#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
LRRC47	57470	broad.mit.edu	37	1	3699235	3699235	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:3699235T>C	ENST00000378251.1	-	5	1430	c.1403A>G	c.(1402-1404)gAg>gGg	p.E468G	RN7SL574P_ENST00000581512.1_RNA|RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	468							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTTTGTCTTCTCACTGTTGGT	0.483																																						uc001akx.1																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(1402-1404)gAg>gGg		Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.							165.0	122.0	137.0					1																	3699235		2203	4300	6503	SO:0001583	missense	57470				translation		phenylalanine-tRNA ligase activity|RNA binding	g.chr1:3699235T>C	AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.1403A>G	1.37:g.3699235T>C	ENSP00000367498:p.Glu468Gly						p.E468G	NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)	4	1431	-	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	468					Q9ULN5	Missense_Mutation	SNP	ENST00000378251.1	37	c.1403A>G	CCDS51.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.188494	0.78789	.	.	ENSG00000130764	ENST00000378251	T	0.48522	0.81	4.63	4.63	0.57726	B3/B4 tRNA-binding domain (2);	0.214361	0.47852	D	0.000217	T	0.67277	0.2876	M	0.92738	3.34	0.80722	D	1	D	0.56968	0.978	P	0.51974	0.686	T	0.77191	-0.2678	10	0.72032	D	0.01	-24.5373	13.2059	0.59795	0.0:0.0:0.0:1.0	.	468	Q8N1G4	LRC47_HUMAN	G	468	ENSP00000367498:E468G	ENSP00000367498:E468G	E	-	2	0	LRRC47	3689095	1.000000	0.71417	0.999000	0.59377	0.949000	0.60115	7.580000	0.82523	1.720000	0.51447	0.260000	0.18958	GAG		0.483	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009744.1	NM_020710	
PRAMEF12	390999	broad.mit.edu	37	1	12837263	12837263	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:12837263G>C	ENST00000357726.4	+	3	1000	c.973G>C	c.(973-975)Gac>Cac	p.D325H		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	325					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAAGAGCTAGACCTGAGGGG	0.577																																						uc001aui.3																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(973-975)Gac>Cac		Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.							103.0	106.0	105.0					1																	12837263		2203	4300	6503	SO:0001583	missense	390999							g.chr1:12837263G>C		CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.973G>C	1.37:g.12837263G>C	ENSP00000350358:p.Asp325His						p.D325H	NM_001080830	NP_001074299	O95522	PRA12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	2	1000	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	325						Missense_Mutation	SNP	ENST00000357726.4	37	c.973G>C	CCDS41254.1	.	.	.	.	.	.	.	.	.	.	.	10.26	1.300936	0.23650	.	.	ENSG00000116726	ENST00000357726	T	0.56275	0.47	2.83	-4.44	0.03557	.	1.626250	0.03949	N	0.288191	T	0.60573	0.2279	M	0.64567	1.98	0.09310	N	1	D	0.89917	1.0	D	0.77004	0.989	T	0.56649	-0.7944	10	0.33141	T	0.24	.	0.3197	0.00301	0.2835:0.142:0.2884:0.2861	.	325	O95522	PRA12_HUMAN	H	325	ENSP00000350358:D325H	ENSP00000350358:D325H	D	+	1	0	PRAMEF12	12759850	0.003000	0.15002	0.000000	0.03702	0.177000	0.22998	-0.344000	0.07780	-1.150000	0.02840	0.205000	0.17691	GAC		0.577	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005457.1	XM_372760	
FHL3	2275	broad.mit.edu	37	1	38464646	38464646	+	Splice_Site	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:38464646C>T	ENST00000373016.3	-	3	499	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	FHL3_ENST00000485803.1_5'UTR	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	111	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GAACACATACCAGGCATGACA	0.527																																						uc001cck.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.e3+1		Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.							59.0	54.0	56.0					1																	38464646		2203	4300	6503	SO:0001630	splice_region_variant	2275				muscle organ development		zinc ion binding	g.chr1:38464646C>T	BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.331+1G>A	1.37:g.38464646C>T						FHL3_uc001ccm.3_Splice_Site_p.G3_splice|FHL3_uc009vvl.2_Splice_Site_p.G111_splice	p.G111_splice	NM_004468	NP_004459	Q13643	FHL3_HUMAN			3	510	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	111			LIM zinc-binding 2.		D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	ENST00000373016.3	37	c.331_splice	CCDS30678.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217286	0.79352	.	.	ENSG00000183386	ENST00000373016	D	0.86366	-2.11	5.94	5.94	0.96194	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.95329	0.8484	M	0.91406	3.205	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	0.95443	0.8527	10	0.87932	D	0	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	111;3;111	Q9P100;Q96C98;Q13643	.;.;FHL3_HUMAN	R	111	ENSP00000362107:G111R	ENSP00000362107:G111R	G	-	1	0	FHL3	38237233	1.000000	0.71417	0.998000	0.56505	0.342000	0.28953	7.818000	0.86416	2.826000	0.97356	0.561000	0.74099	GGG		0.527	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012958.1	NM_004468	Missense_Mutation
CDCP2	200008	broad.mit.edu	37	1	54605733	54605733	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:54605733G>A	ENST00000371330.1	-	4	1657	c.810C>T	c.(808-810)agC>agT	p.S270S	RP11-446E24.4_ENST00000525949.1_5'Flank|CDCP2_ENST00000530059.1_5'Flank	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	270	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GGTACTGTGGGCTGGAGAAGT	0.617																																						uc001cwv.1																			0				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						c.(808-810)agC>agT		Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.							47.0	38.0	41.0					1																	54605733		2198	4287	6485	SO:0001819	synonymous_variant	200008					extracellular region		g.chr1:54605733G>A		CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.810C>T	1.37:g.54605733G>A							p.S270S	NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN			3	1658	-			270			CUB 3.		Q6ZWJ3	Silent	SNP	ENST00000371330.1	37	c.810C>T	CCDS588.2																																																																																				0.617	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2	NM_201546	
RPF1	80135	broad.mit.edu	37	1	84962001	84962001	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:84962001T>C	ENST00000370654.5	+	8	971	c.956T>C	c.(955-957)cTt>cCt	p.L319P	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	319	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.|RNA-binding. {ECO:0000250}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TTAAGGTCTCTTCAGAAAGGA	0.323																																						uc001djv.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						c.(955-957)cTt>cCt		Homo sapiens ribosome production factor 1 homolog (S. cerevisiae) (RPF1), mRNA.							81.0	85.0	84.0					1																	84962001		2203	4300	6503	SO:0001583	missense	80135				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding	g.chr1:84962001T>C	AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.956T>C	1.37:g.84962001T>C	ENSP00000359688:p.Leu319Pro						p.L319P	NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN			7	1001	+			319			Brix.|RNA-binding (By similarity).		Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	c.956T>C	CCDS695.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.428503	0.83667	.	.	ENSG00000117133	ENST00000370654	T	0.50813	0.73	6.07	6.07	0.98685	Brix domain (2);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.72463	0.3463	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80299	-0.1441	10	0.87932	D	0	-20.8645	16.6407	0.85098	0.0:0.0:0.0:1.0	.	319	Q9H9Y2	RPF1_HUMAN	P	319	ENSP00000359688:L319P	ENSP00000359688:L319P	L	+	2	0	RPF1	84734589	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.679000	0.84048	2.326000	0.78906	0.533000	0.62120	CTT		0.323	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065	
FLG	2312	broad.mit.edu	37	1	152282534	152282534	+	Missense_Mutation	SNP	G	G	A	rs560805546		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:152282534G>A	ENST00000368799.1	-	3	4863	c.4828C>T	c.(4828-4830)Cgg>Tgg	p.R1610W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1610	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCAGACCGCCTCTCAGAG	0.572									Ichthyosis																													uc001ezu.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(4828-4830)Cgg>Tgg		Homo sapiens filaggrin (FLG), mRNA.							122.0	134.0	130.0					1																	152282534		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282534G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4828C>T	1.37:g.152282534G>A	ENSP00000357789:p.Arg1610Trp						p.R1610W	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4864	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1610			Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4828C>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	2.678	-0.276111	0.05679	.	.	ENSG00000143631	ENST00000368799	T	0.01804	4.63	2.33	1.4	0.22301	.	.	.	.	.	T	0.00412	0.0013	N	0.11201	0.11	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.47045	-0.9147	9	0.56958	D	0.05	.	5.2441	0.15487	0.1716:0.0:0.8284:0.0	.	1610	P20930	FILA_HUMAN	W	1610	ENSP00000357789:R1610W	ENSP00000357789:R1610W	R	-	1	2	FLG	150549158	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.151000	0.10175	0.532000	0.28657	-0.443000	0.05667	CGG		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
NCSTN	23385	broad.mit.edu	37	1	160318815	160318815	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:160318815A>G	ENST00000294785.5	+	3	342	c.217A>G	c.(217-219)Atc>Gtc	p.I73V	NCSTN_ENST00000392212.4_Missense_Mutation_p.I53V|NCSTN_ENST00000535857.1_Missense_Mutation_p.I73V|NCSTN_ENST00000368065.4_5'Flank|NCSTN_ENST00000368063.1_Missense_Mutation_p.I53V	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	73					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAGGGGTTATCCACGTAGT	0.468																																						uc001fvx.3																			0		p.I73N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(217-219)Atc>Gtc		Homo sapiens nicastrin (NCSTN), mRNA.							115.0	114.0	115.0					1																	160318815		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160318815A>G	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.217A>G	1.37:g.160318815A>G	ENSP00000294785:p.Ile73Val					NCSTN_uc009wtk.1_Non-coding_Transcript|NCSTN_uc001fvy.3_Missense_Mutation_p.I53V|NCSTN_uc010pjf.2_Missense_Mutation_p.I73V|NCSTN_uc010pjg.2_5'Flank	p.I73V	NM_015331	NP_056146	Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	341	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		73					Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.217A>G	CCDS1203.1	.	.	.	.	.	.	.	.	.	.	A	9.279	1.047761	0.19827	.	.	ENSG00000162736	ENST00000294785;ENST00000368063;ENST00000437169;ENST00000421914;ENST00000535857;ENST00000438008;ENST00000392212	T;T;T;T;T;T;T	0.75938	-0.98;-0.95;-0.23;-0.07;-0.02;-0.11;-0.95	5.08	5.08	0.68730	.	0.146153	0.46758	D	0.000265	T	0.40372	0.1114	N	0.16656	0.425	0.38260	D	0.941853	B;B;B	0.26672	0.106;0.126;0.156	B;B;B	0.25614	0.062;0.039;0.056	T	0.38802	-0.9644	10	0.17369	T	0.5	-23.8922	12.2431	0.54555	1.0:0.0:0.0:0.0	.	73;53;73	F6Y097;Q92542-2;Q92542	.;.;NICA_HUMAN	V	73;53;73;73;73;106;53	ENSP00000294785:I73V;ENSP00000357042:I53V;ENSP00000415442:I73V;ENSP00000390409:I73V;ENSP00000442605:I73V;ENSP00000389370:I106V;ENSP00000376047:I53V	ENSP00000294785:I73V	I	+	1	0	NCSTN	158585439	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	2.425000	0.44723	1.910000	0.55303	0.533000	0.62120	ATC		0.468	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331	
RYR2	6262	broad.mit.edu	37	1	237780610	237780610	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:237780610T>C	ENST00000366574.2	+	38	6057	c.5740T>C	c.(5740-5742)Tgt>Cgt	p.C1914R	RYR2_ENST00000542537.1_Missense_Mutation_p.C1898R|RYR2_ENST00000360064.6_Missense_Mutation_p.C1912R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1914	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGTACCTCTGTGACTGCCA	0.398																																						uc001hyl.1																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(5740-5742)Tgt>Cgt		Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.							48.0	42.0	44.0					1																	237780610		1876	4122	5998	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237780610T>C	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5740T>C	1.37:g.237780610T>C	ENSP00000355533:p.Cys1914Arg						p.C1914R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		37	5860	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1914			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.5740T>C	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.242218	0.79912	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.73152	-0.72;-0.72;-0.72	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000001	D	0.83663	0.5303	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85926	0.1449	10	0.87932	D	0	.	15.4156	0.74966	0.0:0.0:0.0:1.0	.	1914	Q92736	RYR2_HUMAN	R	1914;1912;1898	ENSP00000355533:C1914R;ENSP00000353174:C1912R;ENSP00000443798:C1898R	ENSP00000353174:C1912R	C	+	1	0	RYR2	235847233	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.997000	0.88414	2.036000	0.60181	0.528000	0.53228	TGT		0.398	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						uc010qex.1																			0											c.(523-525)aAt>aGt		Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																																						158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G						HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S	p.N175S							4	599	+									Missense_Mutation	SNP	ENST00000494540.1	37	c.524A>G																																																																																					0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086	
RET	5979	broad.mit.edu	37	10	43597850	43597850	+	Missense_Mutation	SNP	G	G	A	rs138265837		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr10:43597850G>A	ENST00000355710.3	+	3	630	c.398G>A	c.(397-399)cGt>cAt	p.R133H	RET_ENST00000340058.5_Missense_Mutation_p.R133H	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	133					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to retinoic acid (GO:0071300)|embryonic epithelial tube formation (GO:0001838)|enteric nervous system development (GO:0048484)|homophilic cell adhesion (GO:0007156)|innervation (GO:0060384)|lymphocyte migration into lymphoid organs (GO:0097021)|MAPK cascade (GO:0000165)|membrane protein proteolysis (GO:0033619)|neural crest cell migration (GO:0001755)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|peptidyl-tyrosine phosphorylation (GO:0018108)|Peyer's patch morphogenesis (GO:0061146)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell migration (GO:0030335)|positive regulation of cell size (GO:0045793)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of metanephric glomerulus development (GO:0072300)|positive regulation of neuron maturation (GO:0014042)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription, DNA-templated (GO:0045893)|posterior midgut development (GO:0007497)|protein phosphorylation (GO:0006468)|regulation of axonogenesis (GO:0050770)|regulation of cell adhesion (GO:0030155)|response to drug (GO:0042493)|response to pain (GO:0048265)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ureter maturation (GO:0035799)|ureteric bud development (GO:0001657)	endosome membrane (GO:0010008)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|protein tyrosine kinase activity (GO:0004713)|receptor activity (GO:0004872)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Cabozantinib(DB08875)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	ACATCCCTTCGTGAGGGCGAG	0.617		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				G|||	1	0.000199681	0.0008	0.0	5008	,	,		5512	0.0		0.0	False		,,,				2504	0.0				Melanoma(102;360 522 3376 9752 9881 14372 17251 18341 20876 24662 34807 43144 48149)	uc001jal.3		1	yes	Dom	yes	Multiple endocrine neoplasia 2A/2B	10	10q11.2	5979	"""T, Mis, N, F"""	ret proto-oncogene	yes	Hirschsprung disease	"""E, O"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	CCDC6/RET(4)|KIF5B/RET(79)	0				NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607						c.(397-399)cGt>cAt		Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	Sunitinib(DB01268)	G	HIS/ARG,HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	130.0	113.0	119.0		398,398	3.2	0.2	10	dbSNP_134	119	0,8600		0,0,4300	no	missense,missense	RET	NM_020630.4,NM_020975.4	29,29	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	probably-damaging,probably-damaging	133/1073,133/1115	43597850	2,13004	2203	4300	6503	SO:0001583	missense	5979	Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma	Familial Cancer Database	MEN2B, Wagenmann-Froboese s.;MEN2A, Sipple disease, incl MEN2C;FMTC	homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	g.chr10:43597850G>A	BC004257	CCDS7200.1, CCDS53525.1	10q11.2	2014-09-17	2007-02-16		ENSG00000165731	ENSG00000165731		"""Cadherins / Cadherin-related"""	9967	protein-coding gene	gene with protein product	"""cadherin-related family member 16"""	164761	"""multiple endocrine neoplasia and medullary thyroid carcinoma 1"", ""Hirschsprung disease 1"""	HSCR1, MEN2A, MTC1, MEN2B		2687772, 1611909	Standard	NM_020975		Approved	PTC, CDHF12, RET51, CDHR16	uc001jal.3	P07949	OTTHUMG00000018024	ENST00000355710.3:c.398G>A	10.37:g.43597850G>A	ENSP00000347942:p.Arg133His					RET_uc001jak.1_Missense_Mutation_p.R133H|RET_uc010qez.1_5'Flank	p.R133H	NM_020975	NP_066124	P07949	RET_HUMAN			2	588	+		Ovarian(717;0.0423)	133					A8K6Z2|Q15250|Q9BTB0|Q9H4A2	Missense_Mutation	SNP	ENST00000355710.3	37	c.398G>A	CCDS7200.1	.	.	.	.	.	.	.	.	.	.	G	11.58	1.681936	0.29872	4.54E-4	0.0	ENSG00000165731	ENST00000355710;ENST00000340058;ENST00000535749	T;T	0.79454	-1.15;-1.27	5.09	3.21	0.36854	.	0.577902	0.18268	N	0.146406	T	0.74321	0.3701	L	0.44542	1.39	0.09310	N	1	D;D	0.57571	0.965;0.98	B;P	0.51324	0.35;0.666	T	0.63773	-0.6561	10	0.44086	T	0.13	.	7.4434	0.27196	0.2718:0.0:0.7282:0.0	.	133;133	P07949;P07949-2	RET_HUMAN;.	H	133	ENSP00000347942:R133H;ENSP00000344798:R133H	ENSP00000344798:R133H	R	+	2	0	RET	42917856	0.061000	0.20836	0.228000	0.23943	0.142000	0.21351	2.218000	0.42889	1.135000	0.42183	0.655000	0.94253	CGT		0.617	RET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047694.2	NM_020975	
FAM13C	220965	broad.mit.edu	37	10	61022289	61022289	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr10:61022289G>C	ENST00000373868.2	-	10	1228	c.1141C>G	c.(1141-1143)Ccg>Gcg	p.P381A	FAM13C_ENST00000373867.3_Missense_Mutation_p.P298A|FAM13C_ENST00000422313.2_Missense_Mutation_p.P381A|FAM13C_ENST00000442566.3_Missense_Mutation_p.P402A|FAM13C_ENST00000435852.2_Missense_Mutation_p.P381A|FAM13C_ENST00000419214.2_Intron|FAM13C_ENST00000277705.6_Missense_Mutation_p.P402A|FAM13C_ENST00000468840.2_Missense_Mutation_p.P298A	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	381										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTGGCTCCGGGCCCGCAGCT	0.547																																						uc010qif.1																			0				NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(1207-1209)Ccg>Gcg		Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.							68.0	71.0	70.0					10																	61022289		2203	4300	6503	SO:0001583	missense	220965							g.chr10:61022289G>C	U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.1141C>G	10.37:g.61022289G>C	ENSP00000362975:p.Pro381Ala					FAM13C_uc010qid.2_Missense_Mutation_p.P298A|FAM13C_uc001jkn.3_Missense_Mutation_p.P381A|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Missense_Mutation_p.P298A|FAM13C_uc001jkp.3_Missense_Mutation_p.P298A	p.P403A	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN			9	1273	-			381					B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	c.1207C>G	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	7.335	0.619723	0.14193	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000468840;ENST00000435852;ENST00000422313	T;T;T;T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93;-0.93;-0.93;-0.93	5.93	3.95	0.45737	.	0.473844	0.21842	N	0.068318	T	0.52092	0.1713	N	0.16903	0.455	0.23056	N	0.998364	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.06405	0.002;0.0;0.002;0.001	T	0.23084	-1.0198	10	0.11485	T	0.65	-2.7884	7.7998	0.29168	0.0:0.222:0.4695:0.3085	.	381;298;381;381	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31	.;.;.;FA13C_HUMAN	A	298;381;402;402;298;381;381	ENSP00000362974:P298A;ENSP00000362975:P381A;ENSP00000395661:P402A;ENSP00000277705:P402A;ENSP00000423896:P298A;ENSP00000392302:P381A;ENSP00000400241:P381A	ENSP00000277705:P402A	P	-	1	0	FAM13C	60692295	0.739000	0.28196	1.000000	0.80357	0.219000	0.24729	1.533000	0.36040	2.814000	0.96858	0.563000	0.77884	CCG		0.547	FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
RNH1	6050	broad.mit.edu	37	11	494709	494709	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:494709G>A	ENST00000534797.1	-	9	2775	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	RNH1_ENST00000397604.3_Silent_p.S456S|RNH1_ENST00000438658.2_Silent_p.S456S|RNH1_ENST00000397615.2_Silent_p.S456S|RNH1_ENST00000354420.2_Silent_p.S456S|RNH1_ENST00000533410.1_Silent_p.S456S|RNH1_ENST00000397614.1_Silent_p.S456S|RNH1_ENST00000356187.5_Silent_p.S456S			O60930	RNH1_HUMAN	ribonuclease/angiogenin inhibitor 1	0					mitochondrial DNA replication (GO:0006264)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACCCTCAGGGATGGCTTGT	0.647																																						uc001lpk.1																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10						c.(1366-1368)tcC>tcT		Homo sapiens ribonuclease/angiogenin inhibitor 1 (RNH1), transcript variant 8, mRNA.							151.0	124.0	133.0					11																	494709		2203	4300	6503	SO:0001819	synonymous_variant	6050				mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity	g.chr11:494709G>A		CCDS7697.1	11p15.5	2008-02-05	2005-06-01	2005-06-01	ENSG00000023191	ENSG00000023191			10074	protein-coding gene	gene with protein product		173320	"""ribonuclease/angiogenin inhibitor"""	RNH			Standard	NM_203386		Approved	RAI	uc001lpo.1	P13489	OTTHUMG00000119086	ENST00000534797.1:c.1368C>T	11.37:g.494709G>A						RNH1_uc001lpl.1_Silent_p.S456S|RNH1_uc001lpm.1_Silent_p.S456S|RNH1_uc001lpn.1_Silent_p.S456S|RNH1_uc001lpo.1_Silent_p.S456S|RNH1_uc001lpp.2_Silent_p.S456S|RNH1_uc001lpq.2_Silent_p.S456S|RNH1_uc001lpr.2_Silent_p.S456S|RNH1_uc001lps.2_Silent_p.S456S	p.S456S	NM_203389	NP_976323	P13489	RINI_HUMAN		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	2776	-		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	456					B3KQU4|O60523|O60857|Q57Z93|Q5U0C1|Q6FHD4	Silent	SNP	ENST00000534797.1	37	c.1368C>T	CCDS7697.1	.	.	.	.	.	.	.	.	.	.	G	8.602	0.887101	0.17540	.	.	ENSG00000023191	ENST00000529768	T	0.44083	0.93	3.71	0.646	0.17789	.	.	.	.	.	T	0.35248	0.0925	.	.	.	0.24527	N	0.994132	.	.	.	.	.	.	T	0.37454	-0.9705	6	0.87932	D	0	.	2.8051	0.05425	0.333:0.0:0.4642:0.2028	.	.	.	.	L	285	ENSP00000432170:P285L	ENSP00000432170:P285L	P	-	2	0	RNH1	484709	0.818000	0.29161	0.078000	0.20375	0.089000	0.18198	0.744000	0.26245	0.157000	0.19338	0.650000	0.86243	CCC		0.647	RNH1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384301.1	NM_203389	
CD59	966	broad.mit.edu	37	11	33731856	33731856	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:33731856T>C	ENST00000395850.3	-	4	278	c.203A>G	c.(202-204)gAg>gGg	p.E68G	CD59_ENST00000437761.2_Missense_Mutation_p.E68G|CD59_ENST00000445143.2_Missense_Mutation_p.E68G|CD59_ENST00000533403.1_Missense_Mutation_p.S109G|CD59_ENST00000527577.1_Missense_Mutation_p.E68G|CD59_ENST00000415002.2_Missense_Mutation_p.E68G|CD59_ENST00000351554.3_Missense_Mutation_p.E68G|CD59_ENST00000426650.2_Missense_Mutation_p.E68G|CD59_ENST00000534312.1_Missense_Mutation_p.E68G|CD59_ENST00000528700.1_Missense_Mutation_p.E68G	NM_000611.5|NM_001127225.1|NM_001127226.1|NM_001127227.1|NM_203329.2|NM_203330.2|NM_203331.2	NP_000602.1|NP_001120697.1|NP_001120698.1|NP_001120699.1|NP_976074.1|NP_976075.1|NP_976076.1	P13987	CD59_HUMAN	CD59 molecule, complement regulatory protein	68	UPAR/Ly6.				blood coagulation (GO:0007596)|cell activation (GO:0001775)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|negative regulation of activation of membrane attack complex (GO:0001971)|negative regulation of apoptotic process (GO:0043066)|positive regulation of T cell proliferation (GO:0042102)|regulation of complement activation (GO:0030449)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|compact myelin (GO:0043218)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	complement binding (GO:0001848)			endometrium(1)|lung(2)	3						ATTGCAATGCTCAAACTTCCA	0.433																																						uc001mus.4																			0				endometrium(1)|lung(2)	3						c.(202-204)gAg>gGg		Homo sapiens CD59 molecule, complement regulatory protein (CD59), transcript variant 5, mRNA.							155.0	131.0	139.0					11																	33731856		2202	4298	6500	SO:0001583	missense	966				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction		g.chr11:33731856T>C		CCDS7886.1	11p13	2014-09-17	2006-03-28			ENSG00000085063		"""CD molecules"", ""Complement system"""	1689	protein-coding gene	gene with protein product		107271	"""CD59 antigen p18-20 (antigen identified by monoclonal antibodies 16.3A5, EJ16, EJ30, EL32 and G344)"", ""CD59 antigen, complement regulatory protein"""	MIC11, MIN1, MSK21, MIN2, MIN3		7691713	Standard	NM_001127223		Approved	16.3A5, EJ16, EJ30, EL32, G344, p18-20	uc001mus.4	P13987		ENST00000395850.3:c.203A>G	11.37:g.33731856T>C	ENSP00000379191:p.Glu68Gly					CD59_uc009yjx.3_Missense_Mutation_p.E68G|CD59_uc009yjy.3_Missense_Mutation_p.E68G|CD59_uc009yjz.3_Missense_Mutation_p.E68G|CD59_uc001mut.4_Missense_Mutation_p.E68G|CD59_uc009yka.3_Missense_Mutation_p.E68G|CD59_uc001muu.4_Missense_Mutation_p.E68G|CD59_uc001muv.4_Missense_Mutation_p.E68G	p.E68G	NM_001127223	NP_976076	P13987	CD59_HUMAN			2	485	-			68			UPAR/Ly6.			Missense_Mutation	SNP	ENST00000395850.3	37	c.203A>G	CCDS7886.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.125|9.125	1.010000|1.010000	0.19277|0.19277	.|.	.|.	ENSG00000085063|ENSG00000085063	ENST00000534312;ENST00000527926;ENST00000395850;ENST00000351554;ENST00000415002;ENST00000445143;ENST00000426650;ENST00000437761;ENST00000527577;ENST00000528700|ENST00000533403	T;T;T;T;T;T;T;T;T;T|T	0.71222|0.79940	-0.55;-0.55;2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99|-1.32	4.36|4.36	-5.62|-5.62	0.02481|0.02481	Ly-6 antigen / uPA receptor -like (1);CD59 antigen, conserved site (1);CD59 antigen (1);|.	3.072470|.	0.01334|.	N|.	0.011359|.	T|T	0.71108|0.71108	0.3301|0.3301	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B|B	0.20164|0.02656	0.042|0.0	B|B	0.26202|0.01281	0.067|0.0	T|T	0.50709|0.50709	-0.8796|-0.8796	10|8	0.42905|.	T|.	0.14|.	-2.8938|-2.8938	13.9622|13.9622	0.64188|0.64188	0.0:0.0733:0.6651:0.2616|0.0:0.0733:0.6651:0.2616	.|.	68|109	P13987|E9PI80	CD59_HUMAN|.	G|G	68|109	ENSP00000432362:E68G;ENSP00000437122:E68G;ENSP00000379191:E68G;ENSP00000340210:E68G;ENSP00000404822:E68G;ENSP00000403511:E68G;ENSP00000402425:E68G;ENSP00000410182:E68G;ENSP00000432942:E68G;ENSP00000434617:E68G|ENSP00000436737:S109G	ENSP00000340210:E68G|.	E|S	-|-	2|1	0|0	CD59|CD59	33688432|33688432	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-0.562000|-0.562000	0.05950|0.05950	-1.644000|-1.644000	0.01517|0.01517	-3.097000|-3.097000	0.00064|0.00064	GAG|AGC		0.433	CD59-002	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000388809.1	NM_203329	
OR5AK2	390181	broad.mit.edu	37	11	56756567	56756567	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:56756567A>G	ENST00000326855.2	+	1	221	c.179A>G	c.(178-180)tAc>tGc	p.Y60C		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ACACTCACGTACTTTTTTCTA	0.358																																						uc010rjp.2																			0		p.T59T(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						c.(178-180)tAc>tGc		Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.							116.0	103.0	107.0					11																	56756567		2201	4296	6497	SO:0001583	missense	390181				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56756567A>G	AB065496	CCDS31538.1	11q11	2012-08-09			ENSG00000181273	ENSG00000181273		"""GPCR / Class A : Olfactory receptors"""	15251	protein-coding gene	gene with protein product							Standard	NM_001005323		Approved		uc010rjp.2	Q8NH90	OTTHUMG00000167019	ENST00000326855.2:c.179A>G	11.37:g.56756567A>G	ENSP00000322784:p.Tyr60Cys						p.Y60C	NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN			0	179	+			60					B2RNZ9	Missense_Mutation	SNP	ENST00000326855.2	37	c.179A>G	CCDS31538.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585880	0.28268	.	.	ENSG00000181273	ENST00000326855	T	0.11930	2.73	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36893	N	0.002344	T	0.46288	0.1385	H	0.94964	3.605	0.36723	D	0.8813	D	0.89917	1.0	D	0.91635	0.999	T	0.66073	-0.6014	10	0.87932	D	0	-37.9698	11.532	0.50616	1.0:0.0:0.0:0.0	.	60	Q8NH90	O5AK2_HUMAN	C	60	ENSP00000322784:Y60C	ENSP00000322784:Y60C	Y	+	2	0	OR5AK2	56513143	1.000000	0.71417	0.949000	0.38748	0.113000	0.19764	4.936000	0.63506	1.644000	0.50603	0.163000	0.16589	TAC		0.358	OR5AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392446.1	NM_001005323	
PC	5091	broad.mit.edu	37	11	66618277	66618277	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:66618277C>A	ENST00000393958.2	-	17	2434	c.2341G>T	c.(2341-2343)Gca>Tca	p.A781S	PC_ENST00000393960.1_Missense_Mutation_p.A781S|PC_ENST00000393955.2_Missense_Mutation_p.A781S|PC_ENST00000528224.1_5'Flank|PC_ENST00000529047.1_5'Flank	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	781	Carboxyltransferase.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGCATGGCTGCCACGCCTGCC	0.657																																						uc001ojn.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2341-2343)Gca>Tca		Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	Biotin(DB00121)|Pyruvic acid(DB00119)						39.0	41.0	41.0					11																	66618277		2200	4295	6495	SO:0001583	missense	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66618277C>A	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.2341G>T	11.37:g.66618277C>A	ENSP00000377530:p.Ala781Ser					PC_uc001ojo.1_Missense_Mutation_p.A781S|PC_uc001ojp.1_Missense_Mutation_p.A781S	p.A781S	NM_022172	NP_071504	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	15	2390	-		Melanoma(852;0.0525)	781			Carboxyltransferase.		B4DN00|Q16705	Missense_Mutation	SNP	ENST00000393958.2	37	c.2341G>T	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.898158	0.91962	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960	D;D;D	0.99023	-5.34;-5.34;-5.34	4.41	4.41	0.53225	Aldolase-type TIM barrel (1);Pyruvate carboxyltransferase (2);	0.000000	0.85682	D	0.000000	D	0.99190	0.9719	M	0.84773	2.715	0.80722	D	1	P	0.37864	0.61	P	0.57283	0.817	D	0.98784	1.0733	10	0.44086	T	0.13	-12.3269	14.5571	0.68109	0.0:1.0:0.0:0.0	.	781	P11498	PYC_HUMAN	S	781	ENSP00000377527:A781S;ENSP00000377530:A781S;ENSP00000377532:A781S	ENSP00000377527:A781S	A	-	1	0	PC	66374853	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.349000	0.66010	2.298000	0.77334	0.655000	0.94253	GCA		0.657	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716	
SLC38A4	55089	broad.mit.edu	37	12	47163207	47163207	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr12:47163207C>T	ENST00000447411.1	-	14	1510	c.1304G>A	c.(1303-1305)cGt>cAt	p.R435H	SLC38A4_ENST00000266579.4_Missense_Mutation_p.R435H	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	435					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CACTGATGTACGAATCTTAAA	0.353																																						uc001rpi.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(1303-1305)cGt>cAt		Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.							122.0	115.0	117.0					12																	47163207		2203	4300	6503	SO:0001583	missense	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47163207C>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.1304G>A	12.37:g.47163207C>T	ENSP00000389843:p.Arg435His					SLC38A4_uc001rpj.2_Missense_Mutation_p.R435H	p.R435H	NM_018018	NP_060488	Q969I6	S38A4_HUMAN			14	1703	-	Lung SC(27;0.192)|Renal(347;0.236)		435					A8K553	Missense_Mutation	SNP	ENST00000447411.1	37	c.1304G>A	CCDS8750.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159008	0.94686	.	.	ENSG00000139209	ENST00000447411;ENST00000266579	T;T	0.02837	4.14;4.14	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.25158	0.0611	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.13683	-1.0500	10	0.87932	D	0	-13.1674	19.7359	0.96202	0.0:1.0:0.0:0.0	.	435	Q969I6	S38A4_HUMAN	H	435	ENSP00000389843:R435H;ENSP00000266579:R435H	ENSP00000266579:R435H	R	-	2	0	SLC38A4	45449474	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	7.818000	0.86416	2.672000	0.90937	0.462000	0.41574	CGT		0.353	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1		
TFCP2	7024	broad.mit.edu	37	12	51501060	51501060	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr12:51501060C>T	ENST00000257915.5	-	7	1245	c.787G>A	c.(787-789)Gag>Aag	p.E263K	TFCP2_ENST00000549867.1_Missense_Mutation_p.E263K|TFCP2_ENST00000548115.1_Missense_Mutation_p.E212K|TFCP2_ENST00000307660.4_Missense_Mutation_p.E212K	NM_001173452.1|NM_005653.4	NP_001166923.1|NP_005644.2	Q12800	TFCP2_HUMAN	transcription factor CP2	263	DNA-binding.				regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TGATATTTCTCCTTTTCATGA	0.323																																						uc001rxw.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						c.(787-789)Gag>Aag		Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.							281.0	272.0	275.0					12																	51501060		2203	4300	6503	SO:0001583	missense	7024				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr12:51501060C>T	U03494	CCDS8808.1, CCDS55827.1	12q13	2004-01-05				ENSG00000135457			11748	protein-coding gene	gene with protein product		189889				8157699	Standard	NM_005653		Approved	CP2, LSF, LBP-1C, TFCP2C	uc001rxw.3	Q12800	OTTHUMG00000169621	ENST00000257915.5:c.787G>A	12.37:g.51501060C>T	ENSP00000257915:p.Glu263Lys					TFCP2_uc001rxv.2_Missense_Mutation_p.E263K|TFCP2_uc009zlx.2_Missense_Mutation_p.E212K|TFCP2_uc009zly.1_Missense_Mutation_p.E165K	p.E263K	NM_005653	NP_005644	Q12800	TFCP2_HUMAN			6	1508	-			263			DNA-binding.		A8K5E9|Q12801|Q9UD75|Q9UD77	Missense_Mutation	SNP	ENST00000257915.5	37	c.787G>A	CCDS8808.1	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259403	0.39995	.	.	ENSG00000135457	ENST00000257915;ENST00000307660;ENST00000549867;ENST00000548115;ENST00000548108	T;T;T;T;T	0.52754	2.14;0.65;2.15;0.65;2.16	5.38	3.54	0.40534	.	0.000000	0.85682	D	0.000000	T	0.55909	0.1950	M	0.83012	2.62	0.58432	D	0.999993	P;B;B;P	0.44309	0.496;0.22;0.236;0.832	B;B;B;P	0.47102	0.178;0.219;0.081;0.537	T	0.57533	-0.7795	10	0.48119	T	0.1	-10.7022	9.5516	0.39313	0.1429:0.7819:0.0:0.0752	.	212;263;263;263	Q12800-2;F8VX55;Q12800;Q12800-4	.;.;TFCP2_HUMAN;.	K	263;212;263;212;165	ENSP00000257915:E263K;ENSP00000304411:E212K;ENSP00000449742:E263K;ENSP00000447991:E212K;ENSP00000449280:E165K	ENSP00000257915:E263K	E	-	1	0	TFCP2	49787327	1.000000	0.71417	0.999000	0.59377	0.028000	0.11728	7.770000	0.85390	0.766000	0.33244	-0.188000	0.12872	GAG		0.323	TFCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405119.1	NM_005653	
SLC9A7P1	121456	broad.mit.edu	37	12	98850560	98850560	+	RNA	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr12:98850560C>T	ENST00000554295.1	-	0	363					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		ATCACCCCAACGATGAGCCCA	0.552																																						uc009ztm.2																			0											c.(175-177)Gtt>Att		Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1 (SLC9A7P1), non-coding RNA.																																						121456							g.chr12:98850560C>T			12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98850560C>T							p.V59I							0	364	-									Missense_Mutation	SNP	ENST00000554295.1	37	c.175G>A																																																																																					0.552	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000409869.1		
PCDH9	5101	broad.mit.edu	37	13	67802278	67802279	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr13:67802278_67802279delCA	ENST00000377865.2	-	1	428_429	c.294_295delTG	c.(292-297)tgtgctfs	p.A99fs	PCDH9_ENST00000328454.5_Frame_Shift_Del_p.A99fs|PCDH9_ENST00000456367.1_Frame_Shift_Del_p.A99fs|PCDH9_ENST00000544246.1_Frame_Shift_Del_p.A99fs|PCDH9_ENST00000377861.3_Frame_Shift_Del_p.A99fs			Q9HC56	PCDH9_HUMAN	protocadherin 9	99	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAGGCGCCAGCACAGAGTTTTT	0.436																																						uc001vik.3																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(292-297)tgtgctfs		Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.																																				SO:0001589	frameshift_variant	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:67802278_67802279delCA	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.294_295delTG	13.37:g.67802280_67802281delCA	ENSP00000367096:p.Ala99fs					PCDH9_uc001vil.3_Frame_Shift_Del_p.C98fs|PCDH9_uc010thl.2_Frame_Shift_Del_p.C98fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.C98fs	p.C98fs	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	1	986_987	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	98			Cadherin 1.		A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Frame_Shift_Del	DEL	ENST00000377865.2	37	c.294_295delTG	CCDS9444.1																																																																																				0.436	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
FARP1	10160	broad.mit.edu	37	13	99061722	99061722	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr13:99061722G>A	ENST00000319562.6	+	14	1810	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	FARP1_ENST00000376586.2_Silent_p.P515P|FARP1_ENST00000595437.1_Silent_p.P515P	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	515					dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGATCAGCCCGCTGCTGAATG	0.652																																						uc001vnh.3																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1543-1545)ccG>ccA		Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.							37.0	29.0	31.0					13																	99061722		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr13:99061722G>A	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1545G>A	13.37:g.99061722G>A						FARP1_uc001vnj.3_Silent_p.P515P	p.P515P	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		13	1784	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		515					Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.1545G>A	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	G	10.54	1.379527	0.24944	.	.	ENSG00000152767	ENST00000457029	.	.	.	5.57	-6.03	0.02185	.	.	.	.	.	T	0.34745	0.0908	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37478	-0.9704	4	.	.	.	.	0.8949	0.01261	0.3666:0.1579:0.2744:0.2012	.	.	.	.	H	44	.	.	R	+	2	0	FARP1	97859723	0.059000	0.20769	0.779000	0.31741	0.946000	0.59487	-0.651000	0.05372	-1.268000	0.02439	-0.940000	0.02684	CGC		0.652	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766	
RNASE2	6036	broad.mit.edu	37	14	21424331	21424331	+	Missense_Mutation	SNP	A	A	T	rs536680369		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr14:21424331A>T	ENST00000304625.2	+	2	491	c.401A>T	c.(400-402)tAt>tTt	p.Y134F		NM_002934.2	NP_002925.1	P10153	RNAS2_HUMAN	ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin)	134					chemotaxis (GO:0006935)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)|ribonuclease activity (GO:0004540)			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		AACATGTTCTATATAGTTGCA	0.463																																						uc021ros.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17						c.(400-402)tAt>tTt		Homo sapiens ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) (RNASE2), mRNA.							114.0	111.0	112.0					14																	21424331		2203	4300	6503	SO:0001583	missense	6036				chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21424331A>T	X55988	CCDS9561.1	14q11.2	2014-03-13			ENSG00000169385	ENSG00000169385		"""Ribonucleases, RNase A"""	10045	protein-coding gene	gene with protein product		131410		RNS2		1577491, 2734298	Standard	NM_002934		Approved	EDN	uc001vyl.1	P10153	OTTHUMG00000029607	ENST00000304625.2:c.401A>T	14.37:g.21424331A>T	ENSP00000303276:p.Tyr134Phe					RNASE2_uc010aif.2_Missense_Mutation_p.Y134F|RNASE2_uc001vyl.1_Missense_Mutation_p.Y134F	p.Y134F	NM_002934	NP_002925	P10153	RNAS2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	0	401	+	all_cancers(95;0.00381)		134					Q52M39|Q9H2B7|Q9UCG7	Missense_Mutation	SNP	ENST00000304625.2	37	c.401A>T	CCDS9561.1	.	.	.	.	.	.	.	.	.	.	a	10.85	1.466076	0.26335	.	.	ENSG00000169385	ENST00000304625	T	0.73258	-0.73	3.02	-0.901	0.10540	Ribonuclease A, domain (4);	0.402896	0.17787	N	0.162001	T	0.57636	0.2067	L	0.43923	1.385	0.09310	N	1	P	0.50272	0.933	B	0.44085	0.44	T	0.52268	-0.8598	10	0.33940	T	0.23	.	6.2417	0.20795	0.4531:0.0:0.0:0.5469	.	134	P10153	RNAS2_HUMAN	F	134	ENSP00000303276:Y134F	ENSP00000303276:Y134F	Y	+	2	0	RNASE2	20494171	0.004000	0.15560	0.002000	0.10522	0.004000	0.04260	0.219000	0.17641	-0.144000	0.11314	0.374000	0.22700	TAT		0.463	RNASE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073799.2		
AJUBA	84962	broad.mit.edu	37	14	23444297	23444297	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr14:23444297C>T	ENST00000262713.2	-	5	1631	c.1256G>A	c.(1255-1257)gGg>gAg	p.G419E	AJUBA_ENST00000397388.3_Missense_Mutation_p.G2E|AJUBA_ENST00000361265.4_Missense_Mutation_p.G419E|RP11-298I3.5_ENST00000555074.1_Intron	NM_032876.4	NP_116265.1	Q96IF1	AJUBA_HUMAN	ajuba LIM protein	419	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				calcium-dependent cell-cell adhesion (GO:0016339)|cellular protein localization (GO:0034613)|focal adhesion assembly (GO:0048041)|G2/M transition of mitotic cell cycle (GO:0000086)|gene silencing by miRNA (GO:0035195)|glycerophospholipid biosynthetic process (GO:0046474)|lamellipodium assembly (GO:0030032)|mitotic cell cycle (GO:0000278)|negative regulation of hippo signaling (GO:0035331)|negative regulation of kinase activity (GO:0033673)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular biosynthetic process (GO:0031328)|positive regulation of gene silencing by miRNA (GO:2000637)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein complex assembly (GO:0031334)|regulation of cell migration (GO:0030334)|regulation of cellular response to hypoxia (GO:1900037)|regulation of GTPase activity (GO:0043087)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|wound healing, spreading of epidermal cells (GO:0035313)	cell-cell junction (GO:0005911)|cytoplasmic mRNA processing body (GO:0000932)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|transcription factor complex (GO:0005667)	alpha-catenin binding (GO:0045294)|chromatin binding (GO:0003682)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)										ATAGGACTTCCCCATTGCTTG	0.502																																						uc001whz.3																			0											c.(1255-1257)gGg>gAg		Homo sapiens ajuba LIM protein (AJUBA), transcript variant 1, mRNA.							91.0	87.0	89.0					14																	23444297		2203	4300	6503	SO:0001583	missense	84962				cell cycle|gene silencing by miRNA|positive regulation of protein complex assembly	cell-cell junction|cytoplasmic mRNA processing body|microtubule organizing center	alpha-catenin binding|zinc ion binding	g.chr14:23444297C>T	AK025567	CCDS9581.1, CCDS9582.1	14q11.2	2011-11-10	2011-11-10	2011-11-10	ENSG00000129474	ENSG00000129474			20250	protein-coding gene	gene with protein product		609066	"""jub, ajuba homolog (Xenopus laevis)"""	JUB		10330178	Standard	NM_032876		Approved	MGC15563	uc001whz.3	Q96IF1	OTTHUMG00000028711	ENST00000262713.2:c.1256G>A	14.37:g.23444297C>T	ENSP00000262713:p.Gly419Glu					AJUBA_uc001why.3_Missense_Mutation_p.G2E	p.G419E	NM_032876	NP_116265	Q96IF1	JUB_HUMAN			4	1629	-			419			LIM zinc-binding 2.		A8MX18|D3DS37	Missense_Mutation	SNP	ENST00000262713.2	37	c.1256G>A	CCDS9581.1	.	.	.	.	.	.	.	.	.	.	C	33	5.199337	0.94997	.	.	ENSG00000129474	ENST00000262713;ENST00000397388;ENST00000361265;ENST00000553592;ENST00000556731;ENST00000553911	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	6.17	6.17	0.99709	Zinc finger, LIM-type (4);	0.000000	0.85682	D	0.000000	D	0.93442	0.7908	M	0.80422	2.495	0.80722	D	1	P	0.41366	0.747	P	0.58820	0.846	D	0.92240	0.5800	10	0.49607	T	0.09	.	18.3732	0.90420	0.0:1.0:0.0:0.0	.	419	Q96IF1	JUB_HUMAN	E	419;2;419;2;2;2	ENSP00000262713:G419E;ENSP00000380543:G2E;ENSP00000354491:G419E;ENSP00000452369:G2E;ENSP00000451649:G2E;ENSP00000452325:G2E	ENSP00000262713:G419E	G	-	2	0	JUB	22514137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.442000	0.80503	2.941000	0.99782	0.655000	0.94253	GGG		0.502	AJUBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071685.2		
KCNH5	27133	broad.mit.edu	37	14	63316419	63316419	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr14:63316419A>T	ENST00000322893.7	-	8	1789	c.1521T>A	c.(1519-1521)gaT>gaA	p.D507E	KCNH5_ENST00000420622.2_Missense_Mutation_p.D507E|KCNH5_ENST00000394968.1_Missense_Mutation_p.D449E	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	507					potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGACAATATAATCCATGACTC	0.378																																						uc001xfx.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99						c.(1519-1521)gaT>gaA		Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.							156.0	142.0	147.0					14																	63316419		2203	4299	6502	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63316419A>T	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.1521T>A	14.37:g.63316419A>T	ENSP00000321427:p.Asp507Glu					KCNH5_uc001xfy.3_Missense_Mutation_p.D507E|KCNH5_uc001xfz.1_Missense_Mutation_p.D449E	p.D507E	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	7	1572	-			507					C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.1521T>A	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	A	11.67	1.706531	0.30232	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968	D;D;D	0.96334	-3.98;-3.98;-3.98	5.22	4.07	0.47477	Cyclic nucleotide-binding-like (1);	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	L	0.41124	1.26	0.80722	D	1	D;D;D	0.89917	0.997;1.0;1.0	D;D;D	0.97110	0.946;1.0;0.999	D	0.92509	0.6015	10	0.06236	T	0.91	.	9.9569	0.41673	0.9195:0.0:0.0805:0.0	.	449;507;507	Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;KCNH5_HUMAN	E	507;507;449	ENSP00000321427:D507E;ENSP00000395439:D507E;ENSP00000378419:D449E	ENSP00000321427:D507E	D	-	3	2	KCNH5	62386172	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.528000	0.60580	2.078000	0.62432	0.533000	0.62120	GAT		0.378	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
ADAMTS7	11173	broad.mit.edu	37	15	79059849	79059849	+	Missense_Mutation	SNP	C	C	T	rs565586720		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr15:79059849C>T	ENST00000388820.4	-	18	2941	c.2731G>A	c.(2731-2733)Gtg>Atg	p.V911M	ADAMTS7_ENST00000566303.1_Intron	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	911	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of chondrocyte differentiation (GO:0032331)|proteolysis involved in cellular protein catabolic process (GO:0051603)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V911M(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCAGCCCCACGCTGCGGATG	0.706													C|||	1	0.000199681	0.0	0.0	5008	,	,		12131	0.0		0.001	False		,,,				2504	0.0					uc002bej.4																			1	Substitution - Missense(1)	p.V911M(2)	lung(1)	NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						c.(2731-2733)Gtg>Atg		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.							18.0	21.0	20.0					15																	79059849		2184	4283	6467	SO:0001583	missense	11173				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:79059849C>T	AF140675	CCDS32303.1	15q25.1	2012-05-16	2005-08-19		ENSG00000136378	ENSG00000136378		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	223	protein-coding gene	gene with protein product	"""COMPase"", ""a disintegrin and metalloprotease with thrombospondin motifs-7 preproprotein"""	605009	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7"""			10464288	Standard	NM_014272		Approved	ADAM-TS7, DKFZp434H204	uc002bej.4	Q9UKP4	OTTHUMG00000172907	ENST00000388820.4:c.2731G>A	15.37:g.79059849C>T	ENSP00000373472:p.Val911Met					ADAMTS7_uc010und.1_Intron	p.V911M	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN			17	2942	-			911			TSP type-1 3.		Q14F51|Q6P7J9	Missense_Mutation	SNP	ENST00000388820.4	37	c.2731G>A	CCDS32303.1	.	.	.	.	.	.	.	.	.	.	C	4.917	0.170484	0.09391	.	.	ENSG00000136378	ENST00000388820	T	0.61158	0.13	4.59	1.58	0.23477	.	0.073014	0.53938	N	0.000050	T	0.33294	0.0858	N	0.25201	0.72	0.33034	D	0.530502	P	0.38473	0.633	B	0.30943	0.122	T	0.42599	-0.9442	10	0.15499	T	0.54	.	9.4567	0.38758	0.0:0.7614:0.0:0.2386	.	911	Q9UKP4	ATS7_HUMAN	M	911	ENSP00000373472:V911M	ENSP00000373472:V911M	V	-	1	0	ADAMTS7	76846904	0.989000	0.36119	0.901000	0.35422	0.223000	0.24884	2.882000	0.48546	0.035000	0.15519	-0.350000	0.07774	GTG		0.706	ADAMTS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421331.1	NM_014272	
ADAMTS17	170691	broad.mit.edu	37	15	100591784	100591784	+	Silent	SNP	G	G	A	rs146325180		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr15:100591784G>A	ENST00000268070.4	-	17	2553	c.2448C>T	c.(2446-2448)tgC>tgT	p.C816C		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	816	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C816C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CACCTCCGCCGCACTGCACAC	0.567													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16783	0.0		0.0	False		,,,				2504	0.0					uc002bvv.1																			1	Substitution - coding silent(1)	p.C816C(2)	prostate(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50						c.(2446-2448)tgC>tgT		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.		G		2,4404	4.2+/-10.8	0,2,2201	138.0	141.0	140.0		2448	-11.1	0.2	15	dbSNP_134	140	0,8600		0,0,4300	no	coding-synonymous	ADAMTS17	NM_139057.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		816/1096	100591784	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	170691				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr15:100591784G>A	AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.2448C>T	15.37:g.100591784G>A							p.C816C	NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)	16	2527	-	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		816			TSP type-1 2.		Q2I7G4|Q6ZN75	Silent	SNP	ENST00000268070.4	37	c.2448C>T	CCDS10383.1																																																																																				0.567	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313595.1	NM_139057	
IL4R	3566	broad.mit.edu	37	16	27374437	27374437	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr16:27374437G>A	ENST00000395762.2	+	11	2023	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	IL4R_ENST00000170630.2_Silent_p.Q588Q|IL4R_ENST00000543915.2_Silent_p.Q588Q|IL4R_ENST00000380922.3_Silent_p.Q573Q	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	588	Required for IL4-induced gene expression.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GTGGCACCCAGGCCAGTGCGG	0.637																																						uc002don.3																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1762-1764)caG>caA		Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.							31.0	37.0	35.0					16																	27374437		2196	4300	6496	SO:0001819	synonymous_variant	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27374437G>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1764G>A	16.37:g.27374437G>A						IL4R_uc002dop.4_Silent_p.Q573Q|IL4R_uc010bxy.3_Silent_p.Q588Q|IL4R_uc002doo.3_Silent_p.Q428Q	p.Q588Q	NM_000418	NP_000409	P24394	IL4RA_HUMAN			10	2006	+			588			Required for IL4-induced gene expression.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	c.1764G>A	CCDS10629.1																																																																																				0.637	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4		
YWHAE	7531	broad.mit.edu	37	17	1303395	1303395	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:1303395G>A	ENST00000264335.8	-	1	277	c.10C>T	c.(10-12)Cga>Tga	p.R4*	YWHAE_ENST00000571732.1_5'UTR|YWHAE_ENST00000575977.1_Nonsense_Mutation_p.R4*|YWHAE_ENST00000498643.1_5'UTR|YWHAE_ENST00000573026.1_Nonsense_Mutation_p.R4*	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon	4					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cerebral cortex development (GO:0021987)|G2/M transition of mitotic cell cycle (GO:0000086)|hippo signaling (GO:0035329)|hippocampus development (GO:0021766)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|mitotic cell cycle (GO:0000278)|negative regulation of peptidyl-serine dephosphorylation (GO:1902309)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting (GO:0006605)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of heart rate by hormone (GO:0003064)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|substantia nigra development (GO:0021762)|viral process (GO:0016032)	cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|kinesin complex (GO:0005871)|membrane (GO:0016020)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|ion channel binding (GO:0044325)|MHC class II protein complex binding (GO:0023026)|phosphoprotein binding (GO:0051219)|phosphoserine binding (GO:0050815)|poly(A) RNA binding (GO:0044822)|potassium channel regulator activity (GO:0015459)|protein heterodimerization activity (GO:0046982)			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		AGATCCTCTCGATCATCCATA	0.657			T	"""FAM22a, FAM22B"""	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome																															uc002fsj.3				Dom	yes		17	17p13.3	7531	T	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (14-3-3 epsilon)"""	yes	Miller-Dieker lissencephaly syndrome	M	"""FAM22a, FAM22B"""		edometrial stromal sarcoma		0				kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14						c.(10-12)Cga>Tga		Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.							62.0	62.0	62.0					17																	1303395		2203	4300	6503	SO:0001587	stop_gained	7531				apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	g.chr17:1303395G>A	U54778	CCDS11001.1	17p13.3	2013-12-03	2013-12-03		ENSG00000108953	ENSG00000108953			12851	protein-coding gene	gene with protein product	"""14-3-3 epsilon"""	605066	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide"""			9371399	Standard	NM_006761		Approved	FLJ45465	uc002fsj.3	P62258	OTTHUMG00000134316	ENST00000264335.8:c.10C>T	17.37:g.1303395G>A	ENSP00000264335:p.Arg4*					YWHAE_uc002fsk.3_5'UTR|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Non-coding_Transcript	p.R4*	NM_006761	NP_006752	P62258	1433E_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)	0	162	-			4					B3KY71|D3DTH5|P29360|P42655|Q4VJB6|Q53XZ5|Q63631|Q7M4R4	Nonsense_Mutation	SNP	ENST00000264335.8	37	c.10C>T	CCDS11001.1	.	.	.	.	.	.	.	.	.	.	G	40	8.473427	0.98827	.	.	ENSG00000108953	ENST00000264335	.	.	.	4.81	4.81	0.61882	.	0.082402	0.49916	U	0.000127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	9.0519	15.3991	0.74823	0.0:0.0:1.0:0.0	.	.	.	.	X	4	.	ENSP00000264335:R4X	R	-	1	2	YWHAE	1250145	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.084000	0.71335	2.496000	0.84212	0.484000	0.47621	CGA		0.657	YWHAE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259354.3	NM_006761	
YBX2	51087	broad.mit.edu	37	17	7194458	7194458	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:7194458A>G	ENST00000007699.5	-	4	476	c.413T>C	c.(412-414)gTt>gCt	p.V138A	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	138	CSD.|Required for cytoplasmic retention. {ECO:0000250}.				mRNA stabilization (GO:0048255)|negative regulation of binding (GO:0051100)|negative regulation of translation (GO:0017148)|oocyte development (GO:0048599)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|transcription from RNA polymerase II promoter (GO:0006366)|translational attenuation (GO:0009386)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lipid binding (GO:0008289)|mRNA 3'-UTR binding (GO:0003730)|ribonucleoprotein complex binding (GO:0043021)|translation regulator activity (GO:0045182)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CCCATCTCCAACGCTGCGCAG	0.502																																						uc002gfq.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						c.(412-414)gTt>gCt		Homo sapiens Y box binding protein 2 (YBX2), mRNA.							137.0	129.0	132.0					17																	7194458		2203	4300	6503	SO:0001583	missense	51087				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding	g.chr17:7194458A>G	AF096834	CCDS11098.1	17p13.1	2013-12-20			ENSG00000006047	ENSG00000006047			17948	protein-coding gene	gene with protein product		611447				10100484, 9780336	Standard	NM_015982		Approved	MSY2, CSDA3	uc002gfq.2	Q9Y2T7	OTTHUMG00000177992	ENST00000007699.5:c.413T>C	17.37:g.7194458A>G	ENSP00000007699:p.Val138Ala						p.V138A	NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN			3	470	-			138			CSD.|Required for cytoplasmic retention (By similarity).		D3DTP1|Q8N4P0	Missense_Mutation	SNP	ENST00000007699.5	37	c.413T>C	CCDS11098.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.802323	0.90538	.	.	ENSG00000006047	ENST00000007699	T	0.31510	1.49	5.63	5.63	0.86233	Cold shock protein (1);Nucleic acid-binding, OB-fold-like (1);Cold-shock protein, DNA-binding (2);Nucleic acid-binding, OB-fold (1);	0.066855	0.64402	D	0.000016	T	0.51618	0.1685	L	0.58810	1.83	0.51767	D	0.999937	D	0.76494	0.999	D	0.80764	0.994	T	0.53330	-0.8454	10	0.87932	D	0	-18.2699	14.0999	0.65049	1.0:0.0:0.0:0.0	.	138	Q9Y2T7	YBOX2_HUMAN	A	138	ENSP00000007699:V138A	ENSP00000007699:V138A	V	-	2	0	YBX2	7135182	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.941000	0.87700	2.279000	0.76181	0.533000	0.62120	GTT		0.502	YBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440172.2	NM_015982	
TP53	7157	broad.mit.edu	37	17	7577609	7577609	+	Splice_Site	SNP	C	C	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:7577609C>G	ENST00000269305.4	-	7	862		c.e7-1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site	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						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.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)	CAGAGCCAACCTAGGAGATAA	0.527		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"""		43	Unknown(33)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)	biliary_tract(9)|lung(9)|central_nervous_system(4)|bone(4)|liver(4)|upper_aerodigestive_tract(3)|breast(3)|oesophagus(2)|ovary(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(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	GRCh37	CS011061	TP53	S		c.e7-1	Other conserved DNA damage response genes	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.							89.0	75.0	80.0					17																	7577609		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7577609C>G	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.673-1G>C	17.37:g.7577609C>G		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_Splice_Site_p.V225_splice|TP53_uc002gih.3_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|DL476358_uc021tph.1_5'Flank	p.V225_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	867	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	225		V -> A (in sporadic cancers; somatic mutation).|V -> D (in a sporadic cancer; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in a sporadic cancer; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		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	Splice_Site	SNP	ENST00000269305.4	37	c.673_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.73	3.685397	0.68157	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.965	0.58480	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518334	1.000000	0.71417	0.321000	0.25320	0.603000	0.37013	7.494000	0.81503	2.158000	0.67659	0.462000	0.41574	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
USP43	124739	broad.mit.edu	37	17	9546402	9546402	+	5'Flank	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:9546402G>T	ENST00000285199.7	+	0	0				WDR16_ENST00000299764.5_Missense_Mutation_p.V594L|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000396219.3_Missense_Mutation_p.V516L|WDR16_ENST00000352665.5_Missense_Mutation_p.V584L|USP43_ENST00000570475.1_5'Flank	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TCACGTTGGGGTGGGACACAG	0.443																																						uc010coc.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(1780-1782)Gtg>Ttg		Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.							131.0	114.0	120.0					17																	9546402		2203	4300	6503	SO:0001631	upstream_gene_variant	146845					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr17:9546402G>T	AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4			17.37:g.9546402G>T	Exception_encountered					USP43_uc002gma.4_5'Flank|USP43_uc010cod.3_5'Flank|USP43_uc010vva.2_5'Flank|WDR16_uc002gly.3_Missense_Mutation_p.V584L|WDR16_uc002glz.3_Missense_Mutation_p.V516L	p.V594L			Q8N1V2	WDR16_HUMAN			14	2009	+			584					A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	ENST00000285199.7	37	c.1780G>T	CCDS45610.1	.	.	.	.	.	.	.	.	.	.	G	8.449	0.852597	0.17106	.	.	ENSG00000166596	ENST00000352665;ENST00000396219;ENST00000299764	T;T;T	0.59638	1.2;0.25;0.25	5.88	3.9	0.45041	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.341060	0.34291	N	0.004093	T	0.33760	0.0874	N	0.11651	0.15	0.35103	D	0.765418	B;B;B	0.14012	0.009;0.009;0.004	B;B;B	0.14023	0.01;0.006;0.007	T	0.28870	-1.0030	10	0.20046	T	0.44	-13.0762	8.7283	0.34483	0.2324:0.0:0.7676:0.0	.	594;516;584	Q8N1V2-2;Q8N1V2-3;Q8N1V2	.;.;WDR16_HUMAN	L	584;516;594	ENSP00000339449:V584L;ENSP00000379521:V516L;ENSP00000299764:V594L	ENSP00000299764:V594L	V	+	1	0	WDR16	9487127	0.998000	0.40836	0.991000	0.47740	0.869000	0.49853	2.105000	0.41825	0.827000	0.34685	0.655000	0.94253	GTG		0.443	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3	NM_153210	
BRCA1	672	broad.mit.edu	37	17	41245683	41245683	+	Missense_Mutation	SNP	G	G	A	rs56039126		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:41245683G>A	ENST00000357654.3	-	10	1983	c.1865C>T	c.(1864-1866)gCg>gTg	p.A622V	BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000493795.1_Missense_Mutation_p.A575V|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.A622V|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.A326V|BRCA1_ENST00000354071.3_Missense_Mutation_p.A622V|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.A622V|BRCA1_ENST00000491747.2_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	622					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAGTTCAAGCGCATGAATATG	0.358			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												uc002icq.3			yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	"""D, Mis, N, F, S"""	familial breast/ovarian cancer gene 1			E		"""breast, ovarian"""	ovarian		0				NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120	GRCh37	CM076031	BRCA1	M	rs56039126	c.(1864-1866)gCg>gTg	Homologous recombination	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA,VAL/ALA,,	0,4406		0,0,2203	83.0	85.0	84.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	1865,1724,1865,,	1.5	0.0	17	dbSNP_129	84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,intron,intron	BRCA1	NM_007294.3,NM_007297.3,NM_007300.3,NM_007298.3,NM_007299.3	64,64,64,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,,	622/1864,575/1817,622/1885,,	41245683	1,13005	2203	4300	6503	SO:0001583	missense	672	Hereditary Breast-Ovarian Cancer, BRCA1 type	Familial Cancer Database		androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:41245683G>A	U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1865C>T	17.37:g.41245683G>A	ENSP00000350283:p.Ala622Val	TCGA Ovarian(2;0.000030)				BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.A551V|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.A575V|BRCA1_uc002ict.3_Missense_Mutation_p.A622V|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.A622V|BRCA1_uc002ide.1_Missense_Mutation_p.A453V|BRCA1_uc010cyy.1_Missense_Mutation_p.A622V|BRCA1_uc010whs.1_Missense_Mutation_p.A622V|BRCA1_uc010cyz.2_Missense_Mutation_p.A575V|BRCA1_uc010cza.2_Missense_Mutation_p.A596V|BRCA1_uc010wht.1_Missense_Mutation_p.A326V	p.A622V	NM_007294	NP_009228	P38398	BRCA1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.126)	9	2097	-		Breast(137;0.000717)	622					O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	ENST00000357654.3	37	c.1865C>T	CCDS11453.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330879	0.24167	0.0	1.16E-4	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	T;T;T;T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49;-1.49	4.8	1.5	0.22942	.	0.509438	0.18218	N	0.147967	D	0.84871	0.5568	H	0.95294	3.65	0.09310	N	1	P;P;P;P;P;B	0.46020	0.871;0.871;0.482;0.494;0.63;0.446	B;B;B;B;B;B	0.40134	0.32;0.32;0.097;0.046;0.15;0.08	T	0.79683	-0.1701	10	0.59425	D	0.04	-0.4329	13.0379	0.58882	0.0:0.0:0.4522:0.5478	rs56039126	622;581;622;622;622;622	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	V	622;622;622;622;326;622;575;622;596	ENSP00000350283:A622V;ENSP00000326002:A622V;ENSP00000246907:A622V;ENSP00000310938:A326V;ENSP00000418960:A622V;ENSP00000418775:A575V;ENSP00000419274:A622V;ENSP00000419988:A596V	ENSP00000310938:A326V	A	-	2	0	BRCA1	38499209	0.005000	0.15991	0.048000	0.18961	0.927000	0.56198	1.334000	0.33827	0.623000	0.30267	-0.475000	0.04921	GCG		0.358	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294	
CSH2	1443	broad.mit.edu	37	17	61950623	61950623	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:61950623G>A	ENST00000392886.2	-	2	238	c.87C>T	c.(85-87)acC>acT	p.T29T	CSH2_ENST00000560142.1_Intron|CSH2_ENST00000336844.5_Silent_p.T29T|CSH2_ENST00000345366.7_Silent_p.T29T	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	29						extracellular region (GO:0005576)	metal ion binding (GO:0046872)	p.T29T(2)		endometrium(2)|large_intestine(1)|lung(3)	6						ATAACGGAACGGTTTGGACGG	0.597																																						uc002jch.3																			2	Substitution - coding silent(2)	p.T29T(3)|p.T29N(1)	large_intestine(2)	endometrium(2)|large_intestine(1)|lung(3)	6						c.(85-87)acC>acT		Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.							105.0	103.0	104.0					17																	61950623		2203	4300	6503	SO:0001819	synonymous_variant	1443				female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	g.chr17:61950623G>A	V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.87C>T	17.37:g.61950623G>A						CSH2_uc002jci.3_Silent_p.T29T|CSH2_uc002jcg.3_Silent_p.T29T	p.T29T	NM_020991	NP_066271	P01243	CSH_HUMAN			1	202	-			29					P01243|Q0VDB1|Q14407	Silent	SNP	ENST00000392886.2	37	c.87C>T	CCDS42369.1																																																																																				0.597	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417657.1	NM_020991	
BPTF	2186	broad.mit.edu	37	17	65888098	65888098	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:65888098A>T	ENST00000321892.4	+	7	2442	c.2381A>T	c.(2380-2382)cAg>cTg	p.Q794L	BPTF_ENST00000335221.5_Missense_Mutation_p.Q794L|BPTF_ENST00000306378.6_Missense_Mutation_p.Q668L|BPTF_ENST00000424123.3_Missense_Mutation_p.Q655L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	794					anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGAGCCAGCAGGTGGCAGCC	0.433																																						uc002jgf.3																			0				NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						c.(2002-2004)cAg>cTg		Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.							45.0	43.0	44.0					17																	65888098		2203	4300	6503	SO:0001583	missense	2186				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding	g.chr17:65888098A>T	AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.2381A>T	17.37:g.65888098A>T	ENSP00000315454:p.Gln794Leu					BPTF_uc002jge.3_Missense_Mutation_p.Q794L|BPTF_uc010wqm.1_Missense_Mutation_p.Q731L	p.Q668L	NM_182641	NP_872579	Q12830	BPTF_HUMAN	BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)		4	2064	+	all_cancers(12;6e-11)		794			Interaction with KEAP1.		Q6NX67|Q7Z7D6|Q9UIG2	Missense_Mutation	SNP	ENST00000321892.4	37	c.2003A>T		.	.	.	.	.	.	.	.	.	.	A	20.8	4.047732	0.75846	.	.	ENSG00000171634	ENST00000544491;ENST00000306378;ENST00000335221;ENST00000321892;ENST00000544778	T;T;T	0.66460	-0.14;-0.21;-0.19	5.25	5.25	0.73442	.	.	.	.	.	T	0.73760	0.3628	L	0.32530	0.975	0.80722	D	1	D;D;D	0.69078	0.993;0.997;0.992	D;D;D	0.72982	0.977;0.919;0.979	T	0.77021	-0.2742	9	0.72032	D	0.01	-7.974	15.4476	0.75243	1.0:0.0:0.0:0.0	.	794;668;794	Q12830;Q12830-2;Q12830-4	BPTF_HUMAN;.;.	L	699;668;794;794;592	ENSP00000307208:Q668L;ENSP00000334351:Q794L;ENSP00000315454:Q794L	ENSP00000307208:Q668L	Q	+	2	0	BPTF	63318560	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.150000	0.94667	2.090000	0.63153	0.533000	0.62120	CAG		0.433	BPTF-201	KNOWN	basic	protein_coding	protein_coding		NM_182641, NM_004459	
ABCA6	23460	broad.mit.edu	37	17	67077247	67077247	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:67077247G>A	ENST00000284425.2	-	37	4830	c.4656C>T	c.(4654-4656)gaC>gaT	p.D1552D	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1552					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GAGGGTAAACGTCTGCCACGG	0.373																																						uc002jhw.1																			0				breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82						c.(4654-4656)gaC>gaT		Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.							106.0	110.0	109.0					17																	67077247		2203	4300	6503	SO:0001819	synonymous_variant	23460				transport	integral to membrane	ATP binding|ATPase activity	g.chr17:67077247G>A	U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.4656C>T	17.37:g.67077247G>A							p.D1552D	NM_080284	NP_525023	Q8N139	ABCA6_HUMAN			36	4831	-	Breast(10;5.65e-12)		1552					Q6NSH9|Q8N856|Q8WWZ6	Silent	SNP	ENST00000284425.2	37	c.4656C>T	CCDS11683.1																																																																																				0.373	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450463.1	NM_080284	
SERPINB3	6317	broad.mit.edu	37	18	61323102	61323102	+	Missense_Mutation	SNP	C	C	T	rs140650845	byFrequency	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr18:61323102C>T	ENST00000283752.5	-	8	1105	c.962G>A	c.(961-963)cGc>cAc	p.R321H	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.R269H	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	321					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CACGAGACCGCGGCTCCCGGT	0.542													c|||	2	0.000399361	0.0008	0.0	5008	,	,		18379	0.0		0.001	False		,,,				2504	0.0					uc002lji.3																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(961-963)cGc>cAc		Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.							139.0	125.0	129.0					18																	61323102		2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61323102C>T	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.962G>A	18.37:g.61323102C>T	ENSP00000283752:p.Arg321His					SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.R269H	p.R321H	NM_006919	NP_008850	P29508	SPB3_HUMAN			7	1106	-			321					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.962G>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	c	9.709	1.156625	0.21454	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.84442	-1.85;-1.85	3.07	-6.15	0.02105	Serpin domain (3);	1.857430	0.03786	N	0.262047	D	0.84215	0.5423	M	0.67953	2.075	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.17433	0.018;0.005	T	0.68648	-0.5353	10	0.45353	T	0.12	.	16.4117	0.83717	0.0:0.1443:0.0:0.8557	.	269;321	P29508-2;P29508	.;SPB3_HUMAN	H	321;269	ENSP00000283752:R321H;ENSP00000329498:R269H	ENSP00000283752:R321H	R	-	2	0	SERPINB3	59474082	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-6.372000	0.00068	-1.952000	0.01027	-0.384000	0.06662	CGC		0.542	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919	
VAV1	7409	broad.mit.edu	37	19	6828653	6828653	+	Silent	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:6828653C>T	ENST00000602142.1	+	12	1195	c.1113C>T	c.(1111-1113)aaC>aaT	p.N371N	VAV1_ENST00000596764.1_Silent_p.N339N|VAV1_ENST00000304076.2_Silent_p.N371N|VAV1_ENST00000539284.1_Silent_p.N274N|VAV1_ENST00000599806.1_Silent_p.N316N	NM_005428.3	NP_005419.2	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	371	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|reactive oxygen species metabolic process (GO:0072593)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|regulation of transcription, DNA-templated (GO:0006355)|small GTPase mediated signal transduction (GO:0007264)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	cell-cell junction (GO:0005911)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGTGCGTGAACGAGGTCAAGC	0.637																																						uc002mfu.1																			0				biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						c.(1111-1113)aaC>aaT		Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.							126.0	129.0	128.0					19																	6828653		2203	4300	6503	SO:0001819	synonymous_variant	7409				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:6828653C>T		CCDS12174.1, CCDS59341.1, CCDS59342.1	19p13.2	2013-02-14	2007-07-25			ENSG00000141968		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12657	protein-coding gene	gene with protein product		164875	"""vav 1 oncogene"""	VAV		9438848	Standard	NM_005428		Approved		uc010xjh.2	P15498		ENST00000602142.1:c.1113C>T	19.37:g.6828653C>T						VAV1_uc010xjh.1_Silent_p.N339N|VAV1_uc010dva.1_Silent_p.N371N|VAV1_uc002mfv.1_Silent_p.N316N	p.N371N	NM_005428	NP_005419	P15498	VAV_HUMAN			11	1210	+			371			DH.		B4DVK9|M0QXX6|Q15860	Silent	SNP	ENST00000602142.1	37	c.1113C>T	CCDS12174.1																																																																																				0.637	VAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458475.1		
TMEM205	374882	broad.mit.edu	37	19	11453778	11453778	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:11453778T>G	ENST00000354882.5	-	3	709	c.283A>C	c.(283-285)Agc>Cgc	p.S95R	TMEM205_ENST00000588560.1_Missense_Mutation_p.S95R|TMEM205_ENST00000587948.1_Missense_Mutation_p.S95R|TMEM205_ENST00000586218.1_Missense_Mutation_p.S34R|TMEM205_ENST00000589555.1_Missense_Mutation_p.S95R|TMEM205_ENST00000586956.1_Missense_Mutation_p.S95R|RAB3D_ENST00000589655.1_Intron|CCDC159_ENST00000588790.1_5'Flank|TMEM205_ENST00000447337.1_Missense_Mutation_p.S95R|TMEM205_ENST00000586590.1_Missense_Mutation_p.S95R|TMEM205_ENST00000593256.2_Missense_Mutation_p.S95R			Q6UW68	TM205_HUMAN	transmembrane protein 205	95						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				endometrium(1)|lung(1)	2						AGCGTAAGGCTCAGGAACAGC	0.642																																						uc002mra.2																			0				endometrium(1)|lung(1)	2						c.(283-285)Agc>Cgc		Homo sapiens transmembrane protein 205 (TMEM205), transcript variant 2, mRNA.							40.0	42.0	41.0					19																	11453778		2203	4300	6503	SO:0001583	missense	374882					integral to membrane		g.chr19:11453778T>G	AK127147	CCDS32909.1	19p13.2	2008-01-09				ENSG00000105518			29631	protein-coding gene	gene with protein product		613771				12975309	Standard	NM_198536		Approved	UNQ501, MBC3205	uc002mrb.2	Q6UW68		ENST00000354882.5:c.283A>C	19.37:g.11453778T>G	ENSP00000346954:p.Ser95Arg					TMEM205_uc002mrb.2_Missense_Mutation_p.S95R|TMEM205_uc002mqz.2_Missense_Mutation_p.S95R	p.S95R	NM_033408	NP_940938	Q6UW68	TM205_HUMAN			3	590	-			95						Missense_Mutation	SNP	ENST00000354882.5	37	c.283A>C	CCDS32909.1	.	.	.	.	.	.	.	.	.	.	T	9.857	1.195207	0.22037	.	.	ENSG00000105518	ENST00000354882;ENST00000447337	.	.	.	5.13	2.86	0.33363	.	0.441463	0.22206	U	0.063163	T	0.49830	0.1580	M	0.67700	2.07	0.32950	D	0.519638	P	0.43542	0.81	P	0.49887	0.625	T	0.59144	-0.7509	9	0.42905	T	0.14	-19.1544	4.595	0.12325	0.4973:0.0892:0.0:0.4135	.	95	Q6UW68	TM205_HUMAN	R	95	.	ENSP00000346954:S95R	S	-	1	0	TMEM205	11314778	1.000000	0.71417	0.991000	0.47740	0.206000	0.24218	3.162000	0.50755	0.871000	0.35750	0.533000	0.62120	AGC		0.642	TMEM205-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458743.1	NM_198536	
KMT2B	9757	broad.mit.edu	37	19	36210728	36210728	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:36210728C>A	ENST00000222270.7	+	3	479	c.479C>A	c.(478-480)cCc>cAc	p.P160H	KMT2B_ENST00000341701.1_Missense_Mutation_p.P160H|KMT2B_ENST00000420124.1_Missense_Mutation_p.P160H|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	160					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										AAGACGACCCCCCTTCCTCCT	0.612																																						uc021usv.1										"""N, F, Mis"""							"""medulloblastoma, renal"""		0				NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						c.(478-480)cCc>cAc		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.							71.0	78.0	76.0					19																	36210728		1956	4131	6087	SO:0001583	missense	9757				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	g.chr19:36210728C>A	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.479C>A	19.37:g.36210728C>A	ENSP00000222270:p.Pro160His	HNSCC(34;0.089)				MLL2_uc021usu.1_5'UTR	p.P160H	NM_014727	NP_055542	O14686	MLL2_HUMAN			2	479	+			1855					O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	ENST00000222270.7	37	c.479C>A	CCDS46055.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795395	0.70452	.	.	ENSG00000105663	ENST00000222270;ENST00000420124;ENST00000341701	D;D;T	0.85258	-1.96;-1.96;0.58	5.59	5.59	0.84812	.	0.000000	0.41500	D	0.000871	D	0.85991	0.5826	N	0.14661	0.345	0.38324	D	0.943611	D	0.89917	1.0	D	0.85130	0.997	D	0.89152	0.3524	10	0.87932	D	0	.	15.0853	0.72148	0.0:1.0:0.0:0.0	.	160	Q9UMN6	MLL4_HUMAN	H	160	ENSP00000222270:P160H;ENSP00000398837:P160H;ENSP00000345761:P160H	ENSP00000222270:P160H	P	+	2	0	AD000671.1	40902568	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	1.641000	0.37197	2.632000	0.89209	0.561000	0.74099	CCC		0.612	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727	
LILRA4	23547	broad.mit.edu	37	19	54848149	54848149	+	Silent	SNP	C	C	G	rs200134720		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:54848149C>G	ENST00000291759.4	-	6	1274	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	AC008984.2_ENST00000507363.1_RNA	NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	406	Ig-like C2-type 4.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TGGGGTGAGACAGCAGGTAGG	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		17657	0.001		0.0	False		,,,				2504	0.0					uc002qfj.3																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32						c.(1216-1218)ctG>ctC		Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.							118.0	96.0	103.0					19																	54848149		2203	4300	6503	SO:0001819	synonymous_variant	23547					integral to membrane	receptor activity	g.chr19:54848149C>G	AF041261	CCDS12890.1	19q13.4	2013-01-11			ENSG00000239961	ENSG00000239961		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15503	protein-coding gene	gene with protein product		607517				10941842	Standard	NM_012276		Approved	ILT7, CD85g	uc002qfj.3	P59901	OTTHUMG00000065355	ENST00000291759.4:c.1218G>C	19.37:g.54848149C>G						LILRA4_uc002qfi.3_Silent_p.L340L	p.L406L	NM_012276	NP_036408	P59901	LIRA4_HUMAN		GBM - Glioblastoma multiforme(193;0.0565)	5	1275	-	Ovarian(34;0.19)		406			Ig-like C2-type 4.		Q32MC4	Silent	SNP	ENST00000291759.4	37	c.1218G>C	CCDS12890.1																																																																																				0.592	LILRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140229.2	NM_012276	
ZIM3	114026	broad.mit.edu	37	19	57646590	57646590	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:57646590A>T	ENST00000269834.1	-	5	1500	c.1115T>A	c.(1114-1116)tTt>tAt	p.F372Y	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	372					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTCTGGATAAAGGTATTTCC	0.378																																						uc002qnz.1																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52						c.(1114-1116)tTt>tAt		Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.							128.0	130.0	129.0					19																	57646590		2203	4300	6503	SO:0001583	missense	114026				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57646590A>T	AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.1115T>A	19.37:g.57646590A>T	ENSP00000269834:p.Phe372Tyr						p.F372Y	NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	1501	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)	372					Q14CA6	Missense_Mutation	SNP	ENST00000269834.1	37	c.1115T>A	CCDS33125.1	.	.	.	.	.	.	.	.	.	.	A	12.76	2.035001	0.35893	.	.	ENSG00000141946	ENST00000269834	T	0.40476	1.03	2.71	2.71	0.32032	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.58177	0.2104	L	0.61387	1.9	0.09310	N	0.999998	D	0.76494	0.999	D	0.91635	0.999	T	0.41484	-0.9506	9	0.87932	D	0	.	8.871	0.35316	1.0:0.0:0.0:0.0	.	372	Q96PE6	ZIM3_HUMAN	Y	372	ENSP00000269834:F372Y	ENSP00000269834:F372Y	F	-	2	0	ZIM3	62338402	0.998000	0.40836	0.002000	0.10522	0.150000	0.21749	4.333000	0.59285	1.237000	0.43756	0.260000	0.18958	TTT		0.378	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1		
ASXL2	55252	broad.mit.edu	37	2	25966927	25966927	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:25966927G>T	ENST00000435504.4	-	13	2572	c.2279C>A	c.(2278-2280)cCa>cAa	p.P760Q	ASXL2_ENST00000404843.1_Missense_Mutation_p.P500Q|ASXL2_ENST00000272341.4_Missense_Mutation_p.P500Q|ASXL2_ENST00000336112.4_Missense_Mutation_p.P732Q			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	760					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCTGGCTTGGGGTGGTCTT	0.587																																						uc002rgs.2																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33						c.(2278-2280)cCa>cAa		Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.							97.0	100.0	99.0					2																	25966927		2026	4184	6210	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25966927G>T			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.2279C>A	2.37:g.25966927G>T	ENSP00000391447:p.Pro760Gln					ASXL2_uc002rgt.1_Missense_Mutation_p.P500Q	p.P760Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			11	2500	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		760					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.2279C>A		.	.	.	.	.	.	.	.	.	.	G	13.45	2.239719	0.39598	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.20738	2.06;2.05;2.14;2.14	5.94	5.06	0.68205	.	0.218764	0.40818	N	0.001010	T	0.17619	0.0423	L	0.29908	0.895	0.26392	N	0.976564	B;P	0.49961	0.073;0.93	B;P	0.44860	0.032;0.462	T	0.12967	-1.0527	10	0.87932	D	0	-0.1997	8.975	0.35930	0.0773:0.0:0.7726:0.1502	.	500;760	Q76L83-2;Q76L83	.;ASXL2_HUMAN	Q	760;732;500;500	ENSP00000391447:P760Q;ENSP00000337250:P732Q;ENSP00000383920:P500Q;ENSP00000272341:P500Q	ENSP00000272341:P500Q	P	-	2	0	ASXL2	25820431	1.000000	0.71417	0.792000	0.32020	0.940000	0.58332	3.865000	0.56033	2.816000	0.96949	0.563000	0.77884	CCA		0.587	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263	
TMEM214	54867	broad.mit.edu	37	2	27263616	27263616	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:27263616A>T	ENST00000238788.9	+	17	2043	c.1981A>T	c.(1981-1983)Agt>Tgt	p.S661C	TMEM214_ENST00000404032.3_Missense_Mutation_p.S616C	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	661					apoptotic process (GO:0006915)	cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GACACAGCTCAGTGAGGCTGT	0.532																																						uc002ria.4																			0				kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						c.(1981-1983)Agt>Tgt		Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.							98.0	100.0	99.0					2																	27263616		2103	4223	6326	SO:0001583	missense	54867					integral to membrane	protein binding	g.chr2:27263616A>T		CCDS42664.1, CCDS46242.1	2p23.3	2013-06-19			ENSG00000119777	ENSG00000119777			25983	protein-coding gene	gene with protein product						23661706	Standard	NM_001083590		Approved	FLJ20254	uc002ria.4	Q6NUQ4	OTTHUMG00000151999	ENST00000238788.9:c.1981A>T	2.37:g.27263616A>T	ENSP00000238788:p.Ser661Cys					TMEM214_uc002rib.4_Missense_Mutation_p.S616C	p.S661C	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN			16	2091	+			661					A6NNF2|B3KUI9|B5MCD8|D6W547|Q53SW1|Q69YH4|Q8NC45|Q8WZ37|Q9NXH2	Missense_Mutation	SNP	ENST00000238788.9	37	c.1981A>T	CCDS42664.1	.	.	.	.	.	.	.	.	.	.	A	15.42	2.829413	0.50845	.	.	ENSG00000119777	ENST00000238788;ENST00000404032;ENST00000537397	T;T	0.49720	0.77;0.77	5.62	-1.13	0.09775	.	0.484707	0.23194	N	0.050867	T	0.50429	0.1615	L	0.57536	1.79	0.09310	N	1	D;D	0.56287	0.975;0.975	P;P	0.56823	0.771;0.807	T	0.45175	-0.9279	10	0.66056	D	0.02	-0.0689	5.5763	0.17225	0.5739:0.1346:0.2915:0.0	.	616;661	Q6NUQ4-2;Q6NUQ4	.;TM214_HUMAN	C	661;616;401	ENSP00000238788:S661C;ENSP00000384417:S616C	ENSP00000238788:S661C	S	+	1	0	TMEM214	27117120	0.015000	0.18098	0.039000	0.18376	0.526000	0.34562	0.238000	0.18004	-0.419000	0.07439	0.454000	0.30748	AGT		0.532	TMEM214-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324748.1	NM_017727	
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	RNA	SNP	C	C	G	rs17857355	byFrequency	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:114355998C>G	ENST00000538033.2	+	0	2178							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCAAGGTGGGCACTTGATGTC	0.612																																						uc002tkh.3																			0											c.(616-618)Cac>Gac		Homo sapiens WAS protein family homolog 2 pseudogene (WASH2P), non-coding RNA.																																						375260							g.chr2:114355998C>G			2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355998C>G						WASH2P_uc002tka.3_Non-coding_Transcript|WASH2P_uc002tkd.3_Non-coding_Transcript	p.H206D							4	674	+									Missense_Mutation	SNP	ENST00000538033.2	37	c.616C>G																																																																																					0.612	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1	NM_198943	
THSD7B	80731	broad.mit.edu	37	2	138421119	138421119	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:138421119G>T	ENST00000409968.1	+	26	4803	c.4625G>T	c.(4624-4626)gGa>gTa	p.G1542V	THSD7B_ENST00000272643.3_Missense_Mutation_p.G1545V|THSD7B_ENST00000413152.2_Missense_Mutation_p.G1514V			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1544						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTTTTAAAGGATGGTCTCTT	0.368																																						uc002tva.1																			0				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134						c.(4534-4536)gGa>gTa		Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.							37.0	35.0	36.0					2																	138421119		1800	4076	5876	SO:0001583	missense	80731							g.chr2:138421119G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4625G>T	2.37:g.138421119G>T	ENSP00000387145:p.Gly1542Val					THSD7B_uc010zbj.1_Non-coding_Transcript	p.G1512V	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	24	4535	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.4535G>T		.	.	.	.	.	.	.	.	.	.	.	15.09	2.730025	0.48939	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.23348	2.43;2.3;1.91	6.01	4.13	0.48395	.	0.162190	0.56097	D	0.000035	T	0.36054	0.0953	L	0.44542	1.39	0.80722	D	1	D	0.65815	0.995	P	0.58660	0.843	T	0.13818	-1.0495	10	0.72032	D	0.01	.	11.4043	0.49889	0.0674:0.1267:0.8059:0.0	.	1514	C9JKN6	.	V	1542;1545;1514	ENSP00000387145:G1542V;ENSP00000272643:G1545V;ENSP00000413841:G1514V	ENSP00000272643:G1545V	G	+	2	0	THSD7B	138137589	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.005000	0.70716	1.562000	0.49601	0.644000	0.83932	GGA		0.368	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9	
SCN3A	6328	broad.mit.edu	37	2	165996030	165996030	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:165996030T>C	ENST00000360093.3	-	14	2599	c.2108A>G	c.(2107-2109)cAa>cGa	p.Q703R	SCN3A_ENST00000283254.7_Missense_Mutation_p.Q703R|SCN3A_ENST00000409101.3_Missense_Mutation_p.Q654R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	703					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CACGGCTCTTTGCCTTCCAGA	0.463																																						uc002ucx.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(2107-2109)cAa>cGa		Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	Lamotrigine(DB00555)						167.0	143.0	151.0					2																	165996030		2203	4300	6503	SO:0001583	missense	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:165996030T>C	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.2108A>G	2.37:g.165996030T>C	ENSP00000353206:p.Gln703Arg					SCN3A_uc002ucy.3_Missense_Mutation_p.Q654R|SCN3A_uc002ucz.3_Missense_Mutation_p.Q654R|SCN3A_uc002uda.1_Missense_Mutation_p.Q523R|SCN3A_uc002udb.1_Missense_Mutation_p.Q523R	p.Q703R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN			13	2600	-			703					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Missense_Mutation	SNP	ENST00000360093.3	37	c.2108A>G		.	.	.	.	.	.	.	.	.	.	T	18.02	3.530645	0.64860	.	.	ENSG00000153253	ENST00000360093;ENST00000283254;ENST00000409101;ENST00000440431	D;D;D;D	0.96011	-2.7;-2.7;-3.88;-3.75	5.65	5.65	0.86999	Domain of unknown function DUF3451 (1);	0.097992	0.45867	D	0.000336	D	0.97430	0.9159	M	0.83692	2.655	0.80722	D	1	P;B;B;B;P	0.48998	0.918;0.131;0.008;0.008;0.899	P;B;B;B;B	0.59825	0.864;0.039;0.022;0.022;0.408	D	0.98025	1.0373	10	0.72032	D	0.01	.	16.1611	0.81712	0.0:0.0:0.0:1.0	.	703;654;654;654;703	Q9NY46;E7EUE6;Q9NY46-2;Q9NY46-4;Q9NY46-3	SCN3A_HUMAN;.;.;.;.	R	703;703;654;654	ENSP00000353206:Q703R;ENSP00000283254:Q703R;ENSP00000386726:Q654R;ENSP00000403348:Q654R	ENSP00000283254:Q703R	Q	-	2	0	SCN3A	165704276	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.272000	0.75746	0.460000	0.39030	CAA		0.463	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922	
TTN	7273	broad.mit.edu	37	2	179610349	179610349	+	Intron	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:179610349C>A	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.G5593V|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000582847.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			CTCAGCCATTCCTGATTTGTT	0.378																																						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								Homo sapiens titin (TTN), transcript variant N2-A, mRNA.							87.0	81.0	83.0					2																	179610349		2203	4299	6502	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179610349C>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.10361-3701G>T	2.37:g.179610349C>A						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript|TTN_uc002unb.2_Missense_Mutation_p.G5593V		NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)				-								A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37			.	.	.	.	.	.	.	.	.	.	C	17.76	3.468475	0.63625	.	.	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.75050	-0.9	6.17	6.17	0.99709	.	.	.	.	.	D	0.92848	0.7725	H	0.98738	4.315	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94662	0.7849	9	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	5593	Q8WZ42-6	.	V	5593;874	ENSP00000354117:G5593V	ENSP00000304714:G874V	G	-	2	0	TTN	179318594	1.000000	0.71417	0.857000	0.33713	0.656000	0.38851	7.174000	0.77620	2.941000	0.99782	0.655000	0.94253	GGA		0.378	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
DNAJC10	54431	broad.mit.edu	37	2	183597246	183597246	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:183597246C>T	ENST00000264065.7	+	10	1241	c.826C>T	c.(826-828)Cga>Tga	p.R276*	DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.R276*	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10	276	Trxb 1.				cell redox homeostasis (GO:0045454)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of ATPase activity (GO:0032781)|protein folding in endoplasmic reticulum (GO:0034975)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|chaperone binding (GO:0051087)|disulfide oxidoreductase activity (GO:0015036)|Hsp70 protein binding (GO:0030544)|misfolded protein binding (GO:0051787)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide oxidoreductase activity (GO:0015035)			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCACAGACACGACTCAGGCT	0.348																																					Pancreas(56;860 1183 25669 35822 48585)	uc002uow.1																			0				breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32						c.(826-828)Cga>Tga		Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.							147.0	142.0	144.0					2																	183597246		2203	4300	6503	SO:0001587	stop_gained	54431				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding	g.chr2:183597246C>T		CCDS33345.1, CCDS74613.1	2q32.1	2011-11-23			ENSG00000077232	ENSG00000077232		"""Heat shock proteins / DNAJ (HSP40)"", ""Protein disulfide isomerases"""	24637	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 19"""	607987				12411443, 12446677	Standard	NM_018981		Approved	ERdj5, PDIA19	uc002uow.2	Q8IXB1	OTTHUMG00000154209	ENST00000264065.7:c.826C>T	2.37:g.183597246C>T	ENSP00000264065:p.Arg276*					DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Nonsense_Mutation_p.R276*|DNAJC10_uc010fro.1_Intron	p.R276*	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)		9	1241	+			276					Q17RJ6|Q3B7W8|Q4ZG06|Q53QT7|Q6UWZ6|Q86T61|Q8NC82|Q8TD87|Q96K38|Q96K44|Q96K54|Q9NSY6	Nonsense_Mutation	SNP	ENST00000264065.7	37	c.826C>T	CCDS33345.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373645	0.82573	.	.	ENSG00000077232	ENST00000264065;ENST00000392392;ENST00000537515	.	.	.	5.47	4.59	0.56863	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.4538	0.61187	0.2844:0.7156:0.0:0.0	.	.	.	.	X	276	.	ENSP00000264065:R276X	R	+	1	2	DNAJC10	183305491	0.999000	0.42202	1.000000	0.80357	0.997000	0.91878	2.268000	0.43338	1.433000	0.47394	0.655000	0.94253	CGA		0.348	DNAJC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334418.2	NM_018981	
MOB4	25843	broad.mit.edu	37	2	198415097	198415097	+	Missense_Mutation	SNP	T	T	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:198415097T>C	ENST00000323303.4	+	7	788	c.533T>C	c.(532-534)tTt>tCt	p.F178S	MOB4_ENST00000497443.1_3'UTR|MOB4_ENST00000409360.1_Missense_Mutation_p.F146S|HSPE1-MOB4_ENST00000604458.1_Missense_Mutation_p.F214S|MOB4_ENST00000409916.1_Missense_Mutation_p.F79S|MOB4_ENST00000233892.4_Missense_Mutation_p.F146S|MOB4_ENST00000448447.2_Missense_Mutation_p.F157S	NM_001202485.1|NM_015387.4	NP_001189414.1|NP_056202.2	Q9Y3A3	PHOCN_HUMAN	MOB family member 4, phocein	178					transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	metal ion binding (GO:0046872)										CGGCAGATATTTGATGAATAT	0.313																																						uc021vum.1																			0											c.(640-642)tTt>tCt		Homo sapiens HSPE1-MOB4 readthrough (HSPE1-MOB4), mRNA.							100.0	101.0	101.0					2																	198415097		2203	4300	6503	SO:0001583	missense	25843							g.chr2:198415097T>C	AF151853	CCDS2321.1, CCDS2322.1, CCDS46480.1	2q33.1	2011-09-28	2011-09-28	2011-09-28	ENSG00000115540	ENSG00000115540		"""MOB kinase activators"""	17261	protein-coding gene	gene with protein product	"""phocein"", ""phocein, Mob-like protein"""	609361	"""preimplantation protein 3"", ""MOB1, Mps One Binder kinase activator-like 3 (yeast)"""	PREI3, MOBKL3		17853115, 10810093, 11230166, 11319234	Standard	NM_199482		Approved	MOB3, DKFZP564M112, CGI-95, 2C4D, PHOCN		Q9Y3A3	OTTHUMG00000132748	ENST00000323303.4:c.533T>C	2.37:g.198415097T>C	ENSP00000315702:p.Phe178Ser					HSPE1-MOB4_uc002uum.4_Missense_Mutation_p.F146S|HSPE1-MOB4_uc002uun.4_Missense_Mutation_p.F178S|HSPE1-MOB4_uc010fsn.3_Missense_Mutation_p.F157S|HSPE1-MOB4_uc010fso.3_Missense_Mutation_p.F79S|HSPE1-MOB4_uc010zgz.2_Missense_Mutation_p.F79S|HSPE1-MOB4_uc021vun.1_Missense_Mutation_p.F146S	p.F214S	NM_001202485	NP_001189414					7	1081	+								B4DML0|Q53SE0|Q7Z4Y6|Q9H2P3|Q9H5J1|Q9Y4T8	Missense_Mutation	SNP	ENST00000323303.4	37	c.641T>C	CCDS2321.1	.	.	.	.	.	.	.	.	.	.	T	19.92	3.916137	0.73098	.	.	ENSG00000115540	ENST00000233892;ENST00000409916;ENST00000323303;ENST00000448447;ENST00000409360	.	.	.	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.85894	0.5803	M	0.93720	3.45	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.72982	0.951;0.979	D	0.89689	0.3896	9	0.87932	D	0	.	15.5923	0.76543	0.0:0.0:0.0:1.0	.	157;178	Q9Y3A3-3;Q9Y3A3	.;PHOCN_HUMAN	S	146;79;178;157;146	.	ENSP00000233892:F146S	F	+	2	0	PHOCN	198123342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.739000	0.84976	2.323000	0.78572	0.528000	0.53228	TTT		0.313	MOB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256110.4	NM_015387	
PLCL1	5334	broad.mit.edu	37	2	198950332	198950332	+	Silent	SNP	G	G	A	rs147854527		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:198950332G>A	ENST00000428675.1	+	2	2489	c.2091G>A	c.(2089-2091)ccG>ccA	p.P697P	PLCL1_ENST00000437704.2_Silent_p.P599P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	697	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTCTAAGGCCGTCTATAATGC	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		19054	0.001		0.0	False		,,,				2504	0.0					uc010fsp.3																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(2089-2091)ccG>ccA		Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	Quinacrine(DB01103)						91.0	91.0	91.0					2																	198950332		2203	4300	6503	SO:0001819	synonymous_variant	5334				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr2:198950332G>A	D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2091G>A	2.37:g.198950332G>A						PLCL1_uc002uuv.4_Silent_p.P618P	p.P697P	NM_006226	NP_006217	Q15111	PLCL1_HUMAN			1	2489	+			697			PI-PLC Y-box.		Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	ENST00000428675.1	37	c.2091G>A	CCDS2326.2																																																																																				0.458	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340210.1	NM_006226	
ZDBF2	57683	broad.mit.edu	37	2	207174816	207174816	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:207174816T>G	ENST00000374423.3	+	5	5950	c.5564T>G	c.(5563-5565)tTc>tGc	p.F1855C		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1855							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAAGGTCGTTTCCACTGTTAC	0.418																																						uc002vbp.2																			0				endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(5563-5565)tTc>tGc		Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.							79.0	75.0	76.0					2																	207174816		1881	4114	5995	SO:0001583	missense	57683						nucleic acid binding|zinc ion binding	g.chr2:207174816T>G	AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.5564T>G	2.37:g.207174816T>G	ENSP00000363545:p.Phe1855Cys						p.F1855C	NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN			4	5814	+			1855					Q6ZNP7|Q6ZSN8	Missense_Mutation	SNP	ENST00000374423.3	37	c.5564T>G	CCDS46501.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.812902	0.70912	.	.	ENSG00000204186	ENST00000374423	T	0.60672	0.17	5.48	4.29	0.51040	.	.	.	.	.	T	0.68979	0.3060	L	0.50333	1.59	0.34529	D	0.709006	D	0.89917	1.0	D	0.79108	0.992	T	0.77661	-0.2504	9	0.87932	D	0	.	11.6856	0.51483	0.1328:0.0:0.0:0.8672	.	1855	Q9HCK1	ZDBF2_HUMAN	C	1855	ENSP00000363545:F1855C	ENSP00000363545:F1855C	F	+	2	0	ZDBF2	206883061	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.816000	0.48026	0.886000	0.36113	0.451000	0.29950	TTC		0.418	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336458.1	NM_020923	
SEMG1	6406	broad.mit.edu	37	20	43836974	43836974	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr20:43836974A>G	ENST00000372781.3	+	2	1093	c.1036A>G	c.(1036-1038)Ata>Gta	p.I346V	SEMG1_ENST00000244069.6_Missense_Mutation_p.I286V	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	346	2 X 60 AA tandem repeats, type 1.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GGCAAATAAAATATCATACCA	0.393																																						uc010ggz.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36								Homo sapiens semenogelin II (SEMG2), mRNA.							82.0	76.0	78.0					20																	43836974		2203	4300	6503	SO:0001583	missense	6406				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	g.chr20:43836974A>G		CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.1036A>G	20.37:g.43836974A>G	ENSP00000361867:p.Ile346Val					SEMG2_uc002xni.2_Missense_Mutation_p.I346V|SEMG2_uc002xnj.2_Missense_Mutation_p.I286V		NM_003008	NP_002999	Q02383	SEMG2_HUMAN					+		Myeloproliferative disorder(115;0.0122)						Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Missense_Mutation	SNP	ENST00000372781.3	37		CCDS13345.1	.	.	.	.	.	.	.	.	.	.	A	0.007	-2.018347	0.00418	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	T;T	0.08720	3.06;3.06	1.59	1.59	0.23543	.	.	.	.	.	T	0.07324	0.0185	L	0.58428	1.81	0.09310	N	1	B;B	0.15719	0.004;0.014	B;B	0.20384	0.002;0.029	T	0.47129	-0.9141	9	0.05959	T	0.93	.	5.2631	0.15584	1.0:0.0:0.0:0.0	.	286;346	P04279-2;P04279	.;SEMG1_HUMAN	V	286;346	ENSP00000244069:I286V;ENSP00000361867:I346V	ENSP00000244069:I286V	I	+	1	0	SEMG1	43270388	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.256000	0.18351	0.986000	0.38683	0.332000	0.21555	ATA		0.393	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079416.3	NM_003007	
UBASH3A	53347	broad.mit.edu	37	21	43846877	43846877	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr21:43846877G>A	ENST00000319294.6	+	8	1149	c.1118G>A	c.(1117-1119)gGg>gAg	p.G373E	UBASH3A_ENST00000398367.1_Missense_Mutation_p.G335E|UBASH3A_ENST00000291535.6_Missense_Mutation_p.G335E	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	373					negative regulation of T cell receptor signaling pathway (GO:0050860)|regulation of cytokine production (GO:0001817)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AGATGCAGCGGGGAATTTCTT	0.473																																						uc002zbe.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						c.(1117-1119)gGg>gAg		Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.							114.0	101.0	105.0					21																	43846877		2203	4300	6503	SO:0001583	missense	53347					cytosol|nucleus		g.chr21:43846877G>A	AJ277750	CCDS13687.1, CCDS33566.1, CCDS58791.1	21q22.3	2010-04-28	2010-04-28		ENSG00000160185	ENSG00000160185			12462	protein-coding gene	gene with protein product		605736				11281453	Standard	NM_018961		Approved	STS-2, TULA, CLIP4	uc002zbf.3	P57075	OTTHUMG00000086805	ENST00000319294.6:c.1118G>A	21.37:g.43846877G>A	ENSP00000317327:p.Gly373Glu					UBASH3A_uc002zbf.3_Missense_Mutation_p.G335E|UBASH3A_uc010gpe.3_Missense_Mutation_p.G335E|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	p.G373E	NM_018961	NP_061834	P57075	UBS3A_HUMAN			7	1202	+			373					G5E9E4|Q6HA34|Q6HA35|Q6ISI6|Q6ISK3|Q6ISS9	Missense_Mutation	SNP	ENST00000319294.6	37	c.1118G>A	CCDS13687.1	.	.	.	.	.	.	.	.	.	.	G	0.687	-0.796036	0.02862	.	.	ENSG00000160185	ENST00000291535;ENST00000319294;ENST00000398367	T;T;T	0.08807	3.22;3.22;3.05	4.19	0.184	0.15086	.	0.953093	0.08744	N	0.900057	T	0.04182	0.0116	N	0.24115	0.695	0.09310	N	1	B;B;B	0.25850	0.047;0.023;0.136	B;B;B	0.24541	0.054;0.023;0.036	T	0.44205	-0.9343	10	0.07030	T	0.85	-16.3933	2.7709	0.05334	0.1026:0.348:0.3708:0.1786	.	335;335;373	G5E9E4;P57075-2;P57075	.;.;UBS3A_HUMAN	E	335;373;335	ENSP00000291535:G335E;ENSP00000317327:G373E;ENSP00000381408:G335E	ENSP00000291535:G335E	G	+	2	0	UBASH3A	42719946	0.013000	0.17824	0.000000	0.03702	0.000000	0.00434	0.949000	0.29109	0.145000	0.18977	-1.083000	0.02208	GGG		0.473	UBASH3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000195382.1	NM_001001895	
GRAP2	9402	broad.mit.edu	37	22	40364194	40364194	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr22:40364194A>C	ENST00000344138.4	+	6	871	c.608A>C	c.(607-609)cAg>cCg	p.Q203P	GRAP2_ENST00000399090.2_Missense_Mutation_p.Q90P|GRAP2_ENST00000544756.1_Missense_Mutation_p.Q131P|GRAP2_ENST00000407075.3_Missense_Mutation_p.Q203P|GRAP2_ENST00000543252.1_Missense_Mutation_p.Q163P|GRAP2_ENST00000540310.1_Missense_Mutation_p.Q137P	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	203					cell-cell signaling (GO:0007267)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of signal transduction (GO:0009967)|Ras protein signal transduction (GO:0007265)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|nucleus (GO:0005634)	SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						caccagccacagcctccgcaa	0.617																																						uc003ayh.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						c.(607-609)cAg>cCg		Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.							38.0	32.0	34.0					22																	40364194		2201	4299	6500	SO:0001583	missense	9402				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity	g.chr22:40364194A>C	AF102694	CCDS13999.1	22q13.2	2013-02-14			ENSG00000100351	ENSG00000100351		"""SH2 domain containing"""	4563	protein-coding gene	gene with protein product		604518				9878555, 10224278	Standard	XM_005261836		Approved	Grf40, GrbX, GRBLG, GADS, Mona	uc003ayh.2	O75791	OTTHUMG00000151097	ENST00000344138.4:c.608A>C	22.37:g.40364194A>C	ENSP00000339186:p.Gln203Pro					GRAP2_uc011aom.2_Missense_Mutation_p.Q177P|GRAP2_uc011aon.2_Missense_Mutation_p.Q137P|GRAP2_uc010gya.2_Missense_Mutation_p.Q203P|GRAP2_uc011aoo.2_Missense_Mutation_p.Q131P|GRAP2_uc011aop.2_Missense_Mutation_p.Q163P|GRAP2_uc011aoq.2_Missense_Mutation_p.Q90P|GRAP2_uc003ayj.2_Missense_Mutation_p.Q203P	p.Q203P	NM_004810	NP_004801	O75791	GRAP2_HUMAN			5	871	+			203					B7Z8I3|O43726|Q9NRB7	Missense_Mutation	SNP	ENST00000344138.4	37	c.608A>C	CCDS13999.1	.	.	.	.	.	.	.	.	.	.	A	4.949	0.176390	0.09443	.	.	ENSG00000100351	ENST00000344138;ENST00000543252;ENST00000544006;ENST00000540310;ENST00000544756;ENST00000399090;ENST00000407075	T;T;T;T;T;T	0.74106	-0.27;-0.81;1.62;1.03;1.77;-0.27	3.54	-6.64	0.01801	.	3.660900	0.01244	U	0.008684	T	0.45915	0.1366	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.33675	-0.9859	10	0.28530	T	0.3	-0.6292	4.2897	0.10872	0.2855:0.1986:0.0:0.5159	.	90;203;137;177;203	B7Z8I3;Q6FI14;F5H548;B7Z8F8;O75791	.;.;.;.;GRAP2_HUMAN	P	203;163;177;137;131;90;203	ENSP00000339186:Q203P;ENSP00000446350:Q163P;ENSP00000444734:Q137P;ENSP00000442195:Q131P;ENSP00000382040:Q90P;ENSP00000385607:Q203P	ENSP00000339186:Q203P	Q	+	2	0	GRAP2	38694140	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.091000	0.11146	-0.879000	0.04002	-0.505000	0.04504	CAG		0.617	GRAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321295.1	NM_004810	
FBLN2	2199	broad.mit.edu	37	3	13679178	13679178	+	Missense_Mutation	SNP	G	G	A	rs369694803		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:13679178G>A	ENST00000295760.7	+	17	3383	c.3314G>A	c.(3313-3315)cGc>cAc	p.R1105H	FBLN2_ENST00000404922.3_Missense_Mutation_p.R1152H|FBLN2_ENST00000492059.1_Missense_Mutation_p.R1152H|FBLN2_ENST00000535798.1_Missense_Mutation_p.R1131H	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	1105	Domain III.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATATCTTCCGCATTGGCCCC	0.617																																						uc011avc.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(3454-3456)cGc>cAc		Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.		G	HIS/ARG,HIS/ARG,HIS/ARG	1,4325		0,1,2162	44.0	49.0	47.0		3455,3455,3314	4.7	1.0	3		47	0,8522		0,0,4261	no	missense,missense,missense	FBLN2	NM_001004019.1,NM_001165035.1,NM_001998.2	29,29,29	0,1,6423	AA,AG,GG		0.0,0.0231,0.0078	probably-damaging,probably-damaging,probably-damaging	1152/1232,1152/1232,1105/1185	13679178	1,12847	2163	4261	6424	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13679178G>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.3314G>A	3.37:g.13679178G>A	ENSP00000295760:p.Arg1105His					FBLN2_uc011auz.2_Missense_Mutation_p.R1131H|FBLN2_uc011avb.2_Missense_Mutation_p.R1105H|FBLN2_uc011ava.2_Missense_Mutation_p.R1152H	p.R1152H	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		17	3837	+			1105			Domain III.		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.3455G>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.896010	0.91962	2.31E-4	0.0	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.80909	-1.43;-1.43;-1.34;-1.43	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.89262	0.6665	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.89167	0.3534	10	0.45353	T	0.12	.	17.9076	0.88923	0.0:0.0:1.0:0.0	.	1105;1152;1131	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	H	1131;1152;1105;1152	ENSP00000445705:R1131H;ENSP00000384169:R1152H;ENSP00000295760:R1105H;ENSP00000420042:R1152H	ENSP00000295760:R1105H	R	+	2	0	FBLN2	13654179	1.000000	0.71417	1.000000	0.80357	0.723000	0.41478	9.569000	0.98170	2.456000	0.83038	0.563000	0.77884	CGC		0.617	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	
CASR	846	broad.mit.edu	37	3	121981197	121981197	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:121981197C>A	ENST00000490131.1	+	4	1687	c.1315C>A	c.(1315-1317)Cct>Act	p.P439T	CASR_ENST00000498619.1_Missense_Mutation_p.P439T|CASR_ENST00000296154.5_Missense_Mutation_p.P439T	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	439					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TACCTGCTTACCTGGGAGAGG	0.453																																						uc003eew.4																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1315-1317)Cct>Act		Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	Cinacalcet(DB01012)						100.0	99.0	100.0					3																	121981197		2203	4300	6503	SO:0001583	missense	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:121981197C>A	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.1315C>A	3.37:g.121981197C>A	ENSP00000418685:p.Pro439Thr					CASR_uc003eev.4_Missense_Mutation_p.P439T	p.P439T	NM_001178065	NP_001171536	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	3	1753	+			439					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Missense_Mutation	SNP	ENST00000490131.1	37	c.1315C>A	CCDS3010.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.871401	0.51695	.	.	ENSG00000036828	ENST00000490131;ENST00000498619;ENST00000296154	D;D;D	0.84873	-1.91;-1.91;-1.91	5.77	4.89	0.63831	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.90058	0.6895	L	0.50919	1.6	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.977	D	0.90356	0.4370	10	0.52906	T	0.07	.	15.8924	0.79309	0.0:0.8644:0.1356:0.0	.	439;439	E7ENE0;P41180	.;CASR_HUMAN	T	439	ENSP00000418685:P439T;ENSP00000420194:P439T;ENSP00000296154:P439T	ENSP00000296154:P439T	P	+	1	0	CASR	123463887	1.000000	0.71417	0.966000	0.40874	0.806000	0.45545	7.818000	0.86416	1.415000	0.47037	0.655000	0.94253	CCT		0.453	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388	
FETUB	26998	broad.mit.edu	37	3	186362631	186362631	+	Silent	SNP	C	C	T	rs267599724		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:186362631C>T	ENST00000265029.3	+	4	617	c.516C>T	c.(514-516)acC>acT	p.T172T	FETUB_ENST00000539949.1_Silent_p.T24T|FETUB_ENST00000450521.1_Silent_p.T172T|RP11-134F2.2_ENST00000455926.1_RNA|FETUB_ENST00000488561.1_3'UTR|RP11-134F2.2_ENST00000428501.1_RNA|FETUB_ENST00000382134.3_Silent_p.T107T|FETUB_ENST00000382136.3_Silent_p.T135T	NM_014375.2	NP_055190.2	Q9UGM5	FETUB_HUMAN	fetuin B	172	Cystatin fetuin-B-type 2. {ECO:0000255|PROSITE-ProRule:PRU00862}.				binding of sperm to zona pellucida (GO:0007339)|negative regulation of endopeptidase activity (GO:0010951)|single fertilization (GO:0007338)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGGCTGCCACCGAGTCTCTTG	0.473																																						uc010hyq.3																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20						c.(514-516)acC>acT		Homo sapiens fetuin B (FETUB), mRNA.							118.0	111.0	113.0					3																	186362631		2203	4300	6503	SO:0001819	synonymous_variant	26998					extracellular space	cysteine-type endopeptidase inhibitor activity	g.chr3:186362631C>T	AJ242928	CCDS3279.1	3q27.3	2008-05-15			ENSG00000090512	ENSG00000090512			3658	protein-coding gene	gene with protein product		605954				10947975	Standard	XM_005247350		Approved		uc003fqn.3	Q9UGM5	OTTHUMG00000156586	ENST00000265029.3:c.516C>T	3.37:g.186362631C>T						FETUB_uc011brz.2_Silent_p.T24T|FETUB_uc003fqn.3_Silent_p.T172T|FETUB_uc010hyr.3_Silent_p.T135T|FETUB_uc010hys.3_Silent_p.T24T|FETUB_uc003fqp.4_Silent_p.T107T	p.T172T	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)	4	777	+	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		172			Cystatin fetuin-B-type 2.		B2RCW6|E9PG06|Q1RMZ0|Q5J876|Q6DK58|Q6GRB6|Q9Y6Z0	Silent	SNP	ENST00000265029.3	37	c.516C>T	CCDS3279.1																																																																																				0.473	FETUB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344679.1	NM_014375	
RAB28	9364	broad.mit.edu	37	4	13383174	13383174	+	Missense_Mutation	SNP	G	G	C	rs139395840	byFrequency	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:13383174G>C	ENST00000330852.5	-	5	650	c.436C>G	c.(436-438)Cgg>Ggg	p.R146G	RAB28_ENST00000338176.4_Missense_Mutation_p.R146G|RAB28_ENST00000288723.4_Missense_Mutation_p.R146G	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	146					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.R146W(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TGGCAAAACCGTAAGTGTTTT	0.328																																						uc003gmu.2																			1	Substitution - Missense(1)	p.R146W(2)	ovary(1)	endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						c.(436-438)Cgg>Ggg		Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript variant 1, mRNA.							67.0	69.0	69.0					4																	13383174		2203	4300	6503	SO:0001583	missense	9364				small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr4:13383174G>C	X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"""RAB, member RAS oncogene"""	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.436C>G	4.37:g.13383174G>C	ENSP00000328551:p.Arg146Gly					RAB28_uc003gmv.2_Non-coding_Transcript|RAB28_uc003gmt.2_Missense_Mutation_p.R146G|RAB28_uc011bwz.1_Missense_Mutation_p.R146G	p.R146G	NM_001017979	NP_001017979	P51157	RAB28_HUMAN			4	651	-			146					G8JLC5|Q8IYR8|Q8NI05	Missense_Mutation	SNP	ENST00000330852.5	37	c.436C>G	CCDS33961.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	14.90|14.90|14.90	2.674645|2.674645|2.674645	0.47781|0.47781|0.47781	.|.|.	.|.|.	ENSG00000157869|ENSG00000157869|ENSG00000157869	ENST00000330852;ENST00000288723;ENST00000338176|ENST00000511649|ENST00000504644	T;T;T|.|.	0.76968|.|.	-1.06;-1.06;-1.06|.|.	5.87|5.87|5.87	2.09|2.09|2.09	0.27110|0.27110|0.27110	Small GTP-binding protein domain (1);|.|.	0.119762|.|.	0.56097|.|.	D|.|.	0.000037|.|.	T|T|.	0.53769|0.53769|.	0.1817|0.1817|.	L|L|L	0.43701|0.43701|0.43701	1.375|1.375|1.375	0.58432|0.58432|0.58432	D|D|D	0.999991|0.999991|0.999991	P;P|.|.	0.42337|.|.	0.776;0.533|.|.	B;B|.|.	0.42959|.|.	0.403;0.228|.|.	T|T|.	0.39143|0.39143|.	-0.9628|-0.9628|.	10|5|.	0.36615|.|.	T|.|.	0.2|.|.	.|.|.	9.5919|9.5919|9.5919	0.39550|0.39550|0.39550	0.0646:0.0:0.4075:0.5279|0.0646:0.0:0.4075:0.5279|0.0646:0.0:0.4075:0.5279	.|.|.	146;146|.|.	P51157;P51157-2|.|.	RAB28_HUMAN;.|.|.	G|R|X	146|68|15	ENSP00000328551:R146G;ENSP00000288723:R146G;ENSP00000340079:R146G|.|.	ENSP00000288723:R146G|.|.	R|T|Y	-|-|-	1|2|3	2|0|2	RAB28|RAB28|RAB28	12992272|12992272|12992272	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.707000|0.707000|0.707000	0.30419|0.30419|0.30419	0.997000|0.997000|0.997000	0.91878|0.91878|0.91878	1.971000|1.971000|1.971000	0.40530|0.40530|0.40530	0.064000|0.064000|0.064000	0.16427|0.16427|0.16427	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	CGG|ACG|TAC		0.328	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979	
NCAPG	64151	broad.mit.edu	37	4	17819684	17819684	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:17819684C>T	ENST00000251496.2	+	7	1267	c.1091C>T	c.(1090-1092)cCt>cTt	p.P364L		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	364					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TTGCCAGAGCCTGTAGTATAT	0.368																																						uc003gpp.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(1090-1092)cCt>cTt		Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.							122.0	130.0	127.0					4																	17819684		2202	4299	6501	SO:0001583	missense	64151				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding	g.chr4:17819684C>T	AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.1091C>T	4.37:g.17819684C>T	ENSP00000251496:p.Pro364Leu					NCAPG_uc011bxj.2_5'UTR	p.P364L	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN		STAD - Stomach adenocarcinoma(129;0.18)	6	1267	+			364					Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	ENST00000251496.2	37	c.1091C>T	CCDS3424.1	.	.	.	.	.	.	.	.	.	.	C	13.60	2.286359	0.40494	.	.	ENSG00000109805	ENST00000251496	T	0.26223	1.75	4.95	4.95	0.65309	Armadillo-type fold (1);	0.099222	0.64402	D	0.000001	T	0.20495	0.0493	N	0.21097	0.63	0.80722	D	1	B	0.13145	0.007	B	0.17433	0.018	T	0.03863	-1.0997	10	0.25751	T	0.34	-9.0596	18.5554	0.91081	0.0:1.0:0.0:0.0	.	364	Q9BPX3	CND3_HUMAN	L	364	ENSP00000251496:P364L	ENSP00000251496:P364L	P	+	2	0	NCAPG	17428782	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.481000	0.66826	2.463000	0.83235	0.655000	0.94253	CCT		0.368	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250375.1	NM_022346	
UGT2B27P	54569	broad.mit.edu	37	4	69870669	69870669	+	IGR	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:69870669C>A								UGT2A3 (53160 upstream) : UGT2B7 (46524 downstream)																							GCCACACAGGCCAGCAGGAAC	0.448																																						uc011cao.1																			0				endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						c.(1360-1362)Gcc>Tcc		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.							194.0	143.0	159.0					4																	69870669		692	1591	2283	SO:0001628	intergenic_variant	7365				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69870669C>A																													4.37:g.69870669C>A						UGT2B10_uc011can.1_Missense_Mutation_p.A370S	p.A454S			P36537	UDB10_HUMAN			7	1486	-			498						Missense_Mutation	SNP		37	c.1360G>T																																																																																				0	0.448								
ENAM	10117	broad.mit.edu	37	4	71508380	71508380	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:71508380G>T	ENST00000396073.3	+	9	1518	c.1237G>T	c.(1237-1239)Gta>Tta	p.V413L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	413					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAAACACCCTGTAGGAACTAC	0.468																																						uc011caw.1																			0				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6						c.(1237-1239)Gta>Tta		Homo sapiens enamelin (ENAM), mRNA.							75.0	80.0	78.0					4																	71508380		2202	4297	6499	SO:0001583	missense	10117				bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	g.chr4:71508380G>T	AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1237G>T	4.37:g.71508380G>T	ENSP00000379383:p.Val413Leu						p.V413L	NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Lung(101;0.235)		8	1518	+			413					Q17RI5|Q9H3D1	Missense_Mutation	SNP	ENST00000396073.3	37	c.1237G>T	CCDS3544.2	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.858844	0.00558	.	.	ENSG00000132464	ENST00000396073	T	0.30714	1.52	5.84	-11.6	0.00059	.	1.847910	0.02362	N	0.076980	T	0.33411	0.0862	M	0.75447	2.3	0.09310	N	1	B	0.02656	0.0	B	0.12156	0.007	T	0.48445	-0.9035	10	0.22109	T	0.4	14.9109	17.3503	0.87322	0.1039:0.1494:0.7467:0.0	.	413	Q9NRM1	ENAM_HUMAN	L	413	ENSP00000379383:V413L	ENSP00000379383:V413L	V	+	1	0	ENAM	71727244	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.827000	0.01704	-4.102000	0.00073	-2.939000	0.00087	GTA		0.468	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889	
MROH2B	133558	broad.mit.edu	37	5	41009468	41009468	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:41009468C>G	ENST00000399564.4	-	32	3784	c.3334G>C	c.(3334-3336)Gcc>Ccc	p.A1112P	MROH2B_ENST00000506092.2_Missense_Mutation_p.A667P	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	1112																	CCACTGGAGGCTGGCTTTTCA	0.498																																						uc003jmj.4																			0				breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						c.(3334-3336)Gcc>Ccc		Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.							105.0	106.0	105.0					5																	41009468		1857	4105	5962	SO:0001583	missense	133558						binding	g.chr5:41009468C>G		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.3334G>C	5.37:g.41009468C>G	ENSP00000382476:p.Ala1112Pro					HEATR7B2_uc003jmi.4_Missense_Mutation_p.A667P	p.A1112P	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			31	3824	-			1112					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.3334G>C	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657384	0.29425	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.07444	3.19;3.19	5.53	3.69	0.42338	Armadillo-like helical (1);Armadillo-type fold (1);	0.509094	0.19845	N	0.104778	T	0.05135	0.0137	N	0.17800	0.525	0.32648	N	0.519723	P	0.37864	0.61	B	0.37888	0.26	T	0.25257	-1.0137	10	0.18710	T	0.47	.	6.9657	0.24621	0.171:0.7412:0.0:0.0877	.	1112	Q7Z745	HTRB2_HUMAN	P	667;817;1112	ENSP00000441504:A667P;ENSP00000382476:A1112P	ENSP00000296803:A817P	A	-	1	0	HEATR7B2	41045225	0.994000	0.37717	1.000000	0.80357	0.194000	0.23727	0.251000	0.18257	1.580000	0.49851	0.655000	0.94253	GCC		0.498	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
PCDHGA3	56112	broad.mit.edu	37	5	140724302	140724302	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:140724302T>G	ENST00000253812.6	+	1	702	c.702T>G	c.(700-702)gaT>gaG	p.D234E	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	234	Cadherin 2. {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)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTCCTGGATGCAAATGACA	0.527																																						uc003ljm.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.(700-702)gaT>gaG		Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.							54.0	56.0	55.0					5																	140724302		2191	4296	6487	SO:0001583	missense	56112				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140724302T>G	AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.702T>G	5.37:g.140724302T>G	ENSP00000253812:p.Asp234Glu					PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.D234E	p.D234E	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	702	+			234			Cadherin 2.		Q9Y5D4	Missense_Mutation	SNP	ENST00000253812.6	37	c.702T>G	CCDS47290.1	.	.	.	.	.	.	.	.	.	.	.	17.10	3.303624	0.60305	.	.	ENSG00000254245	ENST00000253812	T	0.74106	-0.81	5.65	3.23	0.37069	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34200	U	0.004180	D	0.92084	0.7491	H	0.99919	4.95	0.24268	N	0.995253	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.84976	0.0885	10	0.87932	D	0	.	10.2331	0.43266	0.0:0.137:0.0:0.863	.	234;234	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	E	234	ENSP00000253812:D234E	ENSP00000253812:D234E	D	+	3	2	PCDHGA3	140704486	0.957000	0.32711	1.000000	0.80357	0.995000	0.86356	0.047000	0.14056	0.492000	0.27815	0.533000	0.62120	GAT		0.527	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377017.1	NM_018916	
PCDHGB4	8641	broad.mit.edu	37	5	140768648	140768648	+	Silent	SNP	G	G	A	rs371979686		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:140768648G>A	ENST00000519479.1	+	1	1197	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	399	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGAAACACGTATAAATTAG	0.433																																						uc003lkc.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.(1195-1197)acG>acA		Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.		G	,,,,,,,,,,,	0,3814		0,0,1907	126.0	127.0	127.0		1197,,,,,,,,,,,1197	-10.4	0.0	5		127	1,8259		0,1,4129	no	coding-synonymous,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,coding-synonymous	PCDHGB4,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_032098.1	,,,,,,,,,,,	0,1,6036	AA,AG,GG		0.0121,0.0,0.0083	,,,,,,,,,,,	399/924,,,,,,,,,,,399/804	140768648	1,12073	1907	4130	6037	SO:0001819	synonymous_variant	8641				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140768648G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1197G>A	5.37:g.140768648G>A						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_5'UTR	p.T399T	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		0	1197	+			403			Cadherin 4.		O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1197G>A	CCDS54928.1																																																																																				0.433	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736	
RNF130	55819	broad.mit.edu	37	5	179390508	179390508	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:179390508T>G	ENST00000521389.1	-	8	1622	c.1207A>C	c.(1207-1209)Atg>Ctg	p.M403L	RNF130_ENST00000522208.2_Intron|RNF130_ENST00000261947.4_Intron|CTC-563A5.2_ENST00000510240.1_RNA	NM_018434.4	NP_060904.2			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGATGATCATGTAGCAGAGT	0.443																																					GBM(24;432 554 38471 39699 51728)	uc003mll.1																			0				breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17						c.(1207-1209)Atg>Ctg		Homo sapiens ring finger protein 130 (RNF130), mRNA.							131.0	108.0	115.0					5																	179390508		2203	4300	6503	SO:0001583	missense	55819				apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	g.chr5:179390508T>G	AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000521389.1:c.1207A>C	5.37:g.179390508T>G	ENSP00000430237:p.Met403Leu					RNF130_uc003mlm.1_Intron	p.M403L	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		7	1614	-	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	403						Missense_Mutation	SNP	ENST00000521389.1	37	c.1207A>C	CCDS4451.1	.	.	.	.	.	.	.	.	.	.	T	17.02	3.283210	0.59867	.	.	ENSG00000113269	ENST00000521389	T	0.04083	3.71	5.95	5.95	0.96441	.	0.226336	0.45867	D	0.000326	T	0.07954	0.0199	N	0.14661	0.345	0.80722	D	1	P	0.35745	0.518	P	0.47827	0.558	T	0.43130	-0.9410	10	0.87932	D	0	.	16.397	0.83610	0.0:0.0:0.0:1.0	.	403	Q86XS8	GOLI_HUMAN	L	403	ENSP00000430237:M403L	ENSP00000430237:M403L	M	-	1	0	RNF130	179323114	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.543000	0.73874	2.275000	0.75901	0.459000	0.35465	ATG		0.443	RNF130-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253499.3	NM_018434	
TRIM7	81786	broad.mit.edu	37	5	180625194	180625194	+	Missense_Mutation	SNP	T	T	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:180625194T>A	ENST00000274773.7	-	6	1074	c.1013A>T	c.(1012-1014)aAa>aTa	p.K338I	TRIM7_ENST00000361809.3_Missense_Mutation_p.K130I|CTC-338M12.6_ENST00000419707.2_RNA|TRIM7_ENST00000393319.3_Missense_Mutation_p.K156I|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|CTC-338M12.6_ENST00000511517.1_RNA|TRIM7_ENST00000393315.1_Missense_Mutation_p.K130I|CTC-338M12.6_ENST00000514784.1_RNA|CTC-338M12.6_ENST00000502812.2_RNA|TRIM7_ENST00000422067.2_Missense_Mutation_p.K130I|CTC-338M12.6_ENST00000509080.1_RNA	NM_203293.1	NP_976038.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	338	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TTTCTCCTCTTTCTCCAGCTC	0.517																																					Esophageal Squamous(128;2258 2308 35507 48647)	uc003mmz.1																			0				NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17						c.(1012-1014)aAa>aTa		Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.							255.0	198.0	217.0					5																	180625194		2203	4300	6503	SO:0001583	missense	81786					cytoplasm|nucleus	zinc ion binding	g.chr5:180625194T>A	AF220032	CCDS4462.1, CCDS4463.1, CCDS4464.1, CCDS43414.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146054	ENSG00000146054		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16278	protein-coding gene	gene with protein product	"""glycogenin-interacting protein"", ""tripartite motif protein TRIM7"""	609315	"""tripartite motif-containing 7"""			11331580	Standard	NM_203294		Approved	RNF90, GNIP	uc003mmz.1	Q9C029	OTTHUMG00000130963	ENST00000274773.7:c.1013A>T	5.37:g.180625194T>A	ENSP00000274773:p.Lys338Ile					TRIM7_uc003mmv.1_Missense_Mutation_p.K156I|TRIM7_uc003mmw.1_Missense_Mutation_p.K130I|TRIM7_uc003mmy.1_Missense_Mutation_p.K130I|TRIM7_uc003mmx.1_Missense_Mutation_p.K130I	p.K338I	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)	5	1080	-	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	338			B30.2/SPRY.		A2RUE4|D3DWR7|Q969F5|Q96F67|Q96J89|Q96J90	Missense_Mutation	SNP	ENST00000274773.7	37	c.1013A>T	CCDS4462.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.089057	0.36855	.	.	ENSG00000146054	ENST00000274773;ENST00000393315;ENST00000361809;ENST00000393319;ENST00000422067	T;T;T;T;T	0.61392	0.47;0.16;0.16;0.11;0.16	5.22	5.22	0.72569	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.619156	0.14727	N	0.302014	T	0.71953	0.3401	M	0.65975	2.015	0.37036	D	0.89692	D;B	0.69078	0.997;0.001	D;B	0.66196	0.942;0.008	T	0.76364	-0.2986	10	0.66056	D	0.02	.	11.7802	0.52010	0.0:0.0:0.0:1.0	.	338;156	Q9C029;Q9C029-4	TRIM7_HUMAN;.	I	338;130;130;156;130	ENSP00000274773:K338I;ENSP00000376991:K130I;ENSP00000355059:K130I;ENSP00000376994:K156I;ENSP00000391458:K130I	ENSP00000274773:K338I	K	-	2	0	TRIM7	180557800	1.000000	0.71417	1.000000	0.80357	0.344000	0.29017	2.037000	0.41174	2.091000	0.63221	0.459000	0.35465	AAA		0.517	TRIM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253569.3	NM_203296	
LY6G6C	80740	broad.mit.edu	37	6	31687971	31687971	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:31687971C>A	ENST00000375819.2	-	2	227	c.62G>T	c.(61-63)cGc>cTc	p.R21L	LY6G6C_ENST00000495859.1_5'UTR	NM_025261.2	NP_079537.1	O95867	LY66C_HUMAN	lymphocyte antigen 6 complex, locus G6C	21	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GGAGTGACAGCGAATGTCAGC	0.592																																						uc003nwh.3																			0		p.R21C(1)		NS(1)|large_intestine(1)|lung(1)|skin(1)	4						c.(61-63)cGc>cTc		Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA.							95.0	74.0	81.0					6																	31687971		1510	2709	4219	SO:0001583	missense	80740					anchored to membrane|plasma membrane		g.chr6:31687971C>A		CCDS4714.1	6p21	2008-08-29	2002-07-29	2002-08-01	ENSG00000204421	ENSG00000204421			13936	protein-coding gene	gene with protein product		610435	"""chromosome 6 open reading frame 24"""	C6orf24		10384126, 12079290	Standard	NM_025261		Approved	G6c, NG24	uc003nwh.3	O95867	OTTHUMG00000031251	ENST00000375819.2:c.62G>T	6.37:g.31687971C>A	ENSP00000364978:p.Arg21Leu					LY6G6C_uc010jtd.3_Non-coding_Transcript	p.R21L	NM_025261	NP_079537	O95867	LY66C_HUMAN			1	117	-			21			UPAR/Ly6.		Q5SRS8|Q8IY94	Missense_Mutation	SNP	ENST00000375819.2	37	c.62G>T	CCDS4714.1	.	.	.	.	.	.	.	.	.	.	C	16.83	3.232533	0.58777	.	.	ENSG00000204421	ENST00000375819	D	0.90069	-2.61	5.11	4.24	0.50183	.	0.000000	0.47455	D	0.000225	T	0.77772	0.4180	L	0.27053	0.805	0.28413	N	0.918082	D	0.56746	0.977	P	0.53954	0.738	T	0.70528	-0.4847	10	0.19590	T	0.45	.	9.3524	0.38147	0.0:0.9003:0.0:0.0997	.	21	O95867	LY66C_HUMAN	L	21	ENSP00000364978:R21L	ENSP00000364978:R21L	R	-	2	0	LY6G6C	31795950	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.281000	0.33214	1.164000	0.42652	0.591000	0.81541	CGC		0.592	LY6G6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076530.2		
DNAH8	1769	broad.mit.edu	37	6	38805720	38805720	+	Silent	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:38805720C>A	ENST00000359357.3	+	31	3971	c.3717C>A	c.(3715-3717)gcC>gcA	p.A1239A	DNAH8_ENST00000449981.2_Silent_p.A1456A|DNAH8_ENST00000441566.1_Silent_p.A1239A			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1239					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTACAGGCCAGTTTCGATG	0.328																																						uc021yzh.1																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(4366-4368)gcC>gcA		Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.							137.0	126.0	129.0					6																	38805720		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38805720C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3717C>A	6.37:g.38805720C>A						DNAH8_uc003ooe.2_Silent_p.A1239A	p.A1456A	NM_001206927	NP_001193856					32	4477	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.4368C>A																																																																																					0.328	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
TAAR1	134864	broad.mit.edu	37	6	132966395	132966395	+	Missense_Mutation	SNP	C	C	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:132966395C>G	ENST00000275216.1	-	1	747	c.748G>C	c.(748-750)Gtg>Ctg	p.V250L		NM_138327.1	NP_612200.1	Q96RJ0	TAAR1_HUMAN	trace amine associated receptor 1	250					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|trace-amine receptor activity (GO:0001594)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)|Dextroamphetamine(DB01576)|Methamphetamine(DB01577)|Propylhexedrine(DB06714)	AATGTCTTCACAGCTTTCCTT	0.393																																						uc003qdm.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18						c.(748-750)Gtg>Ctg		Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	Amphetamine(DB00182)						81.0	73.0	76.0					6																	132966395		2203	4299	6502	SO:0001583	missense	134864					plasma membrane		g.chr6:132966395C>G	AY180374	CCDS5158.1	6q23.1	2012-08-08	2005-02-23	2005-02-24	ENSG00000146399	ENSG00000146399		"""GPCR / Class A : Trace amine associated receptors"""	17734	protein-coding gene	gene with protein product		609333	"""trace amine receptor 1"""	TRAR1		11459929, 15718104	Standard	NM_138327		Approved	TAR1, TA1	uc003qdm.1	Q96RJ0	OTTHUMG00000015583	ENST00000275216.1:c.748G>C	6.37:g.132966395C>G	ENSP00000275216:p.Val250Leu						p.V250L	NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	0	748	-	Breast(56;0.135)		250					Q2M1W5|Q3MIH8|Q5VUQ1	Missense_Mutation	SNP	ENST00000275216.1	37	c.748G>C	CCDS5158.1	.	.	.	.	.	.	.	.	.	.	C	11.51	1.659564	0.29515	.	.	ENSG00000146399	ENST00000275216	T	0.71579	-0.58	5.93	4.17	0.49024	GPCR, rhodopsin-like superfamily (1);	0.164261	0.53938	D	0.000048	T	0.25791	0.0628	N	0.02751	-0.505	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.16748	-1.0392	10	0.33940	T	0.23	-0.0617	13.0298	0.58835	0.0:0.8693:0.0:0.1307	.	250	Q96RJ0	TAAR1_HUMAN	L	250	ENSP00000275216:V250L	ENSP00000275216:V250L	V	-	1	0	TAAR1	133008088	0.698000	0.27777	0.020000	0.16555	0.796000	0.44982	1.319000	0.33655	0.852000	0.35287	0.555000	0.69702	GTG		0.393	TAAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042259.1	NM_138327	
C6orf211	79624	broad.mit.edu	37	6	151789913	151789913	+	Missense_Mutation	SNP	A	A	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:151789913A>C	ENST00000367294.3	+	5	1253	c.994A>C	c.(994-996)Aat>Cat	p.N332H	C6orf211_ENST00000545879.1_Missense_Mutation_p.N213H	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	332										breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GGTTTACCACAATCATATATT	0.383																																						uc003qok.1																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15						c.(994-996)Aat>Cat		Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.							85.0	86.0	86.0					6																	151789913		2203	4300	6503	SO:0001583	missense	79624						protein binding	g.chr6:151789913A>C	AJ420548	CCDS5233.1, CCDS69224.1	6q25.1	2013-01-07			ENSG00000146476	ENSG00000146476			17872	protein-coding gene	gene with protein product							Standard	NM_001286562		Approved	FLJ12910	uc003qok.1	Q9H993	OTTHUMG00000015838	ENST00000367294.3:c.994A>C	6.37:g.151789913A>C	ENSP00000356263:p.Asn332His					C6orf211_uc011ees.1_Missense_Mutation_p.N213H	p.N332H	NM_024573	NP_078849	Q9H993	CF211_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)	4	1253	+			332					Q96FC6|Q9UFY5	Missense_Mutation	SNP	ENST00000367294.3	37	c.994A>C	CCDS5233.1	.	.	.	.	.	.	.	.	.	.	A	16.43	3.122333	0.56613	.	.	ENSG00000146476	ENST00000367294;ENST00000545879	T;T	0.06528	3.29;3.29	6.16	5.3	0.74995	Domain of unknown function DUF89 (2);	0.091049	0.64402	D	0.000001	T	0.01156	0.0038	N	0.01576	-0.805	0.32448	N	0.545858	B	0.12013	0.005	B	0.15484	0.013	T	0.45323	-0.9269	10	0.44086	T	0.13	.	15.5639	0.76273	0.0657:0.0:0.9343:0.0	.	332	Q9H993	CF211_HUMAN	H	332;213	ENSP00000356263:N332H;ENSP00000444121:N213H	ENSP00000356263:N332H	N	+	1	0	C6orf211	151831606	1.000000	0.71417	0.142000	0.22268	0.978000	0.69477	6.703000	0.74633	1.633000	0.50488	-0.137000	0.14449	AAT		0.383	C6orf211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042724.1	NM_024573	
MRPL32	64983	broad.mit.edu	37	7	42977023	42977023	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:42977023C>T	ENST00000223324.2	+	3	602	c.415C>T	c.(415-417)Cga>Tga	p.R139*	MRPL32_ENST00000496564.1_Intron	NM_031903.2	NP_114109.1	Q9BYC8	RM32_HUMAN	mitochondrial ribosomal protein L32	139					translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AGAAATCAGACGACAGATAGG	0.493																																						uc003tia.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						c.(415-417)Cga>Tga		Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.							92.0	82.0	86.0					7																	42977023		2203	4300	6503	SO:0001587	stop_gained	64983				translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	g.chr7:42977023C>T	AB051343	CCDS5468.1	7p14	2012-09-13			ENSG00000106591	ENSG00000106591		"""Mitochondrial ribosomal proteins / large subunits"""	14035	protein-coding gene	gene with protein product		611839				11543634	Standard	NM_031903		Approved	HSPC283, L32mt, MRP-L32, bMRP-59b	uc003tia.3	Q9BYC8	OTTHUMG00000155180	ENST00000223324.2:c.415C>T	7.37:g.42977023C>T	ENSP00000223324:p.Arg139*					MRPL32_uc003tib.3_Non-coding_Transcript	p.R139*	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN			2	462	+			139					Q96Q68|Q9P098	Nonsense_Mutation	SNP	ENST00000223324.2	37	c.415C>T	CCDS5468.1	.	.	.	.	.	.	.	.	.	.	c	32	5.170411	0.94768	.	.	ENSG00000106591	ENST00000223324	.	.	.	5.91	1.48	0.22813	.	0.603920	0.19111	N	0.122455	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-1.4918	15.4404	0.75178	0.6273:0.3727:0.0:0.0	.	.	.	.	X	139	.	ENSP00000223324:R139X	R	+	1	2	MRPL32	42943548	0.001000	0.12720	0.269000	0.24586	0.928000	0.56348	0.395000	0.20850	0.033000	0.15463	-0.121000	0.15023	CGA		0.493	MRPL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338669.1	NM_031903	
MYO1G	64005	broad.mit.edu	37	7	45016575	45016575	+	Missense_Mutation	SNP	G	G	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:45016575G>C	ENST00000258787.7	-	2	327	c.191C>G	c.(190-192)gCc>gGc	p.A64G		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	64	Myosin motor.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGGTACCTGGCGATGGCCTC	0.627																																						uc003tmh.2																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						c.(190-192)gCc>gGc		Homo sapiens myosin IG (MYO1G), mRNA.							77.0	70.0	72.0					7																	45016575		2203	4300	6503	SO:0001583	missense	64005					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr7:45016575G>C	AF380932	CCDS34629.1	7p13-p11.2	2011-09-27			ENSG00000136286	ENSG00000136286		"""Myosins / Myosin superfamily : Class I"""	13880	protein-coding gene	gene with protein product	"""minor histocompatibility antigen HA-2"""	600642					Standard	NM_033054		Approved	HA-2	uc003tmh.2	B0I1T2	OTTHUMG00000155821	ENST00000258787.7:c.191C>G	7.37:g.45016575G>C	ENSP00000258787:p.Ala64Gly					MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	p.A64G	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN			1	335	-			64			Myosin head-like.		Q8TEI9|Q8TES2|Q96BE2|Q96RI5|Q96RI6	Missense_Mutation	SNP	ENST00000258787.7	37	c.191C>G	CCDS34629.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.180012	0.57800	.	.	ENSG00000136286	ENST00000258787	D	0.87103	-2.21	3.93	3.93	0.45458	Myosin head, motor domain (2);	0.000000	0.37136	N	0.002237	T	0.79753	0.4500	L	0.33189	0.99	0.37537	D	0.91816	B	0.33345	0.409	B	0.34991	0.193	T	0.81024	-0.1120	10	0.46703	T	0.11	.	9.3236	0.37980	0.0:0.0:0.6714:0.3286	.	64	B0I1T2	MYO1G_HUMAN	G	64	ENSP00000258787:A64G	ENSP00000258787:A64G	A	-	2	0	MYO1G	44983100	1.000000	0.71417	0.991000	0.47740	0.933000	0.57130	6.538000	0.73852	2.199000	0.70637	0.655000	0.94253	GCC		0.627	MYO1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341832.2		
FZD1	8321	broad.mit.edu	37	7	90895152	90895152	+	Silent	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:90895152G>A	ENST00000287934.2	+	1	1370	c.957G>A	c.(955-957)tcG>tcA	p.S319S		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	319					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGCGCTTCTCGCGCACCTGGA	0.617																																						uc003ula.3																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						c.(955-957)tcG>tcA		Homo sapiens frizzled family receptor 1 (FZD1), mRNA.							97.0	86.0	89.0					7																	90895152		2203	4300	6503	SO:0001819	synonymous_variant	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895152G>A	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.957G>A	7.37:g.90895152G>A							p.S319S	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		0	1370	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		319					A4D1E8|O94815|Q549T8	Silent	SNP	ENST00000287934.2	37	c.957G>A	CCDS5620.1																																																																																				0.617	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505	
TAF6	6878	broad.mit.edu	37	7	99705016	99705016	+	Silent	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:99705016A>G	ENST00000344095.4	-	15	2412	c.1887T>C	c.(1885-1887)ccT>ccC	p.P629P	TAF6_ENST00000437822.2_Silent_p.P666P|AP4M1_ENST00000421755.1_Intron|TAF6_ENST00000452041.1_Silent_p.P629P|TAF6_ENST00000453269.2_Silent_p.P629P|TAF6_ENST00000418432.2_Silent_p.P553P|TAF6_ENST00000472509.1_Silent_p.P686P	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	629					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGCCGGGGGAGGAACTGGAG	0.647																																						uc003uth.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26						c.(2056-2058)ccT>ccC		Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.							59.0	65.0	63.0					7																	99705016		2203	4300	6503	SO:0001819	synonymous_variant	6878				negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr7:99705016A>G		CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.1887T>C	7.37:g.99705016A>G						AP4M1_uc003utd.3_Intron|TAF6_uc003utg.3_Silent_p.P551P|TAF6_uc003utm.3_Silent_p.P629P|TAF6_uc003uti.3_Silent_p.P629P|TAF6_uc003utk.3_Silent_p.P629P|TAF6_uc011kji.2_Silent_p.P666P	p.P686P	NM_139315	NP_647476	P49848	TAF6_HUMAN			13	2195	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		629					A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Silent	SNP	ENST00000344095.4	37	c.2058T>C	CCDS5686.1																																																																																				0.647	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337024.2	NM_005641	
ZCWPW1	55063	broad.mit.edu	37	7	100017408	100017408	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:100017408C>A	ENST00000398027.2	-	4	374	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.G43W|ZCWPW1_ENST00000324725.6_5'UTR	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	43							zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAACTGATCCCCGGGGTCTCC	0.493																																						uc003uut.3																			0				breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16						c.(127-129)Ggg>Tgg		Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.							100.0	91.0	94.0					7																	100017408		1823	4075	5898	SO:0001583	missense	55063						zinc ion binding	g.chr7:100017408C>A	AK000919	CCDS43623.1, CCDS59067.1	7q22.1	2012-02-10	2004-11-03		ENSG00000078487	ENSG00000078487			23486	protein-coding gene	gene with protein product			"""zinc finger, CW-type with PWWP domain 1"""			11230166, 14607086, 20826339	Standard	NM_017984		Approved	FLJ10057, DKFZp434N0510, ZCW1	uc003uut.4	Q9H0M4	OTTHUMG00000159537	ENST00000398027.2:c.127G>T	7.37:g.100017408C>A	ENSP00000381109:p.Gly43Trp					ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.G42W|ZCWPW1_uc003uuu.1_Missense_Mutation_p.G42W|ZCWPW1_uc011kjt.1_Missense_Mutation_p.G42W|ZCWPW1_uc011kju.1_Missense_Mutation_p.G42W	p.G43W	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN			3	375	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		43					A8MVF5|B4DUQ2|Q8NA98|Q9BUD0|Q9NWF7	Missense_Mutation	SNP	ENST00000398027.2	37	c.127G>T	CCDS43623.1	.	.	.	.	.	.	.	.	.	.	C	14.74	2.625711	0.46840	.	.	ENSG00000078487	ENST00000398027;ENST00000360951;ENST00000379559	T;T	0.56941	0.46;0.43	4.94	3.95	0.45737	.	0.145140	0.32372	N	0.006186	T	0.62514	0.2434	L	0.50333	1.59	0.23997	N	0.996225	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77004	0.989;0.974;0.974;0.974	T	0.51957	-0.8639	9	.	.	.	-2.2464	9.0165	0.36173	0.0:0.8898:0.0:0.1102	.	43;43;43;43	B4E3W9;B4DUQ2;C9J435;Q9H0M4	.;.;.;ZCPW1_HUMAN	W	43	ENSP00000381109:G43W;ENSP00000354210:G43W	.	G	-	1	0	ZCWPW1	99855344	0.000000	0.05858	0.003000	0.11579	0.652000	0.38707	0.723000	0.25939	1.278000	0.44430	0.655000	0.94253	GGG		0.493	ZCWPW1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356083.1	NM_017984	
KCNU1	157855	broad.mit.edu	37	8	36766969	36766969	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:36766969G>T	ENST00000399881.3	+	21	2284	c.2247G>T	c.(2245-2247)aaG>aaT	p.K749N		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	749					multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGGAGCTGAAGGACATAGTGT	0.458																																						uc010lvw.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(2245-2247)aaG>aaT		Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.							172.0	171.0	171.0					8																	36766969		1884	4102	5986	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36766969G>T	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.2247G>T	8.37:g.36766969G>T	ENSP00000382770:p.Lys749Asn					KCNU1_uc003xjw.2_Non-coding_Transcript	p.K749N	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	20	2334	+			749						Missense_Mutation	SNP	ENST00000399881.3	37	c.2247G>T	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911039	0.72983	.	.	ENSG00000215262	ENST00000399881	T	0.54071	0.59	5.8	3.08	0.35506	.	0.172432	0.35291	U	0.003315	T	0.69468	0.3114	M	0.84326	2.69	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.70662	-0.4810	10	0.62326	D	0.03	-18.7286	8.7917	0.34854	0.2866:0.0:0.7134:0.0	.	749	A8MYU2	KCNU1_HUMAN	N	749	ENSP00000382770:K749N	ENSP00000382770:K749N	K	+	3	2	KCNU1	36886127	0.969000	0.33509	1.000000	0.80357	0.738000	0.42128	0.034000	0.13776	0.821000	0.34540	-0.126000	0.14955	AAG		0.458	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836	
FGFR1	2260	broad.mit.edu	37	8	38282202	38282202	+	Missense_Mutation	SNP	C	C	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:38282202C>A	ENST00000447712.2	-	7	1702	c.761G>T	c.(760-762)cGg>cTg	p.R254L	FGFR1_ENST00000397103.1_Missense_Mutation_p.R163L|FGFR1_ENST00000425967.3_Missense_Mutation_p.R285L|FGFR1_ENST00000532791.1_Missense_Mutation_p.R254L|FGFR1_ENST00000397108.4_Missense_Mutation_p.R252L|FGFR1_ENST00000397091.5_Missense_Mutation_p.R252L|RP11-350N15.4_ENST00000528407.1_RNA|FGFR1_ENST00000356207.5_Missense_Mutation_p.R165L|FGFR1_ENST00000326324.6_Missense_Mutation_p.R163L|FGFR1_ENST00000335922.5_Missense_Mutation_p.R246L|FGFR1_ENST00000397113.2_Missense_Mutation_p.R252L|FGFR1_ENST00000341462.5_Missense_Mutation_p.R255L	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	254			R -> Q (in HH2). {ECO:0000269|PubMed:16764984}.		angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|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 MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CAGGATGGGCCGGTGAGGGGA	0.612		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	uc022aua.1		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	0				breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	GRCh37	CM066810	FGFR1	M		c.(760-762)cGg>cTg		Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	Palifermin(DB00039)						63.0	67.0	66.0					8																	38282202		2061	4208	6269	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38282202C>A	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.761G>T	8.37:g.38282202C>A	ENSP00000400162:p.Arg254Leu					FGFR1_uc011lbu.2_Missense_Mutation_p.R285L|FGFR1_uc011lbv.2_Missense_Mutation_p.R252L|FGFR1_uc011lbw.2_Missense_Mutation_p.R165L|FGFR1_uc003xlp.3_Missense_Mutation_p.R254L|FGFR1_uc022aub.1_Missense_Mutation_p.R252L|FGFR1_uc022auc.1_Missense_Mutation_p.R165L|FGFR1_uc022aud.1_Missense_Mutation_p.R163L|FGFR1_uc010lwk.3_Missense_Mutation_p.R246L|FGFR1_uc011lbr.2_Non-coding_Transcript|FGFR1_uc011lbs.2_Missense_Mutation_p.R94L|FGFR1_uc011lbt.1_Missense_Mutation_p.R163L|FGFR1_uc011lbx.1_Missense_Mutation_p.R165L|FGFR1_uc003xlv.3_Missense_Mutation_p.R165L|FGFR1_uc003xlu.3_Missense_Mutation_p.R163L	p.R254L	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		6	1703	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	254		R -> Q (in KAL2).			A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.761G>T	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	C	36	5.817915	0.96982	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108;ENST00000326296;ENST00000533668;ENST00000525001	T;T;T;T;T;T;T;T;T;T;T;T;T	0.79940	-1.29;-1.29;-1.3;-1.32;-1.3;-1.29;-1.28;-1.31;-1.25;-1.27;-1.29;-1.06;-1.17	5.93	5.93	0.95920	.	0.048932	0.85682	D	0.000000	D	0.91389	0.7283	M	0.88377	2.95	0.80722	D	1	D;P;P;D;D;P;P;P;P;D;D;P	0.71674	0.981;0.936;0.938;0.964;0.997;0.892;0.938;0.897;0.889;0.998;0.998;0.938	B;P;P;P;D;P;P;P;P;D;D;P	0.65684	0.389;0.758;0.716;0.806;0.934;0.545;0.806;0.644;0.758;0.937;0.915;0.806	D	0.92113	0.5697	10	0.87932	D	0	.	19.9513	0.97200	0.0:1.0:0.0:0.0	.	165;165;252;285;163;163;165;254;246;165;163;254	B5A959;P11362-3;P11362-7;P11362-21;B5A958;P11362-14;P11362-4;P11362;P11362-20;P11362-16;P11362-18;P11362-2	.;.;.;.;.;.;.;FGFR1_HUMAN;.;.;.;.	L	252;285;254;255;254;254;252;165;246;163;163;252;255;94;254	ENSP00000380280:R252L;ENSP00000393312:R285L;ENSP00000400162:R254L;ENSP00000340636:R255L;ENSP00000432972:R254L;ENSP00000380302:R252L;ENSP00000348537:R165L;ENSP00000337247:R246L;ENSP00000327229:R163L;ENSP00000380292:R163L;ENSP00000380297:R252L;ENSP00000434869:R94L;ENSP00000434712:R254L	ENSP00000311337:R254L	R	-	2	0	FGFR1	38401359	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	CGG		0.612	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding			
FNTA	2339	broad.mit.edu	37	8	42927324	42927324	+	Splice_Site	SNP	G	G	C			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:42927324G>C	ENST00000302279.3	+	5	701	c.507G>C	c.(505-507)tgG>tgC	p.W169C	FNTA_ENST00000529687.1_Splice_Site_p.W18C|RNU1-124P_ENST00000363861.1_RNA|RP11-598P20.5_ENST00000534420.1_Splice_Site_p.W126C|FNTA_ENST00000342116.4_Splice_Site_p.W102C	NM_002027.2	NP_002018.1	P49354	FNTA_HUMAN	farnesyltransferase, CAAX box, alpha	169					apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|phototransduction, visible light (GO:0007603)|positive regulation of deacetylase activity (GO:0090045)|positive regulation of tubulin deacetylation (GO:0090044)|protein farnesylation (GO:0018343)|protein geranylgeranylation (GO:0018344)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|transforming growth factor beta receptor signaling pathway (GO:0007179)	CAAX-protein geranylgeranyltransferase complex (GO:0005953)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	alpha-tubulin binding (GO:0043014)|CAAX-protein geranylgeranyltransferase activity (GO:0004662)|microtubule binding (GO:0008017)|protein farnesyltransferase activity (GO:0004660)|protein geranylgeranyltransferase activity (GO:0004661)			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGGGCTTTAGGCATCATAGGC	0.368																																						uc003xps.3																			0				cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16						c.e5-1		Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.							142.0	140.0	141.0					8																	42927324		2203	4300	6503	SO:0001630	splice_region_variant	2339				cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity	g.chr8:42927324G>C	L10413	CCDS6140.1	8p11.21	2011-06-27			ENSG00000168522	ENSG00000168522		"""Prenyltransferase alpha subunit repeat containing"""	3782	protein-coding gene	gene with protein product	"""protein prenyltransferase alpha subunit repeat containing 2"""	134635				8276393	Standard	NR_033698		Approved	FPTA, PGGT1A, PTAR2	uc003xps.3	P49354	OTTHUMG00000165279	ENST00000302279.3:c.507-1G>C	8.37:g.42927324G>C						FNTA_uc003xpt.3_Splice_Site_p.W78_splice|FNTA_uc003xpv.3_Splice_Site	p.W169_splice	NM_002027	NP_002018	P49354	FNTA_HUMAN	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)		5	555	+	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	169					A6NJW0|Q53XJ9|Q9UDC1	Missense_Mutation	SNP	ENST00000302279.3	37	c.507_splice	CCDS6140.1	.	.	.	.	.	.	.	.	.	.	G	16.46	3.128737	0.56721	.	.	ENSG00000254673;ENSG00000168522;ENSG00000168522;ENSG00000168522;ENSG00000168522;ENSG00000168522	ENST00000534420;ENST00000302279;ENST00000342116;ENST00000531266;ENST00000525699;ENST00000533336	T	0.62788	0.0	4.41	4.41	0.53225	Protein prenyltransferase (1);	0.110611	0.64402	D	0.000003	D	0.83261	0.5216	M	0.94021	3.485	0.80722	D	1	D;D;D	0.71674	0.998;0.995;0.998	D;D;D	0.72625	0.945;0.948;0.978	D	0.88147	0.2848	9	.	.	.	.	14.5549	0.68094	0.0:0.0:1.0:0.0	.	102;78;169	P49354-2;A8MVX8;P49354	.;.;FNTA_HUMAN	C	126;169;102;151;18;107	ENSP00000436998:W18C	.	W	+	3	0	FNTA;RP11-598P20.5	43046481	1.000000	0.71417	0.997000	0.53966	0.606000	0.37113	9.648000	0.98483	2.014000	0.59158	0.306000	0.20318	TGG		0.368	FNTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383178.1	NM_002027	Missense_Mutation
PXDNL	137902	broad.mit.edu	37	8	52339264	52339264	+	Missense_Mutation	SNP	T	T	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:52339264T>G	ENST00000356297.4	-	13	1680	c.1580A>C	c.(1579-1581)aAt>aCt	p.N527T	PXDNL_ENST00000543296.1_Missense_Mutation_p.N527T	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	527	Ig-like C2-type 4.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATGTTTATATTCTTTCCAAC	0.338																																						uc003xqu.4																			0				NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48						c.(1579-1581)aAt>aCt		Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.							129.0	115.0	120.0					8																	52339264		1863	4110	5973	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52339264T>G		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.1580A>C	8.37:g.52339264T>G	ENSP00000348645:p.Asn527Thr						p.N527T	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			12	1681	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	527			Ig-like C2-type 4.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.1580A>C	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	T	0.003	-2.464971	0.00171	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.64260	-0.09;-0.09	4.18	1.65	0.23941	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32823	0.0842	N	0.11154	0.105	0.20489	N	0.999891	B	0.11235	0.004	B	0.17098	0.017	T	0.29119	-1.0022	9	0.02654	T	1	.	4.2175	0.10542	0.0:0.1134:0.2069:0.6798	.	527	A1KZ92	PXDNL_HUMAN	T	527	ENSP00000348645:N527T;ENSP00000444865:N527T	ENSP00000348645:N527T	N	-	2	0	PXDNL	52501817	0.015000	0.18098	0.006000	0.13384	0.125000	0.20455	2.063000	0.41423	0.114000	0.18032	0.528000	0.53228	AAT		0.338	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
UBXN2B	137886	broad.mit.edu	37	8	59345800	59345800	+	Missense_Mutation	SNP	G	G	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:59345800G>T	ENST00000399598.2	+	4	543	c.421G>T	c.(421-423)Gat>Tat	p.D141Y	UBXN2B_ENST00000522978.1_3'UTR	NM_001077619.1	NP_001071087.1	Q14CS0	UBX2B_HUMAN	UBX domain protein 2B	141	SEP. {ECO:0000255|PROSITE- ProRule:PRU00732}.					endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TCAGCTGCAAGATGTAGGTAC	0.284																																						uc003xtl.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(421-423)Gat>Tat		Homo sapiens UBX domain protein 2B (UBXN2B), mRNA.							159.0	155.0	156.0					8																	59345800		1799	4066	5865	SO:0001583	missense	137886					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus		g.chr8:59345800G>T	AK054658	CCDS43741.1	8q12.1	2008-08-08			ENSG00000215114	ENSG00000215114		"""UBX domain containing"""	27035	protein-coding gene	gene with protein product		610686				8619474, 9110174	Standard	NM_001077619		Approved	p37	uc003xtl.3	Q14CS0	OTTHUMG00000164300	ENST00000399598.2:c.421G>T	8.37:g.59345800G>T	ENSP00000382507:p.Asp141Tyr						p.D141Y	NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN			3	543	+			141			SEP.		B3KWZ3	Missense_Mutation	SNP	ENST00000399598.2	37	c.421G>T	CCDS43741.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.9|23.9	4.475240|4.475240	0.84640|0.84640	.|.	.|.	ENSG00000215114|ENSG00000215114	ENST00000399598|ENST00000521796	T|.	0.48201|.	0.82|.	5.62|5.62	5.62|5.62	0.85841|0.85841	SEP domain (3);|.	0.000000|.	0.44902|.	U|.	0.000411|.	T|T	0.67420|0.67420	0.2891|0.2891	L|L	0.44542|0.44542	1.39|1.39	0.46678|0.46678	D|D	0.999155|0.999155	D|.	0.61080|.	0.989|.	P|.	0.57283|.	0.817|.	T|T	0.62690|0.62690	-0.6801|-0.6801	10|5	0.66056|.	D|.	0.02|.	-17.5233|-17.5233	17.8569|17.8569	0.88767|0.88767	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	141|.	Q14CS0|.	UBX2B_HUMAN|.	Y|I	141|86	ENSP00000382507:D141Y|.	ENSP00000382507:D141Y|.	D|R	+|+	1|2	0|0	UBXN2B|UBXN2B	59508354|59508354	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	7.256000|7.256000	0.78350|0.78350	2.660000|2.660000	0.90430|0.90430	0.655000|0.655000	0.94253|0.94253	GAT|AGA		0.284	UBXN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378184.1	NM_001077619	
LRRCC1	85444	broad.mit.edu	37	8	86047170	86047170	+	Missense_Mutation	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:86047170C>T	ENST00000360375.3	+	13	2206	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	LRRCC1_ENST00000414626.2_Missense_Mutation_p.S666F	NM_033402.4	NP_208325.3	Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	686					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AATGAGTCTTCCTCTTTAATT	0.333																																						uc003ycw.3																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						c.(2056-2058)tCc>tTc		Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.							77.0	75.0	75.0					8																	86047170		1815	4064	5879	SO:0001583	missense	85444				cell division|mitosis	centriole|nucleus		g.chr8:86047170C>T	BC030701	CCDS43750.1	8q21.2	2012-04-10	2012-04-10		ENSG00000133739	ENSG00000133739			29373	protein-coding gene	gene with protein product	"""centrosomal leucine-rich repeat and coiled-coil containing protein"", ""variable number of flagella 1 homolog (Chlamydomonas)"""		"""leucine rich repeat and coiled-coil domain containing 1"""			11214970, 18728398	Standard	NM_033402		Approved	KIAA1764, CLERC, VFL1	uc003ycw.3	Q9C099	OTTHUMG00000164784	ENST00000360375.3:c.2057C>T	8.37:g.86047170C>T	ENSP00000353538:p.Ser686Phe					LRRCC1_uc022awx.1_Missense_Mutation_p.S593F|LRRCC1_uc010maa.2_Missense_Mutation_p.S387F|LRRCC1_uc003ycy.3_Missense_Mutation_p.S666F	p.S686F	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN			12	2265	+			686					B4DYX6|B5RI11|Q8N768|Q96DK7|Q96N01	Missense_Mutation	SNP	ENST00000360375.3	37	c.2057C>T	CCDS43750.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376832	0.82682	.	.	ENSG00000133739	ENST00000360375;ENST00000414626	T;T	0.34072	1.38;1.38	5.85	4.97	0.65823	.	0.000000	0.40469	N	0.001098	T	0.52757	0.1754	L	0.47716	1.5	0.35614	D	0.808926	D;D;D;D	0.71674	0.995;0.998;0.995;0.994	P;D;P;P	0.65443	0.885;0.935;0.814;0.854	T	0.64097	-0.6487	10	0.52906	T	0.07	-1.6408	17.0482	0.86510	0.0:0.8728:0.1272:0.0	.	593;666;593;686	B4DV06;Q9C099-2;E9PE41;Q9C099	.;.;.;LRCC1_HUMAN	F	686;666	ENSP00000353538:S686F;ENSP00000394695:S666F	ENSP00000353538:S686F	S	+	2	0	LRRCC1	86234422	0.994000	0.37717	1.000000	0.80357	0.999000	0.98932	3.376000	0.52417	1.466000	0.48025	0.655000	0.94253	TCC		0.333	LRRCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380267.1	NM_033402	
GRHL2	79977	broad.mit.edu	37	8	102649132	102649132	+	Missense_Mutation	SNP	A	A	G			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:102649132A>G	ENST00000251808.3	+	12	1831	c.1493A>G	c.(1492-1494)tAc>tGc	p.Y498C	GRHL2_ENST00000395927.1_Missense_Mutation_p.Y482C|GRHL2_ENST00000517674.1_3'UTR	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	498					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CAGGTGTATTACAACACGGAT	0.408																																						uc010mbu.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1492-1494)tAc>tGc		Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.							247.0	216.0	227.0					8																	102649132		2203	4300	6503	SO:0001583	missense	79977					cytoplasm|nucleus	DNA binding	g.chr8:102649132A>G	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.1493A>G	8.37:g.102649132A>G	ENSP00000251808:p.Tyr498Cys						p.Y498C	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)		11	1823	+	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		498					A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	ENST00000251808.3	37	c.1493A>G	CCDS34931.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506891	0.44558	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.12147	2.71;2.72	5.4	5.4	0.78164	.	0.299218	0.37623	N	0.002017	T	0.16428	0.0395	L	0.54323	1.7	0.50467	D	0.999871	B	0.02656	0.0	B	0.06405	0.002	T	0.01819	-1.1267	10	0.39692	T	0.17	-23.7587	15.1097	0.72346	1.0:0.0:0.0:0.0	.	498	Q6ISB3	GRHL2_HUMAN	C	498;482;498	ENSP00000251808:Y498C;ENSP00000379260:Y482C	ENSP00000251808:Y498C	Y	+	2	0	GRHL2	102718308	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	6.094000	0.71431	2.055000	0.61198	0.459000	0.35465	TAC		0.408	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313882.1	NM_024915	
PLEC	5339	broad.mit.edu	37	8	144996426	144996426	+	Silent	SNP	C	C	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:144996426C>T	ENST00000322810.4	-	32	8143	c.7974G>A	c.(7972-7974)caG>caA	p.Q2658Q	PLEC_ENST00000345136.3_Silent_p.Q2521Q|PLEC_ENST00000357649.2_Silent_p.Q2525Q|PLEC_ENST00000354958.2_Silent_p.Q2499Q|PLEC_ENST00000398774.2_Silent_p.Q2489Q|PLEC_ENST00000354589.3_Silent_p.Q2521Q|PLEC_ENST00000527096.1_Silent_p.Q2544Q|PLEC_ENST00000436759.2_Silent_p.Q2548Q|PLEC_ENST00000356346.3_Silent_p.Q2507Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2658	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACCTCGTCCTGGAAGAGCT	0.642																																						uc003zaf.1																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(7972-7974)caG>caA		Homo sapiens plectin (PLEC), transcript variant 6, mRNA.							16.0	17.0	16.0					8																	144996426		2188	4292	6480	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144996426C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7974G>A	8.37:g.144996426C>T						PLEC_uc003zab.1_Silent_p.Q2521Q|PLEC_uc003zac.1_Silent_p.Q2525Q|PLEC_uc003zad.2_Silent_p.Q2521Q|PLEC_uc003zae.1_Silent_p.Q2489Q|PLEC_uc003zag.1_Silent_p.Q2499Q|PLEC_uc003zah.2_Silent_p.Q2507Q|PLEC_uc003zaj.2_Silent_p.Q2548Q	p.Q2658Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	8144	-			2658			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.7974G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	c	5.560	0.288196	0.10513	.	.	ENSG00000178209	ENST00000527303	.	.	.	4.38	1.43	0.22495	.	.	.	.	.	T	0.46541	0.1398	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28522	-1.0041	4	.	.	.	.	4.4215	0.11482	0.1514:0.5264:0.0:0.3222	.	.	.	.	K	91	.	.	R	-	2	0	PLEC	145068414	0.913000	0.31002	1.000000	0.80357	0.926000	0.56050	0.008000	0.13197	0.458000	0.26988	-0.494000	0.04653	AGG		0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
FOXD4L5	653427	broad.mit.edu	37	9	70177706	70177706	+	Missense_Mutation	SNP	G	G	A			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr9:70177706G>A	ENST00000377420.1	-	1	1109	c.278C>T	c.(277-279)cCg>cTg	p.P93L		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	93					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						AGACCTTGGCGGTGCCCTGAA	0.682																																						uc010moc.3																			0		p.P93P(1)		endometrium(5)|lung(2)	7						c.(277-279)cCg>cTg		Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.							50.0	73.0	66.0					9																	70177706		692	1581	2273	SO:0001583	missense	653427				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr9:70177706G>A		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.278C>T	9.37:g.70177706G>A	ENSP00000366637:p.Pro93Leu						p.P93L	NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN			0	1110	-			93						Missense_Mutation	SNP	ENST00000377420.1	37	c.278C>T	CCDS47977.1	.	.	.	.	.	.	.	.	.	.	g	8.201	0.798135	0.16397	.	.	ENSG00000204779	ENST00000377420	D	0.94232	-3.38	.	.	.	.	1.124890	0.07257	U	0.866810	T	0.82254	0.4997	N	0.19112	0.55	0.40444	D	0.98007	P	0.49961	0.93	B	0.28638	0.092	T	0.76495	-0.2938	9	0.56958	D	0.05	.	3.5331	0.07784	1.0E-4:1.0E-4:0.5588:0.4411	.	93	Q5VV16	FX4L5_HUMAN	L	93	ENSP00000366637:P93L	ENSP00000366637:P93L	P	-	2	0	FOXD4L5	69467526	0.219000	0.23619	0.052000	0.19188	0.000000	0.00434	0.350000	0.20079	0.527000	0.28560	0.000000	0.15137	CCG		0.682	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037122.1	NM_001126334	
EIF2S3	1968	broad.mit.edu	37	X	24075581	24075581	+	Missense_Mutation	SNP	A	A	T			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chrX:24075581A>T	ENST00000253039.4	+	3	430	c.177A>T	c.(175-177)aaA>aaT	p.K59N		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	59	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						CAGTCGTCAAAGCTATTTCTG	0.328																																						uc004dbc.3																			0				breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						c.(175-177)aaA>aaT		Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.							68.0	64.0	65.0					X																	24075581		2203	4300	6503	SO:0001583	missense	1968					cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	g.chrX:24075581A>T	L19161	CCDS14210.1	Xp22.2-p22.1	2008-07-31	2002-08-29		ENSG00000130741	ENSG00000130741			3267	protein-coding gene	gene with protein product	"""eukaryotic translation initiation factor 2G"""	300161	"""eukaryotic translation initiation factor 2, subunit 3 (gamma, 52kD)"""	EIF2G		8106381, 9736774	Standard	NM_001415		Approved	EIF2gamma, EIF2	uc004dbc.3	P41091	OTTHUMG00000021262	ENST00000253039.4:c.177A>T	X.37:g.24075581A>T	ENSP00000253039:p.Lys59Asn						p.K59N	NM_001415	NP_001406	P41091	IF2G_HUMAN			2	198	+			59					B5BTZ4	Missense_Mutation	SNP	ENST00000253039.4	37	c.177A>T	CCDS14210.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.7|20.7	4.032529|4.032529	0.75504|0.75504	.|.	.|.	ENSG00000130741|ENSG00000130741	ENST00000253039|ENST00000423068	T|.	0.59772|.	0.24|.	5.22|5.22	2.67|2.67	0.31697|0.31697	Protein synthesis factor, GTP-binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73377|0.73377	0.3579|0.3579	M|M	0.87900|0.87900	2.915|2.915	0.58432|0.58432	D|D	0.999993|0.999993	D|.	0.67145|.	0.996|.	D|.	0.70716|.	0.97|.	T|T	0.72551|0.72551	-0.4259|-0.4259	10|5	0.62326|.	D|.	0.03|.	.|.	6.6451|6.6451	0.22931|0.22931	0.7649:0.1517:0.0834:0.0|0.7649:0.1517:0.0834:0.0	.|.	59|.	P41091|.	IF2G_HUMAN|.	N|C	59|59	ENSP00000253039:K59N|.	ENSP00000253039:K59N|.	K|S	+|+	3|1	2|0	EIF2S3|EIF2S3	23985502|23985502	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	2.218000|2.218000	0.42889|0.42889	0.741000|0.741000	0.32674|0.32674	0.417000|0.417000	0.27973|0.27973	AAA|AGC		0.328	EIF2S3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056079.1	NM_001415	
