#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
NOL9	79707	broad.mit.edu	37	1	6589196	6589196	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:6589196G>T	ENST00000377705.5	-	10	1715	c.1683C>A	c.(1681-1683)caC>caA	p.H561Q		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	561					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CGACATCAGAGTGGGTAATCC	0.463																																						uc001ans.3																			0		p.T560I(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19						c.(1681-1683)caC>caA		Homo sapiens nucleolar protein 9 (NOL9), mRNA.							103.0	89.0	94.0					1																	6589196		2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6589196G>T	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1683C>A	1.37:g.6589196G>T	ENSP00000366934:p.His561Gln					NOL9_uc010nzs.2_Non-coding_Transcript	p.H561Q	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	9	1779	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	561					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.1683C>A	CCDS80.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.757212	0.49468	.	.	ENSG00000162408	ENST00000377705	T	0.40476	1.03	5.66	-1.84	0.07809	Pre-mRNA cleavage complex II Clp1 (1);	0.000000	0.85682	D	0.000000	T	0.60143	0.2246	M	0.85542	2.76	0.23616	N	0.997288	D	0.89917	1.0	D	0.91635	0.999	T	0.55231	-0.8173	10	0.28530	T	0.3	-35.6565	10.732	0.46102	0.6072:0.0:0.3928:0.0	.	561	Q5SY16	NOL9_HUMAN	Q	561	ENSP00000366934:H561Q	ENSP00000366934:H561Q	H	-	3	2	NOL9	6511783	0.002000	0.14202	0.000000	0.03702	0.617000	0.37484	-0.419000	0.07071	-0.385000	0.07833	0.561000	0.74099	CAC		0.463	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654	
MACF1	23499	broad.mit.edu	37	1	39800817	39800817	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:39800817C>T	ENST00000372915.3	+	36	8659	c.8572C>T	c.(8572-8574)Cgt>Tgt	p.R2858C	MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Missense_Mutation_p.R2853C|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.R2890C|MACF1_ENST00000289893.4_Missense_Mutation_p.R1293C|MACF1_ENST00000476350.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	2858					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	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)			CAAGGATCAACGTAAGCCAAG	0.398																																						uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(3877-3879)Cgt>Tgt		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							61.0	65.0	64.0					1																	39800817		2199	4298	6497	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39800817C>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.8572C>T	1.37:g.39800817C>T	ENSP00000362006:p.Arg2858Cys					MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	p.R1293C	NM_012090	NP_036222	Q9UPN3	MACF1_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)		0	3877	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	2858					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.3877C>T		.	.	.	.	.	.	.	.	.	.	C	8.002	0.755537	0.15846	.	.	ENSG00000127603	ENST00000372915;ENST00000289893	T;T	0.61859	0.07;1.17	5.64	2.73	0.32206	.	1.396130	0.04664	N	0.409468	T	0.42449	0.1203	N	0.08118	0	0.09310	N	1	P	0.34934	0.476	B	0.39068	0.289	T	0.44997	-0.9291	10	0.87932	D	0	.	6.2907	0.21059	0.1715:0.1585:0.6701:0.0	.	2858	Q9UPN3	MACF1_HUMAN	C	2858;1293	ENSP00000362006:R2858C;ENSP00000289893:R1293C	ENSP00000289893:R1293C	R	+	1	0	MACF1	39573404	0.000000	0.05858	0.001000	0.08648	0.040000	0.13550	0.115000	0.15540	0.748000	0.32831	-0.340000	0.08031	CGT		0.398	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
HYI	81888	broad.mit.edu	37	1	43917642	43917642	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:43917642T>C	ENST00000372425.4	-	4	664	c.469A>G	c.(469-471)Act>Gct	p.T157A	SZT2_ENST00000372442.1_3'UTR|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000486909.1_Missense_Mutation_p.T157A|HYI-AS1_ENST00000444386.1_RNA|HYI_ENST00000583037.1_Missense_Mutation_p.T84A|HYI_ENST00000372434.1_Missense_Mutation_p.T182A|HYI_ENST00000372426.1_Missense_Mutation_p.T109A|HYI_ENST00000372432.1_Missense_Mutation_p.T157A			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	157							hydroxypyruvate isomerase activity (GO:0008903)			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGGGTCAGTGATGCGGGTG	0.587																																						uc001cjo.3																			0		p.F157F(2)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6						c.(469-471)Act>Gct		Homo sapiens hydroxypyruvate isomerase (putative) (HYI), transcript variant 3, mRNA.							105.0	110.0	108.0					1																	43917642		2203	4300	6503	SO:0001583	missense	81888						hydroxypyruvate isomerase activity	g.chr1:43917642T>C		CCDS488.1, CCDS488.2, CCDS53309.1, CCDS72771.1	1p34.2	2010-06-24	2010-06-24		ENSG00000178922	ENSG00000178922	5.3.1.22		26948	protein-coding gene	gene with protein product			"""hydroxypyruvate isomerase homolog (E. coli)"""			10561547	Standard	NM_031207		Approved	HT036	uc001cjo.3	Q5T013	OTTHUMG00000007502	ENST00000372425.4:c.469A>G	1.37:g.43917642T>C	ENSP00000361502:p.Thr157Ala					SZT2_uc001cjk.2_3'UTR|SZT2_uc001cjl.2_3'UTR|HYI_uc021omp.1_Missense_Mutation_p.T84A|HYI_uc001cjm.3_Missense_Mutation_p.T84A|HYI_uc021omq.1_Missense_Mutation_p.T182A|HYI_uc001cjn.3_Missense_Mutation_p.T157A	p.T157A	NM_001190880	NP_001177809	Q5T013	HYI_HUMAN			3	665	-	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	157					D3DPX4|D3DPX5|Q5Q9A2|Q7Z778|Q96S83|Q9BZR3|Q9BZR4	Missense_Mutation	SNP	ENST00000372425.4	37	c.469A>G	CCDS53309.1	.	.	.	.	.	.	.	.	.	.	T	16.76	3.212148	0.58452	.	.	ENSG00000178922	ENST00000372425;ENST00000372433;ENST00000372434;ENST00000372430;ENST00000372432;ENST00000372427;ENST00000372426;ENST00000486909	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.38	4.25	0.50352	Xylose isomerase-like, TIM barrel domain (2);Xylose isomerase, TIM barrel domain (1);	0.097408	0.64402	D	0.000001	T	0.34454	0.0898	L	0.38531	1.155	0.46586	D	0.999116	B	0.21753	0.06	B	0.23716	0.048	T	0.15896	-1.0421	10	0.72032	D	0.01	.	11.3711	0.49699	0.0:0.0715:0.0:0.9285	.	157	Q5T013	HYI_HUMAN	A	157;75;109;84;157;90;109;157	ENSP00000361502:T157A;ENSP00000361509:T157A;ENSP00000361503:T109A;ENSP00000428399:T157A	ENSP00000361502:T157A	T	-	1	0	HYI	43690229	1.000000	0.71417	0.515000	0.27774	0.981000	0.71138	7.663000	0.83820	0.997000	0.38969	0.379000	0.24179	ACT		0.587	HYI-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_031207	
FCRL2	79368	broad.mit.edu	37	1	157740305	157740305	+	Silent	SNP	A	A	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:157740305A>T	ENST00000361516.3	-	3	252	c.204T>A	c.(202-204)ctT>ctA	p.L68L	FCRL2_ENST00000368181.4_Silent_p.L68L|FCRL2_ENST00000392274.3_Silent_p.L68L|FCRL2_ENST00000469986.1_5'Flank	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	68	Ig-like C2-type 1.				cell-cell signaling (GO:0007267)|positive regulation of signal transduction (GO:0009967)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTTTGGATAAGGAAATCTG	0.338																																						uc001fre.2																			0				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51						c.(202-204)ctT>ctA		Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.							80.0	87.0	85.0					1																	157740305		2203	4300	6503	SO:0001819	synonymous_variant	79368				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity	g.chr1:157740305A>T	AF319438	CCDS1168.1	1q23.1	2013-01-14	2002-01-14	2005-03-23	ENSG00000132704	ENSG00000132704		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14875	protein-coding gene	gene with protein product		606509	"""SH2 domain-containing phosphatase anchor protein 1"""	SPAP1		11162587	Standard	NM_030764		Approved	FCRH2, IRTA4, CD307b	uc001fre.2	Q96LA5	OTTHUMG00000019399	ENST00000361516.3:c.204T>A	1.37:g.157740305A>T						FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.L68L|FCRL2_uc009wsp.2_Silent_p.L68L|FCRL2_uc010pia.1_Silent_p.L68L	p.L68L	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		2	263	-	all_hematologic(112;0.0378)		68			Ig-like C2-type 1.		A0N0M5|A1L307|A6NMS0|Q6NTA1|Q9BZI4|Q9BZI5|Q9BZI6	Silent	SNP	ENST00000361516.3	37	c.204T>A	CCDS1168.1																																																																																				0.338	FCRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051408.2	NM_030764	
ZBTB37	84614	broad.mit.edu	37	1	173840057	173840057	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:173840057C>T	ENST00000367701.5	+	2	885	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	ZBTB37_ENST00000367702.1_Missense_Mutation_p.R232W|ZBTB37_ENST00000432989.1_Missense_Mutation_p.R232W|ZBTB37_ENST00000427304.1_Missense_Mutation_p.R232W|ZBTB37_ENST00000367704.1_Missense_Mutation_p.R232W			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	232					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(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						CCGTGGGGGTCGGAGTGATGA	0.522																																						uc009wwp.1																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						c.(694-696)Cgg>Tgg		Homo sapiens zinc finger and BTB domain containing 37 (ZBTB37), transcript variant 1, mRNA.							74.0	77.0	76.0					1																	173840057		2203	4300	6503	SO:0001583	missense	84614				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:173840057C>T	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.694C>T	1.37:g.173840057C>T	ENSP00000356674:p.Arg232Trp					GAS5_uc001gjj.3_5'Flank|GAS5_uc001gjk.3_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.R232W|ZBTB37_uc001gjq.4_Missense_Mutation_p.R232W|ZBTB37_uc001gjr.2_Missense_Mutation_p.R232W	p.R232W	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN			2	970	+			232					Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	c.694C>T	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067397	0.76301	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367703;ENST00000367701	T;T;T;T;T	0.76578	-1.0;2.6;-1.03;-1.03;2.6	5.9	4.96	0.65561	.	0.160350	0.56097	D	0.000028	T	0.63058	0.2479	N	0.24115	0.695	0.48830	D	0.999717	D;D	0.62365	0.975;0.991	B;P	0.46975	0.232;0.533	T	0.71217	-0.4658	10	0.72032	D	0.01	.	16.859	0.86013	0.0:0.8716:0.1284:0.0	.	232;232	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	W	232;232;232;232;140;232	ENSP00000356677:R232W;ENSP00000415293:R232W;ENSP00000409408:R232W;ENSP00000356675:R232W;ENSP00000356674:R232W	ENSP00000356674:R232W	R	+	1	2	ZBTB37	172106680	0.892000	0.30473	0.749000	0.31150	0.993000	0.82548	1.804000	0.38873	1.438000	0.47492	0.563000	0.77884	CGG		0.522	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522	
HMCN1	83872	broad.mit.edu	37	1	186099745	186099745	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:186099745G>A	ENST00000271588.4	+	85	13375	c.13146G>A	c.(13144-13146)caG>caA	p.Q4382Q	HMCN1_ENST00000367492.2_Silent_p.Q4382Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4382	Ig-like C2-type 43.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAACCATCCAGTGGAACAGAA	0.488																																						uc001grq.1																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(13144-13146)caG>caA		Homo sapiens hemicentin 1 (HMCN1), mRNA.							108.0	106.0	107.0					1																	186099745		2203	4300	6503	SO:0001819	synonymous_variant	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186099745G>A	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.13146G>A	1.37:g.186099745G>A						MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	p.Q4382Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN			84	13375	+			4382			Ig-like C2-type 43.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	SNP	ENST00000271588.4	37	c.13146G>A	CCDS30956.1																																																																																				0.488	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
ASPM	259266	broad.mit.edu	37	1	197062332	197062332	+	Silent	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:197062332G>C	ENST00000367409.4	-	21	9400	c.9144C>G	c.(9142-9144)gtC>gtG	p.V3048V	ASPM_ENST00000294732.7_Silent_p.V1463V|ASPM_ENST00000367408.1_Silent_p.V713V	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3048	IQ 36. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCCGAAGAAAGACCTGCCTTC	0.348																																						uc001gtu.3																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(9142-9144)gtC>gtG		Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.							76.0	83.0	81.0					1																	197062332		2202	4299	6501	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197062332G>C	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.9144C>G	1.37:g.197062332G>C						ASPM_uc001gtv.3_Silent_p.V1463V|ASPM_uc001gtw.4_Silent_p.V896V	p.V3048V	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN			20	9401	-			3048			IQ 36.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.9144C>G	CCDS1389.1																																																																																				0.348	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
USH2A	7399	broad.mit.edu	37	1	216465647	216465647	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:216465647G>C	ENST00000307340.3	-	10	2096	c.1710C>G	c.(1708-1710)ttC>ttG	p.F570L	USH2A_ENST00000366943.2_Missense_Mutation_p.F570L|USH2A_ENST00000366942.3_Missense_Mutation_p.F570L	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	570	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTTTACAATTGAAAGCGTAAA	0.413										HNSCC(13;0.011)																												uc001hku.1																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(1708-1710)ttC>ttG		Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.							109.0	101.0	104.0					1																	216465647		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216465647G>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.1710C>G	1.37:g.216465647G>C	ENSP00000305941:p.Phe570Leu	HNSCC(13;0.011)				USH2A_uc001hkv.3_Missense_Mutation_p.F570L	p.F570L	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	9	2097	-			570			Laminin EGF-like 1.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.1710C>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	12.62	1.991707	0.35131	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.62232	0.04;0.04;0.04	4.81	1.16	0.20824	EGF-like, laminin (2);	0.171047	0.27851	U	0.017596	T	0.55561	0.1928	M	0.72894	2.215	0.33315	D	0.566536	B;D	0.56521	0.01;0.976	B;P	0.46659	0.012;0.523	T	0.61778	-0.6993	10	0.33141	T	0.24	.	2.1056	0.03690	0.4383:0.0:0.3184:0.2433	.	570;570	O75445-2;O75445	.;USH2A_HUMAN	L	570	ENSP00000305941:F570L;ENSP00000355910:F570L;ENSP00000355909:F570L	ENSP00000305941:F570L	F	-	3	2	USH2A	214532270	1.000000	0.71417	0.090000	0.20809	0.942000	0.58702	2.257000	0.43240	1.036000	0.39998	0.467000	0.42956	TTC		0.413	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
OR2T27	403239	broad.mit.edu	37	1	248814129	248814129	+	Missense_Mutation	SNP	G	G	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:248814129G>T	ENST00000344889.3	-	1	56	c.57C>A	c.(55-57)agC>agA	p.S19R		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	19						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACGGGCGTTGCTGAACAAAC	0.468																																						uc010pzo.2																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32						c.(55-57)agC>agA		Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.							88.0	80.0	83.0					1																	248814129		2203	4300	6503	SO:0001583	missense	403239				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248814129G>T		CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.57C>A	1.37:g.248814129G>T	ENSP00000342008:p.Ser19Arg						p.S19R	NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		0	57	-	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	19						Missense_Mutation	SNP	ENST00000344889.3	37	c.57C>A	CCDS31124.1	.	.	.	.	.	.	.	.	.	.	.	2.780	-0.253765	0.05829	.	.	ENSG00000187701	ENST00000344889	T	0.00330	8.08	3.3	0.0288	0.14160	.	0.000000	0.47455	D	0.000237	T	0.00178	0.0005	L	0.42632	1.34	0.09310	N	1	B	0.12013	0.005	B	0.15484	0.013	T	0.42172	-0.9467	10	0.33940	T	0.23	.	3.8744	0.09050	0.3104:0.0:0.52:0.1696	.	19	Q8NH04	O2T27_HUMAN	R	19	ENSP00000342008:S19R	ENSP00000342008:S19R	S	-	3	2	OR2T27	246880752	0.000000	0.05858	0.014000	0.15608	0.064000	0.16182	-0.041000	0.12084	-0.090000	0.12462	0.194000	0.17425	AGC		0.468	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097124.1	NM_001001824	
NEBL	10529	broad.mit.edu	37	10	21124444	21124444	+	Nonsense_Mutation	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr10:21124444C>A	ENST00000377122.4	-	14	1843	c.1447G>T	c.(1447-1449)Gag>Tag	p.E483*	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	483					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTACTAACCTCACTCGCTATC	0.423																																						uc001iqi.3																			0				NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(1447-1449)Gag>Tag		Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.							224.0	202.0	209.0					10																	21124444		2203	4300	6503	SO:0001587	stop_gained	10529				regulation of actin filament length		actin binding|structural constituent of muscle	g.chr10:21124444C>A	Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1447G>T	10.37:g.21124444C>A	ENSP00000366326:p.Glu483*					NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	p.E483*	NM_006393	NP_006384	O76041	NEBL_HUMAN			13	1844	-			483					B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Nonsense_Mutation	SNP	ENST00000377122.4	37	c.1447G>T	CCDS7134.1	.	.	.	.	.	.	.	.	.	.	C	38	6.933156	0.97944	.	.	ENSG00000078114	ENST00000377122	.	.	.	5.08	3.16	0.36331	.	0.672334	0.14263	N	0.330668	.	.	.	.	.	.	0.27871	N	0.940052	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	.	8.4412	0.32816	0.0:0.3727:0.5296:0.0977	.	.	.	.	X	483	.	ENSP00000366326:E483X	E	-	1	0	NEBL	21164450	0.959000	0.32827	0.379000	0.26080	0.113000	0.19764	1.109000	0.31135	1.136000	0.42199	0.505000	0.49811	GAG		0.423	NEBL-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000047113.1	NM_006393	
COL17A1	1308	broad.mit.edu	37	10	105798222	105798222	+	Silent	SNP	C	C	A	rs368653483		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr10:105798222C>A	ENST00000353479.5	-	45	3302	c.3012G>T	c.(3010-3012)ccG>ccT	p.P1004P	COL17A1_ENST00000369733.3_Silent_p.P959P	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1004	Triple-helical region.				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATAGAGCCCGGAGGCCCAG	0.607																																						uc001kxr.3																			0		p.P1004L(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62						c.(3010-3012)ccG>ccT		Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.							94.0	104.0	101.0					10																	105798222		2200	4296	6496	SO:0001819	synonymous_variant	1308				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	g.chr10:105798222C>A	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.3012G>T	10.37:g.105798222C>A							p.P1004P	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)	44	3181	-		Colorectal(252;0.103)|Breast(234;0.122)	1004			Triple-helical region.		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Silent	SNP	ENST00000353479.5	37	c.3012G>T	CCDS7554.1																																																																																				0.607	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050181.1	NM_130778, NM_000494	
CTSF	8722	broad.mit.edu	37	11	66334786	66334786	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:66334786G>A	ENST00000310325.5	-	4	647	c.538C>T	c.(538-540)Cct>Tct	p.P180S	CTSF_ENST00000533168.1_5'UTR	NM_003793.3	NP_003784.2	Q9UBX1	CATF_HUMAN	cathepsin F	180					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|vesicle (GO:0031982)	cysteine-type endopeptidase activity (GO:0004197)			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATCTTCACAGGCAAGTCCTGG	0.522																																						uc001oip.3																			0				endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						c.(538-540)Cct>Tct		Homo sapiens cathepsin F (CTSF), mRNA.							116.0	110.0	112.0					11																	66334786		2200	4295	6495	SO:0001583	missense	8722				proteolysis	lysosome	cysteine-type endopeptidase activity	g.chr11:66334786G>A	AF071749	CCDS8144.1	11q13.2	2012-02-29			ENSG00000174080	ENSG00000174080		"""Cathepsins"""	2531	protein-coding gene	gene with protein product		603539				9822672, 10318784	Standard	NM_003793		Approved	CATSF, CLN13	uc001oip.3	Q9UBX1	OTTHUMG00000167090	ENST00000310325.5:c.538C>T	11.37:g.66334786G>A	ENSP00000310832:p.Pro180Ser						p.P180S	NM_003793	NP_003784	Q9UBX1	CATF_HUMAN			3	628	-			180					B2R964|O95240|Q9NSU4|Q9UKQ5	Missense_Mutation	SNP	ENST00000310325.5	37	c.538C>T	CCDS8144.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.009|0.009	-1.807043|-1.807043	0.00606|0.00606	.|.	.|.	ENSG00000174080|ENSG00000174080	ENST00000524994|ENST00000310325;ENST00000526010	.|T;T	.|0.38887	.|2.06;1.11	5.14|5.14	-2.04|-2.04	0.07343|0.07343	.|.	.|1.291910	.|0.05294	.|N	.|0.521626	T|T	0.12475|0.12475	0.0303|0.0303	N|N	0.01168|0.01168	-0.975|-0.975	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.16305|0.16305	-1.0407|-1.0407	5|10	.|0.07813	.|T	.|0.8	.|.	3.2462|3.2462	0.06798|0.06798	0.3474:0.4309:0.0827:0.139|0.3474:0.4309:0.0827:0.139	.|.	.|180	.|Q9UBX1	.|CATF_HUMAN	V|S	28|180;88	.|ENSP00000310832:P180S;ENSP00000435822:P88S	.|ENSP00000310832:P180S	A|P	-|-	2|1	0|0	CTSF|CTSF	66091362|66091362	0.006000|0.006000	0.16342|0.16342	0.000000|0.000000	0.03702|0.03702	0.447000|0.447000	0.32167|0.32167	-0.101000|-0.101000	0.10973|0.10973	-0.562000|-0.562000	0.06086|0.06086	-1.373000|-1.373000	0.01185|0.01185	GCC|CCT		0.522	CTSF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393047.1	NM_003793	
SLCO2B1	11309	broad.mit.edu	37	11	74904384	74904384	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:74904384G>A	ENST00000289575.5	+	9	1592	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	SLCO2B1_ENST00000428359.2_Silent_p.E377E|SLCO2B1_ENST00000532236.1_Silent_p.E283E|SLCO2B1_ENST00000341411.4_Silent_p.E172E|SLCO2B1_ENST00000525650.1_Silent_p.E255E|SLCO2B1_ENST00000454962.2_Silent_p.E172E|SLCO2B1_ENST00000531756.1_Silent_p.E144E	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	399					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	AGTTCCTGGAGCGCCAGTTTT	0.612																																						uc001owb.3																			0				breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1195-1197)gaG>gaA		Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	Ergoloid mesylate(DB01049)						126.0	104.0	111.0					11																	74904384		2200	4293	6493	SO:0001819	synonymous_variant	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904384G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1197G>A	11.37:g.74904384G>A						SLCO2B1_uc010rrq.2_Silent_p.E144E|SLCO2B1_uc010rrr.2_Silent_p.E255E|SLCO2B1_uc010rrs.2_Silent_p.E283E|SLCO2B1_uc001owc.3_Silent_p.E172E|SLCO2B1_uc001owd.3_Silent_p.E377E	p.E399E	NM_007256	NP_001138683	O94956	SO2B1_HUMAN			8	1592	+			399					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Silent	SNP	ENST00000289575.5	37	c.1197G>A	CCDS8235.1																																																																																				0.612	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256	
C11orf63	79864	broad.mit.edu	37	11	122756720	122756720	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:122756720A>G	ENST00000531316.1	+	1	255	c.163A>G	c.(163-165)Atg>Gtg	p.M55V	C11orf63_ENST00000307257.6_Missense_Mutation_p.M55V|C11orf63_ENST00000227349.2_Missense_Mutation_p.M55V			Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	55					axoneme assembly (GO:0035082)|brain development (GO:0007420)|cerebrospinal fluid secretion (GO:0033326)|ciliary basal body organization (GO:0032053)					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCAAGAGATTATGTGCCATTC	0.488																																						uc001pym.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(163-165)Atg>Gtg		Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.							96.0	98.0	97.0					11																	122756720		2202	4299	6501	SO:0001583	missense	79864							g.chr11:122756720A>G	BC068507	CCDS8438.1, CCDS8439.1	11q24.1	2012-05-25			ENSG00000109944	ENSG00000109944			26288	protein-coding gene	gene with protein product						12477932	Standard	NM_024806		Approved	FLJ23554	uc001pym.4	Q6NUN7	OTTHUMG00000166027	ENST00000531316.1:c.163A>G	11.37:g.122756720A>G	ENSP00000431669:p.Met55Val					C11orf63_uc001pyl.1_Missense_Mutation_p.M55V	p.M55V	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)	1	460	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	55					A8K6G0|Q96GB5|Q9H5D6	Missense_Mutation	SNP	ENST00000531316.1	37	c.163A>G	CCDS8438.1	.	.	.	.	.	.	.	.	.	.	A	2.148	-0.395105	0.04899	.	.	ENSG00000109944	ENST00000307257;ENST00000227349;ENST00000531316	T;T	0.41400	1.0;1.0	5.76	2.17	0.27698	.	0.708846	0.13171	N	0.408277	T	0.25531	0.0621	N	0.22421	0.69	0.09310	N	1	B;B	0.18741	0.03;0.03	B;B	0.08055	0.001;0.003	T	0.18871	-1.0323	10	0.52906	T	0.07	-3.3269	4.78	0.13197	0.4866:0.2861:0.2274:0.0	.	55;55	Q6NUN7;Q6NUN7-2	CK063_HUMAN;.	V	55	ENSP00000227349:M55V;ENSP00000431669:M55V	ENSP00000227349:M55V	M	+	1	0	C11orf63	122261930	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.150000	0.10189	0.109000	0.17891	0.533000	0.62120	ATG		0.488	C11orf63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387511.1	NM_024806	
ATP5B	506	broad.mit.edu	37	12	57033894	57033894	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr12:57033894G>A	ENST00000262030.3	-	8	1207	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Missense_Mutation_p.S375L	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	386					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATGGCACGCGACAGTACAGT	0.512																																						uc001slr.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1156-1158)tCg>tTg		Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B), nuclear gene encoding mitochondrial protein, mRNA.							139.0	114.0	122.0					12																	57033894		2203	4300	6503	SO:0001583	missense	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57033894G>A	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1157C>T	12.37:g.57033894G>A	ENSP00000262030:p.Ser386Leu						p.S386L	NM_001686	NP_001677	P06576	ATPB_HUMAN			7	1262	-			386					A8K4X0|Q14283	Missense_Mutation	SNP	ENST00000262030.3	37	c.1157C>T	CCDS8924.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.367637	0.82463	.	.	ENSG00000110955	ENST00000262030;ENST00000552919;ENST00000552104;ENST00000551570	D;D;D	0.81499	-1.5;-1.5;-1.5	5.77	5.77	0.91146	ATPase, F1/V1/A1 complex, alpha/beta subunit, nucleotide-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94568	0.8250	H	0.99238	4.48	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96586	0.9434	10	0.87932	D	0	-18.6154	18.7629	0.91860	0.0:0.0:1.0:0.0	.	386	P06576	ATPB_HUMAN	L	386;375;89;130	ENSP00000262030:S386L;ENSP00000450297:S375L;ENSP00000448428:S130L	ENSP00000262030:S386L	S	-	2	0	ATP5B	55320161	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.653000	0.98506	2.723000	0.93209	0.655000	0.94253	TCG		0.512	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686	
MARS	4141	broad.mit.edu	37	12	57883052	57883053	+	Frame_Shift_Ins	INS	-	-	T	rs11540808		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr12:57883052_57883053insT	ENST00000262027.5	+	3	337_338	c.203_204insT	c.(202-207)tattttfs	p.YF68fs	ARHGAP9_ENST00000393797.2_5'Flank|ARHGAP9_ENST00000550288.1_5'Flank|MARS_ENST00000315473.5_5'UTR|MARS_ENST00000447721.2_Intron	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	68					gene expression (GO:0010467)|methionyl-tRNA aminoacylation (GO:0006431)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|methionine-tRNA ligase activity (GO:0004825)|tRNA binding (GO:0000049)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGGGCAGATATTTTTTTTTGT	0.485																																						uc001sog.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33						c.(202-204)tatfs		Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	L-Methionine(DB00134)																																			SO:0001589	frameshift_variant	4141				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding	g.chr12:57883052_57883053insT	X94754	CCDS8942.1	12q13.3	2014-05-06	2007-02-26		ENSG00000166986	ENSG00000166986	6.1.1.10	"""Aminoacyl tRNA synthetases / Class I"""	6898	protein-coding gene	gene with protein product	"""methionine tRNA ligase 1, cytoplasmic"""	156560				10448063, 24482476	Standard	NM_004990		Approved	MetRS, SPG70	uc001sog.3	P56192	OTTHUMG00000169996	ENST00000262027.5:c.212dupT	12.37:g.57883061_57883061dupT	ENSP00000262027:p.Tyr68fs					ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR	p.Y68fs	NM_004990	NP_004981	P56192	SYMC_HUMAN	GBM - Glioblastoma multiforme(3;4.27e-41)		2	357_358	+			68					B3KVK7|Q14895|Q53H14|Q96A15|Q96BZ0|Q9NSE0	Frame_Shift_Ins	INS	ENST00000262027.5	37	c.203_204insT	CCDS8942.1																																																																																				0.485	MARS-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407014.1	NM_004990	
FLT1	2321	broad.mit.edu	37	13	28877307	28877307	+	Missense_Mutation	SNP	G	G	C	rs201326398		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr13:28877307G>C	ENST00000282397.4	-	30	4265	c.4014C>G	c.(4012-4014)atC>atG	p.I1338M	FLT1_ENST00000540678.1_Missense_Mutation_p.I556M|FLT1_ENST00000543394.1_Missense_Mutation_p.I361M	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1338					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCAAACTCTAGATGGGTGGGG	0.488																																						uc001usb.3																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(4012-4014)atC>atG		Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	Sunitinib(DB01268)						54.0	56.0	56.0					13																	28877307		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28877307G>C	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.4014C>G	13.37:g.28877307G>C	ENSP00000282397:p.Ile1338Met					FLT1_uc010aap.2_Missense_Mutation_p.I343M|FLT1_uc010aaq.2_Missense_Mutation_p.I463M|FLT1_uc001usa.3_Missense_Mutation_p.I556M	p.I1338M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	29	4299	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1338					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.4014C>G	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	4.570	0.105921	0.08780	.	.	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;T;T	0.79141	-0.99;-1.24;-1.24	5.06	3.22	0.36961	.	1.035460	0.07699	N	0.939986	T	0.57666	0.2069	N	0.08118	0	0.24793	N	0.992748	B	0.29805	0.257	B	0.25614	0.062	T	0.52305	-0.8593	10	0.62326	D	0.03	.	5.4428	0.16519	0.192:0.1657:0.6423:0.0	.	1338	P17948	VGFR1_HUMAN	M	1338;361;556	ENSP00000282397:I1338M;ENSP00000437841:I361M;ENSP00000443311:I556M	ENSP00000282397:I1338M	I	-	3	3	FLT1	27775307	0.981000	0.34729	0.035000	0.18076	0.015000	0.08874	0.210000	0.17455	1.091000	0.41335	0.557000	0.71058	ATC		0.488	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
NALCN	259232	broad.mit.edu	37	13	101742235	101742235	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr13:101742235C>T	ENST00000251127.6	-	29	3433	c.3352G>A	c.(3352-3354)Gtg>Atg	p.V1118M		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1118					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTCACTTCCACCCAGCCTTTC	0.453																																						uc001vox.1																			0				NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(3352-3354)Gtg>Atg		Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.							249.0	258.0	255.0					13																	101742235		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101742235C>T	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3352G>A	13.37:g.101742235C>T	ENSP00000251127:p.Val1118Met						p.V1118M	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN			28	3541	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		1118					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.3352G>A	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662683	0.88251	.	.	ENSG00000102452	ENST00000251127	D	0.97404	-4.37	5.66	5.66	0.87406	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.95937	0.8677	N	0.13140	0.3	0.80722	D	1	D	0.58620	0.983	P	0.61003	0.882	D	0.94266	0.7506	10	0.17369	T	0.5	.	19.7395	0.96220	0.0:1.0:0.0:0.0	.	1118	Q8IZF0	NALCN_HUMAN	M	1118	ENSP00000251127:V1118M	ENSP00000251127:V1118M	V	-	1	0	NALCN	100540236	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.669000	0.90835	0.655000	0.94253	GTG		0.453	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867	
HERC1	8925	broad.mit.edu	37	15	63970125	63970125	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr15:63970125C>T	ENST00000443617.2	-	37	7076	c.6989G>A	c.(6988-6990)cGc>cAc	p.R2330H	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2330					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGTGGCATGGCGCCCAGTTTG	0.527																																						uc002amp.3																			0				NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						c.(6988-6990)cGc>cAc		Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.							155.0	160.0	158.0					15																	63970125		2146	4261	6407	SO:0001583	missense	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:63970125C>T	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.6989G>A	15.37:g.63970125C>T	ENSP00000390158:p.Arg2330His						p.R2330H	NM_003922	NP_003913	Q15751	HERC1_HUMAN			36	7137	-			2330					Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	c.6989G>A	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	C	35	5.452210	0.96223	.	.	ENSG00000103657	ENST00000443617	T	0.31510	1.49	5.81	5.81	0.92471	.	0.000000	0.64402	D	0.000001	T	0.54271	0.1848	L	0.55481	1.735	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	T	0.52563	-0.8559	10	0.87932	D	0	.	20.0628	0.97684	0.0:1.0:0.0:0.0	.	2330	Q15751	HERC1_HUMAN	H	2330	ENSP00000390158:R2330H	ENSP00000390158:R2330H	R	-	2	0	HERC1	61757178	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.745000	0.94114	0.655000	0.94253	CGC		0.527	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
RBFOX1	54715	broad.mit.edu	37	16	7629900	7629900	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr16:7629900C>T	ENST00000550418.1	+	6	1380	c.392C>T	c.(391-393)cCg>cTg	p.P131L	RBFOX1_ENST00000355637.4_Missense_Mutation_p.P151L|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P151L|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P151L|RBFOX1_ENST00000340209.4_Missense_Mutation_p.P136L|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P131L|RBFOX1_ENST00000422070.4_Missense_Mutation_p.P174L|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P174L|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P131L|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P166L|RBFOX1_ENST00000535565.2_Intron	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	131	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TTCCGGGATCCGGACCTCAGA	0.537																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						c.(391-393)cCg>cTg		Homo sapiens RNA binding protein, fox-1 homolog (C. elegans) 1 (RBFOX1), transcript variant 4, mRNA.							93.0	86.0	88.0					16																	7629900		2197	4300	6497	SO:0001583	missense	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7629900C>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.392C>T	16.37:g.7629900C>T	ENSP00000450031:p.Pro131Leu					RBFOX1_uc010buf.1_Missense_Mutation_p.P131L|RBFOX1_uc002cyr.1_Missense_Mutation_p.P130L|RBFOX1_uc002cyt.2_Missense_Mutation_p.P131L|RBFOX1_uc010uxz.1_Missense_Mutation_p.P174L|RBFOX1_uc010uya.1_Intron|RBFOX1_uc002cyv.1_Missense_Mutation_p.P131L|RBFOX1_uc010uyb.1_Missense_Mutation_p.P131L|RBFOX1_uc002cyw.2_Missense_Mutation_p.P151L|RBFOX1_uc002cyy.2_Missense_Mutation_p.P151L|RBFOX1_uc002cyx.2_Missense_Mutation_p.P151L|RBFOX1_uc010uyc.1_Missense_Mutation_p.P151L	p.P131L	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN			5	1380	+			131			RRM.		Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.392C>T	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	34	5.354772	0.95854	.	.	ENSG00000078328	ENST00000547605;ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000552089;ENST00000551752;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T;T;T;T	0.35236	2.41;2.41;2.41;2.41;2.41;1.32;2.41;2.41;2.41;2.41;2.41;2.41	5.39	5.39	0.77823	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.44435	0.1293	N	0.10837	0.055	0.80722	D	1	D;P;D;D;D;P;D;D	0.89917	0.982;0.805;1.0;0.998;1.0;0.929;0.987;0.984	P;B;D;D;D;P;P;P	0.97110	0.766;0.402;1.0;0.971;0.997;0.495;0.871;0.813	T	0.56275	-0.8006	10	0.87932	D	0	-8.0831	19.1841	0.93635	0.0:1.0:0.0:0.0	.	151;174;151;151;151;131;131;174	F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1;F8VZG9	.;.;.;.;.;.;RFOX1_HUMAN;.	L	130;131;131;174;174;166;131;131;151;151;151;151;136	ENSP00000450402:P130L;ENSP00000450031:P131L;ENSP00000447753:P131L;ENSP00000446842:P174L;ENSP00000391269:P174L;ENSP00000448496:P166L;ENSP00000447281:P131L;ENSP00000447717:P131L;ENSP00000402745:P151L;ENSP00000309117:P151L;ENSP00000347855:P151L;ENSP00000344196:P136L	ENSP00000309117:P151L	P	+	2	0	RBFOX1	7569901	1.000000	0.71417	0.992000	0.48379	0.994000	0.84299	7.461000	0.80834	2.537000	0.85549	0.655000	0.94253	CCG		0.537	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						uc002edh.1																			0											c.(262-264)aaA>aaC		Homo sapiens solute carrier family 6 (neurotransmitter transporter, creatine), member 10, pseudogene (SLC6A10P), non-coding RNA.																																						386757							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G						SLC6A10P_uc002edi.1_Non-coding_Transcript	p.K88N							4	440	-									Missense_Mutation	SNP	ENST00000330048.5	37	c.264A>C																																																																																					0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2		
LCAT	3931	broad.mit.edu	37	16	67976842	67976842	+	Missense_Mutation	SNP	C	C	T	rs28940886		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr16:67976842C>T	ENST00000264005.5	-	3	378	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	CTC-479C5.17_ENST00000590594.1_lincRNA	NM_000229.1	NP_000220.1	P04180	LCAT_HUMAN	lecithin-cholesterol acyltransferase	117			A -> T (in LCATD; dbSNP:rs28940886). {ECO:0000269|PubMed:8318557, ECO:0000269|PubMed:8432868}.		cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|high-density lipoprotein particle remodeling (GO:0034375)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein metabolic process (GO:0042157)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|regulation of high-density lipoprotein particle assembly (GO:0090107)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)	apolipoprotein A-I binding (GO:0034186)|phosphatidylcholine-sterol O-acyltransferase activity (GO:0004607)			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		ACACCAGGGGCGTTGGACACG	0.642																																						uc002euy.1																			0				cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16	GRCh37	CM930463	LCAT	M	rs28940886	c.(349-351)Gcc>Acc		Homo sapiens lecithin-cholesterol acyltransferase (LCAT), mRNA.							67.0	74.0	72.0					16																	67976842		2198	4300	6498	SO:0001583	missense	3931				cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity	g.chr16:67976842C>T		CCDS10854.1	16q22.1	2012-10-02			ENSG00000213398	ENSG00000213398	2.3.1.43		6522	protein-coding gene	gene with protein product		606967					Standard	NM_000229		Approved		uc002euy.1	P04180	OTTHUMG00000137551	ENST00000264005.5:c.349G>A	16.37:g.67976842C>T	ENSP00000264005:p.Ala117Thr						p.A117T	NM_000229	NP_000220	P04180	LCAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)	2	360	-		Ovarian(137;0.0563)	117		A -> T (in LCATD; dbSNP:rs28940886).			Q53XQ3	Missense_Mutation	SNP	ENST00000264005.5	37	c.349G>A	CCDS10854.1	.	.	.	.	.	.	.	.	.	.	C	9.891	1.204292	0.22205	.	.	ENSG00000213398	ENST00000264005	D	0.95724	-3.79	5.98	5.98	0.97165	.	0.072028	0.53938	U	0.000051	D	0.95937	0.8677	L	0.56199	1.76	0.37303	D	0.908776	D	0.71674	0.998	P	0.58130	0.833	D	0.94418	0.7638	10	0.14252	T	0.57	-17.2795	18.0148	0.89236	0.0:1.0:0.0:0.0	rs28940886	117	P04180	LCAT_HUMAN	T	117	ENSP00000264005:A117T	ENSP00000264005:A117T	A	-	1	0	LCAT	66534343	0.997000	0.39634	1.000000	0.80357	0.841000	0.47740	3.050000	0.49877	2.861000	0.98227	0.650000	0.86243	GCC		0.642	LCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268885.3		
USP6	9098	broad.mit.edu	37	17	5037198	5037198	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:5037198G>A	ENST00000574788.1	+	15	2631	c.401G>A	c.(400-402)gGc>gAc	p.G134D	USP6_ENST00000332776.4_Missense_Mutation_p.G134D|USP6_ENST00000304328.5_5'UTR|USP6_ENST00000250066.6_Missense_Mutation_p.G134D			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6	134	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				cellular protein modification process (GO:0006464)|protein deubiquitination (GO:0016579)|regulation of vesicle-mediated transport (GO:0060627)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	calmodulin binding (GO:0005516)|cysteine-type endopeptidase activity (GO:0004197)|nucleic acid binding (GO:0003676)|Rab GTPase activator activity (GO:0005097)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAGGAGAGGGGCAAGAGGTCA	0.552			T	"""COL1A1, CDH11, ZNF9, OMD"""	aneurysmal bone cysts																																	uc002gau.1				Dom	yes		17	17p13	9098	T	ubiquitin specific peptidase 6 (Tre-2 oncogene)			M	"""COL1A1, CDH11, ZNF9, OMD"""		aneurysmal bone cysts		0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(400-402)gGc>gAc		Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.							193.0	171.0	178.0					17																	5037198		2203	4300	6503	SO:0001583	missense	9098				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr17:5037198G>A	X63547	CCDS11069.2	17p13	2014-06-12	2014-06-12		ENSG00000129204	ENSG00000129204	3.4.19.12	"""Ubiquitin-specific peptidases"""	12629	protein-coding gene	gene with protein product	"""ubiquitin carboxyl-terminal hydrolase 6"", ""TBC1D3 and USP32 fusion"", ""Tre-2 oncogene"""	604334	"""ubiquitin specific protease 6 (Tre-2 oncogene)"", ""TRE oncogene, Smith Magenis syndrome chromosome region"", ""ubiquitin specific peptidase 6 (Tre-2 oncogene)"""	HRP1, TRESMCR		12838346, 1349106	Standard	NM_004505		Approved	Tre-2, TRE17, Tre2	uc002gav.1	P35125	OTTHUMG00000099449	ENST00000574788.1:c.401G>A	17.37:g.5037198G>A	ENSP00000460380:p.Gly134Asp					USP6_uc002gav.1_Missense_Mutation_p.G134D|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.3_Missense_Mutation_p.G195D|DQ586040_uc002gay.1_5'Flank|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank	p.G134D	NM_004505	NP_004496	P35125	UBP6_HUMAN			14	2631	+			134			Rab-GAP TBC.		Q15634|Q86WP6|Q8IWT4	Missense_Mutation	SNP	ENST00000574788.1	37	c.401G>A	CCDS11069.2	.	.	.	.	.	.	.	.	.	.	G	13.48	2.249923	0.39797	.	.	ENSG00000129204	ENST00000332776;ENST00000250066	T;T	0.10668	2.85;2.85	0.862	0.862	0.19056	Rab-GAP/TBC domain (4);	0.108809	0.64402	D	0.000004	T	0.09247	0.0228	L	0.58428	1.81	0.52501	D	0.999952	P;P	0.52061	0.894;0.95	B;B	0.39119	0.291;0.28	T	0.12293	-1.0553	10	0.87932	D	0	.	5.4	0.16291	0.0:0.0:1.0:0.0	.	134;134	B9A6N0;P35125	.;UBP6_HUMAN	D	134	ENSP00000328010:G134D;ENSP00000250066:G134D	ENSP00000250066:G134D	G	+	2	0	USP6	4977922	1.000000	0.71417	0.115000	0.21578	0.116000	0.19942	2.224000	0.42945	0.132000	0.18615	0.134000	0.15878	GGC		0.552	USP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438990.1	NM_004505	
TP53	7157	broad.mit.edu	37	17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A	rs193920774		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:7577141C>A	ENST00000269305.4	-	8	986	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G266V|TP53_ENST00000445888.2_Missense_Mutation_p.G266V|TP53_ENST00000420246.2_Missense_Mutation_p.G266V|TP53_ENST00000359597.4_Missense_Mutation_p.G266V|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCTGTTCCGTCCCAGTAGATT	0.517		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		121	Substitution - Missense(95)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(3)	p.G266E(99)|p.G266V(78)|p.G266R(45)|p.L265P(15)|p.G266*(13)|p.G266fs*79(8)|p.0?(8)|p.G262_F270delGNLLGRNSF(4)|p.G266A(4)|p.L265R(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.L265del(2)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.L265Q(1)	lung(23)|oesophagus(10)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(9)|breast(9)|upper_aerodigestive_tract(8)|ovary(8)|urinary_tract(7)|pancreas(6)|skin(5)|central_nervous_system(4)|stomach(4)|bone(4)|liver(4)|endometrium(3)|vulva(1)|kidney(1)|thyroid(1)|cervix(1)|eye(1)|genital_tract(1)|biliary_tract(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(796-798)gGa>gTa	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							50.0	44.0	46.0					17																	7577141		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577141C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.797G>T	17.37:g.7577141C>A	ENSP00000269305:p.Gly266Val	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134V|TP53_uc010cnf.1_Missense_Mutation_p.G134V|TP53_uc002gii.1_Missense_Mutation_p.G134V|TP53_uc010cni.1_Missense_Mutation_p.G266V|TP53_uc010cnh.1_Missense_Mutation_p.G266V|TP53_uc002gij.2_Missense_Mutation_p.G266V|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	p.G266V	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	991	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	266		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.797G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.388215	0.82902	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99906	0.9955	M	0.92367	3.3	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.999;0.999	D	0.96190	0.9137	10	0.87932	D	0	-13.0798	16.1198	0.81342	0.0:1.0:0.0:0.0	.	266;266;266;266	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	V	266;266;266;266;266;255;134	ENSP00000352610:G266V;ENSP00000269305:G266V;ENSP00000398846:G266V;ENSP00000391127:G266V;ENSP00000391478:G266V;ENSP00000425104:G134V	ENSP00000269305:G266V	G	-	2	0	TP53	7517866	1.000000	0.71417	0.996000	0.52242	0.744000	0.42396	7.587000	0.82613	2.667000	0.90743	0.462000	0.41574	GGA		0.517	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
KRT40	125115	broad.mit.edu	37	17	39135111	39135111	+	Missense_Mutation	SNP	G	G	A	rs200561810		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:39135111G>A	ENST00000398486.2	-	8	1301	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	KRT40_ENST00000377755.4_Missense_Mutation_p.R381W|AC004231.2_ENST00000418393.1_RNA	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	381	Coil 2.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CCCTCCAGCCGGGCCTTCACG	0.582													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15977	0.0		0.0	False		,,,				2504	0.0					uc010cxh.1																			0				endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9						c.(1141-1143)Cgg>Tgg		Homo sapiens keratin 40 (KRT40), mRNA.		G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	83.0	92.0	89.0		1141	3.5	1.0	17		89	0,8592		0,0,4296	no	missense	KRT40	NM_182497.3	101	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	381/432	39135111	1,12997	2203	4296	6499	SO:0001583	missense	125115					intermediate filament	structural molecule activity	g.chr17:39135111G>A	AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.1141C>T	17.37:g.39135111G>A	ENSP00000381500:p.Arg381Trp					KRT40_uc002hvq.1_Non-coding_Transcript	p.R381W	NM_182497	NP_872303	Q6A162	K1C40_HUMAN			7	1302	-		Breast(137;0.00043)	381			Coil 2.|Rod.		Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	c.1141C>T	CCDS42320.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	19.26	3.792495	0.70452	2.27E-4	0.0	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.90004	-2.6;-2.6	5.56	3.49	0.39957	Filament (1);	0.290973	0.18619	N	0.135928	D	0.94974	0.8374	H	0.97186	3.955	0.33265	D	0.560293	D	0.56521	0.976	P	0.54238	0.746	D	0.97038	0.9755	10	0.87932	D	0	.	13.1158	0.59299	0.0:0.0:0.5354:0.4646	.	381	Q6A162	K1C40_HUMAN	W	381	ENSP00000366984:R381W;ENSP00000381500:R381W	ENSP00000366984:R381W	R	-	1	2	KRT40	36388637	0.053000	0.20554	1.000000	0.80357	0.742000	0.42306	2.190000	0.42630	0.732000	0.32470	0.655000	0.94253	CGG		0.582	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497	
SP6	80320	broad.mit.edu	37	17	45925367	45925367	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:45925367G>A	ENST00000536300.1	-	2	760	c.429C>T	c.(427-429)ggC>ggT	p.G143G	SP6_ENST00000342234.2_Silent_p.G143G	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	143					positive regulation of cell proliferation (GO:0008284)|regulation of odontogenesis (GO:0042481)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCCCCGGGTGGCCAGGTGAGG	0.706																																						uc002imh.1																			0				large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						c.(427-429)ggC>ggT		Homo sapiens Sp6 transcription factor (SP6), mRNA.							12.0	14.0	14.0					17																	45925367		2183	4285	6468	SO:0001819	synonymous_variant	80320				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr17:45925367G>A		CCDS11520.1	17q21.32	2013-01-08			ENSG00000189120	ENSG00000189120		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14530	protein-coding gene	gene with protein product	"""epiprofin"""	608613				11087666, 14551215	Standard	NM_001258248		Approved	KLF14, Epfn	uc002img.2	Q3SY56	OTTHUMG00000132067	ENST00000536300.1:c.429C>T	17.37:g.45925367G>A						SP6_uc002img.1_Silent_p.G143G|SP6_uc021tzc.1_Silent_p.G143G	p.G143G	NM_199262	NP_954871	Q3SY56	SP6_HUMAN			1	707	-			143					B3KXS4	Silent	SNP	ENST00000536300.1	37	c.429C>T	CCDS11520.1																																																																																				0.706	SP6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441395.1	NM_199262	
OTOP2	92736	broad.mit.edu	37	17	72926423	72926423	+	Silent	SNP	C	C	T	rs369210322		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:72926423C>T	ENST00000580223.1	+	5	723	c.693C>T	c.(691-693)gcC>gcT	p.A231A	OTOP2_ENST00000331427.4_Silent_p.A231A			Q7RTS6	OTOP2_HUMAN	otopetrin 2	231						integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GCAGCACGGCCGTCTGCCAGA	0.562													C|||	1	0.000199681	0.0	0.0	5008	,	,		18419	0.001		0.0	False		,,,				2504	0.0					uc010wrp.2																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39						c.(691-693)gcC>gcT		Homo sapiens otopetrin 2 (OTOP2), mRNA.							134.0	129.0	131.0					17																	72926423		2203	4300	6503	SO:0001819	synonymous_variant	92736					integral to membrane		g.chr17:72926423C>T	BK000567	CCDS11708.1	17q25.3	2006-09-20				ENSG00000183034			19657	protein-coding gene	gene with protein product		607827				12651873	Standard	NM_178160		Approved		uc010wrp.2	Q7RTS6		ENST00000580223.1:c.693C>T	17.37:g.72926423C>T							p.A231A	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN			5	785	+	all_lung(278;0.172)|Lung NSC(278;0.207)		231						Silent	SNP	ENST00000580223.1	37	c.693C>T	CCDS11708.1																																																																																				0.562	OTOP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445306.1	NM_178160	
PRPSAP1	5635	broad.mit.edu	37	17	74326154	74326154	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:74326154A>G	ENST00000446526.3	-	6	1050	c.605T>C	c.(604-606)aTt>aCt	p.I202T	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.I99T	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	173					negative regulation of kinase activity (GO:0033673)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CTTAGCTACAATGACTGCATT	0.393																																						uc010wtb.1																			0				cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						c.(295-297)aTt>aCt		Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.							162.0	155.0	157.0					17																	74326154		2203	4300	6503	SO:0001583	missense	5635				nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity	g.chr17:74326154A>G	D61391	CCDS11743.2	17q24-q25	2008-07-18			ENSG00000161542	ENSG00000161542			9466	protein-coding gene	gene with protein product		601249				8660991	Standard	NM_002766		Approved	PAP39	uc010wta.1	Q14558	OTTHUMG00000155969	ENST00000446526.3:c.605T>C	17.37:g.74326154A>G	ENSP00000414624:p.Ile202Thr					PRPSAP1_uc010wta.1_Missense_Mutation_p.I202T	p.I99T	NM_002766	NP_002757	Q14558	KPRA_HUMAN			5	517	-			173					B2R6M4|Q96H06	Missense_Mutation	SNP	ENST00000446526.3	37	c.296T>C	CCDS11743.2	.	.	.	.	.	.	.	.	.	.	A	26.8	4.775814	0.90195	.	.	ENSG00000161542	ENST00000446526;ENST00000324684;ENST00000435555;ENST00000436498	T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	D	0.91116	0.7203	H	0.95745	3.715	0.80722	D	1	D;D	0.71674	0.983;0.998	P;D	0.66979	0.844;0.948	D	0.93753	0.7060	10	0.87932	D	0	.	15.7287	0.77784	1.0:0.0:0.0:0.0	.	173;202	Q14558;Q14558-2	KPRA_HUMAN;.	T	202;99;99;99	ENSP00000414624:I202T;ENSP00000314973:I99T;ENSP00000392838:I99T;ENSP00000387494:I99T	ENSP00000314973:I99T	I	-	2	0	PRPSAP1	71837749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.062000	0.93920	2.168000	0.68352	0.533000	0.62120	ATT		0.393	PRPSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342480.2	NM_002766	
COLEC12	81035	broad.mit.edu	37	18	335090	335090	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr18:335090C>G	ENST00000400256.3	-	6	1675	c.1468G>C	c.(1468-1470)Gct>Cct	p.A490P		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	490	Collagen-like 2.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGGGGACCAGCTGGTCCAATT	0.677																																						uc002kkm.3																			0		p.P489L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(1468-1470)Gct>Cct		Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.							31.0	34.0	33.0					18																	335090		2192	4286	6478	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:335090C>G	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1468G>C	18.37:g.335090C>G	ENSP00000383115:p.Ala490Pro						p.A490P	NM_130386	NP_569057	Q5KU26	COL12_HUMAN			5	1683	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	490			Collagen-like 2.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1468G>C	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	C	5.827	0.336844	0.11013	.	.	ENSG00000158270	ENST00000400256	T	0.19938	2.11	5.67	2.49	0.30216	.	0.465546	0.25397	N	0.030963	T	0.06280	0.0162	N	0.02973	-0.45	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40289	-0.9571	10	0.05959	T	0.93	-1.0244	6.5749	0.22560	0.0:0.5504:0.1322:0.3174	.	490	Q5KU26	COL12_HUMAN	P	490	ENSP00000383115:A490P	ENSP00000383115:A490P	A	-	1	0	COLEC12	325090	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.152000	0.16302	0.727000	0.32360	0.655000	0.94253	GCT		0.677	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1		
ICAM1	3383	broad.mit.edu	37	19	10394791	10394791	+	Silent	SNP	C	C	T	rs143689328	byFrequency	TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:10394791C>T	ENST00000264832.3	+	4	1045	c.720C>T	c.(718-720)gaC>gaT	p.D240D	ICAM4_ENST00000380770.3_5'Flank|ICAM1_ENST00000423829.2_Intron|CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_5'Flank|CTD-2369P2.5_ENST00000592893.1_RNA|ICAM4_ENST00000340992.4_5'Flank	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	240	Ig-like C2-type 3.				adhesion of symbiont to host (GO:0044406)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell aging (GO:0007569)|cellular response to alkaloid (GO:0071312)|cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nutrient levels (GO:0031669)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|establishment of endothelial barrier (GO:0061028)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|ovarian follicle development (GO:0001541)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cellular extravasation (GO:0002693)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of vasoconstriction (GO:0045907)|receptor-mediated virion attachment to host cell (GO:0046813)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of leukocyte mediated cytotoxicity (GO:0001910)|regulation of ruffle assembly (GO:1900027)|response to amino acid (GO:0043200)|response to amphetamine (GO:0001975)|response to copper ion (GO:0046688)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to gonadotropin (GO:0034698)|response to ionizing radiation (GO:0010212)|response to organic cyclic compound (GO:0014070)|response to sulfur dioxide (GO:0010477)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)|T cell antigen processing and presentation (GO:0002457)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|virus receptor activity (GO:0001618)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Hyaluronan(DB08818)|Natalizumab(DB00108)	GTTCCCTGGACGGGCTGTTCC	0.637																																						uc002mnq.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(718-720)gaC>gaT		Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	Natalizumab(DB00108)|Simvastatin(DB00641)	T		1,4405	2.1+/-5.4	0,1,2202	70.0	64.0	66.0		720	-8.6	0.0	19	dbSNP_134	66	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ICAM1	NM_000201.2		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		240/533	10394791	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	3383				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity	g.chr19:10394791C>T		CCDS12231.1	19p13.3-p13.2	2014-01-30	2008-07-18			ENSG00000090339		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Endogenous ligands"""	5344	protein-coding gene	gene with protein product	"""human rhinovirus receptor"""	147840				2453850, 3871395	Standard	NM_000201		Approved	BB2, CD54	uc002mnq.2	P05362		ENST00000264832.3:c.720C>T	19.37:g.10394791C>T						ICAM1_uc010xle.1_Intron|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	p.D240D	NM_000201	NP_000192	P05362	ICAM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		3	1039	+			240			Ig-like C2-type 3.		B2R6M3|Q5NKV7|Q96B50	Silent	SNP	ENST00000264832.3	37	c.720C>T	CCDS12231.1																																																																																				0.637	ICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451207.1		
SMARCA4	6597	broad.mit.edu	37	19	11132404	11132404	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:11132404C>T	ENST00000429416.3	+	20	2901	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	SMARCA4_ENST00000344626.4_Missense_Mutation_p.R874C|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R874C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R874C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R874C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R874C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R874C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R874C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R874C	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	874	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCGCAGATCCGTTGGAAGTA	0.632			"""F, N, Mis"""		NSCLC																																	uc010dxp.3				Rec	yes		19	19p13.2	6597	"""F, N, Mis"""	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		1	Unknown(1)	p.?(1)	lung(1)	adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163						c.(2620-2622)Cgt>Tgt		Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.							46.0	38.0	40.0					19																	11132404		2202	4300	6502	SO:0001583	missense	6597				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11132404C>T	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2620C>T	19.37:g.11132404C>T	ENSP00000395654:p.Arg874Cys					SMARCA4_uc010dxo.3_Missense_Mutation_p.R874C|SMARCA4_uc002mqf.4_Missense_Mutation_p.R874C|SMARCA4_uc002mqg.1_Missense_Mutation_p.R874C|SMARCA4_uc010dxq.3_Missense_Mutation_p.R874C|SMARCA4_uc010dxr.3_Missense_Mutation_p.R874C|SMARCA4_uc002mqj.4_Missense_Mutation_p.R874C|SMARCA4_uc010dxs.3_Missense_Mutation_p.R874C|SMARCA4_uc010dxt.1_Missense_Mutation_p.R94C|SMARCA4_uc002mqh.4_5'UTR|SMARCA4_uc002mqi.1_Missense_Mutation_p.R77C	p.R874C	NM_001128844	NP_003063	P51532	SMCA4_HUMAN			19	2980	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	874			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2620C>T	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	C	17.41	3.381646	0.61845	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93763	-3.28;-3.28;-3.28;-3.28;-3.28;-3.28;-3.28	4.66	4.66	0.58398	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.96021	0.8704	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.79784	0.985;0.985;0.985;0.985;0.993;0.967;0.985;0.985	D	0.96512	0.9379	10	0.87932	D	0	-20.8892	16.4906	0.84200	0.0:1.0:0.0:0.0	.	874;874;874;874;874;94;874;874	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	C	874;874;938;874;874;874;874;874	ENSP00000395654:R874C;ENSP00000350720:R874C;ENSP00000343896:R874C;ENSP00000445036:R874C;ENSP00000392837:R874C;ENSP00000397783:R874C;ENSP00000414727:R874C	ENSP00000343896:R874C	R	+	1	0	SMARCA4	10993404	1.000000	0.71417	0.996000	0.52242	0.089000	0.18198	5.924000	0.70054	2.425000	0.82216	0.655000	0.94253	CGT		0.632	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072	
ZNF625	90589	broad.mit.edu	37	19	12256527	12256527	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:12256527C>T	ENST00000355738.1	-	4	855	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	ZNF625-ZNF20_ENST00000430024.1_Intron|CTC-359D24.3_ENST00000472362.1_RNA|ZNF625_ENST00000455799.1_3'UTR|ZNF625_ENST00000439556.2_Missense_Mutation_p.R235Q|ZNF625_ENST00000542938.1_Missense_Mutation_p.R169Q			Q96I27	ZN625_HUMAN	zinc finger protein 625	169					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R169Q(2)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TTCATGTATTCGAAGGCTACC	0.408																																						uc010dyo.2																			2	Substitution - Missense(2)	p.R169Q(2)	large_intestine(2)	breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						c.(703-705)cGa>cAa		Homo sapiens zinc finger protein 625 (ZNF625), transcript variant 1, mRNA.							134.0	122.0	126.0					19																	12256527		2203	4300	6503	SO:0001583	missense	90589				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12256527C>T	BC007868	CCDS12269.1, CCDS12269.2	19p13.2	2013-01-08			ENSG00000257591	ENSG00000257591		"""Zinc fingers, C2H2-type"", ""-"""	30571	protein-coding gene	gene with protein product						12477932	Standard	NM_145233		Approved		uc010dyo.2	Q96I27	OTTHUMG00000156407	ENST00000355738.1:c.506G>A	19.37:g.12256527C>T	ENSP00000347977:p.Arg169Gln					ZNF20_uc002mtg.2_Intron|ZNF625_uc010dyn.2_Non-coding_Transcript|ZNF625_uc002mth.3_Missense_Mutation_p.R169Q|ZNF625_uc021upn.1_Missense_Mutation_p.R169Q	p.R235Q	NM_145233	NP_660276	Q96I27	ZN625_HUMAN			3	877	-			169					A4FU45|I3L0E9	Missense_Mutation	SNP	ENST00000355738.1	37	c.704G>A		.	.	.	.	.	.	.	.	.	.	C	7.205	0.594292	0.13875	.	.	ENSG00000257591	ENST00000542938;ENST00000355738;ENST00000439556	T;T;T	0.07444	3.19;3.19;3.19	0.856	-1.5	0.08691	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.04092	0.0114	N	0.20986	0.625	0.09310	N	1	B;B	0.34329	0.192;0.449	B;B	0.26614	0.001;0.071	T	0.44112	-0.9349	9	0.20519	T	0.43	.	5.913	0.19039	0.0:0.6765:0.0:0.3235	.	169;169	A8K8U0;Q96I27	.;ZN625_HUMAN	Q	169;169;235	ENSP00000438436:R169Q;ENSP00000347977:R169Q;ENSP00000394380:R235Q	ENSP00000347977:R169Q	R	-	2	0	AC022415.5	12117527	0.000000	0.05858	0.017000	0.16124	0.828000	0.46876	-2.546000	0.00932	-0.603000	0.05767	0.313000	0.20887	CGA		0.408	ZNF625-201	KNOWN	basic	protein_coding	protein_coding		NM_145233	
B3GNT3	10331	broad.mit.edu	37	19	17922705	17922705	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:17922705T>C	ENST00000318683.6	+	3	1040	c.893T>C	c.(892-894)gTc>gCc	p.V298A	B3GNT3_ENST00000595387.1_Missense_Mutation_p.V298A	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	298					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity (GO:0047223)|galactosyltransferase activity (GO:0008378)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						ATTGATGATGTCTTCCTGGGT	0.632																																						uc002nhl.1																			0		p.D297D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						c.(892-894)gTc>gCc		Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.							137.0	119.0	125.0					19																	17922705		2203	4300	6503	SO:0001583	missense	10331				protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	g.chr19:17922705T>C	AB015630	CCDS12364.1	19p13.1	2013-02-19				ENSG00000179913		"""Beta 3-glycosyltransferases"""	13528	protein-coding gene	gene with protein product	"""putative type II membrane protein"", ""beta-1,3-N-acetylglucosaminyltransferase bGnT-3"", ""transmembrane protein 3"""	605863		TMEM3		10072769, 11042166	Standard	NM_014256		Approved	B3GN-T3, beta3Gn-T3, HP10328, B3GNT-3	uc002nhl.1	Q9Y2A9		ENST00000318683.6:c.893T>C	19.37:g.17922705T>C	ENSP00000321874:p.Val298Ala					B3GNT3_uc010ebd.1_Missense_Mutation_p.V298A|B3GNT3_uc010ebe.1_Missense_Mutation_p.V298A	p.V298A	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN			2	1040	+			298					B2RAS4|Q6NWU9|Q6NXU9|Q8WWR6|Q9C0J2	Missense_Mutation	SNP	ENST00000318683.6	37	c.893T>C	CCDS12364.1	.	.	.	.	.	.	.	.	.	.	T	6.648	0.488022	0.12641	.	.	ENSG00000179913	ENST00000318683	T	0.51574	0.7	5.23	5.23	0.72850	.	0.000000	0.64402	D	0.000001	T	0.44664	0.1304	L	0.49571	1.57	0.50813	D	0.999892	B	0.17465	0.022	B	0.29785	0.107	T	0.32428	-0.9907	10	0.23302	T	0.38	.	13.0416	0.58901	0.0:0.0:0.0:1.0	.	298	Q9Y2A9	B3GN3_HUMAN	A	298	ENSP00000321874:V298A	ENSP00000321874:V298A	V	+	2	0	B3GNT3	17783705	1.000000	0.71417	0.998000	0.56505	0.030000	0.12068	3.982000	0.56909	1.983000	0.57843	0.459000	0.35465	GTC		0.632	B3GNT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466877.1	NM_014256	
JAK3	3718	broad.mit.edu	37	19	17943330	17943330	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:17943330G>A	ENST00000527670.1	-	18	2707	c.2678C>T	c.(2677-2679)cCg>cTg	p.P893L	JAK3_ENST00000534444.1_Missense_Mutation_p.P893L|JAK3_ENST00000458235.1_Missense_Mutation_p.P893L			P52333	JAK3_HUMAN	Janus kinase 3	893	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	TGGCTCACCCGGGCCATAGCT	0.542		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	uc002nhn.4		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(2677-2679)cCg>cTg		Homo sapiens Janus kinase 3 (JAK3), mRNA.							97.0	89.0	92.0					19																	17943330		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17943330G>A	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.2678C>T	19.37:g.17943330G>A	ENSP00000432511:p.Pro893Leu					JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.P893L	p.P893L	NM_000215	NP_000206	P52333	JAK3_HUMAN			18	2778	-			893			Protein kinase 2.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.2678C>T	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	G	8.339	0.828350	0.16749	.	.	ENSG00000105639	ENST00000458235;ENST00000527670;ENST00000534444	T;T;D	0.89617	-0.04;-0.04;-2.54	4.52	4.52	0.55395	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.348186	0.29745	N	0.011310	D	0.84156	0.5410	L	0.35542	1.07	0.52099	D	0.999944	D;P	0.58970	0.984;0.648	P;B	0.44447	0.45;0.063	T	0.83064	-0.0146	10	0.28530	T	0.3	-18.6685	15.1136	0.72380	0.0:0.0:1.0:0.0	.	893;893	P52333-2;P52333	.;JAK3_HUMAN	L	893	ENSP00000391676:P893L;ENSP00000432511:P893L;ENSP00000436421:P893L	ENSP00000391676:P893L	P	-	2	0	JAK3	17804330	0.992000	0.36948	0.888000	0.34837	0.212000	0.24457	2.185000	0.42584	2.510000	0.84645	0.549000	0.68633	CCG		0.542	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215	
ZNF792	126375	broad.mit.edu	37	19	35449589	35449589	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:35449589G>A	ENST00000404801.1	-	4	1556	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G	ZNF792_ENST00000605484.1_Silent_p.G323G	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	390					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGCACTTCTGCCCGTATGAA	0.468																																					GBM(1;7 183 21053 22581 22847)	uc002nxh.1																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12						c.(1168-1170)ggC>ggT		Homo sapiens zinc finger protein 792 (ZNF792), mRNA.							49.0	45.0	47.0					19																	35449589		2203	4300	6503	SO:0001819	synonymous_variant	126375				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35449589G>A	AK095770	CCDS12440.2	19q13.11	2013-01-08			ENSG00000180884	ENSG00000180884		"""Zinc fingers, C2H2-type"", ""-"""	24751	protein-coding gene	gene with protein product						8889548	Standard	NM_175872		Approved	FLJ38451	uc002nxh.1	Q3KQV3	OTTHUMG00000150339	ENST00000404801.1:c.1170C>T	19.37:g.35449589G>A							p.G390G	NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0849)		3	1557	-	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		390					B4E333|Q495L1|Q495L3|Q8N932	Silent	SNP	ENST00000404801.1	37	c.1170C>T	CCDS12440.2																																																																																				0.468	ZNF792-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317673.1	NM_175872	
FCGBP	8857	broad.mit.edu	37	19	40360855	40360855	+	Splice_Site	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:40360855C>A	ENST00000221347.6	-	33	15560		c.e33+1			NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein							extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCCTACTCACCGGCAAGTAT	0.577																																						uc002omp.4																			0				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.e33+1		Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.							52.0	52.0	52.0					19																	40360855		2203	4300	6503	SO:0001630	splice_region_variant	8857					extracellular region	protein binding	g.chr19:40360855C>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15552+1G>T	19.37:g.40360855C>A							p.P5184_splice	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		33	15560	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		5184			Cys-rich.		O95784	Splice_Site	SNP	ENST00000221347.6	37	c.15552_splice	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.157221	0.78114	.	.	ENSG00000090920	ENST00000221347	.	.	.	4.77	4.77	0.60923	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3345	0.74241	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FCGBP	45052695	0.999000	0.42202	1.000000	0.80357	0.947000	0.59692	4.968000	0.63728	2.492000	0.84095	0.563000	0.77884	.		0.577	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	Intron
C19orf48	84798	broad.mit.edu	37	19	51301380	51301380	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:51301380C>A	ENST00000598463.1	-	5	1424	c.326G>T	c.(325-327)aGa>aTa	p.R109I	C19orf48_ENST00000596655.1_Missense_Mutation_p.R109I|C19orf48_ENST00000391812.1_Missense_Mutation_p.R109I|SNORD88A_ENST00000408314.1_RNA|C19orf48_ENST00000345523.4_Missense_Mutation_p.R109I|C19orf48_ENST00000595794.1_5'Flank|SNORD88B_ENST00000408454.1_RNA			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	109										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCAGGATTCTGGCCTGCTT	0.627																																						uc002ptf.3																			0				endometrium(1)|kidney(1)|lung(1)|ovary(1)	4						c.(325-327)aGa>aTa		Homo sapiens chromosome 19 open reading frame 48 (C19orf48), mRNA.							87.0	89.0	88.0					19																	51301380		2203	4300	6503	SO:0001583	missense	84798							g.chr19:51301380C>A	BC037227	CCDS12803.1	19q13.33	2012-10-26			ENSG00000167747	ENSG00000167747			29667	protein-coding gene	gene with protein product	"""multidrug resistance-related protein"""					12452007	Standard	NM_001290154		Approved	MGC13170	uc002ptg.3	Q6RUI8		ENST00000598463.1:c.326G>T	19.37:g.51301380C>A	ENSP00000471463:p.Arg109Ile					C19orf48_uc002pte.3_Non-coding_Transcript|C19orf48_uc002ptg.3_Missense_Mutation_p.R109I|C19orf48_uc021uyh.1_Missense_Mutation_p.R109I	p.R109I	NM_199249	NP_954858	Q6RUI8	CS048_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)	4	1248	-		all_neural(266;0.057)	109						Missense_Mutation	SNP	ENST00000598463.1	37	c.326G>T	CCDS12803.1	.	.	.	.	.	.	.	.	.	.	c	4.207	0.037224	0.08148	.	.	ENSG00000167747	ENST00000391812;ENST00000345523	T;T	0.31247	1.5;1.5	2.03	-3.61	0.04556	.	.	.	.	.	T	0.16300	0.0392	N	0.14661	0.345	0.09310	N	1	P	0.42941	0.794	B	0.42916	0.402	T	0.14035	-1.0487	9	0.87932	D	0	.	3.7409	0.08530	0.0:0.2643:0.2068:0.5288	.	109	Q6RUI8	CS048_HUMAN	I	109	ENSP00000375688:R109I;ENSP00000301419:R109I	ENSP00000301419:R109I	R	-	2	0	C19orf48	55993192	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.942000	0.03921	-0.912000	0.03837	-0.367000	0.07326	AGA		0.627	C19orf48-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464107.1	NM_032712	
SIGLEC8	27181	broad.mit.edu	37	19	51960480	51960480	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:51960480G>C	ENST00000321424.3	-	3	805	c.739C>G	c.(739-741)Cct>Gct	p.P247A	SIGLEC8_ENST00000597352.1_5'UTR|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P154A|SIGLEC8_ENST00000430817.1_Intron	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	247	Ig-like C2-type 2.				cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AAGTTCCAAGGAGGGTCTGGG	0.557																																						uc002pwt.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50						c.(739-741)Cct>Gct		Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.							92.0	88.0	89.0					19																	51960480		2203	4300	6503	SO:0001583	missense	27181				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity	g.chr19:51960480G>C	AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.739C>G	19.37:g.51960480G>C	ENSP00000321077:p.Pro247Ala					SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.P154A	p.P247A	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)	2	806	-		all_neural(266;0.0199)	247			Ig-like C2-type 2.		Q7Z728	Missense_Mutation	SNP	ENST00000321424.3	37	c.739C>G	CCDS33086.1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.889157	0.33348	.	.	ENSG00000105366	ENST00000321424;ENST00000340550	T;T	0.80480	-0.72;-1.38	2.14	2.14	0.27477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.32935	U	0.005465	D	0.88336	0.6409	M	0.89534	3.04	0.09310	N	1	D;P	0.54397	0.966;0.739	D;P	0.63033	0.91;0.574	T	0.78448	-0.2200	10	0.72032	D	0.01	.	7.8866	0.29653	0.0:0.0:1.0:0.0	.	154;247	Q9NYZ4-2;Q9NYZ4	.;SIGL8_HUMAN	A	247;154	ENSP00000321077:P247A;ENSP00000339448:P154A	ENSP00000321077:P247A	P	-	1	0	SIGLEC8	56652292	0.010000	0.17322	0.003000	0.11579	0.070000	0.16714	1.574000	0.36482	1.496000	0.48567	0.508000	0.49915	CCT		0.557	SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
SNTG2	54221	broad.mit.edu	37	2	1271233	1271233	+	Missense_Mutation	SNP	G	G	A	rs374477415		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:1271233G>A	ENST00000308624.5	+	14	1303	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	SNTG2_ENST00000407292.1_Missense_Mutation_p.V265M	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	392	PH.				central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTTCAGCATCGTGGCCGGCCA	0.522																																						uc002qwq.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(1174-1176)Gtg>Atg		Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.		G	MET/VAL	0,3890		0,0,1945	51.0	50.0	51.0		1174	-9.2	0.0	2		51	1,8265		0,1,4132	no	missense	SNTG2	NM_018968.3	21	0,1,6077	AA,AG,GG		0.0121,0.0,0.0082	benign	392/540	1271233	1,12155	1945	4133	6078	SO:0001583	missense	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1271233G>A	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.1174G>A	2.37:g.1271233G>A	ENSP00000311837:p.Val392Met					SNTG2_uc010ewi.3_Missense_Mutation_p.V265M	p.V392M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	13	1303	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	392			PH.		Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	c.1174G>A	CCDS46220.1	.	.	.	.	.	.	.	.	.	.	G	1.882	-0.457610	0.04508	0.0	1.21E-4	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.68765	1.42;-0.35	4.61	-9.23	0.00672	Pleckstrin homology domain (1);	0.606658	0.17376	N	0.176493	T	0.26122	0.0637	N	0.00926	-1.1	0.09310	N	1	B;B	0.26258	0.145;0.019	B;B	0.13407	0.009;0.004	T	0.30119	-0.9989	10	0.42905	T	0.14	.	10.2437	0.43328	0.1853:0.5442:0.2705:0.0	.	265;392	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	M	392;265	ENSP00000311837:V392M;ENSP00000385020:V265M	ENSP00000311837:V392M	V	+	1	0	SNTG2	1253814	0.058000	0.20735	0.000000	0.03702	0.000000	0.00434	0.056000	0.14256	-2.397000	0.00581	-2.048000	0.00412	GTG		0.522	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968	
STRN	6801	broad.mit.edu	37	2	37152302	37152302	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:37152302T>C	ENST00000263918.4	-	2	292	c.284A>G	c.(283-285)aAg>aGg	p.K95R	STRN_ENST00000379213.2_Missense_Mutation_p.K83R	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	95					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				AAGATCCTTCTTCAAATTTTC	0.368																																						uc002rpn.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33						c.(283-285)aAg>aGg		Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.							72.0	76.0	74.0					2																	37152302		2203	4298	6501	SO:0001583	missense	6801				dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	g.chr2:37152302T>C	AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.284A>G	2.37:g.37152302T>C	ENSP00000263918:p.Lys95Arg					STRN_uc010ezx.3_Missense_Mutation_p.K95R	p.K95R	NM_003162	NP_003153	O43815	STRN_HUMAN			1	293	-		Ovarian(717;0.0129)|all_hematologic(82;0.21)	95					Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	ENST00000263918.4	37	c.284A>G	CCDS1784.1	.	.	.	.	.	.	.	.	.	.	T	27.2	4.806048	0.90623	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.72394	-0.65;-0.61	5.04	5.04	0.67666	Striatin, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	M	0.65975	2.015	0.58432	D	0.999999	D;D	0.58620	0.961;0.983	D;D	0.75484	0.939;0.986	T	0.82041	-0.0654	10	0.45353	T	0.12	-15.7916	13.7519	0.62912	0.0:0.0:0.0:1.0	.	83;95	O43815-2;O43815	.;STRN_HUMAN	R	95;70;83	ENSP00000263918:K95R;ENSP00000368513:K83R	ENSP00000263918:K95R	K	-	2	0	STRN	37005806	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	1.875000	0.54330	0.528000	0.53228	AAG		0.368	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218568.1		
SOCS5	9655	broad.mit.edu	37	2	46987001	46987001	+	Silent	SNP	G	G	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:46987001G>T	ENST00000306503.5	+	2	1504	c.1332G>T	c.(1330-1332)ccG>ccT	p.P444P	SOCS5_ENST00000394861.2_Silent_p.P444P	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	444	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cell growth (GO:0016049)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|JAK-STAT cascade (GO:0007259)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of signal transduction (GO:0009968)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)		receptor tyrosine kinase binding (GO:0030971)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCCATGACCCGTGTGTATTTC	0.443																																						uc021vgx.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22						c.(1330-1332)ccG>ccT		Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.							131.0	126.0	128.0					2																	46987001		2203	4300	6503	SO:0001819	synonymous_variant	9655				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth			g.chr2:46987001G>T	AB014571	CCDS1830.1	2p21	2013-02-14			ENSG00000171150	ENSG00000171150		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16852	protein-coding gene	gene with protein product		607094				9734811, 11230166	Standard	NM_014011		Approved	KIAA0671, SOCS-5, CIS6, CISH6, Cish5	uc002rvf.3	O75159	OTTHUMG00000128852	ENST00000306503.5:c.1332G>T	2.37:g.46987001G>T						SOCS5_uc002rvf.3_Silent_p.P444P|SOCS5_uc002rvg.3_Silent_p.P444P	p.P444P	NM_144949	NP_659198	O75159	SOCS5_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.114)		0	1332	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	444			SH2.		Q53SD4|Q8IYZ4	Silent	SNP	ENST00000306503.5	37	c.1332G>T	CCDS1830.1																																																																																				0.443	SOCS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250791.2		
IL1R1	3554	broad.mit.edu	37	2	102793083	102793083	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:102793083C>T	ENST00000410023.1	+	12	1892	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	IL1R1_ENST00000409929.1_Missense_Mutation_p.S494F|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000233946.3_Missense_Mutation_p.S525F|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	525	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GGACCACAGTCTGCAAAGACA	0.468																																						uc002tbq.3																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(1573-1575)tCt>tTt		Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	Anakinra(DB00026)						62.0	60.0	61.0					2																	102793083		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102793083C>T	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1574C>T	2.37:g.102793083C>T	ENSP00000386380:p.Ser525Phe					IL1R1_uc010fix.3_Missense_Mutation_p.S494F|IL1R1_uc002tbr.3_Missense_Mutation_p.S525F	p.S525F	NM_000877	NP_000868	P14778	IL1R1_HUMAN			11	1892	+			525			TIR.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.1574C>T	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497332	0.64186	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	T;T;T	0.09538	2.97;2.97;2.97	5.82	4.95	0.65309	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.579168	0.19252	N	0.118885	T	0.33990	0.0882	M	0.83384	2.64	0.36811	D	0.885865	D;D	0.76494	0.999;0.997	D;D	0.76071	0.987;0.973	T	0.40553	-0.9557	10	0.72032	D	0.01	.	10.2714	0.43485	0.0:0.8492:0.0:0.1508	.	494;525	B8ZZW4;P14778	.;IL1R1_HUMAN	F	494;525;525	ENSP00000386776:S494F;ENSP00000386380:S525F;ENSP00000233946:S525F	ENSP00000233946:S525F	S	+	2	0	IL1R1	102159515	0.380000	0.25131	0.455000	0.27031	0.868000	0.49771	2.825000	0.48096	1.460000	0.47911	0.557000	0.71058	TCT		0.468	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1		
LCT	3938	broad.mit.edu	37	2	136558294	136558294	+	Silent	SNP	G	G	A	rs374549487	byFrequency	TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:136558294G>A	ENST00000264162.2	-	12	4759	c.4749C>T	c.(4747-4749)aaC>aaT	p.N1583N		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1583	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	GGTACACATCGTTGTACAGAT	0.537													G|||	2	0.000399361	0.0	0.0	5008	,	,		19730	0.0		0.0	False		,,,				2504	0.002					uc002tuu.1																			0				breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124						c.(4747-4749)aaC>aaT		Homo sapiens lactase (LCT), mRNA.		G		0,4406		0,0,2203	95.0	87.0	89.0		4749	-9.6	0.0	2		89	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	LCT	NM_002299.2		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		1583/1928	136558294	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136558294G>A	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.4749C>T	2.37:g.136558294G>A							p.N1583N	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	11	4760	-			1583			4 X approximate repeats.		Q4ZG58	Silent	SNP	ENST00000264162.2	37	c.4749C>T	CCDS2178.1																																																																																				0.537	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299	
ARHGAP15	55843	broad.mit.edu	37	2	144381721	144381721	+	Silent	SNP	C	C	T	rs138120208	byFrequency	TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:144381721C>T	ENST00000295095.6	+	12	1190	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D		NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	341	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGT	0.448																																						uc002tvm.4																			0				endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34						c.(1021-1023)gaC>gaT		Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.		C		0,4406		0,0,2203	89.0	85.0	86.0		1023	4.4	1.0	2	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARHGAP15	NM_018460.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		341/476	144381721	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	55843				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	g.chr2:144381721C>T	AY219338	CCDS2184.1	2q22.2-q22.3	2013-01-10			ENSG00000075884	ENSG00000075884		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	21030	protein-coding gene	gene with protein product		610578				12650940, 11042152	Standard	NM_018460		Approved	BM046	uc002tvm.4	Q53QZ3	OTTHUMG00000131845	ENST00000295095.6:c.1023C>T	2.37:g.144381721C>T						ARHGAP15_uc002tvn.3_Silent_p.D107D	p.D341D	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.151)	11	1174	+			341			Rho-GAP.		Q53R36|Q53RD7|Q53RT6|Q53SX9|Q584N9|Q6PJE6|Q86WP1|Q8IXX1|Q9NRL8|Q9NZ77|Q9NZ91	Silent	SNP	ENST00000295095.6	37	c.1023C>T	CCDS2184.1																																																																																				0.448	ARHGAP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254793.2	NM_018460	
TTN	7273	broad.mit.edu	37	2	179647001	179647001	+	Silent	SNP	G	G	A	rs141768043		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:179647001G>A	ENST00000591111.1	-	20	3542	c.3318C>T	c.(3316-3318)ggC>ggT	p.G1106G	TTN_ENST00000460472.2_Silent_p.G1060G|TTN_ENST00000359218.5_Silent_p.G1060G|TTN_ENST00000342992.6_Silent_p.G1106G|TTN_ENST00000342175.6_Silent_p.G1060G|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000589042.1_Silent_p.G1106G|TTN_ENST00000360870.5_Silent_p.G1106G			Q8WZ42	TITIN_HUMAN	titin	33325	Ig-like 4.				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)			TTGGGTTGCCGCCAACTTGGC	0.488																																						uc021vsy.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.(3316-3318)ggC>ggT		Homo sapiens titin (TTN), transcript variant N2-A, mRNA.		G	,,,,	3,4403	6.2+/-15.9	0,3,2200	83.0	81.0	81.0		3180,3318,3318,3180,3180	-11.2	0.1	2	dbSNP_134	81	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,,,	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	,,,,	1060/26927,1106/33424,1106/5605,1060/27052,1060/27119	179647001	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179647001G>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.3318C>T	2.37:g.179647001G>A						TTN_uc021vsz.1_Silent_p.G1060G|TTN_uc021vta.1_Silent_p.G1060G|TTN_uc021vtb.1_Silent_p.G1060G|TTN_uc002unb.2_Silent_p.G1106G	p.G1106G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		19	3543	-			1106			Ig-like 4.		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.3318C>T																																																																																					0.488	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
FRG1B	284802	broad.mit.edu	37	20	29624070	29624070	+	Missense_Mutation	SNP	G	G	A	rs113131305	byFrequency	TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr20:29624070G>A	ENST00000278882.3	+	4	474	c.94G>A	c.(94-96)Gct>Act	p.A32T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A37T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A32T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	32								p.A32T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GCAGTTTATGGCTGTCAAATT	0.279													.|||	3	0.000599042	0.0	0.0	5008	,	,		18542	0.001		0.002	False		,,,				2504	0.0					uc010ztl.1																			2	Substitution - Missense(2)	p.A32T(2)|p.R2M(1)	kidney(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(4-6)Gct>Act		Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.																																				SO:0001583	missense	284802							g.chr20:29624070G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.94G>A	20.37:g.29624070G>A	ENSP00000278882:p.Ala32Thr					FRG1B_uc002wvm.1_Intron|FRG1B_uc010ztj.1_Intron|FRG1B_uc010gdr.1_Intron|FRG1B_uc010ztk.1_Intron	p.A2T							0	36	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.4G>A		.	.	.	.	.	.	.	.	.	.	g	13.90	2.374450	0.42105	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.48522	0.81	1.91	1.91	0.25777	.	0.171467	0.50627	D	0.000119	T	0.51601	0.1684	.	.	.	0.43304	D	0.995305	P	0.35894	0.526	P	0.47470	0.548	T	0.56300	-0.8002	9	0.56958	D	0.05	.	9.8627	0.41125	0.0:0.0:1.0:0.0	.	37	F5H5R5	.	T	32;37;32	ENSP00000408863:A37T	ENSP00000278882:A32T	A	+	1	0	FRG1B	28237731	1.000000	0.71417	0.999000	0.59377	0.324000	0.28378	7.759000	0.85235	1.383000	0.46405	0.184000	0.17185	GCT		0.279	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579	
ADRBK2	157	broad.mit.edu	37	22	26117315	26117315	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr22:26117315G>A	ENST00000324198.6	+	20	2048	c.1856G>A	c.(1855-1857)tGc>tAc	p.C619Y		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	619	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GACAAAAAATGCATTTTGTTC	0.274																																						uc003abx.4																			0				breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32						c.(1855-1857)tGc>tAc		Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	Adenosine triphosphate(DB00171)						70.0	81.0	77.0					22																	26117315		2203	4295	6498	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26117315G>A	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.1856G>A	22.37:g.26117315G>A	ENSP00000317578:p.Cys619Tyr					ADRBK2_uc003aby.4_Non-coding_Transcript	p.C619Y	NM_005160	NP_005151	P35626	ARBK2_HUMAN			19	2003	+			619			PH.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.1856G>A	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306049	0.81247	.	.	ENSG00000100077	ENST00000324198	T	0.75154	-0.91	5.68	5.68	0.88126	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	D	0.85048	0.5608	M	0.62723	1.935	0.80722	D	1	D	0.76494	0.999	D	0.73708	0.981	D	0.85876	0.1419	10	0.87932	D	0	-27.2752	18.7787	0.91922	0.0:0.0:1.0:0.0	.	619	P35626	ARBK2_HUMAN	Y	619	ENSP00000317578:C619Y	ENSP00000317578:C619Y	C	+	2	0	ADRBK2	24447315	1.000000	0.71417	0.989000	0.46669	0.977000	0.68977	8.968000	0.93407	2.680000	0.91292	0.655000	0.94253	TGC		0.274	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160	
DDX17	10521	broad.mit.edu	37	22	38883964	38883964	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr22:38883964T>C	ENST00000396821.3	-	12	1703	c.1604A>G	c.(1603-1605)aAa>aGa	p.K535R	DDX17_ENST00000381633.3_Missense_Mutation_p.K458R|DDX17_ENST00000432525.1_5'Flank|DDX17_ENST00000444597.1_5'UTR	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	535	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of skeletal muscle cell differentiation (GO:2001014)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA helicase activity (GO:0003724)|RNA-dependent ATPase activity (GO:0008186)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTCCAGCACTTTGATAAGCTC	0.547																																					Ovarian(55;1085 1454 6392 21425)	uc003avy.4																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25						c.(1603-1605)aAa>aGa		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.							155.0	137.0	143.0					22																	38883964		2203	4300	6503	SO:0001583	missense	10521				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity	g.chr22:38883964T>C	U59321	CCDS33646.1, CCDS46706.1	22q13.1	2012-02-23	2012-02-23		ENSG00000100201	ENSG00000100201		"""DEAD-boxes"""	2740	protein-coding gene	gene with protein product		608469	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 17 (72kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 17"""			8871553, 17226766	Standard	NM_006386		Approved	P72	uc003avy.4	Q92841	OTTHUMG00000151136	ENST00000396821.3:c.1604A>G	22.37:g.38883964T>C	ENSP00000380033:p.Lys535Arg					DDX17_uc003avw.4_5'UTR|DDX17_uc003avx.4_Missense_Mutation_p.K535R	p.K535R	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN			11	1707	-	Melanoma(58;0.0286)		456					B1AHM0|Q69YT1|Q6ICD6	Missense_Mutation	SNP	ENST00000396821.3	37	c.1604A>G	CCDS46706.1	.	.	.	.	.	.	.	.	.	.	T	13.11	2.140651	0.37825	.	.	ENSG00000100201	ENST00000396821;ENST00000381633;ENST00000403230;ENST00000404499	T;T;T	0.28895	1.6;1.6;1.59	5.25	5.25	0.73442	.	0.044586	0.85682	D	0.000000	T	0.27384	0.0672	L	0.37697	1.125	0.80722	D	1	B;B	0.18968	0.019;0.032	B;B	0.19148	0.011;0.024	T	0.03268	-1.1054	10	0.41790	T	0.15	-16.4607	15.4641	0.75384	0.0:0.0:0.0:1.0	.	537;535	Q59F66;Q92841-4	.;.	R	535;458;535;537	ENSP00000380033:K535R;ENSP00000371046:K458R;ENSP00000385536:K535R	ENSP00000371046:K458R	K	-	2	0	DDX17	37213910	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.121000	0.50438	2.105000	0.64084	0.533000	0.62120	AAA		0.547	DDX17-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321476.2	NM_030881	
LRIG1	26018	broad.mit.edu	37	3	66432740	66432740	+	Missense_Mutation	SNP	C	C	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:66432740C>A	ENST00000273261.3	-	16	3098	c.2574G>T	c.(2572-2574)agG>agT	p.R858S	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000383703.3_Missense_Mutation_p.R835S|LRIG1_ENST00000496559.2_5'UTR	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	858					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CACCCTCGGTCCTGACCACGG	0.552																																						uc003dmx.3																			0				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42						c.(2572-2574)agG>agT		Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.							147.0	151.0	149.0					3																	66432740		2203	4300	6503	SO:0001583	missense	26018					integral to membrane		g.chr3:66432740C>A	AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2574G>T	3.37:g.66432740C>A	ENSP00000273261:p.Arg858Ser					SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.R478S|LRIG1_uc003dmw.3_Missense_Mutation_p.R524S|LRIG1_uc010hnz.3_Missense_Mutation_p.R574S|LRIG1_uc010hoa.3_Missense_Mutation_p.R835S	p.R858S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00047)	15	2588	-		Lung NSC(201;0.0101)	858					Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	ENST00000273261.3	37	c.2574G>T	CCDS33783.1	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058905	0.36277	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.64803	-0.12;-0.11	5.65	3.87	0.44632	.	0.105455	0.64402	D	0.000005	T	0.51907	0.1702	L	0.28556	0.865	0.36631	D	0.87627	D;B;B	0.58268	0.982;0.059;0.059	P;B;B	0.52598	0.703;0.017;0.028	T	0.56414	-0.7983	10	0.05620	T	0.96	.	8.6865	0.34240	0.0:0.7136:0.0:0.2864	.	835;858;858	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	S	858;835;761	ENSP00000273261:R858S;ENSP00000373208:R835S	ENSP00000273261:R858S	R	-	3	2	LRIG1	66515430	0.842000	0.29525	0.983000	0.44433	0.567000	0.35839	1.320000	0.33666	0.748000	0.32831	0.655000	0.94253	AGG		0.552	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351930.1	NM_015541	
STXBP5L	9515	broad.mit.edu	37	3	120957900	120957900	+	Missense_Mutation	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:120957900C>T	ENST00000273666.6	+	13	1538	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	STXBP5L_ENST00000497029.1_Missense_Mutation_p.P423S|STXBP5L_ENST00000471454.1_Missense_Mutation_p.P423S|STXBP5L_ENST00000472879.1_Missense_Mutation_p.P423S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.P423S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	423					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGATTGTCCTCCGGATTTGAT	0.308																																						uc003eec.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1267-1269)Ccg>Tcg		Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.							55.0	52.0	53.0					3																	120957900		1839	4094	5933	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120957900C>T	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1267C>T	3.37:g.120957900C>T	ENSP00000273666:p.Pro423Ser					STXBP5L_uc011bji.2_Missense_Mutation_p.P423S	p.P423S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	12	1407	+			423					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1267C>T	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	0.970	-0.700385	0.03279	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.34072	2.06;2.06;1.87;1.38;1.87;2.07	4.97	4.09	0.47781	WD40 repeat-like-containing domain (2);	0.000000	0.85682	D	0.000000	T	0.32882	0.0844	N	0.03253	-0.375	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.16541	-1.0399	10	0.08837	T	0.75	-23.8828	15.5341	0.75990	0.0:0.8616:0.1384:0.0	.	423;423	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	S	423	ENSP00000273666:P423S;ENSP00000420019:P423S;ENSP00000419627:P423S;ENSP00000420287:P423S;ENSP00000420666:P423S;ENSP00000420167:P423S	ENSP00000273666:P423S	P	+	1	0	STXBP5L	122440590	1.000000	0.71417	1.000000	0.80357	0.045000	0.14185	3.664000	0.54525	1.310000	0.45006	-0.165000	0.13383	CCG		0.308	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3		
SLC25A36	55186	broad.mit.edu	37	3	140692641	140692641	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:140692641G>A	ENST00000324194.6	+	6	704	c.536G>A	c.(535-537)gGc>gAc	p.G179D	SLC25A36_ENST00000446041.2_Missense_Mutation_p.G179D|SLC25A36_ENST00000453248.2_Missense_Mutation_p.G153D|RP11-231L11.3_ENST00000513802.1_RNA			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	179					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTTTATAGGGGCATGTCTGCT	0.368																																						uc003etr.2																			0				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						c.(535-537)gGc>gAc		Homo sapiens solute carrier family 25, member 36 (SLC25A36), transcript variant 1, mRNA.							72.0	71.0	71.0					3																	140692641		2203	4300	6503	SO:0001583	missense	55186				response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	g.chr3:140692641G>A	AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	ENST00000324194.6:c.536G>A	3.37:g.140692641G>A	ENSP00000320688:p.Gly179Asp					SLC25A36_uc003ets.2_Missense_Mutation_p.G179D|SLC25A36_uc003etq.2_Missense_Mutation_p.G22D|SLC25A36_uc011bmz.1_Missense_Mutation_p.G153D	p.G179D	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN			5	771	+			179					A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	ENST00000324194.6	37	c.536G>A	CCDS46927.1	.	.	.	.	.	.	.	.	.	.	G	30	5.054610	0.93793	.	.	ENSG00000114120	ENST00000446041;ENST00000324194;ENST00000453248	D;D;D	0.95821	-3.82;-3.82;-3.82	6.01	6.01	0.97437	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.98998	0.9658	H	0.99642	4.675	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	0.98991	1.0808	10	0.87932	D	0	-20.0918	18.015	0.89236	0.0:0.0:1.0:0.0	.	153;179;179	B4DL01;Q96CQ1-3;Q96CQ1	.;.;S2536_HUMAN	D	179;179;153	ENSP00000401938:G179D;ENSP00000320688:G179D;ENSP00000391521:G153D	ENSP00000320688:G179D	G	+	2	0	SLC25A36	142175331	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GGC		0.368	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000359929.1	NM_018155	
BOD1L1	259282	broad.mit.edu	37	4	13603517	13603517	+	Missense_Mutation	SNP	T	T	G	rs200927512		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr4:13603517T>G	ENST00000040738.5	-	10	5142	c.5007A>C	c.(5005-5007)agA>agC	p.R1669S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1669						nucleus (GO:0005634)	DNA binding (GO:0003677)										TTTCTGAGTCTCTACTTAAAG	0.373																																						uc003gmz.1																			0											c.(5005-5007)agA>agC		Homo sapiens biorientation of chromosomes in cell division 1-like (BOD1L), mRNA.							194.0	215.0	208.0					4																	13603517		2203	4300	6503	SO:0001583	missense	259282						DNA binding	g.chr4:13603517T>G	AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5007A>C	4.37:g.13603517T>G	ENSP00000040738:p.Arg1669Ser					BOD1L1_uc010idr.1_Missense_Mutation_p.R1006S	p.R1669S	NM_148894	NP_683692	Q8NFC6	BOD1L_HUMAN			9	5124	-			1669					Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	ENST00000040738.5	37	c.5007A>C	CCDS3411.2	.	.	.	.	.	.	.	.	.	.	T	6.958	0.546578	0.13312	.	.	ENSG00000038219	ENST00000040738	T	0.07327	3.2	4.8	0.751	0.18392	.	0.766086	0.11848	N	0.523601	T	0.04588	0.0125	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.46938	-0.9155	10	0.15952	T	0.53	-5.0429	3.8442	0.08928	0.3765:0.1475:0.0:0.476	.	1669	Q8NFC6	BOD1L_HUMAN	S	1669	ENSP00000040738:R1669S	ENSP00000040738:R1669S	R	-	3	2	BOD1L	13212615	0.061000	0.20836	0.023000	0.16930	0.328000	0.28507	0.218000	0.17622	-0.028000	0.13850	0.454000	0.30748	AGA		0.373	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
PAQR3	152559	broad.mit.edu	37	4	79856373	79856373	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr4:79856373A>G	ENST00000512733.1	-	2	463	c.250T>C	c.(250-252)Ttc>Ctc	p.F84L	PAQR3_ENST00000380645.4_Missense_Mutation_p.F84L|PAQR3_ENST00000295462.3_Intron	NM_001040202.1	NP_001035292.1	Q6TCH7	PAQR3_HUMAN	progestin and adipoQ receptor family member III	84					negative regulation of MAP kinase activity (GO:0043407)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein phosphorylation (GO:0001933)|protein localization to Golgi apparatus (GO:0034067)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCCAGGGTGAAGAAGAGAAAG	0.368																																						uc003hlp.1																			0				breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						c.(250-252)Ttc>Ctc		Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.							98.0	99.0	99.0					4																	79856373		2203	4300	6503	SO:0001583	missense	152559					Golgi membrane|integral to membrane	receptor activity	g.chr4:79856373A>G	AK055774	CCDS34020.1	4q21	2008-02-05				ENSG00000163291			30130	protein-coding gene	gene with protein product		614577				16044242	Standard	XM_006714104		Approved		uc003hlp.1	Q6TCH7		ENST00000512733.1:c.250T>C	4.37:g.79856373A>G	ENSP00000421981:p.Phe84Leu					PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Intron|PAQR3_uc003hlq.1_Intron	p.F84L	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN			1	454	-			84					A8K5B7|B3KP59|Q6PIQ1|Q86X05|Q8NCP9	Missense_Mutation	SNP	ENST00000512733.1	37	c.250T>C	CCDS34020.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.881543	0.51908	.	.	ENSG00000163291	ENST00000512733;ENST00000380645	T;T	0.25414	1.8;1.8	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.17746	0.0426	N	0.16233	0.39	0.80722	D	1	B	0.25486	0.127	B	0.35039	0.194	T	0.03249	-1.1056	10	0.05833	T	0.94	-3.7446	14.9336	0.70935	1.0:0.0:0.0:0.0	.	84	Q6TCH7	PAQR3_HUMAN	L	84	ENSP00000421981:F84L;ENSP00000370019:F84L	ENSP00000344203:F84L	F	-	1	0	PAQR3	80075397	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.322000	0.79097	2.020000	0.59435	0.460000	0.39030	TTC		0.368	PAQR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363442.1	NM_177453	
HNRNPA1P12	644037	broad.mit.edu	37	5	79655243	79655243	+	IGR	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:79655243G>A								SPZ1 (37582 upstream) : RNU6-211P (6301 downstream)																							ccacctccacgaccaccacca	0.517																																																									0																																																	SO:0001628	intergenic_variant	644037							g.chr5:79655243G>A																													5.37:g.79655243G>A						CRSP8P (7458 upstream) : ZFYVE16 (48595 downstream)																			Missense_Mutation	SNP		37																																																																																					0	0.517								
APC	324	broad.mit.edu	37	5	112175591	112175591	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:112175591A>G	ENST00000457016.1	+	16	4680	c.4300A>G	c.(4300-4302)Agc>Ggc	p.S1434G	APC_ENST00000508376.2_Missense_Mutation_p.S1434G|APC_ENST00000257430.4_Missense_Mutation_p.S1434G|CTC-554D6.1_ENST00000520401.1_Intron			P25054	APC_HUMAN	adenomatous polyposis coli	1434	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.P1424fs*19(1)|p.K1192fs*3(1)|p.?(1)|p.P1432fs*35(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CATGCCACCAAGCAGAAGTAA	0.483		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	uc003kpz.4		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		4	Deletion - Frameshift(3)|Unknown(1)	p.S1434I(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.?(1)|p.P1432fs*35(1)	large_intestine(2)|soft_tissue(1)|skin(1)	NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(4300-4302)Agc>Ggc		Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.							113.0	101.0	105.0					5																	112175591		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112175591A>G	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4300A>G	5.37:g.112175591A>G	ENSP00000413133:p.Ser1434Gly	TSP Lung(16;0.13)				APC_uc011cvt.2_Missense_Mutation_p.S1416G|APC_uc003kpy.4_Missense_Mutation_p.S1434G|APC_uc010jbz.3_Missense_Mutation_p.S1151G|APC_uc010jca.3_Missense_Mutation_p.S734G	p.S1434G	NM_001127510	NP_001120982	P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	16	4493	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	1434			Ser-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.4300A>G	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.680567	0.68042	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.95853	-3.83;-3.83;-3.83	6.07	6.07	0.98685	.	0.073355	0.85682	D	0.000000	D	0.94295	0.8167	L	0.57536	1.79	0.47245	D	0.999365	P;P	0.50443	0.935;0.935	P;P	0.45753	0.492;0.492	D	0.93409	0.6767	9	.	.	.	-12.6444	12.8223	0.57700	0.8778:0.0:0.0:0.1222	.	1436;1434	Q4LE70;P25054	.;APC_HUMAN	G	1434	ENSP00000413133:S1434G;ENSP00000257430:S1434G;ENSP00000427089:S1434G	.	S	+	1	0	APC	112203490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.326000	0.78906	0.533000	0.62120	AGC		0.483	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
PCDHGA8	9708	broad.mit.edu	37	5	140773167	140773167	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:140773167A>G	ENST00000398604.2	+	1	787	c.787A>G	c.(787-789)Act>Gct	p.T263A	PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	263	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCTGCTTACTGTAACAGC	0.473																																						uc003lkd.2																			0				breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35						c.(787-789)Act>Gct		Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.							72.0	77.0	75.0					5																	140773167		1895	4123	6018	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140773167A>G	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.787A>G	5.37:g.140773167A>G	ENSP00000381605:p.Thr263Ala					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.T263A|PCDHGC5_uc003lkc.2_Intron	p.T263A	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1685	+			263			Cadherin 3.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.787A>G	CCDS47291.1	.	.	.	.	.	.	.	.	.	.	.	7.419	0.636333	0.14386	.	.	ENSG00000253767	ENST00000398604	T	0.54071	0.59	5.41	4.17	0.49024	Cadherin (4);Cadherin-like (1);	0.000000	0.31936	U	0.006833	T	0.45478	0.1344	L	0.60455	1.87	0.09310	N	1	B;B	0.19331	0.011;0.035	B;B	0.21151	0.033;0.029	T	0.38090	-0.9677	10	0.45353	T	0.12	.	7.2708	0.26256	0.7071:0.1494:0.0:0.1435	.	263;263	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	A	263	ENSP00000381605:T263A	ENSP00000381605:T263A	T	+	1	0	PCDHGA8	140753351	0.000000	0.05858	0.999000	0.59377	0.776000	0.43924	1.397000	0.34543	2.064000	0.61679	0.533000	0.62120	ACT		0.473	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
SPRY4	81848	broad.mit.edu	37	5	141694230	141694230	+	Silent	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:141694230G>A	ENST00000434127.2	-	2	687	c.444C>T	c.(442-444)gtC>gtT	p.V148V	SPRY4_ENST00000503582.1_5'Flank|SPRY4_ENST00000344120.4_Silent_p.V171V	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	148					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGGGTGGGACCGCCGGGC	0.652									Testicular Cancer, Familial Clustering of																													uc010jgi.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18						c.(511-513)gtC>gtT		Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.							47.0	52.0	50.0					5																	141694230		2203	4300	6503	SO:0001819	synonymous_variant	81848	Testicular Cancer, Familial Clustering of	Familial Cancer Database		multicellular organismal development	cytoplasm|ruffle membrane	protein binding	g.chr5:141694230G>A	AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.444C>T	5.37:g.141694230G>A						SPRY4_uc003lml.2_Silent_p.V148V|SPRY4_uc021yet.1_Silent_p.V148V	p.V171V	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	754	-		all_hematologic(541;0.118)	148			Cys-rich.|SPR.		A4FVB2|A4FVB3|Q6QIX2|Q9C003	Silent	SNP	ENST00000434127.2	37	c.513C>T	CCDS47296.1																																																																																				0.652	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1		
HLA-DOA	3111	broad.mit.edu	37	6	32974898	32974898	+	Silent	SNP	G	G	A	rs570962980		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:32974898G>A	ENST00000229829.5	-	4	783	c.708C>T	c.(706-708)acC>acT	p.T236T	HLA-DOA_ENST00000495532.1_5'Flank|HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	236					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGATGAGGACGGTGCCCACGA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		16533	0.001		0.0	False		,,,				2504	0.0					uc003ocr.3																			0				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(706-708)acC>acT		Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.							60.0	64.0	63.0					6																	32974898		2203	4300	6503	SO:0001819	synonymous_variant	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32974898G>A	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.708C>T	6.37:g.32974898G>A						HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	p.T236T	NM_002119	NP_002110	P06340	DOA_HUMAN			3	784	-			236					Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Silent	SNP	ENST00000229829.5	37	c.708C>T	CCDS4763.1																																																																																				0.627	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119	
LRRC73	221424	broad.mit.edu	37	6	43475289	43475291	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:43475289_43475291delTCC	ENST00000372441.1	-	5	1683_1685	c.783_785delGGA	c.(781-786)gaggaa>gaa	p.261_262EE>E		NM_001012974.1	NP_001012992.1	Q5JTD7	LRC73_HUMAN	leucine rich repeat containing 73	261	Poly-Glu.																TCCTGCCACTTCCTCCTCCTCCT	0.631																																						uc003ovk.1																			0											c.(781-786)gaggaa>gaa		Homo sapiens leucine rich repeat containing 73 (LRRC73), mRNA.				11,4155		1,9,2073						2.1	1.0			40	52,8132		7,38,4047	no	coding	C6orf154	NM_001012974.1		8,47,6120	A1A1,A1R,RR		0.6354,0.264,0.5101				63,12287				SO:0001651	inframe_deletion	221424							g.chr6:43475289_43475291delTCC		CCDS34456.1	6p21.1	2011-11-25	2011-11-25	2011-11-25	ENSG00000204052	ENSG00000204052			21375	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 154"""	C6orf154			Standard	NM_001012974		Approved	dJ337H4.2	uc003ovk.2	Q5JTD7	OTTHUMG00000014737	ENST00000372441.1:c.783_785delGGA	6.37:g.43475298_43475300delTCC	ENSP00000361518:p.Glu262del					LRRC73_uc003ovj.1_In_Frame_Del_p.70_71EE>E	p.261_262EE>E	NM_001012974	NP_001012992	Q5JTD7	CF154_HUMAN			4	1684_1686	-			261			Poly-Glu.			In_Frame_Del	DEL	ENST00000372441.1	37	c.783_785delGGA	CCDS34456.1																																																																																				0.631	LRRC73-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040635.1	NM_001012974	
PLA2G7	7941	broad.mit.edu	37	6	46678392	46678392	+	Silent	SNP	G	G	T	rs200057649	byFrequency	TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:46678392G>T	ENST00000274793.7	-	8	863	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	PLA2G7_ENST00000537365.1_Silent_p.R223R|PLA2G7_ENST00000541026.1_Silent_p.R96R|PLA2G7_ENST00000538237.1_Silent_p.R178R	NM_005084.3	NP_005075.3	Q13093	PAFA_HUMAN	phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma)	223					cellular protein metabolic process (GO:0044267)|lipid catabolic process (GO:0016042)|lipid oxidation (GO:0034440)|low-density lipoprotein particle remodeling (GO:0034374)|plasma lipoprotein particle oxidation (GO:0034441)|positive regulation of inflammatory response (GO:0050729)|positive regulation of monocyte chemotaxis (GO:0090026)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|low-density lipoprotein particle (GO:0034362)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)|calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GCTCTTTGCCGTACCTAATAT	0.323																																						uc010jzf.3																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14						c.(667-669)Cgg>Agg		Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.							79.0	79.0	79.0					6																	46678392		2203	4299	6502	SO:0001819	synonymous_variant	7941				inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding	g.chr6:46678392G>T	U20157	CCDS4917.1	6p21.2-p12	2008-09-19			ENSG00000146070	ENSG00000146070	3.1.1.4		9040	protein-coding gene	gene with protein product		601690				7700381, 8624782	Standard	NM_005084		Approved	PAFAH, LDL-PLA2	uc021zae.1	Q13093	OTTHUMG00000014789	ENST00000274793.7:c.667C>A	6.37:g.46678392G>T						PLA2G7_uc021zae.1_Silent_p.R223R|PLA2G7_uc011dwd.1_Silent_p.R178R|PLA2G7_uc011dwe.1_Silent_p.R96R	p.R223R	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Lung(136;0.192)		7	936	-			223					A5HTT5|Q15692|Q5VTT1|Q8IVA2	Silent	SNP	ENST00000274793.7	37	c.667C>A	CCDS4917.1																																																																																				0.323	PLA2G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040802.1		
QKI	9444	broad.mit.edu	37	6	163984582	163984585	+	Frame_Shift_Del	DEL	CAGA	CAGA	-			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:163984582_163984585delCAGA	ENST00000361752.3	+	6	1316_1319	c.765_768delCAGA	c.(763-768)atcagafs	p.IR255fs	QKI_ENST00000392127.2_Frame_Shift_Del_p.IR255fs|QKI_ENST00000453779.2_Frame_Shift_Del_p.IR255fs|QKI_ENST00000275262.7_Frame_Shift_Del_p.IR255fs|QKI_ENST00000361195.2_Frame_Shift_Del_p.IR247fs|QKI_ENST00000424802.3_Frame_Shift_Del_p.IR247fs	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	255					long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGCCTTTGATCAGACAAATACAGA	0.554																																						uc003qui.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(763-768)atcagafs		Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163984582_163984585delCAGA	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.765_768delCAGA	6.37:g.163984582_163984585delCAGA	ENSP00000355094:p.Ile255fs					QKI_uc003quj.3_Frame_Shift_Del_p.I247fs|QKI_uc003quh.3_Frame_Shift_Del_p.I247fs|QKI_uc003que.3_Frame_Shift_Del_p.I255fs|QKI_uc003quf.3_Frame_Shift_Del_p.I255fs|QKI_uc003qug.3_Frame_Shift_Del_p.I255fs	p.I255fs	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	5	1316_1319	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	255					Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Frame_Shift_Del	DEL	ENST00000361752.3	37	c.765_768delCAGA	CCDS5285.1																																																																																				0.554	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775	
EGFR	1956	broad.mit.edu	37	7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:55221821G>A	ENST00000275493.2	+	7	1042	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_ENST00000454757.2_Missense_Mutation_p.A236T|EGFR_ENST00000442591.1_Missense_Mutation_p.A289T|EGFR_ENST00000455089.1_Missense_Mutation_p.A244T|EGFR_ENST00000420316.2_Missense_Mutation_p.A289T|EGFR_ENST00000342916.3_Missense_Mutation_p.A289T|EGFR_ENST00000344576.2_Missense_Mutation_p.A289T	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												uc003tqk.3		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		3	Substitution - Missense(3)	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)	central_nervous_system(3)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(865-867)Gcc>Acc		Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						179.0	143.0	155.0					7																	55221821		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221821G>A		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.865G>A	7.37:g.55221821G>A	ENSP00000275493:p.Ala289Thr	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	p.A289T	NM_005228	NP_005219	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		6	1111	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		289					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.865G>A	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	36	5.802519	0.96960	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.000000	0.85682	D	0.000000	T	0.82093	0.4962	M	0.84683	2.71	0.80722	D	1	D;D;D;D;D	0.89917	0.985;0.992;1.0;1.0;0.999	P;D;D;D;D	0.74023	0.766;0.974;0.976;0.982;0.912	D	0.83919	0.0300	10	0.87932	D	0	.	18.9232	0.92534	0.0:0.0:1.0:0.0	.	244;289;289;289;289	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	T	244;289;159;289;289;289;289;236;83	ENSP00000415559:A244T;ENSP00000342376:A289T;ENSP00000345973:A289T;ENSP00000413843:A289T;ENSP00000275493:A289T;ENSP00000410031:A289T;ENSP00000395243:A236T	ENSP00000275493:A289T	A	+	1	0	EGFR	55189315	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.968000	0.87980	2.816000	0.96949	0.563000	0.77884	GCC		0.592	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
HYAL4	23553	broad.mit.edu	37	7	123508443	123508443	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:123508443G>A	ENST00000223026.4	+	3	754	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	HYAL4_ENST00000476325.1_Missense_Mutation_p.R39Q	NM_012269.2	NP_036401.2	Q2M3T9	HYAL4_HUMAN	hyaluronoglucosaminidase 4	39					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|glycosaminoglycan catabolic process (GO:0006027)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	hyalurononglucosaminidase activity (GO:0004415)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAACCTGCTCGACTTCCAATT	0.323																																						uc003vlc.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						c.(115-117)cGa>cAa		Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.							86.0	94.0	91.0					7																	123508443		2202	4300	6502	SO:0001583	missense	23553				fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity	g.chr7:123508443G>A	AF009010	CCDS5789.1	7q31.3	2010-01-14			ENSG00000106302	ENSG00000106302			5323	protein-coding gene	gene with protein product	"""hyaluronidase 4"""	604510				10493834	Standard	NM_012269		Approved		uc003vlc.3	Q2M3T9	OTTHUMG00000157349	ENST00000223026.4:c.116G>A	7.37:g.123508443G>A	ENSP00000223026:p.Arg39Gln					HYAL4_uc011knz.2_Missense_Mutation_p.R39Q	p.R39Q	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN			2	754	+			39					D0VXG1|Q9UL99|Q9Y6T9	Missense_Mutation	SNP	ENST00000223026.4	37	c.116G>A	CCDS5789.1	.	.	.	.	.	.	.	.	.	.	G	9.324	1.058921	0.19987	.	.	ENSG00000106302	ENST00000489978;ENST00000488323;ENST00000223026;ENST00000476325	T;T	0.17370	2.28;2.28	5.2	-0.302	0.12796	.	0.270258	0.35320	N	0.003291	T	0.10423	0.0255	L	0.31664	0.95	0.09310	N	0.999996	B;B	0.15930	0.001;0.015	B;B	0.15052	0.003;0.012	T	0.30679	-0.9970	10	0.25106	T	0.35	-22.68	9.3561	0.38168	0.5119:0.0:0.4881:0.0	.	39;39	F8WDH9;Q2M3T9	.;HYAL4_HUMAN	Q	39	ENSP00000223026:R39Q;ENSP00000417186:R39Q	ENSP00000223026:R39Q	R	+	2	0	HYAL4	123295679	0.002000	0.14202	0.645000	0.29479	0.948000	0.59901	0.474000	0.22148	0.046000	0.15833	0.655000	0.94253	CGA		0.323	HYAL4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348545.1	NM_012269	
PLXNA4	91584	broad.mit.edu	37	7	131859666	131859666	+	Silent	SNP	C	C	T			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:131859666C>T	ENST00000359827.3	-	21	4850	c.3888G>A	c.(3886-3888)ctG>ctA	p.L1296L	PLXNA4_ENST00000321063.4_Silent_p.L1296L			Q9HCM2	PLXA4_HUMAN	plexin A4	1296					anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCCGTCTGCAGCTCGGCAA	0.562																																						uc003vra.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						c.(3886-3888)ctG>ctA		Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.							73.0	81.0	79.0					7																	131859666		2173	4290	6463	SO:0001819	synonymous_variant	91584					integral to membrane|intracellular|plasma membrane		g.chr7:131859666C>T	AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3888G>A	7.37:g.131859666C>T							p.L1296L	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN			20	4117	-			1296					A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	c.3888G>A	CCDS43646.1																																																																																				0.562	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
CHRM2	1129	broad.mit.edu	37	7	136700324	136700324	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:136700324G>C	ENST00000445907.2	+	3	1240	c.712G>C	c.(712-714)Gga>Cga	p.G238R	hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.G238R|CHRM2_ENST00000320658.5_Missense_Mutation_p.G238R|CHRM2_ENST00000453373.1_Missense_Mutation_p.G238R|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.G238R|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.G238R|hsa-mir-490_ENST00000598184.1_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	238					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TCTGGTACAAGGAAGGATAGT	0.507																																						uc003vtf.1																			0				central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(712-714)Gga>Cga		Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)						50.0	48.0	49.0					7																	136700324		2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700324G>C		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.712G>C	7.37:g.136700324G>C	ENSP00000399745:p.Gly238Arg					CHRM2_uc003vtg.1_Missense_Mutation_p.G238R|CHRM2_uc003vti.1_Missense_Mutation_p.G238R|CHRM2_uc003vtm.1_Missense_Mutation_p.G238R|CHRM2_uc003vtj.1_Missense_Mutation_p.G238R|CHRM2_uc003vtk.1_Missense_Mutation_p.G238R|CHRM2_uc003vtl.1_Missense_Mutation_p.G238R|CHRM2_uc003vtn.1_Missense_Mutation_p.G238R|CHRM2_uc003vto.1_Missense_Mutation_p.G238R|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.G238R	p.G238R	NM_001006630	NP_001006633	P08172	ACM2_HUMAN			3	1335	+			238					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.712G>C	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	8.910	0.958492	0.18507	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.61274	0.12;0.12;0.12;0.12;0.12;0.12	5.4	5.4	0.78164	GPCR, rhodopsin-like superfamily (1);	0.480364	0.24178	N	0.040832	T	0.52041	0.1710	N	0.10874	0.06	0.46564	D	0.999108	P	0.37688	0.605	P	0.48334	0.574	T	0.51872	-0.8650	10	0.28530	T	0.3	-7.5336	19.1729	0.93588	0.0:0.0:1.0:0.0	.	238	P08172	ACM2_HUMAN	R	238	ENSP00000399745:G238R;ENSP00000415386:G238R;ENSP00000319984:G238R;ENSP00000380733:G238R;ENSP00000384937:G238R;ENSP00000384401:G238R	ENSP00000319984:G238R	G	+	1	0	CHRM2	136350864	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.737000	0.55060	2.541000	0.85698	0.655000	0.94253	GGA		0.507	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
TNKS	8658	broad.mit.edu	37	8	9620738	9620738	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:9620738A>G	ENST00000310430.6	+	22	3382	c.3356A>G	c.(3355-3357)cAg>cGg	p.Q1119R	TNKS_ENST00000518281.1_Missense_Mutation_p.Q882R	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1119	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAAGAATATCAGTCAGTGGAA	0.358																																						uc003wss.3																			0				NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49						c.(3355-3357)cAg>cGg		Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.							92.0	91.0	92.0					8																	9620738		2203	4299	6502	SO:0001583	missense	8658				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding	g.chr8:9620738A>G	AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3356A>G	8.37:g.9620738A>G	ENSP00000311579:p.Gln1119Arg					TNKS_uc011kww.2_Missense_Mutation_p.Q882R	p.Q1119R	NM_003747	NP_003738	O95271	TNKS1_HUMAN		COAD - Colon adenocarcinoma(149;0.0467)	21	3361	+			1119			PARP catalytic.		O95272|Q4G0F2	Missense_Mutation	SNP	ENST00000310430.6	37	c.3356A>G	CCDS5974.1	.	.	.	.	.	.	.	.	.	.	A	11.14	1.549804	0.27652	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.14144	2.53;2.53	6.17	6.17	0.99709	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.000000	0.85682	D	0.000000	T	0.19287	0.0463	N	0.25380	0.74	0.80722	D	1	P	0.35456	0.502	P	0.47118	0.538	T	0.05131	-1.0904	10	0.36615	T	0.2	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1119	O95271	TNKS1_HUMAN	R	1119;882	ENSP00000311579:Q1119R;ENSP00000429890:Q882R	ENSP00000311579:Q1119R	Q	+	2	0	TNKS	9658148	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	2.371000	0.80710	0.533000	0.62120	CAG		0.358	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1	NM_003747	
GSDMC	56169	broad.mit.edu	37	8	130762682	130762682	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:130762682T>C	ENST00000276708.4	-	11	1959	c.1078A>G	c.(1078-1080)Aac>Gac	p.N360D		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	360						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTCACCATGTTCATCAGGTCC	0.468																																						uc003ysr.3																			0				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						c.(1078-1080)Aac>Gac		Homo sapiens gasdermin C (GSDMC), mRNA.							108.0	95.0	99.0					8																	130762682		2203	4300	6503	SO:0001583	missense	56169					mitochondrion		g.chr8:130762682T>C	AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1078A>G	8.37:g.130762682T>C	ENSP00000276708:p.Asn360Asp						p.N360D	NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN			10	1960	-			360					Q5XKF3|Q6P494	Missense_Mutation	SNP	ENST00000276708.4	37	c.1078A>G	CCDS6360.1	.	.	.	.	.	.	.	.	.	.	T	0.194	-1.050941	0.01981	.	.	ENSG00000147697	ENST00000276708	T	0.20463	2.07	5.14	2.33	0.28932	.	0.549831	0.17553	N	0.170087	T	0.06234	0.0161	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38757	-0.9646	10	0.11794	T	0.64	.	4.0903	0.09967	0.1848:0.6197:0.0:0.1955	.	360	Q9BYG8	GSDMC_HUMAN	D	360	ENSP00000276708:N360D	ENSP00000276708:N360D	N	-	1	0	GSDMC	130831864	0.000000	0.05858	0.002000	0.10522	0.030000	0.12068	0.039000	0.13884	0.333000	0.23563	-1.104000	0.02111	AAC		0.468	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380586.1		
PYCRL	65263	broad.mit.edu	37	8	144690265	144690265	+	Silent	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:144690265A>G	ENST00000220966.6	-	2	188	c.159T>C	c.(157-159)agT>agC	p.S53S	PYCRL_ENST00000377579.3_5'UTR|PYCRL_ENST00000495276.1_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	41					L-proline biosynthetic process (GO:0055129)		pyrroline-5-carboxylate reductase activity (GO:0004735)			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		L-Proline(DB00172)	CTGTTGGTGCACTGGCCAGTA	0.532																																						uc003yyy.3																			0				central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5						c.(157-159)agT>agC		Homo sapiens pyrroline-5-carboxylate reductase-like (PYCRL), mRNA.							135.0	126.0	129.0					8																	144690265		2203	4300	6503	SO:0001819	synonymous_variant	65263				proline biosynthetic process		pyrroline-5-carboxylate reductase activity	g.chr8:144690265A>G	AF086378	CCDS6407.2	8q24.3	2011-09-30	2011-09-30	2011-09-30	ENSG00000104524	ENSG00000104524			25846	protein-coding gene	gene with protein product							Standard	NM_023078		Approved	FLJ13852	uc003yyy.3	Q53H96	OTTHUMG00000157010	ENST00000220966.6:c.159T>C	8.37:g.144690265A>G						PYCRL_uc011lkm.2_Silent_p.S53S|PYCRL_uc011lkn.2_Non-coding_Transcript	p.S53S	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	189	-	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		41					B3KMB5|B4DVT6|H0Y6C3|Q8N3N9|Q96HX4|Q9H896	Silent	SNP	ENST00000220966.6	37	c.159T>C	CCDS6407.2																																																																																				0.532	PYCRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347081.2	NM_023078	
MPDZ	8777	broad.mit.edu	37	9	13107002	13107002	+	Missense_Mutation	SNP	G	G	A			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr9:13107002G>A	ENST00000319217.7	-	47	6422	c.6175C>T	c.(6175-6177)Cgg>Tgg	p.R2059W	MPDZ_ENST00000546205.1_Missense_Mutation_p.R2073W|MPDZ_ENST00000541093.1_Missense_Mutation_p.R293W|MPDZ_ENST00000536827.1_Missense_Mutation_p.R1997W|MPDZ_ENST00000381022.2_Missense_Mutation_p.R2030W|MPDZ_ENST00000538841.1_Missense_Mutation_p.R918W|MPDZ_ENST00000541718.1_Missense_Mutation_p.R2030W|MPDZ_ENST00000447879.1_Missense_Mutation_p.R2026W|MPDZ_ENST00000381015.4_Missense_Mutation_p.R2059W	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2059	PDZ 13. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCTTTTGTCCGTTTAAGGATG	0.483																																						uc010mhy.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(6088-6090)Cgg>Tgg		Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.							231.0	232.0	232.0					9																	13107002		2008	4175	6183	SO:0001583	missense	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13107002G>A	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.6175C>T	9.37:g.13107002G>A	ENSP00000320006:p.Arg2059Trp					MPDZ_uc003zkx.4_Missense_Mutation_p.R254W|MPDZ_uc003zky.4_Missense_Mutation_p.R593W|MPDZ_uc010mib.3_Missense_Mutation_p.R764W|MPDZ_uc010mhx.3_Missense_Mutation_p.R881W|MPDZ_uc011lmm.2_Missense_Mutation_p.R918W|MPDZ_uc003zkz.4_Missense_Mutation_p.R752W|MPDZ_uc010mhz.3_Missense_Mutation_p.R2026W|MPDZ_uc011lmn.2_Missense_Mutation_p.R1997W|MPDZ_uc003zlb.4_Missense_Mutation_p.R2030W	p.R2030W	NM_003829	NP_003820	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	44	6145	-			2059			PDZ 13.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	ENST00000319217.7	37	c.6088C>T		.	.	.	.	.	.	.	.	.	.	G	21.2	4.116869	0.77323	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000438511;ENST00000541093;ENST00000545857;ENST00000538841;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64;1.64	5.52	3.49	0.39957	PDZ/DHR/GLGF (4);	0.000000	0.38058	N	0.001825	T	0.50205	0.1602	M	0.63843	1.955	0.48762	D	0.999708	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.85130	0.997;0.99;0.993;0.997;0.996;0.997;0.993;0.993	T	0.53143	-0.8480	10	0.72032	D	0.01	.	11.8697	0.52513	0.0:0.0:0.4334:0.5666	.	1997;918;764;2026;1939;2030;2059;752	B7ZMI4;B7ZB24;B4DGX5;O75970-3;E7EPZ1;O75970-2;O75970;B3KRN5	.;.;.;.;.;.;MPDZ_HUMAN;.	W	2059;2030;2030;600;293;995;918;1997;2026;2059;1939;2073	ENSP00000320006:R2059W;ENSP00000439807:R2030W;ENSP00000370410:R2030W;ENSP00000415964:R600W;ENSP00000445259:R293W;ENSP00000444230:R995W;ENSP00000444717:R918W;ENSP00000444151:R1997W;ENSP00000415208:R2026W;ENSP00000370403:R2059W;ENSP00000446358:R2073W	ENSP00000320006:R2059W	R	-	1	2	MPDZ	13097002	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.939000	0.40213	1.314000	0.45095	0.563000	0.77884	CGG		0.483	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829	
ZCCHC6	79670	broad.mit.edu	37	9	88967843	88967843	+	Missense_Mutation	SNP	T	T	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr9:88967843T>C	ENST00000375963.3	-	2	444	c.272A>G	c.(271-273)aAt>aGt	p.N91S	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.N91S|ZCCHC6_ENST00000375961.2_Missense_Mutation_p.N91S|ZCCHC6_ENST00000375947.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	91					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTGGCTGTCATTCATCCAAGC	0.438																																						uc004aou.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(271-273)aAt>aGt		Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.							183.0	175.0	178.0					9																	88967843		2203	4300	6503	SO:0001583	missense	79670				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding	g.chr9:88967843T>C	AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.272A>G	9.37:g.88967843T>C	ENSP00000365130:p.Asn91Ser					ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aot.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript|ZCCHC6_uc004aov.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aow.3_Missense_Mutation_p.N91S|ZCCHC6_uc010mqf.2_Missense_Mutation_p.N91S	p.N91S	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN			1	410	-			91					Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Missense_Mutation	SNP	ENST00000375963.3	37	c.272A>G	CCDS35057.1	.	.	.	.	.	.	.	.	.	.	T	7.673	0.687298	0.14973	.	.	ENSG00000083223	ENST00000375960;ENST00000375961;ENST00000375963	T;T;T	0.46451	0.88;0.87;0.88	4.88	3.7	0.42460	.	0.073920	0.56097	D	0.000032	T	0.19366	0.0465	N	0.08118	0	0.28044	N	0.933648	B;B;B;B;B	0.26363	0.002;0.006;0.002;0.111;0.147	B;B;B;B;B	0.25614	0.012;0.012;0.008;0.047;0.062	T	0.05194	-1.0900	10	0.36615	T	0.2	-12.8917	5.1011	0.14760	0.0:0.2086:0.1523:0.6391	.	91;91;91;91;91	Q5VYS8-3;Q5VYS8-5;Q5VYS8-2;Q5VYS8-4;Q5VYS8	.;.;.;.;TUT7_HUMAN	S	91	ENSP00000365127:N91S;ENSP00000365128:N91S;ENSP00000365130:N91S	ENSP00000365127:N91S	N	-	2	0	ZCCHC6	88157663	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	1.248000	0.32827	2.041000	0.60428	0.482000	0.46254	AAT		0.438	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617	
PHF8	23133	broad.mit.edu	37	X	54037681	54037681	+	Missense_Mutation	SNP	C	C	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:54037681C>G	ENST00000357988.5	-	8	1286	c.928G>C	c.(928-930)Gcc>Ccc	p.A310P	PHF8_ENST00000322659.8_Missense_Mutation_p.A274P|PHF8_ENST00000338946.6_Missense_Mutation_p.A274P|PHF8_ENST00000338154.6_Missense_Mutation_p.A274P	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	310	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GTCAGATTGGCATTTGTTGGG	0.448																																						uc004dsu.3																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(928-930)Gcc>Ccc		Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.							92.0	75.0	81.0					X																	54037681		2203	4300	6503	SO:0001583	missense	23133				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding	g.chrX:54037681C>G	AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.928G>C	X.37:g.54037681C>G	ENSP00000350676:p.Ala310Pro					PHF8_uc004dsv.3_Missense_Mutation_p.A140P|PHF8_uc004dst.3_Missense_Mutation_p.A274P|PHF8_uc004dsw.3_Missense_Mutation_p.A274P|PHF8_uc004dsx.3_Missense_Mutation_p.A38P|PHF8_uc004dsy.3_Missense_Mutation_p.A274P	p.A310P	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN			7	1174	-			310			JmjC.		B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	ENST00000357988.5	37	c.928G>C	CCDS55420.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	22.9|22.9|22.9	4.346646|4.346646|4.346646	0.82022|0.82022|0.82022	.|.|.	.|.|.	ENSG00000172943|ENSG00000172943|ENSG00000172943	ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659|ENST00000443302|ENST00000396282	T;T;T;T|.|.	0.69306|.|.	-0.39;-0.39;-0.39;-0.39|.|.	5.48|5.48|5.48	5.48|5.48|5.48	0.80851|0.80851|0.80851	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);|.|.	0.050033|.|.	0.85682|.|.	D|.|.	0.000000|.|.	T|T|T	0.57548|0.57548|0.57548	0.2061|0.2061|0.2061	L|L|L	0.43598|0.43598|0.43598	1.365|1.365|1.365	0.51767|0.51767|0.51767	D|D|D	0.999932|0.999932|0.999932	D;D;D;D|.|.	0.76494|.|.	0.989;0.999;0.997;0.992|.|.	P;D;P;P|.|.	0.65684|.|.	0.801;0.937;0.833;0.871|.|.	T|T|T	0.55392|0.55392|0.55392	-0.8148|-0.8148|-0.8148	10|5|5	0.48119|.|.	T|.|.	0.1|.|.	-6.4182|-6.4182|-6.4182	10.6743|10.6743|10.6743	0.45776|0.45776|0.45776	0.0:0.9083:0.0:0.0917|0.0:0.9083:0.0:0.0917|0.0:0.9083:0.0:0.0917	.|.|.	274;274;310;310|.|.	Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1|.|.	.;.;.;PHF8_HUMAN|.|.	P|S|I	310;274;274;304;274|37|177	ENSP00000350676:A310P;ENSP00000338868:A274P;ENSP00000340051:A274P;ENSP00000319473:A274P|.|.	ENSP00000319473:A274P|.|.	A|C|M	-|-|-	1|2|3	0|0|0	PHF8|PHF8|PHF8	54054406|54054406|54054406	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.971000|0.971000|0.971000	0.66376|0.66376|0.66376	4.961000|4.961000|4.961000	0.63681|0.63681|0.63681	2.277000|2.277000|2.277000	0.76020|0.76020|0.76020	0.415000|0.415000|0.415000	0.27848|0.27848|0.27848	GCC|TGC|ATG		0.448	PHF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056784.2	NM_015107	
MAGEE1	57692	broad.mit.edu	37	X	75649443	75649443	+	Missense_Mutation	SNP	G	G	C			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:75649443G>C	ENST00000361470.2	+	1	1398	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	374	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCGCCTCTGATGGATCGGA	0.677																																						uc004ecm.2																			0				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						c.(1120-1122)Gat>Cat		Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.							35.0	27.0	29.0					X																	75649443		2203	4298	6501	SO:0001583	missense	57692					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane		g.chrX:75649443G>C	AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1120G>C	X.37:g.75649443G>C	ENSP00000354912:p.Asp374His						p.D374H	NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN			0	1398	+			374			Pro-rich.		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	ENST00000361470.2	37	c.1120G>C	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	G	8.080	0.772273	0.16051	.	.	ENSG00000198934	ENST00000361470	T	0.10099	2.91	2.13	0.113	0.14631	.	.	.	.	.	T	0.05731	0.0150	N	0.14661	0.345	0.09310	N	1	B	0.13594	0.008	B	0.01281	0.0	T	0.36768	-0.9734	9	0.66056	D	0.02	.	4.0734	0.09892	0.1743:0.4704:0.3553:0.0	.	374	Q9HCI5	MAGE1_HUMAN	H	374	ENSP00000354912:D374H	ENSP00000354912:D374H	D	+	1	0	MAGEE1	75565847	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.792000	0.04594	-0.081000	0.12662	0.506000	0.49869	GAT		0.677	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1	NM_020932	
RPA4	29935	broad.mit.edu	37	X	96139742	96139742	+	Missense_Mutation	SNP	A	A	G			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:96139742A>G	ENST00000373040.3	+	1	836	c.433A>G	c.(433-435)Att>Gtt	p.I145V	DIAPH2_ENST00000373054.4_Intron|DIAPH2_ENST00000373061.3_Intron|DIAPH2_ENST00000324765.8_Intron|DIAPH2_ENST00000355827.4_Intron|DIAPH2_ENST00000373049.4_Intron	NM_013347.4	NP_037479.1	Q13156	RFA4_HUMAN	replication protein A4, 30kDa	145					DNA damage checkpoint (GO:0000077)|DNA recombination (GO:0006310)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)	DNA replication factor A complex (GO:0005662)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	single-stranded DNA binding (GO:0003697)			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GGTATTGAAAATTCATGTCCT	0.453								Other identified genes with known or suspected DNA repair function																														uc004efv.4																			0		p.I145T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						c.(433-435)Att>Gtt	Other identified genes with known or suspected DNA repair function	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.							118.0	102.0	108.0					X																	96139742		2203	4300	6503	SO:0001583	missense	29935				DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	g.chrX:96139742A>G	U24186	CCDS35345.1	Xq21	2010-04-09	2010-04-09		ENSG00000204086	ENSG00000204086			30305	protein-coding gene	gene with protein product		300767	"""replication protein A4, 34kDa"""			7760808	Standard	NM_013347		Approved	HSU24186	uc004efv.4	Q13156	OTTHUMG00000021987	ENST00000373040.3:c.433A>G	X.37:g.96139742A>G	ENSP00000362131:p.Ile145Val					DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	p.I145V	NM_013347	NP_037479	Q13156	RFA4_HUMAN			0	836	+			145					Q3SY03	Missense_Mutation	SNP	ENST00000373040.3	37	c.433A>G	CCDS35345.1	.	.	.	.	.	.	.	.	.	.	A	9.368	1.069689	0.20147	.	.	ENSG00000204086	ENST00000373040	T	0.24908	1.83	3.81	1.38	0.22167	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);Nucleic acid binding, OB-fold, tRNA/helicase-type (1);	.	.	.	.	T	0.21103	0.0508	L	0.38692	1.165	0.09310	N	1	P	0.35328	0.495	B	0.43194	0.411	T	0.25257	-1.0137	9	0.31617	T	0.26	-18.273	2.5235	0.04685	0.6346:0.0:0.1294:0.236	.	145	Q13156	RFA4_HUMAN	V	145	ENSP00000362131:I145V	ENSP00000362131:I145V	I	+	1	0	RPA4	96026398	0.080000	0.21391	0.000000	0.03702	0.002000	0.02628	1.506000	0.35747	0.169000	0.19679	0.486000	0.48141	ATT		0.453	RPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057464.1	NM_013347	
