase activating proteins"""	18239	protein-coding gene	gene with protein product		608293				10967100, 11431473	Standard	XM_005255413		Approved	RICH1, FLJ10308, NADRIN, FLJ13219, WBP15	uc002dnb.3	Q68EM7		ENST00000289968.6:c.167G>T	16.37:g.24988567C>A	ENSP00000289968:p.Gly56Val					ARHGAP17_ENST00000303665.5_Missense_Mutation_p.G56V|ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.G56V	p.G56V	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN		GBM - Glioblastoma multiforme(48;0.0407)	3	236	-			56			BAR.		A8K6M6|Q6ZUS4|Q7Z2F2|Q8NDG2|Q96KS2|Q96KS3|Q96SS8|Q9BVF6|Q9H8U5|Q9NW54	Missense_Mutation	SNP	ENST00000289968.6	37	c.167G>T	CCDS32409.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889032	0.91814	.	.	ENSG00000140750	ENST00000289968;ENST00000303665;ENST00000441763;ENST00000455311	T;T;T	0.62941	-0.01;-0.01;-0.01	5.68	5.68	0.88126	BAR (3);	0.000000	0.45361	D	0.000371	T	0.81706	0.4879	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83565	0.0109	10	0.59425	D	0.04	.	17.2861	0.87142	0.0:1.0:0.0:0.0	.	56;56;56	Q68EM7-4;Q68EM7-2;Q68EM7	.;.;RHG17_HUMAN	V	56	ENSP00000289968:G56V;ENSP00000303130:G56V;ENSP00000406950:G56V	ENSP00000289968:G56V	G	-	2	0	ARHGAP17	24896068	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.713000	0.74686	2.660000	0.90430	0.650000	0.86243	GGC		0.542	ARHGAP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436548.3	NM_018054		16	46	1	0	5.3912e-06	1	5.52059e-06	16	46				
HRH3	11255	broad.mit.edu	37	20	60791962	60791962	+	Silent	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr20:60791962C>T	ENST00000340177.5	-	3	722	c.438G>A	c.(436-438)caG>caA	p.Q146Q	HRH3_ENST00000317393.6_Silent_p.Q146Q	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	146					brain development (GO:0007420)|drinking behavior (GO:0042756)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of blood pressure (GO:0045776)|negative regulation of gamma-aminobutyric acid secretion (GO:0014053)|negative regulation of glutamate secretion (GO:0014050)|negative regulation of serotonin secretion (GO:0014063)|neurotransmitter secretion (GO:0007269)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of norepinephrine secretion (GO:0014061)|response to organic cyclic compound (GO:0014070)	integral component of plasma membrane (GO:0005887)|myelin sheath (GO:0043209)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|histamine receptor activity (GO:0004969)			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Betahistine(DB06698)|Histamine Phosphate(DB00667)|Mirtazapine(DB00370)	GCGTGTCACCCTGCTGGGCCC	0.677																																						ENST00000340177.5																			0				breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						c.(436-438)caG>caA		histamine receptor H3	Histamine Phosphate(DB00667)						24.0	25.0	25.0					20																	60791962		2202	4296	6498	SO:0001819	synonymous_variant	11255				G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity	g.chr20:60791962C>T	AF140538	CCDS13493.1	20q13.33	2013-09-19			ENSG00000101180	ENSG00000101180		"""GPCR / Class A : Histamine receptors"""	5184	protein-coding gene	gene with protein product		604525				10347254	Standard	NM_007232		Approved	GPCR97	uc002ycf.2	Q9Y5N1	OTTHUMG00000032899	ENST00000340177.5:c.438G>A	20.37:g.60791962C>T						HRH3_ENST00000317393.6_Silent_p.Q146Q	p.Q146Q	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		3	722	-	Breast(26;7.76e-09)		146					Q4QRI7|Q9GZX2|Q9H4K8	Silent	SNP	ENST00000340177.5	37	c.438G>A	CCDS13493.1																																																																																				0.677	HRH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079994.1	NM_007232		22	27	0	0	0	1	0	22	27				
ARHGAP39	80728	broad.mit.edu	37	8	145806379	145806379	+	Silent	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr8:145806379C>T	ENST00000276826.5	-	2	564	c.363G>A	c.(361-363)gaG>gaA	p.E121E	ARHGAP39_ENST00000377307.2_Silent_p.E121E|ARHGAP39_ENST00000540274.1_Silent_p.E121E			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	121					axon guidance (GO:0007411)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGGGGCTGCTCTCCGCCGAGG	0.711																																						ENST00000276826.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(361-363)gaG>gaA		Rho GTPase activating protein 39							8.0	10.0	9.0					8																	145806379		2177	4245	6422	SO:0001819	synonymous_variant	80728				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity	g.chr8:145806379C>T		CCDS34971.1	8q24.3	2011-06-29			ENSG00000147799	ENSG00000147799		"""Rho GTPase activating proteins"""	29351	protein-coding gene	gene with protein product	"""RhoGAP93B homolog (Drosophila)"", ""crossGAP homolog (Drosophila)"""	615880				15755809	Standard	XM_005272344		Approved	KIAA1688, Vilse, CrGAP	uc003zds.1	Q9C0H5	OTTHUMG00000165182	ENST00000276826.5:c.363G>A	8.37:g.145806379C>T						ARHGAP39_ENST00000377307.2_Silent_p.E121E|ARHGAP39_ENST00000540274.1_Silent_p.E121E	p.E121E			Q9C0H5	RHG39_HUMAN			2	564	-			121					B4E1I1	Silent	SNP	ENST00000276826.5	37	c.363G>A																																																																																					0.711	ARHGAP39-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000382509.1			6	11	0	0	0	1	0	6	11				
UGT2A1	10941	broad.mit.edu	37	4	70512982	70512982	+	Silent	SNP	A	A	G			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr4:70512982A>G	ENST00000503640.1	-	1	436	c.381T>C	c.(379-381)gaT>gaC	p.D127D	UGT2A1_ENST00000514019.1_Silent_p.D127D|UGT2A1_ENST00000286604.4_Silent_p.D127D|UGT2A1_ENST00000512704.1_Silent_p.D127D	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	127					cellular glucuronidation (GO:0052695)|detection of chemical stimulus (GO:0009593)|metabolic process (GO:0008152)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAAGAACGCCATCACAGATCT	0.433																																						ENST00000503640.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(379-381)gaT>gaC		UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus							109.0	104.0	106.0					4																	70512982		2203	4299	6502	SO:0001819	synonymous_variant	10941				detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity	g.chr4:70512982A>G	AJ006054	CCDS3529.1, CCDS58901.1, CCDS58902.1	4q13	2013-03-28	2010-12-02					"""UDP glucuronosyltransferases"""	12542	protein-coding gene	gene with protein product		604716	"""UDP glycosyltransferase 2 family, polypeptide A1"", ""UDP glucuronosyltransferase 2 family, polypeptide A1"""			10359671	Standard	NM_001252274		Approved		uc011caq.2	Q9Y4X1	OTTHUMG00000184942	ENST00000503640.1:c.381T>C	4.37:g.70512982A>G						UGT2A1_ENST00000286604.4_Silent_p.D127D|UGT2A1_ENST00000512704.1_Silent_p.D127D|UGT2A1_ENST00000514019.1_Silent_p.D127D	p.D127D	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN			1	436	-			127					B4E2F4|D3GER1|D3GER2|E9PDM7|J3KNA3	Silent	SNP	ENST00000503640.1	37	c.381T>C	CCDS3529.1																																																																																				0.433	UGT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251554.3	NM_006798		20	114	0	0	0	1	0	20	114				
DRC7	84229	broad.mit.edu	37	16	57758618	57758618	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr16:57758618G>C	ENST00000360716.3	+	13	1850	c.1629G>C	c.(1627-1629)gaG>gaC	p.E543D	CCDC135_ENST00000336825.8_Missense_Mutation_p.E478D|CCDC135_ENST00000394337.4_Missense_Mutation_p.E543D			Q8IY82	CC135_HUMAN		543					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGCGGGAGGAGACACCCAGGA	0.557																																						ENST00000360716.3																			0				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						c.(1627-1629)gaG>gaC		coiled-coil domain containing 135							103.0	89.0	94.0					16																	57758618		2197	4300	6497	SO:0001583	missense	84229					cytoplasm		g.chr16:57758618G>C																												ENST00000360716.3:c.1629G>C	16.37:g.57758618G>C	ENSP00000353942:p.Glu543Asp					CCDC135_ENST00000394337.4_Missense_Mutation_p.E543D|CCDC135_ENST00000336825.8_Missense_Mutation_p.E478D	p.E543D			Q8IY82	CC135_HUMAN			13	1850	+			543					A8K943|Q8NAA0|Q9H080	Missense_Mutation	SNP	ENST00000360716.3	37	c.1629G>C	CCDS10787.1	.	.	.	.	.	.	.	.	.	.	.	18.20	3.571758	0.65765	.	.	ENSG00000159625	ENST00000394337;ENST00000336825;ENST00000360716	T;T;T	0.12672	2.81;2.66;2.81	5.18	5.18	0.71444	.	0.186499	0.47852	D	0.000217	T	0.34571	0.0902	M	0.79011	2.435	0.41908	D	0.990451	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.98	T	0.09907	-1.0653	10	0.59425	D	0.04	-39.9552	8.0853	0.30769	0.1713:0.0:0.8287:0.0	.	478;543	Q8IY82-2;Q8IY82	.;CC135_HUMAN	D	543;478;543	ENSP00000377869:E543D;ENSP00000338938:E478D;ENSP00000353942:E543D	ENSP00000338938:E478D	E	+	3	2	CCDC135	56316119	1.000000	0.71417	1.000000	0.80357	0.800000	0.45204	3.014000	0.49590	2.418000	0.82041	0.655000	0.94253	GAG		0.557	CCDC135-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433323.2			10	34	0	0	0	1	0	10	34				
TTN	7273	broad.mit.edu	37	2	179567232	179567232	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:179567232C>T	ENST00000591111.1	-	105	29655	c.29431G>A	c.(29431-29433)Gat>Aat	p.D9811N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.D10128N|TTN_ENST00000342992.6_Missense_Mutation_p.D8884N|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13889	Ig-like 79.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCGGCCATCATTCCTGAAG	0.433																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(30382-30384)Gat>Aat		titin							251.0	252.0	252.0					2																	179567232		1965	4164	6129	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179567232C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29431G>A	2.37:g.179567232C>T	ENSP00000465570:p.Asp9811Asn					TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D9811N|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8884N|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA	p.D10128N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		107	30606	-			9811			Glu-rich.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.30382G>A		.	.	.	.	.	.	.	.	.	.	C	23.3	4.396505	0.83011	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T;T	0.66995	-0.24;3.43	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78886	0.4354	M	0.67569	2.06	0.80722	D	1	P	0.50819	0.939	P	0.56278	0.795	T	0.80113	-0.1518	9	0.87932	D	0	.	19.8966	0.96963	0.0:1.0:0.0:0.0	.	9811	Q8WZ42	TITIN_HUMAN	N	8884;6	ENSP00000343764:D8884N;ENSP00000401501:D6N	ENSP00000343764:D8884N	D	-	1	0	TTN	179275477	1.000000	0.71417	0.981000	0.43875	0.753000	0.42808	7.818000	0.86416	2.700000	0.92200	0.655000	0.94253	GAT		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		73	261	0	0	0	1	0	73	261				
SPTBN5	51332	broad.mit.edu	37	15	42143085	42143085	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr15:42143085C>T	ENST00000320955.6	-	66	11115	c.10888G>A	c.(10888-10890)Gag>Aag	p.E3630K	RNA5SP393_ENST00000363423.1_RNA	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	3630	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACCAGCTCTCAGCCTGCTCT	0.667																																						ENST00000320955.6																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(10888-10890)Gag>Aag		spectrin, beta, non-erythrocytic 5							19.0	25.0	23.0					15																	42143085		2153	4257	6410	SO:0001583	missense	51332				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin		g.chr15:42143085C>T	AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.10888G>A	15.37:g.42143085C>T	ENSP00000317790:p.Glu3630Lys						p.E3630K	NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)	66	11115	-		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)	3630			PH.			Missense_Mutation	SNP	ENST00000320955.6	37	c.10888G>A		.	.	.	.	.	.	.	.	.	.	.	14.02	2.410083	0.42715	.	.	ENSG00000137877	ENST00000320955	T	0.31247	1.5	3.79	1.85	0.25348	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.916094	0.09119	N	0.846018	T	0.22205	0.0535	L	0.44542	1.39	0.09310	N	1	B	0.15141	0.012	B	0.16722	0.016	T	0.31052	-0.9957	10	0.26408	T	0.33	.	2.5589	0.04767	0.1982:0.5067:0.1917:0.1034	.	3630	Q9NRC6	SPTN5_HUMAN	K	3630	ENSP00000317790:E3630K	ENSP00000317790:E3630K	E	-	1	0	SPTBN5	39930377	0.001000	0.12720	0.170000	0.22879	0.485000	0.33311	0.864000	0.27926	0.557000	0.29117	0.655000	0.94253	GAG		0.667	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000420237.1	NM_016642		4	2	0	0	0	1	0	4	2				
ADAM8	101	broad.mit.edu	37	10	135083941	135083941	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr10:135083941C>T	ENST00000445355.3	-	16	1758	c.1708G>A	c.(1708-1710)Gtg>Atg	p.V570M	ADAM8_ENST00000559180.1_5'Flank|ADAM8_ENST00000415217.3_Missense_Mutation_p.V570M|ADAM8_ENST00000485491.2_Missense_Mutation_p.V531M	NM_001109.4	NP_001100.3	P78325	ADAM8_HUMAN	ADAM metallopeptidase domain 8	570					activation of MAPK activity involved in innate immune response (GO:0035419)|angiogenesis (GO:0001525)|cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration involved in inflammatory response (GO:0002523)|lymphocyte chemotaxis (GO:0048247)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell adhesion (GO:0045785)|positive regulation of eosinophil migration (GO:2000418)|positive regulation of fibronectin-dependent thymocyte migration (GO:2000415)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of neutrophil extravasation (GO:2000391)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein processing (GO:0010954)|positive regulation of protein secretion (GO:0050714)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|regulation of cell-cell adhesion (GO:0022407)|single organismal cell-cell adhesion (GO:0016337)	alpha9-beta1 integrin-ADAM8 complex (GO:0071133)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dense core granule membrane (GO:0032127)|integral component of plasma membrane (GO:0005887)|phagolysosome (GO:0032010)|plasma membrane (GO:0005886)|podosome (GO:0002102)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|protein self-association (GO:0043621)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		GCGTGGCACACATCCACGATG	0.662																																						ENST00000445355.3																			0				central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17						c.(1708-1710)Gtg>Atg		ADAM metallopeptidase domain 8							61.0	57.0	58.0					10																	135083941		2199	4300	6499	SO:0001583	missense	101				integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity	g.chr10:135083941C>T	D26579	CCDS31319.2, CCDS58102.1, CCDS58103.1	10q26.3	2014-03-20	2005-08-18		ENSG00000151651	ENSG00000151651		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	215	protein-coding gene	gene with protein product		602267	"""a disintegrin and metalloproteinase domain 8"""			9126482	Standard	NM_001109		Approved	CD156, MS2, CD156a	uc021qbe.1	P78325	OTTHUMG00000019309	ENST00000445355.3:c.1708G>A	10.37:g.135083941C>T	ENSP00000453302:p.Val570Met					ADAM8_ENST00000415217.3_Missense_Mutation_p.V570M|ADAM8_ENST00000485491.2_Missense_Mutation_p.V531M	p.V570M	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)	16	1758	-		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)	531					B4DVM6|H0YL36|H0YLR0|H0YN39	Missense_Mutation	SNP	ENST00000445355.3	37	c.1708G>A	CCDS31319.2																																																																																				0.662	ADAM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051118.4	NM_001109		18	62	0	0	0	1	0	18	62				
OR1D2	4991	broad.mit.edu	37	17	2995883	2995883	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr17:2995883C>G	ENST00000331459.1	-	1	407	c.408G>C	c.(406-408)atG>atC	p.M136I		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	136					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|G-protein coupled receptor signaling pathway (GO:0007186)|protein import into nucleus, translocation (GO:0000060)|sensory perception of smell (GO:0007608)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GCTTAGGGCTCATGGCTGTGG	0.552																																						ENST00000331459.1																			0				kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						c.(406-408)atG>atC		olfactory receptor, family 1, subfamily D, member 2							82.0	88.0	86.0					17																	2995883		2203	4300	6503	SO:0001583	missense	4991				cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity	g.chr17:2995883C>G	U04678	CCDS11019.1	17p13.3	2012-08-09			ENSG00000184166	ENSG00000184166		"""GPCR / Class A : Olfactory receptors"""	8183	protein-coding gene	gene with protein product		164342		OLFR1		1370859, 1840504	Standard	NM_002548		Approved	OR17-4	uc010vrb.2	P34982	OTTHUMG00000090619	ENST00000331459.1:c.408G>C	17.37:g.2995883C>G	ENSP00000327585:p.Met136Ile						p.M136I	NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN			1	407	-			136					Q6IFL8|Q96RA4|Q9UM78	Missense_Mutation	SNP	ENST00000331459.1	37	c.408G>C	CCDS11019.1	.	.	.	.	.	.	.	.	.	.	c	11.62	1.694231	0.30052	.	.	ENSG00000184166	ENST00000331459	T	0.00551	6.65	3.0	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00967	0.0032	M	0.80508	2.5	0.27378	N	0.955494	B	0.18013	0.025	B	0.15052	0.012	T	0.19031	-1.0318	9	0.66056	D	0.02	.	12.62	0.56597	0.0:1.0:0.0:0.0	.	136	P34982	OR1D2_HUMAN	I	136	ENSP00000327585:M136I	ENSP00000327585:M136I	M	-	3	0	OR1D2	2942633	0.998000	0.40836	0.908000	0.35775	0.883000	0.51084	2.830000	0.48136	1.489000	0.48450	0.543000	0.68304	ATG		0.552	OR1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207207.1	NM_002548		35	74	0	0	0	1	0	35	74				
LEPR	3953	broad.mit.edu	37	1	66102290	66102290	+	Silent	SNP	G	G	A	rs372019263		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:66102290G>A	ENST00000349533.6	+	20	3275	c.3090G>A	c.(3088-3090)gaG>gaA	p.E1030E	LEPR_ENST00000406510.3_Silent_p.E97E	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCTCATGGGAGATAGAGGCCC	0.388																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(3088-3090)gaG>gaA		leptin receptor		G		0,4396		0,0,2198	82.0	91.0	88.0		3090	3.7	0.9	1		88	1,8591		0,1,4295	no	coding-synonymous	LEPR	NM_002303.5		0,1,6493	AA,AG,GG		0.0116,0.0,0.0077		1030/1166	66102290	1,12987	2198	4296	6494	SO:0001819	synonymous_variant	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66102290G>A	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.3090G>A	1.37:g.66102290G>A						LEPR_ENST00000406510.3_Silent_p.E97E	p.E1030E	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	20	3275	+			1030					Q6FHL5	Silent	SNP	ENST00000349533.6	37	c.3090G>A	CCDS631.1																																																																																				0.388	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		57	145	0	0	0	1	0	57	145				
ZBTB7B	51043	broad.mit.edu	37	1	154987239	154987239	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:154987239G>A	ENST00000368426.3	+	3	240	c.103G>A	c.(103-105)Gac>Aac	p.D35N	ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D35N|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D69N|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D35N|ZBTB7B_ENST00000487542.1_3'UTR	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	35	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCACCTATGTGACCTCACCAT	0.607																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(103-105)Gac>Aac		zinc finger and BTB domain containing 7B							70.0	72.0	71.0					1																	154987239		2203	4300	6503	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154987239G>A	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.103G>A	1.37:g.154987239G>A	ENSP00000357411:p.Asp35Asn					ZBTB7B_ENST00000487542.1_3'UTR|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D35N|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D69N|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D35N	p.D35N	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		3	240	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		35			BTB.		B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.103G>A	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.466223	0.84425	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	D;D;D;D	0.90955	-2.76;-2.76;-2.76;-2.76	3.59	3.59	0.41128	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.64402	D	0.000001	D	0.96876	0.8980	H	0.98918	4.37	0.44539	D	0.997493	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.992;0.998	D	0.97637	1.0146	10	0.87932	D	0	.	12.7145	0.57107	0.0:0.0:1.0:0.0	.	35;35;69	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	N	35;35;69;35	ENSP00000438647:D35N;ENSP00000357411:D35N;ENSP00000406286:D69N;ENSP00000292176:D35N	ENSP00000292176:D35N	D	+	1	0	ZBTB7B	153253863	1.000000	0.71417	0.955000	0.39395	0.981000	0.71138	9.209000	0.95087	1.827000	0.53221	0.462000	0.41574	GAC		0.607	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		27	89	0	0	0	1	0	27	89				
TRIOBP	11078	broad.mit.edu	37	22	38120745	38120745	+	Missense_Mutation	SNP	G	G	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr22:38120745G>T	ENST00000406386.3	+	7	2437	c.2182G>T	c.(2182-2184)Gac>Tac	p.D728Y		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	728					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGCCCGACGGGACAATCCCAG	0.587																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(2182-2184)Gac>Tac		TRIO and F-actin binding protein							157.0	172.0	167.0					22																	38120745		1957	4163	6120	SO:0001583	missense	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120745G>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2182G>T	22.37:g.38120745G>T	ENSP00000384312:p.Asp728Tyr					RP1-37E16.12_ENST00000455236.1_RNA	p.D728Y	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	2437	+	Melanoma(58;0.0574)		728					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Missense_Mutation	SNP	ENST00000406386.3	37	c.2182G>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532332	0.45073	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	T	0.27720	1.65	4.83	1.54	0.23209	.	.	.	.	.	T	0.42539	0.1207	M	0.62723	1.935	0.09310	N	0.999999	D	0.58970	0.984	P	0.57371	0.819	T	0.20472	-1.0274	9	0.72032	D	0.01	.	7.02	0.24908	0.2887:0.0:0.7113:0.0	.	728	Q9H2D6	TARA_HUMAN	Y	728	ENSP00000384312:D728Y	ENSP00000384312:D728Y	D	+	1	0	TRIOBP	36450691	0.712000	0.27916	0.005000	0.12908	0.033000	0.12548	1.691000	0.37721	0.245000	0.21373	-0.261000	0.10672	GAC		0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			26	108	1	0	4.87955e-14	1	5.20486e-14	26	108				
ALPP	250	broad.mit.edu	37	2	233245430	233245430	+	Silent	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:233245430G>A	ENST00000392027.2	+	8	1232	c.963G>A	c.(961-963)ctG>ctA	p.L321L	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	321					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCGCCTGCTGAGCAGGAACC	0.637																																						ENST00000392027.2																			0				NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22						c.(961-963)ctG>ctA		alkaline phosphatase, placental							66.0	80.0	75.0					2																	233245430		2201	4298	6499	SO:0001819	synonymous_variant	250					anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr2:233245430G>A	M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.963G>A	2.37:g.233245430G>A						AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	p.L321L	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	8	1232	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	321					P05188|P06861|Q53S78|Q96DB7	Silent	SNP	ENST00000392027.2	37	c.963G>A	CCDS2490.1																																																																																				0.637	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257032.3	NM_001632		9	100	0	0	0	1	0	9	100				
CD163L1	283316	broad.mit.edu	37	12	7522148	7522148	+	Missense_Mutation	SNP	C	C	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr12:7522148C>A	ENST00000313599.3	-	15	3901	c.3844G>T	c.(3844-3846)Gtg>Ttg	p.V1282L	CD163L1_ENST00000396630.1_Missense_Mutation_p.V1282L|CD163L1_ENST00000416109.2_Missense_Mutation_p.V1292L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1282	SRCR 12. {ECO:0000255|PROSITE- ProRule:PRU00196}.					extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGACACACCACTTCCGCCTCG	0.632																																						ENST00000313599.3																			0				breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						c.(3844-3846)Gtg>Ttg		CD163 molecule-like 1							95.0	92.0	93.0					12																	7522148		2203	4300	6503	SO:0001583	missense	283316					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	g.chr12:7522148C>A	AF264014	CCDS8577.1, CCDS73434.1	12p13.31	2006-03-28	2006-03-28			ENSG00000177675			30375	protein-coding gene	gene with protein product		606079	"""CD163 antigen-like 1"""			11124526, 11086079	Standard	XM_005253348		Approved	M160, CD163B	uc001qsy.3	Q9NR16		ENST00000313599.3:c.3844G>T	12.37:g.7522148C>A	ENSP00000315945:p.Val1282Leu					CD163L1_ENST00000416109.2_Missense_Mutation_p.V1292L|CD163L1_ENST00000396630.1_Missense_Mutation_p.V1282L	p.V1282L			Q9NR16	C163B_HUMAN			15	3901	-			1282			SRCR 12.		B4E0G7|C9JHR7|E7EVK4|Q2M3B7|Q6UWC2	Missense_Mutation	SNP	ENST00000313599.3	37	c.3844G>T	CCDS8577.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056459	0.76074	.	.	ENSG00000177675	ENST00000313599;ENST00000416109;ENST00000396630	T;T;T	0.46451	0.87;0.87;0.87	2.67	2.67	0.31697	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	0.000000	0.44688	U	0.000429	T	0.77384	0.4122	H	0.99475	4.585	0.33926	D	0.641497	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.997	D	0.87896	0.2687	10	0.87932	D	0	.	11.4522	0.50160	0.0:1.0:0.0:0.0	.	1292;1282	E7EVK4;Q9NR16	.;C163B_HUMAN	L	1282;1292;1282	ENSP00000315945:V1282L;ENSP00000393474:V1292L;ENSP00000379871:V1282L	ENSP00000315945:V1282L	V	-	1	0	CD163L1	7413415	1.000000	0.71417	0.117000	0.21633	0.009000	0.06853	5.624000	0.67764	1.769000	0.52152	0.563000	0.77884	GTG		0.632	CD163L1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399329.1	NM_174941		24	84	1	0	7.4402e-23	1	8.00291e-23	24	84				
C6	729	broad.mit.edu	37	5	41199960	41199960	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr5:41199960C>T	ENST00000263413.3	-	4	619	c.355G>A	c.(355-357)Gcg>Acg	p.A119T	C6_ENST00000337836.5_Missense_Mutation_p.A119T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	119	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.		A -> E (in allotype C6 A; dbSNP:rs1801033). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:2468158, ECO:0000269|PubMed:2789218, ECO:0000269|PubMed:8101442, ECO:0000269|PubMed:8512929}.		complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACCAGAGGCGCAGTGCATGGC	0.453																																						ENST00000263413.3																			0				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96						c.(355-357)Gcg>Acg		complement component 6							97.0	92.0	94.0					5																	41199960		2203	4300	6503	SO:0001583	missense	729				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	g.chr5:41199960C>T	J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.355G>A	5.37:g.41199960C>T	ENSP00000263413:p.Ala119Thr					C6_ENST00000337836.5_Missense_Mutation_p.A119T	p.A119T	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN			4	619	-		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)	119		A -> E (in allotype C6 A; dbSNP:rs1801033).	TSP type-1 2.			Missense_Mutation	SNP	ENST00000263413.3	37	c.355G>A	CCDS3936.1	.	.	.	.	.	.	.	.	.	.	C	17.18	3.324127	0.60634	.	.	ENSG00000039537	ENST00000337836;ENST00000263413;ENST00000417809	T;T;T	0.18016	2.24;2.24;2.24	6.02	6.02	0.97574	.	0.148182	0.64402	D	0.000017	T	0.18551	0.0445	L	0.43152	1.355	0.21579	N	0.999633	B	0.06786	0.001	B	0.12156	0.007	T	0.12941	-1.0528	10	0.21014	T	0.42	-18.6289	19.3087	0.94175	0.0:1.0:0.0:0.0	.	119	P13671	CO6_HUMAN	T	119	ENSP00000338861:A119T;ENSP00000263413:A119T;ENSP00000396565:A119T	ENSP00000263413:A119T	A	-	1	0	C6	41235717	0.978000	0.34361	0.998000	0.56505	0.548000	0.35241	4.311000	0.59147	2.857000	0.98124	0.650000	0.86243	GCG		0.453	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211592.1			20	86	0	0	0	1	0	20	86				
CLASP2	23122	broad.mit.edu	37	3	33602351	33602351	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:33602351T>A	ENST00000468888.2	-	28	2949	c.2903A>T	c.(2902-2904)gAt>gTt	p.D968V	CLASP2_ENST00000539981.1_Missense_Mutation_p.D737V|CLASP2_ENST00000359576.5_Missense_Mutation_p.D959V|CLASP2_ENST00000307312.7_Missense_Mutation_p.D449V|CLASP2_ENST00000461133.3_Missense_Mutation_p.D727V|CLASP2_ENST00000480013.1_Missense_Mutation_p.D747V|CLASP2_ENST00000399362.4_Missense_Mutation_p.D967V			O75122	CLAP2_HUMAN	cytoplasmic linker associated protein 2	748	Interaction with RSN and localization to the Golgi and kinetochores.				axon guidance (GO:0007411)|establishment or maintenance of cell polarity (GO:0007163)|fucosylation (GO:0036065)|microtubule anchoring (GO:0034453)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of microtubule depolymerization (GO:0007026)|regulation of microtubule polymerization or depolymerization (GO:0031110)|regulation of microtubule-based process (GO:0032886)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)|microtubule plus-end binding (GO:0051010)			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						TCCAAGCAAATCAGCACCCAT	0.338																																						ENST00000399362.4																			0				breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2899-2901)gAt>gTt		cytoplasmic linker associated protein 2							210.0	210.0	210.0					3																	33602351		1835	4099	5934	SO:0001583	missense	23122							g.chr3:33602351T>A	AB014527		3p24.3	2013-01-18			ENSG00000163539	ENSG00000163539			17078	protein-coding gene	gene with protein product		605853				9734811, 10899121	Standard	NM_015097		Approved	KIAA0627	uc021wvc.1	O75122	OTTHUMG00000156489	ENST00000468888.2:c.2903A>T	3.37:g.33602351T>A	ENSP00000419974:p.Asp968Val					CLASP2_ENST00000359576.5_Missense_Mutation_p.D959V|CLASP2_ENST00000468888.2_Missense_Mutation_p.D968V|CLASP2_ENST00000539981.1_Missense_Mutation_p.D737V|CLASP2_ENST00000461133.3_Missense_Mutation_p.D727V|CLASP2_ENST00000307312.7_Missense_Mutation_p.D449V|CLASP2_ENST00000480013.1_Missense_Mutation_p.D747V	p.D967V	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN			28	3253	-			969					Q7L8F6|Q8N6R6|Q9BQT3|Q9BQT4|Q9H7A3|Q9NSZ2	Missense_Mutation	SNP	ENST00000468888.2	37	c.2900A>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.0|22.0	4.232773|4.232773	0.79688|0.79688	.|.	.|.	ENSG00000163539|ENSG00000163539	ENST00000468888;ENST00000399362;ENST00000359576;ENST00000307312;ENST00000539981;ENST00000480013;ENST00000461133|ENST00000480385	T;T;T;T;T;T;T|.	0.68331|.	-0.32;-0.32;-0.32;-0.32;-0.32;-0.32;-0.32|.	5.62|5.62	5.62|5.62	0.85841|0.85841	Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.76126|.	0.3944|.	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;0.999|.	D;D;D|.	0.87578|.	0.998;0.998;0.998|.	T|.	0.77216|.	-0.2669|.	10|.	0.87932|.	D|.	0|.	-18.3755|-18.3755	15.8389|15.8389	0.78824|0.78824	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	748;959;967|.	O75122;F5H604;E7ERI8|.	CLAP2_HUMAN;.;.|.	V|C	968;967;959;449;737;747;727|6	ENSP00000419974:D968V;ENSP00000382297:D967V;ENSP00000352581:D959V;ENSP00000304743:D449V;ENSP00000439039:D737V;ENSP00000417518:D747V;ENSP00000419305:D727V|.	ENSP00000304743:D449V|.	D|X	-|-	2|3	0|0	CLASP2|CLASP2	33577355|33577355	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.717000|7.717000	0.84732|0.84732	2.150000|2.150000	0.67090|0.67090	0.533000|0.533000	0.62120|0.62120	GAT|TGA		0.338	CLASP2-001	NOVEL	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000344320.4	NM_001207044		5	210	0	0	0	1	0	5	210				
ATR	545	broad.mit.edu	37	3	142176529	142176529	+	Silent	SNP	A	A	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:142176529A>T	ENST00000350721.4	-	45	7693	c.7572T>A	c.(7570-7572)ggT>ggA	p.G2524G	ATR_ENST00000383101.3_Silent_p.G2460G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	2524	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTCCCATAGGACCCATTCCAT	0.393								Other conserved DNA damage response genes																														ENST00000350721.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(7570-7572)ggT>ggA	Other conserved DNA damage response genes	ataxia telangiectasia and Rad3 related							98.0	92.0	94.0					3																	142176529		2203	4300	6503	SO:0001819	synonymous_variant	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142176529A>T	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.7572T>A	3.37:g.142176529A>T						ATR_ENST00000383101.3_Silent_p.G2460G	p.G2524G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN			45	7693	-			2524			PI3K/PI4K.		Q59HB2|Q7KYL3|Q93051|Q9BXK4	Silent	SNP	ENST00000350721.4	37	c.7572T>A	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	11.44	1.640697	0.29157	.	.	ENSG00000175054	ENST00000513291	.	.	.	5.5	0.431	0.16523	.	.	.	.	.	T	0.50888	0.1642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.36578	-0.9742	4	.	.	.	-18.5547	5.211	0.15316	0.5628:0.1439:0.2933:0.0	.	.	.	.	T	371	.	.	S	-	1	0	ATR	143659219	0.375000	0.25089	1.000000	0.80357	0.997000	0.91878	-0.237000	0.08990	0.063000	0.16370	0.397000	0.26171	TCC		0.393	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184		32	96	0	0	0	1	0	32	96				
SLITRK2	84631	broad.mit.edu	37	X	144906469	144906469	+	Silent	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chrX:144906469C>T	ENST00000370490.1	+	1	6781	c.2526C>T	c.(2524-2526)atC>atT	p.I842I	SLITRK2_ENST00000447897.2_Silent_p.I842I|SLITRK2_ENST00000428560.2_Silent_p.I842I|SLITRK2_ENST00000434188.2_Silent_p.I842I|SLITRK2_ENST00000413937.2_Silent_p.I842I|TMEM257_ENST00000408967.2_5'Flank			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	842					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAACTGCAATCAGTCAGCTGT	0.448																																						ENST00000370490.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86						c.(2524-2526)atC>atT		SLIT and NTRK-like family, member 2							51.0	48.0	49.0					X																	144906469		2203	4299	6502	SO:0001819	synonymous_variant	84631					integral to membrane		g.chrX:144906469C>T	Y19205	CCDS14680.1	Xq27.3	2008-02-05	2004-03-11		ENSG00000185985	ENSG00000185985			13449	protein-coding gene	gene with protein product		300561	"""slit-like 1 (Drosophila)"""	SLITL1		11347906, 14557068	Standard	NM_032539		Approved	KIAA1854, CXorf2	uc011mwr.2	Q9H156	OTTHUMG00000022595	ENST00000370490.1:c.2526C>T	X.37:g.144906469C>T						SLITRK2_ENST00000413937.2_Silent_p.I842I|SLITRK2_ENST00000447897.2_Silent_p.I842I|SLITRK2_ENST00000428560.2_Silent_p.I842I|SLITRK2_ENST00000434188.2_Silent_p.I842I	p.I842I			Q9H156	SLIK2_HUMAN			1	6781	+	Acute lymphoblastic leukemia(192;6.56e-05)		842					A8K117|Q2KHN3|Q5JXB1|Q8NBC7|Q96JH3	Silent	SNP	ENST00000370490.1	37	c.2526C>T	CCDS14680.1																																																																																				0.448	SLITRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058633.1	NM_032539		30	79	0	0	0	1	0	30	79				
LAMA2	3908	broad.mit.edu	37	6	129371200	129371200	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr6:129371200C>T	ENST00000421865.2	+	2	299	c.250C>T	c.(250-252)Cga>Tga	p.R84*		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	84	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCCGCAGTGTCGAATCTGCAA	0.458																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(250-252)Cga>Tga		laminin, alpha 2							159.0	135.0	143.0					6																	129371200		2203	4300	6503	SO:0001587	stop_gained	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129371200C>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.250C>T	6.37:g.129371200C>T	ENSP00000400365:p.Arg84*						p.R84*	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	2	299	+			84			Laminin N-terminal.		Q14736|Q5VUM2|Q93022	Nonsense_Mutation	SNP	ENST00000421865.2	37	c.250C>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.191642	0.78902	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	.	.	.	5.44	5.44	0.79542	.	0.096942	0.42964	D	0.000624	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2501	0.93921	0.0:1.0:0.0:0.0	.	.	.	.	X	84	.	ENSP00000346769:R84X	R	+	1	2	LAMA2	129412893	1.000000	0.71417	1.000000	0.80357	0.781000	0.44180	2.981000	0.49329	2.552000	0.86080	0.561000	0.74099	CGA		0.458	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			24	70	0	0	0	1	0	24	70				
BMS1P20	96610	broad.mit.edu	37	22	22664186	22664186	+	RNA	SNP	A	A	G	rs369741558		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr22:22664186A>G	ENST00000426066.1	+	0	709					NR_027293.1				BMS1 pseudogene 20																		CAGATCAAGAAAGCACTCTGA	0.498																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664186A>G			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664186A>G								NR_027293.1						0	709	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.498	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	120	0	0	0	1	0	4	120				
TRIOBP	11078	broad.mit.edu	37	22	38120199	38120199	+	Nonsense_Mutation	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr22:38120199C>T	ENST00000406386.3	+	7	1891	c.1636C>T	c.(1636-1638)Cga>Tga	p.R546*		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	546					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TAGAGCTGCACGAGACAACCC	0.587																																						ENST00000406386.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						c.(1636-1638)Cga>Tga		TRIO and F-actin binding protein							123.0	183.0	164.0					22																	38120199		1970	4180	6150	SO:0001587	stop_gained	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38120199C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.1636C>T	22.37:g.38120199C>T	ENSP00000384312:p.Arg546*					RP1-37E16.12_ENST00000455236.1_RNA	p.R546*	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN			7	1891	+	Melanoma(58;0.0574)		546					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Nonsense_Mutation	SNP	ENST00000406386.3	37	c.1636C>T	CCDS43015.1	.	.	.	.	.	.	.	.	.	.	-	24.8	4.569181	0.86439	.	.	ENSG00000100106	ENST00000406386;ENST00000417174	.	.	.	1.95	0.576	0.17380	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	5.3893	0.16236	0.4859:0.5141:0.0:0.0	.	.	.	.	X	546	.	ENSP00000384312:R546X	R	+	1	2	TRIOBP	36450145	0.000000	0.05858	0.001000	0.08648	0.025000	0.11179	-1.665000	0.01965	-0.019000	0.14055	0.121000	0.15741	CGA		0.587	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			6	378	0	0	0	1	0	6	378				
MTDH	92140	broad.mit.edu	37	8	98703324	98703324	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr8:98703324C>T	ENST00000336273.3	+	6	1284	c.956C>T	c.(955-957)cCa>cTa	p.P319L	MTDH_ENST00000519934.1_Missense_Mutation_p.P296L	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	319					lipopolysaccharide-mediated signaling pathway (GO:0031663)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of angiogenesis (GO:0045766)|positive regulation of autophagy (GO:0010508)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase B signaling (GO:0051897)|tight junction assembly (GO:0070830)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)	double-stranded RNA binding (GO:0003725)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			AAAACTGAGCCATCTGCCTGG	0.458																																						ENST00000336273.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32						c.(955-957)cCa>cTa		metadherin							117.0	123.0	121.0					8																	98703324		2203	4300	6503	SO:0001583	missense	92140				lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	g.chr8:98703324C>T	AF411226	CCDS6274.1	8q22.1	2014-07-14			ENSG00000147649	ENSG00000147649			29608	protein-coding gene	gene with protein product	"""astrocyte elevated gene 1"""	610323				15093543	Standard	NM_178812		Approved	LYRIC, 3D3, AEG-1	uc003yhz.3	Q86UE4	OTTHUMG00000164692	ENST00000336273.3:c.956C>T	8.37:g.98703324C>T	ENSP00000338235:p.Pro319Leu					MTDH_ENST00000519934.1_Missense_Mutation_p.P296L	p.P319L	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.178)		6	1284	+	Breast(36;2.56e-06)		319					Q05DH2|Q52QU9|Q6PK07|Q8TCX3	Missense_Mutation	SNP	ENST00000336273.3	37	c.956C>T	CCDS6274.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.4|20.4	3.981049|3.981049	0.74474|0.74474	.|.	.|.	ENSG00000147649|ENSG00000147649	ENST00000522313|ENST00000336273;ENST00000519934	.|T;T	.|0.47528	.|0.84;0.86	5.91|5.91	5.03|5.03	0.67393|0.67393	.|.	.|0.396860	.|0.27415	.|N	.|0.019465	T|T	0.45316|0.45316	0.1336|0.1336	L|L	0.55481|0.55481	1.735|1.735	0.44168|0.44168	D|D	0.996973|0.996973	.|B	.|0.30361	.|0.277	.|B	.|0.27380	.|0.079	T|T	0.46470|0.46470	-0.9189|-0.9189	5|10	.|0.72032	.|D	.|0.01	-0.8315|-0.8315	15.0302|15.0302	0.71701|0.71701	0.1419:0.8581:0.0:0.0|0.1419:0.8581:0.0:0.0	.|.	.|319	.|Q86UE4	.|LYRIC_HUMAN	Y|L	202|319;296	.|ENSP00000338235:P319L;ENSP00000428168:P296L	.|ENSP00000338235:P319L	H|P	+|+	1|2	0|0	MTDH|MTDH	98772500|98772500	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.997000|0.997000	0.91878|0.91878	3.778000|3.778000	0.55371|0.55371	1.483000|1.483000	0.48342|0.48342	0.650000|0.650000	0.86243|0.86243	CAT|CCA		0.458	MTDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379772.2			24	105	0	0	0	1	0	24	105				
TNN	63923	broad.mit.edu	37	1	175049481	175049481	+	Missense_Mutation	SNP	C	C	T	rs184800708		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:175049481C>T	ENST00000239462.4	+	4	1080	c.967C>T	c.(967-969)Cct>Tct	p.P323S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	323	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGGTTTGCTGCCTGGAACCAA	0.532													C|||	1	0.000199681	0.0	0.0014	5008	,	,		20058	0.0		0.0	False		,,,				2504	0.0					ENST00000239462.4																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156						c.(967-969)Cct>Tct		tenascin N							122.0	116.0	118.0					1																	175049481		2203	4300	6503	SO:0001583	missense	63923				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		g.chr1:175049481C>T	AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.967C>T	1.37:g.175049481C>T	ENSP00000239462:p.Pro323Ser						p.P323S	NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)	4	1080	+		Breast(1374;0.000962)	323			Fibronectin type-III 1.		B9EGP3|Q5R360	Missense_Mutation	SNP	ENST00000239462.4	37	c.967C>T	CCDS30943.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.64	3.864565	0.71949	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.68479	-0.33	5.69	4.77	0.60923	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.102016	0.64402	N	0.000001	D	0.82453	0.5040	M	0.83603	2.65	0.45979	D	0.998794	D;D	0.89917	1.0;1.0	D;D	0.97110	0.995;1.0	D	0.85222	0.1027	10	0.72032	D	0.01	.	14.2341	0.65913	0.0:0.9279:0.0:0.0721	.	323;323	B3KXB6;Q9UQP3	.;TENN_HUMAN	S	323	ENSP00000239462:P323S	ENSP00000239462:P323S	P	+	1	0	TNN	173316104	0.996000	0.38824	1.000000	0.80357	0.915000	0.54546	3.608000	0.54109	1.397000	0.46682	0.650000	0.86243	CCT		0.532	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084422.1	XM_040527		6	72	0	0	0	1	0	6	72				
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Intron	SNP	T	T	C	rs148754551	byFrequency	TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr20:1585397T>C	ENST00000381605.4	-	1	141				SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381596.1_5'Flank|SIRPB1_ENST00000279477.7_Missense_Mutation_p.T248A|SIRPB1_ENST00000381603.3_Intron|RP4-576H24.4_ENST00000564763.1_Intron	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1						cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)		p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627													t|||	2569	0.512979	0.6967	0.33	5008	,	,		3683	0.4435		0.4473	False		,,,				2504	0.5337					ENST00000279477.7																			5	Substitution - Missense(5)	p.T248A(5)	kidney(3)|prostate(2)	central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						c.(742-744)Acc>Gcc		signal-regulatory protein beta 1							20.0	30.0	27.0					20																	1585397		375	895	1270	SO:0001627	intron_variant	10326				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	g.chr20:1585397T>C	Y10376	CCDS13019.1, CCDS42850.1, CCDS46571.1	20p13	2013-01-11			ENSG00000101307	ENSG00000101307		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15928	protein-coding gene	gene with protein product		603889				9062191, 16339511	Standard	NM_001083910		Approved	SIRP-BETA-1, CD172b	uc010gai.3	O00241	OTTHUMG00000031676	ENST00000381605.4:c.76+15117A>G	20.37:g.1585397T>C						RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron	p.T248A	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN			3	806	-			248					A6NLM2|B2R8V0|Q5TFQ9|Q5TFR0|Q8TB12|Q9H1U5|Q9Y4V0	Missense_Mutation	SNP	ENST00000381605.4	37	c.742A>G	CCDS13019.1	757	0.3466117216117216	239	0.48577235772357724	97	0.26795580110497236	219	0.38286713286713286	202	0.26649076517150394	.	0.464	-0.887787	0.02511	.	.	ENSG00000101307	ENST00000279477	T	0.11930	2.73	2.24	-0.597	0.11653	.	.	.	.	.	T	0.00012	0.0000	N	0.20530	0.585	0.47778	P	4.809999999999537E-4	B	0.02656	0.0	B	0.06405	0.002	T	0.45483	-0.9258	8	0.13470	T	0.59	.	3.263	0.06855	0.2055:0.1485:0.0:0.646	.	248	Q5TFQ8	SIRBL_HUMAN	A	248	ENSP00000279477:T248A	ENSP00000279477:T248A	T	-	1	0	SIRPB1	1533397	0.001000	0.12720	0.631000	0.29282	0.161000	0.22273	-0.285000	0.08410	-0.814000	0.04352	-1.120000	0.02017	ACC		0.627	SIRPB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000077555.2	NM_006065		7	98	0	0	0	1	0	7	98				
PVRL3	25945	broad.mit.edu	37	3	110837604	110837604	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr3:110837604G>C	ENST00000485303.1	+	3	879	c.604G>C	c.(604-606)Gca>Cca	p.A202P	PVRL3_ENST00000319792.3_Missense_Mutation_p.A202P|PVRL3_ENST00000493615.1_Missense_Mutation_p.A179P	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	202	Ig-like C2-type 1.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						AAAACCCGTTGCACATATTGA	0.438																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.(604-606)Gca>Cca		poliovirus receptor-related 3							72.0	61.0	65.0					3																	110837604		2203	4300	6503	SO:0001583	missense	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110837604G>C	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.604G>C	3.37:g.110837604G>C	ENSP00000418070:p.Ala202Pro					PVRL3_ENST00000319792.3_Missense_Mutation_p.A202P|PVRL3_ENST00000493615.1_Missense_Mutation_p.A179P	p.A202P	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN			3	879	+			202			Ig-like C2-type 1.		E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Missense_Mutation	SNP	ENST00000485303.1	37	c.604G>C	CCDS2957.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.944195	0.92593	.	.	ENSG00000177707	ENST00000485303;ENST00000319792;ENST00000493615	T;T;T	0.71698	-0.59;-0.59;-0.59	5.6	5.6	0.85130	CD80-like, immunoglobulin C2-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81442	0.4823	L	0.56280	1.765	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.80961	-0.1148	10	0.49607	T	0.09	.	17.1218	0.86704	0.0:0.0:1.0:0.0	.	179;202	E9PFR0;Q9NQS3	.;PVRL3_HUMAN	P	202;202;179	ENSP00000418070:A202P;ENSP00000321514:A202P;ENSP00000420579:A179P	ENSP00000321514:A202P	A	+	1	0	PVRL3	112320294	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.244000	0.72391	2.648000	0.89879	0.650000	0.86243	GCA		0.438	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		4	107	0	0	0	1	0	4	107				
AMOTL1	154810	broad.mit.edu	37	11	94599237	94599237	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr11:94599237G>C	ENST00000433060.2	+	11	2533	c.2392G>C	c.(2392-2394)Gca>Cca	p.A798P	AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000317829.8_Missense_Mutation_p.A748P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	798					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TCCATCCATAGCAGCAGCTAC	0.552																																						ENST00000433060.2																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36						c.(2392-2394)Gca>Cca		angiomotin like 1							58.0	62.0	61.0					11																	94599237		1997	4171	6168	SO:0001583	missense	154810					cytoplasm|tight junction	identical protein binding	g.chr11:94599237G>C	AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.2392G>C	11.37:g.94599237G>C	ENSP00000387739:p.Ala798Pro					AMOTL1_ENST00000317829.8_Missense_Mutation_p.A748P|AMOTL1_ENST00000317837.9_Intron	p.A798P	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN			11	2533	+		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)	798					Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	ENST00000433060.2	37	c.2392G>C	CCDS44712.1	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121667	0.56613	.	.	ENSG00000166025	ENST00000317829;ENST00000433060	T;T	0.20332	2.09;2.08	5.23	5.23	0.72850	Angiomotin, C-terminal (1);	0.000000	0.64402	D	0.000002	T	0.42223	0.1193	L	0.47716	1.5	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.78314	0.991;0.968	T	0.23511	-1.0186	10	0.62326	D	0.03	-12.0057	18.8263	0.92121	0.0:0.0:1.0:0.0	.	748;798	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	P	748;798	ENSP00000320968:A748P;ENSP00000387739:A798P	ENSP00000320968:A748P	A	+	1	0	AMOTL1	94238885	0.987000	0.35691	0.405000	0.26409	0.137000	0.21094	2.547000	0.45786	2.453000	0.82957	0.561000	0.74099	GCA		0.552	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396474.3	NM_130847		6	82	0	0	0	1	0	6	82				
FAM53B	9679	broad.mit.edu	37	10	126312058	126312058	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr10:126312058G>A	ENST00000337318.3	-	5	1233	c.1022C>T	c.(1021-1023)tCa>tTa	p.S341L	FAM53B_ENST00000392754.3_Missense_Mutation_p.S341L|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	341										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GCCGGAGGCTGAGAGCAGGGC	0.716																																						ENST00000337318.3																			0				cervix(1)|lung(5)|ovary(2)|pancreas(1)	9						c.(1021-1023)tCa>tTa		family with sequence similarity 53, member B							10.0	11.0	11.0					10																	126312058		2189	4282	6471	SO:0001583	missense	9679							g.chr10:126312058G>A	D50930	CCDS7641.1	10q26.13	2004-11-24	2004-11-24	2004-11-24	ENSG00000189319	ENSG00000189319			28968	protein-coding gene	gene with protein product			"""KIAA0140"""	KIAA0140		8590280	Standard	NM_014661		Approved	bA12J10.2	uc001lhv.1	Q14153	OTTHUMG00000019215	ENST00000337318.3:c.1022C>T	10.37:g.126312058G>A	ENSP00000338532:p.Ser341Leu					FAM53B_ENST00000392754.3_Missense_Mutation_p.S341L|RP11-12J10.3_ENST00000494792.1_Intron	p.S341L	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)	5	1233	-		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)	341					D3DRF1|Q5VUW1|Q5VUW2|Q8N5S6	Missense_Mutation	SNP	ENST00000337318.3	37	c.1022C>T	CCDS7641.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.090125	0.76756	.	.	ENSG00000189319	ENST00000337318;ENST00000392754	.	.	.	5.18	5.18	0.71444	.	0.584893	0.16161	N	0.226775	T	0.54679	0.1873	L	0.44542	1.39	0.80722	D	1	B	0.33612	0.419	B	0.36244	0.22	T	0.58183	-0.7681	9	0.66056	D	0.02	-20.555	16.0011	0.80292	0.0:0.0:1.0:0.0	.	341	Q14153	FA53B_HUMAN	L	341	.	ENSP00000338532:S341L	S	-	2	0	FAM53B	126302048	0.650000	0.27331	0.216000	0.23742	0.669000	0.39330	1.960000	0.40422	2.688000	0.91661	0.655000	0.94253	TCA		0.716	FAM53B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050879.1	NM_014661		5	10	0	0	0	1	0	5	10				
DUS4L	11062	broad.mit.edu	37	7	107211589	107211589	+	Splice_Site	SNP	G	G	A	rs533668907		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr7:107211589G>A	ENST00000265720.3	+	4	478		c.e4-1		DUS4L_ENST00000402620.1_Splice_Site	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)								flavin adenine dinucleotide binding (GO:0050660)|tRNA dihydrouridine synthase activity (GO:0017150)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TATGCTCACAGGTTGGCTTTT	0.338													G|||	1	0.000199681	0.0	0.0	5008	,	,		17038	0.001		0.0	False		,,,				2504	0.0					ENST00000265720.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						c.e4-1		dihydrouridine synthase 4-like (S. cerevisiae)							122.0	114.0	117.0					7																	107211589		2203	4300	6503	SO:0001630	splice_region_variant	11062				tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity	g.chr7:107211589G>A	U62767	CCDS5745.1	7q22-q31	2007-12-04			ENSG00000105865	ENSG00000105865			21517	protein-coding gene	gene with protein product	"""protein similar to E.coli yhdg and R. capsulatus nifR3"""						Standard	NM_181581		Approved	PP35, DUS4	uc031syv.1	O95620	OTTHUMG00000154763	ENST00000265720.3:c.117-1G>A	7.37:g.107211589G>A						DUS4L_ENST00000402620.1_Splice_Site		NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN			4	478	+								B4DLX0|Q2NKK1	Splice_Site	SNP	ENST00000265720.3	37		CCDS5745.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371344	0.82573	.	.	ENSG00000105865	ENST00000265720	.	.	.	5.28	5.28	0.74379	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.9228	0.92532	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DUS4L	106998825	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.439000	0.97543	2.446000	0.82766	0.655000	0.94253	.		0.338	DUS4L-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336967.2	NM_181581	Intron	15	62	0	0	0	1	0	15	62				
COL4A2	1284	broad.mit.edu	37	13	111145581	111145581	+	Missense_Mutation	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr13:111145581C>T	ENST00000360467.5	+	39	3892	c.3586C>T	c.(3586-3588)Cgc>Tgc	p.R1196C		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1196	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCGTGGGATCCGCGGCTTACA	0.607																																						ENST00000360467.5																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3586-3588)Cgc>Tgc		collagen, type IV, alpha 2							56.0	66.0	63.0					13																	111145581		1938	4136	6074	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111145581C>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3586C>T	13.37:g.111145581C>T	ENSP00000353654:p.Arg1196Cys						p.R1196C	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		39	3892	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	1196			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.3586C>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.760411	0.31137	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.94330	-3.4	5.28	-8.74	0.00838	.	0.370264	0.25900	N	0.027566	D	0.94172	0.8130	M	0.81497	2.545	0.29570	N	0.849955	D	0.71674	0.998	D	0.67725	0.953	D	0.91279	0.5050	10	0.51188	T	0.08	.	10.1975	0.43062	0.3468:0.1204:0.5328:0.0	.	1196	P08572	CO4A2_HUMAN	C	1196	ENSP00000353654:R1196C	ENSP00000257309:R1196C	R	+	1	0	COL4A2	109943582	0.023000	0.18921	0.012000	0.15200	0.134000	0.20937	-0.431000	0.06965	-1.933000	0.01052	-1.373000	0.01185	CGC		0.607	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846		5	109	0	0	0	1	0	5	109				
MYT1	4661	broad.mit.edu	37	20	62839350	62839350	+	Silent	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr20:62839350G>A	ENST00000328439.1	+	7	1165	c.801G>A	c.(799-801)gaG>gaA	p.E267E	MYT1_ENST00000536311.1_Silent_p.E267E|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					aggaggaggaggaagaggagg	0.577																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(799-801)gaG>gaA		myelin transcription factor 1							19.0	19.0	19.0					20																	62839350		2203	4300	6503	SO:0001819	synonymous_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62839350G>A	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.801G>A	20.37:g.62839350G>A						MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.E267E	p.E267E			Q01538	MYT1_HUMAN			7	1165	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		267			Glu-rich.		B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	ENST00000328439.1	37	c.801G>A	CCDS13558.1																																																																																				0.577	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		3	27	0	0	0	1	0	3	27				
ANKS1B	56899	broad.mit.edu	37	12	99640152	99640152	+	Missense_Mutation	SNP	C	C	G			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr12:99640152C>G	ENST00000547776.2	-	13	2246	c.2247G>C	c.(2245-2247)gaG>gaC	p.E749D	ANKS1B_ENST00000550833.1_5'Flank|ANKS1B_ENST00000547010.1_Missense_Mutation_p.E329D|ANKS1B_ENST00000329257.7_Missense_Mutation_p.E749D	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	749						cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTGATGTTTTCTCATTGGAAG	0.408																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(2245-2247)gaG>gaC		ankyrin repeat and sterile alpha motif domain containing 1B							90.0	85.0	87.0					12																	99640152		1907	4104	6011	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99640152C>G	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2247G>C	12.37:g.99640152C>G	ENSP00000449629:p.Glu749Asp					ANKS1B_ENST00000329257.7_Missense_Mutation_p.E749D|ANKS1B_ENST00000547010.1_Missense_Mutation_p.E329D	p.E749D	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	13	2246	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	749					A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.2247G>C	CCDS55872.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.15|11.15	1.553979|1.553979	0.27739|0.27739	.|.	.|.	ENSG00000185046|ENSG00000185046	ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702|ENST00000550778	T;T;T|.	0.63913|.	0.71;-0.07;0.72|.	5.21|5.21	1.25|1.25	0.21368|0.21368	.|.	0.331738|.	0.28595|.	N|.	0.014785|.	T|T	0.39200|0.39200	0.1069|0.1069	L|L	0.35854|0.35854	1.095|1.095	0.58432|0.58432	D|D	0.999999|0.999999	B;B|.	0.06786|.	0.001;0.0|.	B;B|.	0.14578|.	0.011;0.0|.	T|T	0.14727|0.14727	-1.0462|-1.0462	9|5	.|.	.|.	.|.	-2.8985|-2.8985	1.3963|1.3963	0.02261|0.02261	0.1212:0.3346:0.2489:0.2953|0.1212:0.3346:0.2489:0.2953	.|.	329;749|.	Q7Z6G8-6;Q7Z6G8|.	.;ANS1B_HUMAN|.	D|T	749;329;749;328|21	ENSP00000449629:E749D;ENSP00000448512:E329D;ENSP00000331381:E749D|.	.|.	E|R	-|-	3|2	2|0	ANKS1B|ANKS1B	98164283|98164283	0.998000|0.998000	0.40836|0.40836	0.457000|0.457000	0.27056|0.27056	0.987000|0.987000	0.75469|0.75469	0.673000|0.673000	0.25203|0.25203	0.022000|0.022000	0.15160|0.15160	0.462000|0.462000	0.41574|0.41574	GAG|AGA		0.408	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		13	37	0	0	0	1	0	13	37				
SPEG	10290	broad.mit.edu	37	2	220309638	220309638	+	Silent	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:220309638C>T	ENST00000312358.7	+	3	702	c.570C>T	c.(568-570)agC>agT	p.S190S	SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.S86S	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	190					cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGTGGGGCAGCGGGCAGACGG	0.706																																						ENST00000312358.7																			0				breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100						c.(568-570)agC>agT		SPEG complex locus							34.0	40.0	38.0					2																	220309638		2023	4161	6184	SO:0001819	synonymous_variant	10290				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	g.chr2:220309638C>T	BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.570C>T	2.37:g.220309638C>T						SPEG_ENST00000396695.2_5'UTR|SPEG_ENST00000396698.1_Silent_p.S86S	p.S190S	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)	3	702	+		Renal(207;0.0183)	190					A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Silent	SNP	ENST00000312358.7	37	c.570C>T	CCDS42824.1	.	.	.	.	.	.	.	.	.	.	C	9.580	1.123308	0.20959	.	.	ENSG00000072195	ENST00000451076	.	.	.	4.86	4.86	0.63082	.	.	.	.	.	T	0.73869	0.3642	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73799	-0.3869	4	.	.	.	.	17.9794	0.89136	0.0:1.0:0.0:0.0	.	.	.	.	W	41	.	.	R	+	1	2	SPEG	220017882	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	3.700000	0.54786	2.227000	0.72691	0.442000	0.29010	CGG		0.706	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130252.2	NM_005876		19	78	0	0	0	1	0	19	78				
RAG1	5896	broad.mit.edu	37	11	36597294	36597294	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr11:36597294G>C	ENST00000299440.5	+	2	2552	c.2440G>C	c.(2440-2442)Gag>Cag	p.E814Q		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	814					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CTTCCAGCTAGAGATAGGGGA	0.473									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	ENST00000299440.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2440-2442)Gag>Cag		recombination activating gene 1							68.0	68.0	68.0					11																	36597294		2202	4298	6500	SO:0001583	missense	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597294G>C	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2440G>C	11.37:g.36597294G>C	ENSP00000299440:p.Glu814Gln						p.E814Q	NM_000448.2	NP_000439.1	P15918	RAG1_HUMAN			2	2552	+	all_lung(20;0.226)	all_hematologic(20;0.107)	814					E9PPC4|Q8IY72|Q8NER2	Missense_Mutation	SNP	ENST00000299440.5	37	c.2440G>C	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.138590	0.77775	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	D;D	0.91124	-2.79;-2.79	6.13	6.13	0.99165	.	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	H	0.95745	3.715	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	D	0.97255	0.9900	10	0.87932	D	0	.	20.8401	0.99726	0.0:0.0:1.0:0.0	.	814	P15918	RAG1_HUMAN	Q	814	ENSP00000434610:E814Q;ENSP00000299440:E814Q	ENSP00000299440:E814Q	E	+	1	0	RAG1	36553870	1.000000	0.71417	0.994000	0.49952	0.994000	0.84299	9.476000	0.97823	2.932000	0.99384	0.644000	0.83932	GAG		0.473	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		27	79	0	0	0	1	0	27	79				
PPT1	5538	broad.mit.edu	37	1	40537170	40537170	+	IGR	SNP	A	A	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:40537170A>C	ENST00000433473.3	-	0	2740				CAP1_ENST00000372802.1_Missense_Mutation_p.K464Q|PPT1_ENST00000372775.2_5'Flank|CAP1_ENST00000372797.3_Missense_Mutation_p.K465Q|CAP1_ENST00000372792.2_Missense_Mutation_p.K465Q|CAP1_ENST00000372798.1_Missense_Mutation_p.K464Q|CAP1_ENST00000372805.3_Missense_Mutation_p.K465Q|CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Missense_Mutation_p.K464Q	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-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;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GAACGGGCAGAAGTTGGTCAC	0.463																																						ENST00000372797.3																			0				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12						c.(1393-1395)Aag>Cag		CAP, adenylate cyclase-associated protein 1 (yeast)							74.0	66.0	69.0					1																	40537170		1903	4109	6012	SO:0001628	intergenic_variant	10487				activation of adenylate cyclase activity|axon guidance|establishment or maintenance of cell polarity|platelet activation|platelet degranulation|signal transduction	plasma membrane	actin binding	g.chr1:40537170A>C	U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40537170A>C						CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000372802.1_Missense_Mutation_p.K464Q|CAP1_ENST00000372792.2_Missense_Mutation_p.K465Q|CAP1_ENST00000372798.1_Missense_Mutation_p.K464Q|CAP1_ENST00000372805.3_Missense_Mutation_p.K465Q|CAP1_ENST00000340450.3_Missense_Mutation_p.K464Q	p.K465Q	NM_001105530.1|NM_006367.3	NP_001099000.1|NP_006358.1	Q01518	CAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;4.63e-18)|Epithelial(16;1.27e-16)|all cancers(16;2.3e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		13	1954	+	Lung NSC(20;5.03e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	465					B4DY24|Q6FGQ4	Missense_Mutation	SNP	ENST00000433473.3	37	c.1393A>C	CCDS447.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.066418	0.76187	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805	T;T;T;T;T;T	0.10860	2.84;2.83;2.84;2.83;2.83;2.84	5.45	5.45	0.79879	Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.31263	0.0791	M	0.75447	2.3	0.80722	D	1	D;D	0.67145	0.978;0.996	P;D	0.65573	0.83;0.936	T	0.01574	-1.1321	10	0.42905	T	0.14	-0.9703	14.8479	0.70272	1.0:0.0:0.0:0.0	.	412;465	E7ENY9;Q01518	.;CAP1_HUMAN	Q	465;464;465;442;464;464;465	ENSP00000361883:K465Q;ENSP00000361888:K464Q;ENSP00000361878:K465Q;ENSP00000361884:K464Q;ENSP00000344832:K464Q;ENSP00000361891:K465Q	ENSP00000344832:K464Q	K	+	1	0	CAP1	40309757	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.999000	0.93557	2.289000	0.77006	0.528000	0.53228	AAG		0.463	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000013126.2	NM_000310		14	38	0	0	0	1	0	14	38				
BAIAP2L1	55971	broad.mit.edu	37	7	97922852	97922852	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr7:97922852G>C	ENST00000005260.8	-	14	1732	c.1517C>G	c.(1516-1518)tCg>tGg	p.S506W		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	506	Binds F-actin.				filopodium assembly (GO:0046847)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|response to bacterium (GO:0009617)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GATGGGTGCCGAGCGATCATT	0.562																																						ENST00000005260.8																			0				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23						c.(1516-1518)tCg>tGg		BAI1-associated protein 2-like 1							129.0	126.0	127.0					7																	97922852		2203	4300	6503	SO:0001583	missense	55971				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding	g.chr7:97922852G>C	AF119666	CCDS34687.1	7q22.1	2012-10-04			ENSG00000006453	ENSG00000006453			21649	protein-coding gene	gene with protein product		611877					Standard	NM_018842		Approved	IRTKS	uc003upj.3	Q9UHR4	OTTHUMG00000165117	ENST00000005260.8:c.1517C>G	7.37:g.97922852G>C	ENSP00000005260:p.Ser506Trp						p.S506W	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		14	1732	-	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		506			Binds F-actin.		A4D268|Q75L21|Q75L22|Q96CV4|Q9H5F5|Q9Y2M8	Missense_Mutation	SNP	ENST00000005260.8	37	c.1517C>G	CCDS34687.1	.	.	.	.	.	.	.	.	.	.	G	17.41	3.383189	0.61845	.	.	ENSG00000006453	ENST00000005260	T	0.70045	-0.45	6.06	6.06	0.98353	.	0.054545	0.85682	D	0.000000	D	0.82857	0.5128	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.83291	-0.0033	10	0.87932	D	0	-14.5647	19.609	0.95594	0.0:0.0:1.0:0.0	.	506	Q9UHR4	BI2L1_HUMAN	W	506	ENSP00000005260:S506W	ENSP00000005260:S506W	S	-	2	0	AC093799.1	97760788	1.000000	0.71417	0.350000	0.25708	0.021000	0.10359	8.863000	0.92288	2.882000	0.98803	0.655000	0.94253	TCG		0.562	BAIAP2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334681.1	NM_018842		30	138	0	0	0	1	0	30	138				
COG8	84342	broad.mit.edu	37	16	69370549	69370549	+	Silent	SNP	C	C	T			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr16:69370549C>T	ENST00000306875.4	-	2	558	c.444G>A	c.(442-444)cgG>cgA	p.R148R	RP11-343C2.7_ENST00000564737.1_3'UTR|NIP7_ENST00000254940.5_5'Flank|NIP7_ENST00000569637.2_5'Flank|RP11-343C2.9_ENST00000563634.1_Silent_p.R23R|COG8_ENST00000562081.1_Silent_p.R148R|RP11-343C2.12_ENST00000562949.1_5'Flank	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN	component of oligomeric golgi complex 8	148					protein transport (GO:0015031)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						TTTCTGTGTGCCGGTTTAGGG	0.478																																						ENST00000306875.4																			0				breast(3)|kidney(1)|large_intestine(2)|ovary(2)|skin(1)	9						c.(442-444)cgG>cgA		component of oligomeric golgi complex 8							115.0	108.0	110.0					16																	69370549		2198	4300	6498	SO:0001819	synonymous_variant	84342				protein transport	Golgi membrane|Golgi transport complex		g.chr16:69370549C>T	AK025968	CCDS10876.1	16q22.1	2011-05-31			ENSG00000213380	ENSG00000213380		"""Components of oligomeric golgi complex"""	18623	protein-coding gene	gene with protein product		606979				11980916	Standard	NM_032382		Approved	FLJ22315, DOR1	uc002ewy.2	Q96MW5	OTTHUMG00000154277	ENST00000306875.4:c.444G>A	16.37:g.69370549C>T						RP11-343C2.7_ENST00000564737.1_3'UTR|RP11-343C2.9_ENST00000563634.1_Silent_p.R23R|COG8_ENST00000562081.1_Silent_p.R148R	p.R148R	NM_032382.4	NP_115758.3	Q96MW5	COG8_HUMAN			2	558	-			148					Q0VAK2|Q8WVV6|Q9H6F8	Silent	SNP	ENST00000306875.4	37	c.444G>A	CCDS10876.1																																																																																				0.478	COG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268948.2	NM_032382		4	114	0	0	0	1	0	4	114				
ZNF91	7644	broad.mit.edu	37	19	23543326	23543326	+	Missense_Mutation	SNP	T	T	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:23543326T>C	ENST00000300619.7	-	4	2660	c.2455A>G	c.(2455-2457)Att>Gtt	p.I819V	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank|ZNF91_ENST00000397082.2_Missense_Mutation_p.I787V	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	819					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)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CCAGTATGAATTGTCTTATGC	0.398																																						ENST00000300619.7																			0											c.(2455-2457)Att>Gtt		zinc finger protein 91							64.0	67.0	66.0					19																	23543326		2172	4282	6454	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23543326T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.2455A>G	19.37:g.23543326T>C	ENSP00000300619:p.Ile819Val					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.I787V	p.I819V	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	2660	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	819					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.2455A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	6.766	0.510305	0.12883	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.00986	5.47;5.47	1.53	1.53	0.23141	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.01387	0.0045	N	0.11364	0.135	0.19775	N	0.999952	P;D	0.69078	0.917;0.997	P;D	0.66716	0.73;0.946	T	0.58306	-0.7659	9	0.38643	T	0.18	.	5.6517	0.17620	0.0:0.0:0.2773:0.7227	.	787;819	Q05481-2;Q05481	.;ZNF91_HUMAN	V	819;787	ENSP00000300619:I819V;ENSP00000380272:I787V	ENSP00000300619:I819V	I	-	1	0	ZNF91	23335166	0.000000	0.05858	0.002000	0.10522	0.019000	0.09904	0.532000	0.23067	0.675000	0.31264	0.172000	0.16884	ATT		0.398	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		28	102	0	0	0	1	0	28	102				
TAS1R1	80835	broad.mit.edu	37	1	6635087	6635087	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:6635087G>A	ENST00000333172.6	+	3	1088	c.895G>A	c.(895-897)Gcc>Acc	p.A299T	TAS1R1_ENST00000328191.4_Missense_Mutation_p.A299T|TAS1R1_ENST00000351136.3_Intron	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	299					detection of chemical stimulus involved in sensory perception of taste (GO:0050912)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		GGTGTGGGTCGCCTCAGAAGC	0.647																																						ENST00000333172.6																			0				NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29						c.(895-897)Gcc>Acc		taste receptor, type 1, member 1							36.0	41.0	39.0					1																	6635087		2203	4300	6503	SO:0001583	missense	80835				sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:6635087G>A		CCDS81.1, CCDS82.1	1p36.23	2012-08-22	2003-03-24		ENSG00000173662	ENSG00000173662		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14448	protein-coding gene	gene with protein product		606225	"""G protein-coupled receptor 70"""	GPR70			Standard	NM_138697		Approved	T1R1, TR1	uc001ant.3	Q7RTX1	OTTHUMG00000001441	ENST00000333172.6:c.895G>A	1.37:g.6635087G>A	ENSP00000331867:p.Ala299Thr					TAS1R1_ENST00000351136.3_Intron|TAS1R1_ENST00000328191.4_Missense_Mutation_p.A299T	p.A299T	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)	3	1088	+	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	299					B2RMX0|Q5SY22|Q5SY24|Q8NGZ7|Q8TDJ7|Q8TDJ8|Q8TDJ9|Q8TDK0	Missense_Mutation	SNP	ENST00000333172.6	37	c.895G>A	CCDS81.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.251435	0.80135	.	.	ENSG00000173662	ENST00000333172;ENST00000328191	D;D	0.84730	-1.89;-1.89	5.4	5.4	0.78164	Extracellular ligand-binding receptor (1);	0.055304	0.64402	D	0.000001	D	0.93572	0.7948	M	0.88450	2.955	0.45415	D	0.998397	D;D	0.89917	1.0;1.0	D;D	0.74348	0.983;0.973	D	0.94563	0.7764	10	0.87932	D	0	.	18.1607	0.89707	0.0:0.0:1.0:0.0	.	299;299	Q7RTX1-3;Q7RTX1	.;TS1R1_HUMAN	T	299	ENSP00000331867:A299T;ENSP00000327705:A299T	ENSP00000327705:A299T	A	+	1	0	TAS1R1	6557674	1.000000	0.71417	0.892000	0.35008	0.237000	0.25408	7.639000	0.83342	2.497000	0.84241	0.655000	0.94253	GCC		0.647	TAS1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004211.1			15	45	0	0	0	1	0	15	45				
S100A10	6281	broad.mit.edu	37	1	151955683	151955683	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr1:151955683T>A	ENST00000368811.3	-	3	909	c.250A>T	c.(250-252)Aat>Tat	p.N84Y	S100A10_ENST00000368809.1_Missense_Mutation_p.N84Y|S100A10_ENST00000478574.1_5'Flank	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	S100 calcium binding protein A10	84					cellular response to acid chemical (GO:0071229)|establishment of protein localization to plasma membrane (GO:0090002)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|positive regulation of binding (GO:0051099)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein heterotetramerization (GO:0051290)	extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)	calcium ion binding (GO:0005509)|ion channel binding (GO:0044325)|protein homodimerization activity (GO:0042803)			breast(1)|kidney(1)|lung(2)|ovary(2)	6	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AAATAGTCATTGCATGCAATG	0.473																																						ENST00000368811.3																			0				breast(1)|kidney(1)|lung(2)|ovary(2)	6						c.(250-252)Aat>Tat		S100 calcium binding protein A10							178.0	184.0	182.0					1																	151955683		2203	4300	6503	SO:0001583	missense	6281				signal transduction		calcium ion binding|receptor binding	g.chr1:151955683T>A	BC015973	CCDS1008.1	1q21	2012-04-04	2006-09-11		ENSG00000197747	ENSG00000197747		"""S100 calcium binding proteins"""	10487	protein-coding gene	gene with protein product	"""annexin II tetramer (AIIt) p11 subunit"""	114085	"""S100 calcium-binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"", ""S100 calcium binding protein A10 (annexin II ligand, calpactin I, light polypeptide (p11))"""	ANX2LG, CAL1L		8276421	Standard	NM_002966		Approved	P11, 42C, CLP11	uc001ezl.3	P60903	OTTHUMG00000013068	ENST00000368811.3:c.250A>T	1.37:g.151955683T>A	ENSP00000357801:p.Asn84Tyr					S100A10_ENST00000368809.1_Missense_Mutation_p.N84Y	p.N84Y	NM_002966.2	NP_002957.1	P60903	S10AA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	909	-	Melanoma(130;0.0648)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		84					A8K4V8|P08206|Q5T1C5	Missense_Mutation	SNP	ENST00000368811.3	37	c.250A>T	CCDS1008.1	.	.	.	.	.	.	.	.	.	.	T	22.9	4.347903	0.82022	.	.	ENSG00000197747	ENST00000368811;ENST00000368809	T;T	0.06528	3.29;3.29	5.65	5.65	0.86999	EF-hand-like domain (1);	0.043555	0.85682	D	0.000000	T	0.09379	0.0231	.	.	.	0.42141	D	0.991514	D	0.56746	0.977	P	0.52598	0.703	T	0.00945	-1.1505	9	0.87932	D	0	.	13.8738	0.63638	0.0:0.0:0.0:1.0	.	84	P60903	S10AA_HUMAN	Y	84	ENSP00000357801:N84Y;ENSP00000357799:N84Y	ENSP00000357799:N84Y	N	-	1	0	S100A10	150222307	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.998000	0.49465	2.371000	0.80710	0.533000	0.62120	AAT		0.473	S100A10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036673.1	NM_002966		49	167	0	0	0	1	0	49	167				
ABCC12	94160	broad.mit.edu	37	16	48139103	48139103	+	Missense_Mutation	SNP	T	T	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr16:48139103T>A	ENST00000311303.3	-	19	2965	c.2620A>T	c.(2620-2622)Acc>Tcc	p.T874S	ABCC12_ENST00000448542.1_Missense_Mutation_p.T871S|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	874	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GTGGTCTTGGTGAAGACGAAG	0.527																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(2620-2622)Acc>Tcc		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							254.0	181.0	206.0					16																	48139103		2201	4300	6501	SO:0001583	missense	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48139103T>A	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2620A>T	16.37:g.48139103T>A	ENSP00000311030:p.Thr874Ser					ABCC12_ENST00000448542.1_Missense_Mutation_p.T871S|ABCC12_ENST00000416054.1_3'UTR	p.T874S	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			19	2965	-		all_cancers(37;0.0474)|all_lung(18;0.047)	874			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Missense_Mutation	SNP	ENST00000311303.3	37	c.2620A>T	CCDS10730.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.346042	0.41599	.	.	ENSG00000140798	ENST00000311303;ENST00000448542;ENST00000449939	D;T	0.90197	-2.63;0.87	5.21	4.1	0.47936	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.000000	0.85682	D	0.000000	D	0.86188	0.5873	L	0.41356	1.27	0.80722	D	1	B	0.29188	0.236	B	0.33960	0.173	T	0.81172	-0.1054	10	0.39692	T	0.17	.	10.1617	0.42855	0.0:0.0:0.1675:0.8325	.	874	Q96J65	MRP9_HUMAN	S	874;871;792	ENSP00000311030:T874S;ENSP00000401855:T871S	ENSP00000311030:T874S	T	-	1	0	ABCC12	46696604	1.000000	0.71417	0.920000	0.36463	0.091000	0.18340	5.944000	0.70219	0.783000	0.33636	0.533000	0.62120	ACC		0.527	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		33	129	0	0	0	1	0	33	129				
MTUS2	23281	broad.mit.edu	37	13	29599100	29599100	+	Nonsense_Mutation	SNP	C	C	T	rs369877813		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr13:29599100C>T	ENST00000431530.3	+	1	353	c.295C>T	c.(295-297)Cag>Tag	p.Q99*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	89						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAAAGGCTCTCAGGCTGGCTC	0.463																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(295-297)Cag>Tag		microtubule associated tumor suppressor candidate 2							30.0	29.0	29.0					13																	29599100		1802	4069	5871	SO:0001587	stop_gained	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29599100C>T	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.295C>T	13.37:g.29599100C>T	ENSP00000392057:p.Gln99*						p.Q99*	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	353	+			89					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Nonsense_Mutation	SNP	ENST00000431530.3	37	c.295C>T	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	c	23.7	4.448076	0.84101	.	.	ENSG00000132938	ENST00000431530	.	.	.	5.37	5.37	0.77165	.	0.277139	0.25872	N	0.027746	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0886	0.89466	0.0:1.0:0.0:0.0	.	.	.	.	X	99	.	.	Q	+	1	0	MTUS2	28497100	0.989000	0.36119	0.245000	0.24217	0.010000	0.07245	5.075000	0.64407	2.509000	0.84616	0.563000	0.77884	CAG		0.463	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		7	25	0	0	0	1	0	7	25				
RFX3	5991	broad.mit.edu	37	9	3225217	3225217	+	Missense_Mutation	SNP	G	G	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr9:3225217G>C	ENST00000382004.3	-	18	2386	c.2075C>G	c.(2074-2076)gCc>gGc	p.A692G		NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	692					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CTCTCTTTTGGCTTGAGGCTC	0.468																																						ENST00000382004.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(2074-2076)gCc>gGc		regulatory factor X, 3 (influences HLA class II expression)							93.0	91.0	91.0					9																	3225217		2203	4300	6503	SO:0001583	missense	5991				cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding	g.chr9:3225217G>C	AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.2075C>G	9.37:g.3225217G>C	ENSP00000371434:p.Ala692Gly						p.A692G	NM_134428.1	NP_602304.1	P48380	RFX3_HUMAN		GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)	18	2386	-			692					A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Missense_Mutation	SNP	ENST00000382004.3	37	c.2075C>G	CCDS6449.1	.	.	.	.	.	.	.	.	.	.	G	17.08	3.296891	0.60086	.	.	ENSG00000080298	ENST00000382004	T	0.60424	0.19	5.7	5.7	0.88788	.	0.102343	0.64402	D	0.000002	T	0.60919	0.2306	L	0.54323	1.7	0.80722	D	1	D	0.53151	0.958	P	0.45276	0.475	T	0.64980	-0.6279	10	0.62326	D	0.03	-11.6716	19.8344	0.96650	0.0:0.0:1.0:0.0	.	692	P48380	RFX3_HUMAN	G	692	ENSP00000371434:A692G	ENSP00000371434:A692G	A	-	2	0	RFX3	3215217	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.138000	0.89613	2.686000	0.91538	0.643000	0.83706	GCC		0.468	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051545.1	NM_002919		80	40	0	0	0	1	0	80	40				
GOLPH3	64083	broad.mit.edu	37	5	32126603	32126603	+	Silent	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr5:32126603G>A	ENST00000265070.6	-	4	927	c.612C>T	c.(610-612)ctC>ctT	p.L204L	GOLPH3_ENST00000512668.1_5'Flank	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	204					cell adhesion molecule production (GO:0060352)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|gene expression (GO:0010467)|glycoprotein biosynthetic process (GO:0009101)|Golgi organization (GO:0007030)|Golgi to plasma membrane protein transport (GO:0043001)|Golgi vesicle budding (GO:0048194)|lamellipodium assembly (GO:0030032)|leukocyte tethering or rolling (GO:0050901)|positive regulation of protein secretion (GO:0050714)|positive regulation of TOR signaling (GO:0032008)|protein retention in Golgi apparatus (GO:0045053)|protein secretion (GO:0009306)|regulation of mitochondrion organization (GO:0010821)	cytosol (GO:0005829)|endosome (GO:0005768)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|phosphatidylinositol-4-phosphate binding (GO:0070273)			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						TGTTATTGGTGAGGGGATGTG	0.458																																						ENST00000265070.6																			0				kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						c.(610-612)ctC>ctT		golgi phosphoprotein 3 (coat-protein)							227.0	214.0	219.0					5																	32126603		2203	4300	6503	SO:0001819	synonymous_variant	64083				cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	g.chr5:32126603G>A	AK075156	CCDS3896.1	5p13.2	2008-07-18			ENSG00000113384	ENSG00000113384			15452	protein-coding gene	gene with protein product	"""golgi peripheral membrane protein 1, 34 kDa"", ""golgi protein"", ""coat-protein"", ""golgi-associated protein"""	612207				11042173, 16263763	Standard	NM_022130		Approved	GPP34, GOPP1, MIDAS	uc003jhp.1	Q9H4A6	OTTHUMG00000090679	ENST00000265070.6:c.612C>T	5.37:g.32126603G>A							p.L204L	NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN			4	927	-			204					Q9UIW5	Silent	SNP	ENST00000265070.6	37	c.612C>T	CCDS3896.1																																																																																				0.458	GOLPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207363.2	NM_022130		46	171	0	0	0	1	0	46	171				
PPFIA3	8541	broad.mit.edu	37	19	49631663	49631663	+	Missense_Mutation	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:49631663G>A	ENST00000334186.4	+	3	629	c.280G>A	c.(280-282)Gag>Aag	p.E94K	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E94K	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	94					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTTATGTCGGGAGCAGCTGCT	0.582																																						ENST00000334186.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35						c.(280-282)Gag>Aag		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3							85.0	79.0	81.0					19																	49631663		2203	4300	6503	SO:0001583	missense	8541					cell surface|cytoplasm	protein binding	g.chr19:49631663G>A	AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.280G>A	19.37:g.49631663G>A	ENSP00000335614:p.Glu94Lys					PPFIA3_ENST00000602351.1_Missense_Mutation_p.E94K	p.E94K	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)	3	629	+		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	94					A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	ENST00000334186.4	37	c.280G>A	CCDS12758.1	.	.	.	.	.	.	.	.	.	.	G	36	5.852830	0.97030	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.50001	0.76	4.17	4.17	0.49024	.	0.000000	0.44902	U	0.000417	T	0.70710	0.3255	M	0.82517	2.595	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.997	T	0.76903	-0.2787	10	0.87932	D	0	-19.6826	15.7919	0.78372	0.0:0.0:1.0:0.0	.	18;94	B4DEU8;O75145	.;LIPA3_HUMAN	K	94;18	ENSP00000335614:E94K	ENSP00000335614:E94K	E	+	1	0	PPFIA3	54323475	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.582000	0.98214	2.343000	0.79666	0.467000	0.42956	GAG		0.582	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465688.1	NM_003660		15	82	0	0	0	1	0	15	82				
MRAP	56246	broad.mit.edu	37	21	33671366	33671366	+	Silent	SNP	G	G	A			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr21:33671366G>A	ENST00000399784.2	+	3	271	c.84G>A	c.(82-84)gaG>gaA	p.E28E	MRAP_ENST00000339944.4_Silent_p.E28E|MRAP_ENST00000399786.3_Silent_p.E28E|MRAP_ENST00000497833.1_Intron|MRAP_ENST00000303645.5_Silent_p.E28E	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	28					brown fat cell differentiation (GO:0050873)|positive regulation of cAMP biosynthetic process (GO:0030819)|protein localization to cell surface (GO:0034394)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	corticotropin hormone receptor binding (GO:0031780)|type 1 melanocortin receptor binding (GO:0070996)|type 3 melanocortin receptor binding (GO:0031781)|type 4 melanocortin receptor binding (GO:0031782)|type 5 melanocortin receptor binding (GO:0031783)			endometrium(1)|large_intestine(2)|lung(3)	6						CCGTGGACGAGAAGAAGCTGA	0.577																																						ENST00000399784.2																			0				endometrium(1)|large_intestine(2)|lung(3)	6						c.(82-84)gaG>gaA		melanocortin 2 receptor accessory protein							100.0	75.0	83.0					21																	33671366		2203	4300	6503	SO:0001819	synonymous_variant	56246				positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding	g.chr21:33671366G>A	AF454915	CCDS13612.1, CCDS13613.1	21q22.1	2005-10-30	2005-02-01	2005-02-07	ENSG00000170262	ENSG00000170262			1304	protein-coding gene	gene with protein product		609196	"""chromosome 21 open reading frame 61"""	C21orf61		12036298, 15654338	Standard	NM_178817		Approved	B27, FALP	uc002ypj.3	Q8TCY5	OTTHUMG00000085309	ENST00000399784.2:c.84G>A	21.37:g.33671366G>A						MRAP_ENST00000399786.3_Silent_p.E28E|MRAP_ENST00000497833.1_Intron|MRAP_ENST00000303645.5_Silent_p.E28E|MRAP_ENST00000339944.4_Silent_p.E28E	p.E28E	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN			3	271	+			28					Q5EBR3|Q8TDB7|Q8WXC1|Q8WXC2	Silent	SNP	ENST00000399784.2	37	c.84G>A	CCDS13613.1																																																																																				0.577	MRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000193092.1	NM_178817		5	38	0	0	0	1	0	5	38				
RFPL3	10738	broad.mit.edu	37	22	32754256	32754256	+	Silent	SNP	G	G	A	rs61729170	byFrequency	TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr22:32754256G>A	ENST00000249007.4	+	1	403	c.198G>A	c.(196-198)tcG>tcA	p.S66S	RFPL3_ENST00000382088.3_Silent_p.S37S|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000397468.1_Silent_p.S37S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	66							zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCATCAATTCGCTGCAGAAGG	0.537																																						ENST00000249007.4																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						c.(196-198)tcG>tcA		ret finger protein-like 3							121.0	114.0	117.0					22																	32754256		2203	4300	6503	SO:0001819	synonymous_variant	10738						zinc ion binding	g.chr22:32754256G>A	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.198G>A	22.37:g.32754256G>A						RFPL3_ENST00000397468.1_Silent_p.S37S|RFPL3_ENST00000382088.3_Silent_p.S37S	p.S66S	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN			1	403	+			66					A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Silent	SNP	ENST00000249007.4	37	c.198G>A	CCDS43011.1																																																																																				0.537	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		4	134	0	0	0	1	0	4	134				
ITSN2	50618	broad.mit.edu	37	2	24469021	24469023	+	In_Frame_Del	DEL	GTC	GTC	-			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:24469021_24469023delGTC	ENST00000355123.4	-	29	3995_3997	c.3552_3554delGAC	c.(3550-3555)acgaca>aca	p.1184_1185TT>T	ITSN2_ENST00000361999.3_In_Frame_Del_p.1157_1158TT>T|ITSN2_ENST00000406921.3_In_Frame_Del_p.1184_1185TT>T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1184	SH3 5. {ECO:0000255|PROSITE- ProRule:PRU00192}.				endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATCTGAGTCTGTCGTCATCTTAA	0.384																																						ENST00000355123.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61						c.(3550-3555)aca>ac		intersectin 2																																				SO:0001651	inframe_deletion	50618				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr2:24469021_24469023delGTC	AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3552_3554delGAC	2.37:g.24469024_24469026delGTC	ENSP00000347244:p.Thr1185del					ITSN2_ENST00000406921.3_In_Frame_Del_p.TT1184del|ITSN2_ENST00000361999.3_In_Frame_Del_p.TT1157del	p.TT1184del	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN			29	3995_3997	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1184			SH3 5.		O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	In_Frame_Del	DEL	ENST00000355123.4	37	c.3552_3554delGAC	CCDS1710.2																																																																																				0.384	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207620.2	NM_006277		37	138						37	138	---	---	---	---
IGKV1D-8	28904	broad.mit.edu	37	2	90259860	90259861	+	RNA	INS	-	-	C			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr2:90259860_90259861insC	ENST00000471857.1	+	0	236									immunoglobulin kappa variable 1D-8																		AATTTACTCAGCCAATGTGCTC	0.48																																						ENST00000471857.1																			0																																																			28904							g.chr2:90259860_90259861insC	Z00008		2p11.2	2012-02-08			ENSG00000239819	ENSG00000239819		"""Immunoglobulins / IGK locus"""	5759	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151570		2.37:g.90259862_90259862dupC														0	236	+									RNA	INS	ENST00000471857.1	37																																																																																						0.480	IGKV1D-8-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323145.2	NG_000833		7	251						7	251	---	---	---	---
C11orf70	85016	broad.mit.edu	37	11	101937227	101937227	+	Frame_Shift_Del	DEL	A	A	-			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr11:101937227delA	ENST00000434758.2	+	4	308	c.280delA	c.(280-282)aaafs	p.K95fs	C11orf70_ENST00000534360.1_Intron|C11orf70_ENST00000526781.1_Frame_Shift_Del_p.K95fs	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	95										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AACTGAAGTGAAAAAAATTGA	0.284																																						ENST00000434758.2																			0				breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12						c.(280-282)aafs		chromosome 11 open reading frame 70							67.0	64.0	65.0					11																	101937227		2200	4295	6495	SO:0001589	frameshift_variant	85016							g.chr11:101937227delA	AK094851	CCDS8313.1, CCDS8313.2, CCDS53698.1	11q22.1	2012-05-31			ENSG00000137691	ENSG00000137691			28188	protein-coding gene	gene with protein product							Standard	NM_032930		Approved	MGC13040	uc001pgp.3	Q9BRQ4	OTTHUMG00000167320	ENST00000434758.2:c.280delA	11.37:g.101937227delA	ENSP00000414390:p.Lys95fs					C11orf70_ENST00000526781.1_Frame_Shift_Del_p.K95fs|C11orf70_ENST00000534360.1_Intron	p.K95fs	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)	4	308	+	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	95					E9PJU1	Frame_Shift_Del	DEL	ENST00000434758.2	37	c.280delA	CCDS8313.2																																																																																				0.284	C11orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394144.1	NM_032930		7	1431						7	1431	---	---	---	---
TAF1C	9013	broad.mit.edu	37	16	84212717	84212717	+	Frame_Shift_Del	DEL	T	T	-	rs373132574		TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr16:84212717delT	ENST00000567759.1	-	14	2622	c.2440delA	c.(2440-2442)atgfs	p.M814fs	TAF1C_ENST00000341690.6_Frame_Shift_Del_p.M720fs|TAF1C_ENST00000570117.1_Frame_Shift_Del_p.M482fs|TAF1C_ENST00000566732.1_Frame_Shift_Del_p.M788fs|TAF1C_ENST00000378541.4_Frame_Shift_Del_p.M814fs|TAF1C_ENST00000541676.1_Frame_Shift_Del_p.M721fs	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	814					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						TCACGGAGCATCTGCCGCTGC	0.692																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(2440-2442)tgfs		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							53.0	46.0	48.0					16																	84212717		2200	4299	6499	SO:0001589	frameshift_variant	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84212717delT	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.2440delA	16.37:g.84212717delT	ENSP00000455265:p.Met814fs					TAF1C_ENST00000341690.6_Frame_Shift_Del_p.M720fs|TAF1C_ENST00000541676.1_Frame_Shift_Del_p.M721fs|TAF1C_ENST00000566732.1_Frame_Shift_Del_p.M788fs|TAF1C_ENST00000570117.1_Frame_Shift_Del_p.M482fs|TAF1C_ENST00000378541.4_Frame_Shift_Del_p.M814fs	p.M814fs	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			14	2622	-			814					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Frame_Shift_Del	DEL	ENST00000567759.1	37	c.2440delA	CCDS32496.1																																																																																				0.692	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		11	26						11	26	---	---	---	---
RPL36	25873	broad.mit.edu	37	19	5692088	5692089	+	IGR	INS	-	-	AA			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:5692088_5692089insAA	ENST00000577222.1	+	0	874				LONP1_ENST00000593119.1_Frame_Shift_Ins_p.I881fs|LONP1_ENST00000590729.1_Frame_Shift_Ins_p.I815fs|LONP1_ENST00000540670.2_Frame_Shift_Ins_p.I749fs|LONP1_ENST00000360614.3_Frame_Shift_Ins_p.I945fs|LONP1_ENST00000585374.1_Frame_Shift_Ins_p.I831fs			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						CCGGGAAGGCGATGTCGAAGAT	0.649																																						ENST00000360614.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(2833-2835)agcfs		lon peptidase 1, mitochondrial																																				SO:0001628	intergenic_variant	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5692088_5692089insAA		CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5692088_5692089insAA						LONP1_ENST00000593119.1_Frame_Shift_Ins_p.S881fs|LONP1_ENST00000585374.1_Frame_Shift_Ins_p.S831fs|LONP1_ENST00000590729.1_Frame_Shift_Ins_p.S815fs|LONP1_ENST00000540670.2_Frame_Shift_Ins_p.S749fs	p.S945fs	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN			18	2991_2992	-			945					B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Frame_Shift_Ins	INS	ENST00000577222.1	37	c.2834_2835insTT	CCDS12147.1																																																																																				0.649	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442561.1	NM_015414		29	149						29	149	---	---	---	---
C19orf43	79002	broad.mit.edu	37	19	12845461	12845461	+	Frame_Shift_Del	DEL	C	C	-			TCGA-UF-A7JV-01A-11D-A34J-08	TCGA-UF-A7JV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c824fe0-b5bb-4b9b-8104-2917473db2d5	058b3a27-6dcc-4456-9bcf-8bf795340434	g.chr19:12845461delC	ENST00000242784.4	-	1	128	c.11delG	c.(10-12)cgafs	p.R4fs	ASNA1_ENST00000357332.3_5'Flank|ASNA1_ENST00000591090.1_5'Flank|C19orf43_ENST00000588213.1_Frame_Shift_Del_p.R4fs|C19orf43_ENST00000592273.1_Frame_Shift_Del_p.R4fs	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	4										endometrium(2)|large_intestine(2)	4						CCGTCTCCCTCGGGCAGCCAT	0.751																																						ENST00000242784.4																			0				endometrium(2)|large_intestine(2)	4						c.(10-12)cafs		chromosome 19 open reading frame 43							2.0	2.0	2.0					19																	12845461		1313	2886	4199	SO:0001589	frameshift_variant	79002							g.chr19:12845461delC	AK027588	CCDS12279.1	19p13.2	2011-11-24			ENSG00000123144	ENSG00000123144			28424	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 18"""					12477932	Standard	NM_024038		Approved	MGC2803, fSAP18	uc002muu.3	Q9BQ61		ENST00000242784.4:c.11delG	19.37:g.12845461delC	ENSP00000242784:p.Arg4fs					C19orf43_ENST00000588213.1_Frame_Shift_Del_p.R4fs|C19orf43_ENST00000592273.1_Frame_Shift_Del_p.R4fs	p.R4fs	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN			1	128	-			4						Frame_Shift_Del	DEL	ENST00000242784.4	37	c.11delG	CCDS12279.1																																																																																				0.751	C19orf43-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450856.1	NM_024038		2	4						2	4	---	---	---	---
