#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
EFCAB7	84455	broad.mit.edu	37	1	63999825	63999825	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:63999825A>C	ENST00000371088.4	+	6	988	c.742A>C	c.(742-744)Aca>Cca	p.T248P	RNU7-123P_ENST00000515911.1_RNA	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	248			T -> I (in dbSNP:rs6693255). {ECO:0000269|PubMed:15489334}.				calcium ion binding (GO:0005509)	p.T248P(1)		breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						TGTTTCCTTCACAGTTACCAT	0.358																																						ENST00000371088.4																			1	Substitution - Missense(1)	p.T248P(1)	prostate(1)	breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						c.(742-744)Aca>Cca		EF-hand calcium binding domain 7							101.0	99.0	99.0					1																	63999825		2203	4300	6503	SO:0001583	missense	84455						calcium ion binding	g.chr1:63999825A>C	BC015814	CCDS30737.1	1p31.3	2013-01-10			ENSG00000203965	ENSG00000203965		"""EF-hand domain containing"""	29379	protein-coding gene	gene with protein product						11347906	Standard	NM_032437		Approved	KIAA1799, RP4-534K7.1	uc001dbf.3	A8K855	OTTHUMG00000008983	ENST00000371088.4:c.742A>C	1.37:g.63999825A>C	ENSP00000360129:p.Thr248Pro						p.T248P	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN			6	988	+			248		T -> I (in dbSNP:rs6693255).			Q658P0|Q96B95|Q96JM6	Missense_Mutation	SNP	ENST00000371088.4	37	c.742A>C	CCDS30737.1	.	.	.	.	.	.	.	.	.	.	A	9.920	1.211841	0.22289	.	.	ENSG00000203965	ENST00000371088	T	0.59083	0.29	5.65	4.46	0.54185	.	0.529823	0.23072	N	0.052243	T	0.38081	0.1027	L	0.47716	1.5	0.80722	D	1	P	0.45283	0.855	B	0.41571	0.36	T	0.48479	-0.9032	10	0.72032	D	0.01	-5.8298	9.6824	0.40078	0.8454:0.0:0.0:0.1546	.	248	A8K855	EFCB7_HUMAN	P	248	ENSP00000360129:T248P	ENSP00000360129:T248P	T	+	1	0	EFCAB7	63772413	0.553000	0.26513	0.997000	0.53966	0.472000	0.32918	4.268000	0.58883	2.146000	0.66826	0.533000	0.62120	ACA		0.358	EFCAB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024910.1	NM_032437		64	121	64	121	---	---	---	---
DPYD	1806	broad.mit.edu	37	1	97564128	97564128	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:97564128T>C	ENST00000370192.3	-	21	2783	c.2683A>G	c.(2683-2685)Att>Gtt	p.I895V	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	895					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)	p.I895V(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TTCAGTCTAATCTTGTTTTCT	0.363																																						ENST00000370192.3																			2	Substitution - Missense(2)	p.I895V(2)	prostate(2)	NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83						c.(2683-2685)Att>Gtt		dihydropyrimidine dehydrogenase	Capecitabine(DB01101)|Enfuvirtide(DB00109)						145.0	145.0	145.0					1																	97564128		2203	4300	6503	SO:0001583	missense	1806				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity	g.chr1:97564128T>C	U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2683A>G	1.37:g.97564128T>C	ENSP00000359211:p.Ile895Val					DPYD-AS1_ENST00000422980.1_RNA	p.I895V	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	21	2783	-		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)	895					A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	c.2683A>G	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	T	9.568	1.120335	0.20877	.	.	ENSG00000188641	ENST00000370192	D	0.90133	-2.62	5.66	3.15	0.36227	.	0.191957	0.46442	D	0.000290	T	0.73218	0.3559	L	0.34521	1.04	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.68773	-0.5320	10	0.30078	T	0.28	-5.2298	7.4037	0.26979	0.1334:0.0:0.2774:0.5892	.	895	Q12882	DPYD_HUMAN	V	895	ENSP00000359211:I895V	ENSP00000359211:I895V	I	-	1	0	DPYD	97336716	0.996000	0.38824	0.988000	0.46212	0.814000	0.46013	0.398000	0.20899	1.053000	0.40415	0.482000	0.46254	ATT		0.363	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110		68	131	68	131	---	---	---	---
TSPAN2	10100	broad.mit.edu	37	1	115601593	115601593	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:115601593G>T	ENST00000369516.2	-	5	386	c.355C>A	c.(355-357)Cat>Aat	p.H119N	TSPAN2_ENST00000491992.1_5'Flank|TSPAN2_ENST00000369514.2_Missense_Mutation_p.H119N|TSPAN2_ENST00000369515.2_Missense_Mutation_p.H94N	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	119					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)		p.H119N(1)		central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		GTCTGAACATGTCGGATAGCC	0.418																																						ENST00000369516.2																			1	Substitution - Missense(1)	p.H119N(1)	prostate(1)	central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10						c.(355-357)Cat>Aat		tetraspanin 2							211.0	196.0	201.0					1																	115601593		2203	4300	6503	SO:0001583	missense	10100					integral to membrane		g.chr1:115601593G>T	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.355C>A	1.37:g.115601593G>T	ENSP00000358529:p.His119Asn					TSPAN2_ENST00000369514.2_Missense_Mutation_p.H119N|TSPAN2_ENST00000369515.2_Missense_Mutation_p.H94N	p.H119N	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	5	386	-	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)	119					D6PTH4|Q5TET2|Q8WU05	Missense_Mutation	SNP	ENST00000369516.2	37	c.355C>A	CCDS881.1	.	.	.	.	.	.	.	.	.	.	G	9.247	1.039864	0.19669	.	.	ENSG00000134198	ENST00000369516;ENST00000369515;ENST00000433172;ENST00000369514	T;D;T;T	0.86432	-1.19;-2.12;-1.19;-1.19	5.8	4.87	0.63330	Tetraspanin, EC2 domain (1);CD81 extracellular domain (1);	0.382688	0.34245	N	0.004136	T	0.51398	0.1672	N	0.02539	-0.55	0.29799	N	0.832637	B	0.12013	0.005	B	0.10450	0.005	T	0.34329	-0.9833	10	0.27082	T	0.32	.	8.4593	0.32919	0.0:0.2526:0.6132:0.1342	.	119	O60636	TSN2_HUMAN	N	119;94;113;119	ENSP00000358529:H119N;ENSP00000358528:H94N;ENSP00000415256:H113N;ENSP00000358527:H119N	ENSP00000358527:H119N	H	-	1	0	TSPAN2	115403116	0.989000	0.36119	0.610000	0.28997	0.387000	0.30353	2.908000	0.48750	2.755000	0.94549	0.655000	0.94253	CAT		0.418	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725		6	325	6	325	---	---	---	---
CHD1L	9557	broad.mit.edu	37	1	146731533	146731533	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:146731533G>T	ENST00000369258.4	+	6	557	c.537G>T	c.(535-537)ttG>ttT	p.L179F	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.L179F|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000361293.5_5'UTR	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	179	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|nucleotide binding (GO:0000166)	p.L179F(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CTCACAGGTTGAAAAACCAAA	0.358																																						ENST00000369258.4																			2	Substitution - Missense(2)	p.L179F(2)	prostate(2)	breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						c.(535-537)ttG>ttT		chromodomain helicase DNA binding protein 1-like							180.0	190.0	187.0					1																	146731533		2203	4300	6503	SO:0001583	missense	9557				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr1:146731533G>T	AF054177	CCDS927.1, CCDS58021.1, CCDS58022.1, CCDS72882.1	1q21.1	2008-02-05			ENSG00000131778	ENSG00000131778			1916	protein-coding gene	gene with protein product		613039				9653160	Standard	NM_004284		Approved	ALC1	uc001epm.5	Q86WJ1	OTTHUMG00000150271	ENST00000369258.4:c.537G>T	1.37:g.146731533G>T	ENSP00000358262:p.Leu179Phe					CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000369259.3_Intron|CHD1L_ENST00000361293.5_5'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.L179F	p.L179F	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN			6	557	+	all_hematologic(923;0.0487)		179			Helicase ATP-binding.		A5YM64|B4DDE1|B5MDZ7|Q53EZ3|Q5VXX7|Q6DD94|Q6PK83|Q86XH3|Q96HF7|Q96SP3|Q9BVJ1|Q9NVV8	Missense_Mutation	SNP	ENST00000369258.4	37	c.537G>T	CCDS927.1	.	.	.	.	.	.	.	.	.	.	G	19.44	3.828927	0.71258	.	.	ENSG00000131778	ENST00000431239;ENST00000369258;ENST00000436230;ENST00000254086	D;D	0.95103	-3.61;-3.61	4.96	4.96	0.65561	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.64402	D	0.000001	D	0.96981	0.9014	M	0.85041	2.73	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.97512	1.0067	10	0.87932	D	0	.	14.0881	0.64971	0.0:0.0:1.0:0.0	.	179;179	Q86WJ1-2;Q86WJ1	.;CHD1L_HUMAN	F	179;179;79;140	ENSP00000389031:L179F;ENSP00000358262:L179F	ENSP00000254086:L140F	L	+	3	2	CHD1L	145198157	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.572000	0.45999	2.460000	0.83146	0.650000	0.86243	TTG		0.358	CHD1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040377.1	NM_004284		152	308	152	308	---	---	---	---
HMCN1	83872	broad.mit.edu	37	1	186077666	186077666	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:186077666A>C	ENST00000271588.4	+	71	11155	c.10926A>C	c.(10924-10926)gaA>gaC	p.E3642D	HMCN1_ENST00000367492.2_Missense_Mutation_p.E3642D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3642	Ig-like C2-type 35.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGACATTGGAATGCAAGTCAG	0.423																																						ENST00000271588.4																			0				NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						c.(10924-10926)gaA>gaC		hemicentin 1							117.0	104.0	108.0					1																	186077666		2203	4300	6503	SO:0001583	missense	83872				response to stimulus|visual perception	basement membrane	calcium ion binding	g.chr1:186077666A>C	AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.10926A>C	1.37:g.186077666A>C	ENSP00000271588:p.Glu3642Asp					HMCN1_ENST00000367492.2_Missense_Mutation_p.E3642D	p.E3642D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN			71	11155	+			3642			Ig-like C2-type 35.		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	c.10926A>C	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415634	0.83449	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68479	-0.33;-0.33	5.87	3.55	0.40652	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.71617	0.3361	L	0.45051	1.395	0.53005	D	0.999963	D	0.69078	0.997	D	0.80764	0.994	T	0.68387	-0.5422	10	0.34782	T	0.22	.	9.2257	0.37405	0.7818:0.0:0.2182:0.0	.	3642	Q96RW7	HMCN1_HUMAN	D	3642	ENSP00000271588:E3642D;ENSP00000356462:E3642D	ENSP00000271588:E3642D	E	+	3	2	HMCN1	184344289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.417000	0.34770	1.143000	0.42306	0.533000	0.62120	GAA		0.423	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935		3	139	3	139	---	---	---	---
CFH	3075	broad.mit.edu	37	1	196658588	196658588	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:196658588C>G	ENST00000359637.2	+	7	873	c.811C>G	c.(811-813)Cta>Gta	p.L271V	CFH_ENST00000367429.4_Missense_Mutation_p.L335V|CFH_ENST00000439155.2_Missense_Mutation_p.L335V			P08603	CFAH_HUMAN	complement factor H	335	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.L335V(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACATGGAGGTCTATATCATGA	0.308																																						ENST00000367429.4																			1	Substitution - Missense(1)	p.L335V(1)	prostate(1)	NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						c.(1003-1005)Cta>Gta		complement factor H							85.0	80.0	82.0					1																	196658588		2203	4300	6503	SO:0001583	missense	3075				complement activation, alternative pathway	extracellular space		g.chr1:196658588C>G	Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000359637.2:c.811C>G	1.37:g.196658588C>G	ENSP00000352658:p.Leu271Val					CFH_ENST00000359637.2_Missense_Mutation_p.L271V|CFH_ENST00000439155.2_Missense_Mutation_p.L335V	p.L335V	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN			8	1243	+			335			Sushi 6.		A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	ENST00000359637.2	37	c.1003C>G		.	.	.	.	.	.	.	.	.	.	C	14.05	2.420965	0.42918	.	.	ENSG00000000971	ENST00000367429;ENST00000439155;ENST00000391986;ENST00000359637	T;T;T	0.63580	-0.05;-0.05;-0.05	5.61	2.54	0.30619	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.73361	0.3577	M	0.82923	2.615	0.09310	N	1	P;D;P	0.76494	0.919;0.999;0.946	P;D;P	0.70716	0.703;0.97;0.823	T	0.61705	-0.7008	9	0.12103	T	0.63	.	6.2788	0.20995	0.3272:0.5875:0.0:0.0853	.	271;335;335	Q5TFM2;P08603;F8WDX4	.;CFAH_HUMAN;.	V	335;335;335;271	ENSP00000356399:L335V;ENSP00000402656:L335V;ENSP00000352658:L271V	ENSP00000352658:L271V	L	+	1	2	CFH	194925211	0.000000	0.05858	0.009000	0.14445	0.003000	0.03518	-0.401000	0.07232	0.851000	0.35264	0.655000	0.94253	CTA		0.308	CFH-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000087502.1	NM_000186		9	150	9	150	---	---	---	---
C1orf116	79098	broad.mit.edu	37	1	207195634	207195634	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:207195634C>A	ENST00000359470.5	-	4	1724	c.1475G>T	c.(1474-1476)aGc>aTc	p.S492I	C1orf116_ENST00000461135.2_Missense_Mutation_p.S246I	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	492						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.S492T(1)|p.S492I(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AAGGTAGCTGCTCAGTCCCAC	0.542																																						ENST00000359470.5																			2	Substitution - Missense(2)	p.S492T(1)|p.S492I(1)	prostate(1)|lung(1)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29						c.(1474-1476)aGc>aTc		chromosome 1 open reading frame 116							41.0	42.0	41.0					1																	207195634		2203	4300	6503	SO:0001583	missense	79098					cytoplasm|plasma membrane	receptor activity	g.chr1:207195634C>A		CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1475G>T	1.37:g.207195634C>A	ENSP00000352447:p.Ser492Ile					C1orf116_ENST00000461135.2_Missense_Mutation_p.S246I	p.S492I	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN			4	1724	-	Prostate(682;0.19)		492					C9JV41|Q658X3	Missense_Mutation	SNP	ENST00000359470.5	37	c.1475G>T	CCDS1475.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.379999	0.82682	.	.	ENSG00000182795	ENST00000359470;ENST00000461135	T;T	0.15603	2.41;2.41	5.7	5.7	0.88788	.	0.229481	0.50627	D	0.000110	T	0.40956	0.1138	M	0.61703	1.905	0.49582	D	0.999806	D	0.76494	0.999	D	0.66979	0.948	T	0.10497	-1.0627	10	0.72032	D	0.01	-11.1594	18.8353	0.92159	0.0:1.0:0.0:0.0	.	492	Q9BW04	SARG_HUMAN	I	492;246	ENSP00000352447:S492I;ENSP00000436862:S246I	ENSP00000352447:S492I	S	-	2	0	C1orf116	205262257	1.000000	0.71417	1.000000	0.80357	0.720000	0.41350	4.673000	0.61604	2.688000	0.91661	0.655000	0.94253	AGC		0.542	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088973.1	NM_024115		3	41	3	41	---	---	---	---
TARBP1	6894	broad.mit.edu	37	1	234556448	234556448	+	Splice_Site	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr1:234556448C>T	ENST00000040877.1	-	21	3554	c.3555G>A	c.(3553-3555)caG>caA	p.Q1185Q		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1185					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			AATATGATACCTGGTCAAGTC	0.338																																						ENST00000040877.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55						c.(3553-3555)caG>caA		TAR (HIV-1) RNA binding protein 1							83.0	90.0	87.0					1																	234556448		2203	4300	6503	SO:0001630	splice_region_variant	6894				regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity	g.chr1:234556448C>T		CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.3555+1G>A	1.37:g.234556448C>T							p.Q1185Q	NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.000263)		21	3554	-	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	1185					Q9H581	Splice_Site	SNP	ENST00000040877.1	37	c.3555G>A	CCDS1601.1																																																																																				0.338	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092616.1	NM_005646	Silent	49	96	49	96	---	---	---	---
PDIA6	10130	broad.mit.edu	37	2	10933278	10933278	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:10933278G>C	ENST00000272227.3	-	5	544	c.397C>G	c.(397-399)Cag>Gag	p.Q133E	PDIA6_ENST00000404371.2_Missense_Mutation_p.Q185E|PDIA6_ENST00000404824.2_Missense_Mutation_p.Q181E|PDIA6_ENST00000540494.1_Missense_Mutation_p.Q130E|PDIA6_ENST00000381611.4_Missense_Mutation_p.Q138E	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	133	Thioredoxin 1. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)	p.Q133E(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		TTCACGAGCTGGCGCAGAGCA	0.522																																					GBM(73;509 1219 34219 41343 41551)	ENST00000404371.2																			1	Substitution - Missense(1)	p.Q133E(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18						c.(553-555)Cag>Gag		protein disulfide isomerase family A, member 6							92.0	82.0	86.0					2																	10933278		2203	4300	6503	SO:0001583	missense	10130				cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity	g.chr2:10933278G>C	BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.397C>G	2.37:g.10933278G>C	ENSP00000272227:p.Gln133Glu					PDIA6_ENST00000381611.4_Missense_Mutation_p.Q138E|PDIA6_ENST00000540494.1_Missense_Mutation_p.Q130E|PDIA6_ENST00000404824.2_Missense_Mutation_p.Q181E|PDIA6_ENST00000272227.3_Missense_Mutation_p.Q133E	p.Q185E	NM_001282704.1	NP_001269633.1	Q15084	PDIA6_HUMAN		Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)	7	890	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)		133			Thioredoxin 2.		B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Missense_Mutation	SNP	ENST00000272227.3	37	c.553C>G	CCDS1675.1	.	.	.	.	.	.	.	.	.	.	G	7.479	0.648347	0.14516	.	.	ENSG00000143870	ENST00000272227;ENST00000404371;ENST00000404824;ENST00000540494;ENST00000381611	T;T;T;T;T	0.04234	3.69;3.67;3.68;3.69;3.69	5.91	5.91	0.95273	Thioredoxin-like fold (2);	0.290535	0.37219	N	0.002192	T	0.01558	0.0050	N	0.01048	-1.04	0.33388	D	0.575761	B;B;B;B	0.19073	0.0;0.001;0.001;0.033	B;B;B;B	0.14023	0.001;0.01;0.004;0.009	T	0.42548	-0.9445	10	0.18710	T	0.47	.	5.1268	0.14888	0.1721:0.0:0.6552:0.1727	.	130;181;185;133	B7Z254;B5MCQ5;Q15084-2;Q15084	.;.;.;PDIA6_HUMAN	E	133;185;181;130;138	ENSP00000272227:Q133E;ENSP00000385385:Q185E;ENSP00000384459:Q181E;ENSP00000438778:Q130E;ENSP00000371024:Q138E	ENSP00000272227:Q133E	Q	-	1	0	PDIA6	10850729	1.000000	0.71417	0.999000	0.59377	0.017000	0.09413	4.409000	0.59768	2.793000	0.96121	0.655000	0.94253	CAG		0.522	PDIA6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206933.1	NM_005742		18	68	18	68	---	---	---	---
RAB3GAP1	22930	broad.mit.edu	37	2	135922225	135922225	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:135922225G>A	ENST00000264158.8	+	23	2711	c.2668G>A	c.(2668-2670)Gct>Act	p.A890T	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A846T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A890T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	890					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)	p.A890T(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGAGGACATGCTGGCAGGAT	0.488																																						ENST00000264158.8																			1	Substitution - Missense(1)	p.A890T(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(2668-2670)Gct>Act		RAB3 GTPase activating protein subunit 1 (catalytic)							122.0	102.0	109.0					2																	135922225		2203	4300	6503	SO:0001583	missense	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135922225G>A	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.2668G>A	2.37:g.135922225G>A	ENSP00000264158:p.Ala890Thr					RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A890T|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A846T|RAB3GAP1_ENST00000487003.1_3'UTR	p.A890T	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	23	2711	+			890					A6H8Z3|C9J837|Q659F5|Q8TBB4	Missense_Mutation	SNP	ENST00000264158.8	37	c.2668G>A	CCDS33294.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.981613	0.93044	.	.	ENSG00000115839	ENST00000264158;ENST00000539493;ENST00000442034	T;T;T	0.48522	0.82;0.81;0.82	4.97	4.97	0.65823	.	0.105878	0.64402	D	0.000005	T	0.53658	0.1810	L	0.56769	1.78	0.80722	D	1	P;P	0.47762	0.9;0.877	P;P	0.48400	0.576;0.494	T	0.48305	-0.9047	10	0.25106	T	0.35	-17.4122	18.4144	0.90563	0.0:0.0:1.0:0.0	.	890;890	C9J837;Q15042	.;RB3GP_HUMAN	T	890;846;890	ENSP00000264158:A890T;ENSP00000444306:A846T;ENSP00000411418:A890T	ENSP00000264158:A890T	A	+	1	0	RAB3GAP1	135638695	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.948000	0.75965	2.586000	0.87340	0.591000	0.81541	GCT		0.488	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		20	44	20	44	---	---	---	---
ERBB4	2066	broad.mit.edu	37	2	212251657	212251657	+	Silent	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:212251657C>A	ENST00000342788.4	-	27	3712	c.3402G>T	c.(3400-3402)gtG>gtT	p.V1134V	ERBB4_ENST00000402597.1_Silent_p.V1124V|ERBB4_ENST00000436443.1_Silent_p.V1118V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1134					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V1134V(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTGGGGCAAACACGGTGGGGT	0.522										TSP Lung(8;0.080)																												ENST00000342788.4																			1	Substitution - coding silent(1)	p.V1134V(1)	prostate(1)	NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179						c.(3400-3402)gtG>gtT		v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4							156.0	140.0	145.0					2																	212251657		2203	4300	6503	SO:0001819	synonymous_variant	2066				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr2:212251657C>A	L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.3402G>T	2.37:g.212251657C>A		TSP Lung(8;0.080)				ERBB4_ENST00000436443.1_Silent_p.V1118V|ERBB4_ENST00000402597.1_Silent_p.V1124V	p.V1134V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	27	3712	-		Renal(323;0.06)|Lung NSC(271;0.197)	1134					B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Silent	SNP	ENST00000342788.4	37	c.3402G>T	CCDS2394.1																																																																																				0.522	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599		54	124	54	124	---	---	---	---
RHBDD1	84236	broad.mit.edu	37	2	227729679	227729679	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:227729679G>A	ENST00000341329.3	+	2	512	c.270G>A	c.(268-270)tgG>tgA	p.W90*	RHBDD1_ENST00000392062.2_Nonsense_Mutation_p.W90*	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	90					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.W90*(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CCATGCTCTGGAAAGGAATAA	0.423																																						ENST00000392062.2																			1	Substitution - Nonsense(1)	p.W90*(1)	prostate(1)	breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(268-270)tgG>tgA		rhomboid domain containing 1							171.0	164.0	166.0					2																	227729679		2203	4300	6503	SO:0001587	stop_gained	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227729679G>A	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.270G>A	2.37:g.227729679G>A	ENSP00000344779:p.Trp90*					RHBDD1_ENST00000341329.3_Nonsense_Mutation_p.W90*	p.W90*	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	4	794	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	90					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Nonsense_Mutation	SNP	ENST00000341329.3	37	c.270G>A	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.545264	0.86022	.	.	ENSG00000144468	ENST00000424132;ENST00000341329;ENST00000392062;ENST00000423616;ENST00000448992	.	.	.	6.04	5.15	0.70609	.	0.103999	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.4665	16.6284	0.84993	0.0:0.0:0.869:0.131	.	.	.	.	X	90	.	ENSP00000344779:W90X	W	+	3	0	RHBDD1	227437923	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.606000	0.82863	1.524000	0.49035	0.563000	0.77884	TGG		0.423	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			7	329	7	329	---	---	---	---
RHBDD1	84236	broad.mit.edu	37	2	227729702	227729702	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:227729702G>C	ENST00000341329.3	+	2	535	c.293G>C	c.(292-294)aGa>aCa	p.R98T	RHBDD1_ENST00000392062.2_Missense_Mutation_p.R98T	NM_032276.3	NP_115652.2	Q8TEB9	RHBL4_HUMAN	rhomboid domain containing 1	98					apoptotic process (GO:0006915)|cellular response to unfolded protein (GO:0034620)|cellular response to UV (GO:0034644)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|membrane protein intracellular domain proteolysis (GO:0031293)|membrane protein proteolysis (GO:0033619)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein processing (GO:0010954)|positive regulation of secretion (GO:0051047)|post-translational protein modification (GO:0043687)|spermatid differentiation (GO:0048515)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of endoplasmic reticulum membrane (GO:0030176)|mitochondrion (GO:0005739)	endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)	p.R98T(1)		breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		CTAGAAAGAAGACTGGGAAGT	0.423																																						ENST00000392062.2																			1	Substitution - Missense(1)	p.R98T(1)	prostate(1)	breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						c.(292-294)aGa>aCa		rhomboid domain containing 1							188.0	178.0	182.0					2																	227729702		2203	4300	6503	SO:0001583	missense	84236					integral to membrane	serine-type endopeptidase activity	g.chr2:227729702G>C	AK074258	CCDS2464.1	2q36.3	2012-07-09			ENSG00000144468	ENSG00000144468			23081	protein-coding gene	gene with protein product						12838346	Standard	NM_032276		Approved	DKFZp547E052	uc002voi.3	Q8TEB9	OTTHUMG00000133178	ENST00000341329.3:c.293G>C	2.37:g.227729702G>C	ENSP00000344779:p.Arg98Thr					RHBDD1_ENST00000341329.3_Missense_Mutation_p.R98T	p.R98T	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)	4	817	+		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)	98					Q495B9|Q53S43|Q5EBM8|Q6P5V8|Q8IV60|Q9H057	Missense_Mutation	SNP	ENST00000341329.3	37	c.293G>C	CCDS2464.1	.	.	.	.	.	.	.	.	.	.	G	19.97	3.925624	0.73213	.	.	ENSG00000144468	ENST00000424132;ENST00000341329;ENST00000392062;ENST00000423616;ENST00000448992	T;T;T;T;T	0.14022	2.54;2.54;2.54;2.54;2.54	6.04	6.04	0.98038	Peptidase S54, rhomboid domain (1);	0.110324	0.64402	D	0.000002	T	0.30103	0.0754	M	0.73319	2.225	0.40383	D	0.979467	D;D	0.69078	0.997;0.996	D;D	0.66602	0.945;0.928	T	0.03673	-1.1014	10	0.16896	T	0.51	-20.9831	10.5305	0.44973	0.1463:0.0:0.8537:0.0	.	98;98	C9K011;Q8TEB9	.;RHBD1_HUMAN	T	98	ENSP00000400765:R98T;ENSP00000344779:R98T;ENSP00000375914:R98T;ENSP00000399694:R98T;ENSP00000388847:R98T	ENSP00000344779:R98T	R	+	2	0	RHBDD1	227437946	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	4.373000	0.59537	2.873000	0.98535	0.563000	0.77884	AGA		0.423	RHBDD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256885.2			8	330	8	330	---	---	---	---
PASK	23178	broad.mit.edu	37	2	242066484	242066484	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr2:242066484C>A	ENST00000405260.1	-	10	2544	c.1846G>T	c.(1846-1848)Gaa>Taa	p.E616*	PASK_ENST00000403638.3_Nonsense_Mutation_p.E616*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E430*|PASK_ENST00000234040.4_Nonsense_Mutation_p.E616*|PASK_ENST00000539818.1_Nonsense_Mutation_p.E400*|PASK_ENST00000358649.4_Nonsense_Mutation_p.E616*	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	616					negative regulation of glycogen biosynthetic process (GO:0045719)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of energy homeostasis (GO:2000505)|regulation of glucagon secretion (GO:0070092)|regulation of respiratory gaseous exchange (GO:0043576)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AAGCCCCATTCACTCCCATAG	0.662																																						ENST00000403638.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53						c.(1846-1848)Gaa>Taa		PAS domain containing serine/threonine kinase							48.0	54.0	52.0					2																	242066484		2203	4300	6503	SO:0001587	stop_gained	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242066484C>A	U79240	CCDS2545.1, CCDS58758.1, CCDS58759.1	2q37.3	2008-05-23			ENSG00000115687	ENSG00000115687			17270	protein-coding gene	gene with protein product		607505				11688972, 11459942, 15148392	Standard	NM_001252119		Approved	PASKIN, KIAA0135, STK37	uc010fzl.2	Q96RG2	OTTHUMG00000133392	ENST00000405260.1:c.1846G>T	2.37:g.242066484C>A	ENSP00000384016:p.Glu616*					PASK_ENST00000358649.4_Nonsense_Mutation_p.E616*|PASK_ENST00000544142.1_Nonsense_Mutation_p.E430*|PASK_ENST00000405260.1_Nonsense_Mutation_p.E616*|PASK_ENST00000234040.4_Nonsense_Mutation_p.E616*|PASK_ENST00000539818.1_Nonsense_Mutation_p.E400*	p.E616*	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)	10	1937	-		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)	616					G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Nonsense_Mutation	SNP	ENST00000405260.1	37	c.1846G>T	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	C	42	9.664027	0.99233	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	.	.	.	4.16	3.28	0.37604	.	0.228496	0.30043	N	0.010558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	8.4638	0.32944	0.0:0.8878:0.0:0.1122	.	.	.	.	X	616;430;616;616;400;616	.	ENSP00000234040:E616X	E	-	1	0	PASK	241715157	0.025000	0.19082	0.040000	0.18447	0.004000	0.04260	1.077000	0.30741	1.076000	0.40961	0.561000	0.74099	GAA		0.662	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		4	156	4	156	---	---	---	---
CNTN4	152330	broad.mit.edu	37	3	2613235	2613235	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:2613235C>A	ENST00000397461.1	+	3	432	c.48C>A	c.(46-48)tgC>tgA	p.C16*	CNTN4_ENST00000427331.1_Nonsense_Mutation_p.C16*|CNTN4_ENST00000418658.1_Nonsense_Mutation_p.C16*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	16					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)		p.C16*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCATTTTGTGCCTTGCAGGTA	0.393																																						ENST00000397461.1																			1	Substitution - Nonsense(1)	p.C16*(1)	prostate(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(46-48)tgC>tgA		contactin 4							154.0	138.0	143.0					3																	2613235		1885	4109	5994	SO:0001587	stop_gained	152330				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	g.chr3:2613235C>A	AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.48C>A	3.37:g.2613235C>A	ENSP00000380602:p.Cys16*					CNTN4_ENST00000418658.1_Nonsense_Mutation_p.C16*|CNTN4_ENST00000427331.1_Nonsense_Mutation_p.C16*	p.C16*	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)	3	432	+		Ovarian(110;0.156)	16					B2RAX3|Q8IX14|Q8TC35	Nonsense_Mutation	SNP	ENST00000397461.1	37	c.48C>A	CCDS43041.1	.	.	.	.	.	.	.	.	.	.	C	42	9.641628	0.99227	.	.	ENSG00000144619	ENST00000422330;ENST00000455083;ENST00000418658;ENST00000397461;ENST00000434053;ENST00000427331	.	.	.	5.09	5.09	0.68999	.	2.387270	0.01647	N	0.024386	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.6315	0.85035	0.0:1.0:0.0:0.0	.	.	.	.	X	16	.	ENSP00000380602:C16X	C	+	3	2	CNTN4	2588235	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.479000	0.73600	2.509000	0.84616	0.491000	0.48974	TGC		0.393	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239236.2			66	111	66	111	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9482170	9482170	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482170G>A	ENST00000406341.1	+	7	788	c.598G>A	c.(598-600)Gag>Aag	p.E200K	SETD5_ENST00000402466.1_Missense_Mutation_p.E102K|SETD5_ENST00000302463.6_Missense_Mutation_p.E102K|SETD5_ENST00000402198.1_Missense_Mutation_p.E200K|SETD5_ENST00000407969.1_Missense_Mutation_p.E219K			Q9C0A6	SETD5_HUMAN	SET domain containing 5	200								p.E200K(1)|p.E102K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GAATTTAGATGAGAATACAAC	0.433																																						ENST00000402466.1																			2	Substitution - Missense(2)	p.E200K(1)|p.E102K(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(304-306)Gag>Aag		SET domain containing 5							55.0	52.0	53.0					3																	9482170		1827	4072	5899	SO:0001583	missense	55209							g.chr3:9482170G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.598G>A	3.37:g.9482170G>A	ENSP00000383939:p.Glu200Lys					SETD5_ENST00000402198.1_Missense_Mutation_p.E200K|SETD5_ENST00000407969.1_Missense_Mutation_p.E219K|SETD5_ENST00000302463.6_Missense_Mutation_p.E102K|SETD5_ENST00000406341.1_Missense_Mutation_p.E200K	p.E102K			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1072	+	Medulloblastoma(99;0.227)		200					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.304G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	33	5.266424	0.95399	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.93019	-2.78;-3.15;-2.78;-2.76;0.77;-3.15	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.95529	0.8547	L	0.47716	1.5	0.50313	D	0.999867	D;D;P	0.76494	0.999;0.997;0.892	D;D;P	0.77557	0.99;0.98;0.672	D	0.95657	0.8712	10	0.62326	D	0.03	-5.7115	19.1893	0.93658	0.0:0.0:1.0:0.0	.	102;200;219	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	K	200;102;200;219;89;102	ENSP00000385852:E200K;ENSP00000384429:E102K;ENSP00000383939:E200K;ENSP00000384114:E219K;ENSP00000408837:E89K;ENSP00000302028:E102K	ENSP00000302028:E102K	E	+	1	0	SETD5	9457170	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.420000	0.97426	2.628000	0.89032	0.563000	0.77884	GAG		0.433	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		15	39	15	39	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9482199	9482199	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482199G>A	ENST00000406341.1	+	7	817	c.627G>A	c.(625-627)cgG>cgA	p.R209R	SETD5_ENST00000402466.1_Silent_p.R111R|SETD5_ENST00000302463.6_Silent_p.R111R|SETD5_ENST00000402198.1_Silent_p.R209R|SETD5_ENST00000407969.1_Silent_p.R228R			Q9C0A6	SETD5_HUMAN	SET domain containing 5	209								p.R111R(1)|p.R209R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGGAAAATCGGATAAGACTAT	0.413																																						ENST00000402466.1																			2	Substitution - coding silent(2)	p.R111R(1)|p.R209R(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(331-333)cgG>cgA		SET domain containing 5							75.0	71.0	72.0					3																	9482199		1861	4085	5946	SO:0001819	synonymous_variant	55209							g.chr3:9482199G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.627G>A	3.37:g.9482199G>A						SETD5_ENST00000402198.1_Silent_p.R209R|SETD5_ENST00000407969.1_Silent_p.R228R|SETD5_ENST00000302463.6_Silent_p.R111R|SETD5_ENST00000406341.1_Silent_p.R209R	p.R111R			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1101	+	Medulloblastoma(99;0.227)		209					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	ENST00000406341.1	37	c.333G>A	CCDS46741.1																																																																																				0.413	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		4	50	4	50	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9482254	9482254	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482254G>A	ENST00000406341.1	+	7	872	c.682G>A	c.(682-684)Gat>Aat	p.D228N	SETD5_ENST00000402466.1_Missense_Mutation_p.D130N|SETD5_ENST00000302463.6_Missense_Mutation_p.D130N|SETD5_ENST00000402198.1_Missense_Mutation_p.D228N|SETD5_ENST00000407969.1_Missense_Mutation_p.D247N			Q9C0A6	SETD5_HUMAN	SET domain containing 5	228								p.D228N(1)|p.D130N(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GTACAGTGCAGATGTACAGAA	0.398																																						ENST00000402466.1																			2	Substitution - Missense(2)	p.D228N(1)|p.D130N(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(388-390)Gat>Aat		SET domain containing 5							99.0	94.0	96.0					3																	9482254		1895	4114	6009	SO:0001583	missense	55209							g.chr3:9482254G>A	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.682G>A	3.37:g.9482254G>A	ENSP00000383939:p.Asp228Asn					SETD5_ENST00000402198.1_Missense_Mutation_p.D228N|SETD5_ENST00000407969.1_Missense_Mutation_p.D247N|SETD5_ENST00000302463.6_Missense_Mutation_p.D130N|SETD5_ENST00000406341.1_Missense_Mutation_p.D228N	p.D130N			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1156	+	Medulloblastoma(99;0.227)		228					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.388G>A	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	36	5.745473	0.96882	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.93811	-2.86;-3.29;-2.86;-2.85;0.65;-3.29	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	D	0.95626	0.8578	L	0.50333	1.59	0.80722	D	1	D;D;D	0.89917	1.0;0.997;0.991	D;D;P	0.87578	0.998;0.989;0.833	D	0.94507	0.7715	10	0.37606	T	0.19	-5.1712	19.4739	0.94976	0.0:0.0:1.0:0.0	.	130;228;247	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	N	228;130;228;247;117;130	ENSP00000385852:D228N;ENSP00000384429:D130N;ENSP00000383939:D228N;ENSP00000384114:D247N;ENSP00000408837:D117N;ENSP00000302028:D130N	ENSP00000302028:D130N	D	+	1	0	SETD5	9457254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.420000	0.97426	2.697000	0.92050	0.655000	0.94253	GAT		0.398	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		8	55	8	55	---	---	---	---
SETD5	55209	broad.mit.edu	37	3	9482262	9482262	+	Missense_Mutation	SNP	G	G	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:9482262G>C	ENST00000406341.1	+	7	880	c.690G>C	c.(688-690)caG>caC	p.Q230H	SETD5_ENST00000402466.1_Missense_Mutation_p.Q132H|SETD5_ENST00000302463.6_Missense_Mutation_p.Q132H|SETD5_ENST00000402198.1_Missense_Mutation_p.Q230H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q249H			Q9C0A6	SETD5_HUMAN	SET domain containing 5	230								p.Q230H(1)|p.Q132H(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		CAGATGTACAGAACGCGCTTG	0.393																																						ENST00000402466.1																			2	Substitution - Missense(2)	p.Q230H(1)|p.Q132H(1)	prostate(2)	NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(394-396)caG>caC		SET domain containing 5							99.0	95.0	96.0					3																	9482262		1899	4119	6018	SO:0001583	missense	55209							g.chr3:9482262G>C	BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.690G>C	3.37:g.9482262G>C	ENSP00000383939:p.Gln230His					SETD5_ENST00000402198.1_Missense_Mutation_p.Q230H|SETD5_ENST00000407969.1_Missense_Mutation_p.Q249H|SETD5_ENST00000302463.6_Missense_Mutation_p.Q132H|SETD5_ENST00000406341.1_Missense_Mutation_p.Q230H	p.Q132H			Q9C0A6	SETD5_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.112)	9	1164	+	Medulloblastoma(99;0.227)		230					Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Missense_Mutation	SNP	ENST00000406341.1	37	c.396G>C	CCDS46741.1	.	.	.	.	.	.	.	.	.	.	G	18.69	3.677285	0.68042	.	.	ENSG00000168137	ENST00000402198;ENST00000402466;ENST00000406341;ENST00000407969;ENST00000442373;ENST00000302463	D;D;D;D;T;D	0.93307	-2.9;-3.2;-2.9;-2.89;0.61;-3.2	5.37	2.11	0.27256	.	0.000000	0.85682	D	0.000000	D	0.95335	0.8486	M	0.65498	2.005	0.42683	D	0.993555	D;D;D	0.89917	1.0;0.996;0.997	D;D;D	0.91635	0.999;0.986;0.981	D	0.94849	0.8012	10	0.87932	D	0	-11.6382	11.2569	0.49058	0.3047:0.0:0.6953:0.0	.	132;230;249	Q9C0A6-3;Q9C0A6;E7EWN3	.;SETD5_HUMAN;.	H	230;132;230;249;119;132	ENSP00000385852:Q230H;ENSP00000384429:Q132H;ENSP00000383939:Q230H;ENSP00000384114:Q249H;ENSP00000408837:Q119H;ENSP00000302028:Q132H	ENSP00000302028:Q132H	Q	+	3	2	SETD5	9457262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.689000	0.37700	0.752000	0.32923	0.655000	0.94253	CAG		0.393	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318425.1	XM_371614		11	53	11	53	---	---	---	---
U2SURP	23350	broad.mit.edu	37	3	142773862	142773862	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:142773862C>T	ENST00000473835.2	+	27	2942	c.2852C>T	c.(2851-2853)tCg>tTg	p.S951L	U2SURP_ENST00000397933.2_Missense_Mutation_p.S542L|U2SURP_ENST00000493598.2_Missense_Mutation_p.S950L	NM_001080415.1	NP_001073884.1	O15042	SR140_HUMAN	U2 snRNP-associated SURP domain containing	951	Arg/Ser-rich.				RNA processing (GO:0006396)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.S951L(2)		NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						TCACCAAAATCGGAGCGATCA	0.488																																						ENST00000397933.2																			2	Substitution - Missense(2)	p.S951L(2)	prostate(2)	NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	31						c.(1624-1626)tCg>tTg		U2 snRNP-associated SURP domain containing							72.0	66.0	68.0					3																	142773862		1915	4134	6049	SO:0001583	missense	23350				RNA processing	nucleus	nucleotide binding|RNA binding	g.chr3:142773862C>T	BK000564	CCDS46928.1	3q23	2013-02-12			ENSG00000163714	ENSG00000163714		"""RNA binding motif (RRM) containing"""	30855	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein a"", ""Ser/Arg-rich domain protein, 140 kDa"", ""U2 associated SR140 protein"""					9205841, 12234937	Standard	NM_001080415		Approved	fSAPa, SR140	uc003evh.1	O15042	OTTHUMG00000159323	ENST00000473835.2:c.2852C>T	3.37:g.142773862C>T	ENSP00000418563:p.Ser951Leu					U2SURP_ENST00000473835.2_Missense_Mutation_p.S951L|U2SURP_ENST00000493598.2_Missense_Mutation_p.S950L	p.S542L			O15042	SR140_HUMAN			26	2907	+			951			CID.		A0PJ60|Q0D2M1|Q2NKQ7|Q9BR70	Missense_Mutation	SNP	ENST00000473835.2	37	c.1625C>T	CCDS46928.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527646	0.64860	.	.	ENSG00000163714	ENST00000473835;ENST00000319822;ENST00000397933;ENST00000493598	T;T;T	0.43688	2.16;0.94;2.16	5.74	4.87	0.63330	.	0.144567	0.48767	D	0.000176	T	0.52996	0.1769	L	0.36672	1.1	0.58432	D	0.999991	D;D;D	0.69078	0.997;0.997;0.994	D;D;P	0.66847	0.947;0.947;0.885	T	0.53380	-0.8447	10	0.46703	T	0.11	-4.4285	15.1583	0.72761	0.0:0.9322:0.0:0.0678	.	950;542;951	O15042-2;O15042-3;O15042	.;.;SR140_HUMAN	L	951;951;542;950	ENSP00000418563:S951L;ENSP00000381027:S542L;ENSP00000422011:S950L	ENSP00000322376:S951L	S	+	2	0	U2SURP	144256552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.586000	0.74067	1.577000	0.49804	0.563000	0.77884	TCG		0.488	U2SURP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354603.2	NM_001080415		10	13	10	13	---	---	---	---
ZIC1	7545	broad.mit.edu	37	3	147130364	147130364	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:147130364G>A	ENST00000282928.4	+	2	1771	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	348					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D348N(2)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						TAACAGCAGCGACCGCAAGAA	0.532																																						ENST00000282928.4																			2	Substitution - Missense(2)	p.D348N(2)	large_intestine(1)|prostate(1)	central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						c.(1042-1044)Gac>Aac		Zic family member 1							123.0	101.0	109.0					3																	147130364		2203	4300	6503	SO:0001583	missense	7545				behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:147130364G>A	D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.1042G>A	3.37:g.147130364G>A	ENSP00000282928:p.Asp348Asn						p.D348N	NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN			2	1771	+			348					Q2M3N1	Missense_Mutation	SNP	ENST00000282928.4	37	c.1042G>A	CCDS3136.1	.	.	.	.	.	.	.	.	.	.	G	31	5.101396	0.94245	.	.	ENSG00000152977	ENST00000282928	T	0.07567	3.18	3.48	3.48	0.39840	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	U	0.000000	T	0.12050	0.0293	N	0.17248	0.465	0.80722	D	1	D	0.54047	0.964	P	0.55999	0.789	T	0.17592	-1.0364	10	0.87932	D	0	.	15.1592	0.72767	0.0:0.0:1.0:0.0	.	348	Q15915	ZIC1_HUMAN	N	348	ENSP00000282928:D348N	ENSP00000282928:D348N	D	+	1	0	ZIC1	148613054	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.515000	0.98015	1.772000	0.52199	0.462000	0.41574	GAC		0.532	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355497.1	NM_003412		39	208	39	208	---	---	---	---
AADAC	13	broad.mit.edu	37	3	151545911	151545911	+	Missense_Mutation	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr3:151545911G>T	ENST00000232892.7	+	5	1277	c.1151G>T	c.(1150-1152)aGt>aTt	p.S384I	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	arylacetamide deacetylase	384					positive regulation of triglyceride catabolic process (GO:0010898)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)|deacetylase activity (GO:0019213)|lipase activity (GO:0016298)|serine hydrolase activity (GO:0017171)|triglyceride lipase activity (GO:0004806)	p.S384I(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTAAAATTAGTCACAGACTT	0.348																																					Ovarian(30;839 841 2699 32801 46334)	ENST00000232892.7																			1	Substitution - Missense(1)	p.S384I(1)	prostate(1)	NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19						c.(1150-1152)aGt>aTt		arylacetamide deacetylase							50.0	53.0	52.0					3																	151545911		2201	4298	6499	SO:0001583	missense	13				positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity	g.chr3:151545911G>T	L32179	CCDS33877.1	3q25.1	2014-03-18	2012-07-13		ENSG00000114771	ENSG00000114771	3.1.1.3		17	protein-coding gene	gene with protein product		600338	"""arylacetamide deacetylase (esterase)"""			8063807	Standard	XM_005247103		Approved	DAC, CES5A1	uc003eze.3	P22760	OTTHUMG00000159876	ENST00000232892.7:c.1151G>T	3.37:g.151545911G>T	ENSP00000232892:p.Ser384Ile					RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	p.S384I	NM_001086.2	NP_001077.2	P22760	AAAD_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		5	1277	+		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)						A8K3L3|D3DNJ6|Q8N1A9	Missense_Mutation	SNP	ENST00000232892.7	37	c.1151G>T	CCDS33877.1	.	.	.	.	.	.	.	.	.	.	G	10.92	1.487173	0.26686	.	.	ENSG00000114771	ENST00000232892	T	0.58358	0.34	4.79	-0.498	0.12019	.	0.705129	0.14127	N	0.339614	T	0.46092	0.1375	M	0.67569	2.06	0.09310	N	1	P	0.37158	0.585	B	0.35813	0.211	T	0.37888	-0.9686	10	0.87932	D	0	0.1918	7.2349	0.26064	0.0704:0.479:0.3323:0.1184	.	384	P22760	AAAD_HUMAN	I	384	ENSP00000232892:S384I	ENSP00000232892:S384I	S	+	2	0	AADAC	153028601	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.903000	0.28475	-0.491000	0.06697	0.591000	0.81541	AGT		0.348	AADAC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357883.2	NM_001086		59	111	59	111	---	---	---	---
CLGN	1047	broad.mit.edu	37	4	141317358	141317358	+	Splice_Site	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:141317358C>T	ENST00000325617.5	-	9	1326	c.886G>A	c.(886-888)Gat>Aat	p.D296N	CLGN_ENST00000537281.1_Splice_Site_p.D296N|CLGN_ENST00000414773.1_Splice_Site_p.D296N	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	296					binding of sperm to zona pellucida (GO:0007339)|protein complex assembly (GO:0006461)|protein folding (GO:0006457)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)	calcium ion binding (GO:0005509)|unfolded protein binding (GO:0051082)	p.D296N(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					TCACTTTCATCCCTGTAAATA	0.338																																						ENST00000325617.5																			1	Substitution - Missense(1)	p.D296N(1)	prostate(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25						c.(886-888)Gat>Aat		calmegin							140.0	132.0	135.0					4																	141317358		2203	4300	6503	SO:0001630	splice_region_variant	1047				protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding	g.chr4:141317358C>T	D86322	CCDS3751.1	4q28.3-q31.1	2008-02-05			ENSG00000153132	ENSG00000153132			2060	protein-coding gene	gene with protein product		601858					Standard	NM_004362		Approved		uc003iii.3	O14967	OTTHUMG00000133414	ENST00000325617.5:c.885-1G>A	4.37:g.141317358C>T						CLGN_ENST00000414773.1_Splice_Site_p.D296N|CLGN_ENST00000537281.1_Splice_Site_p.D296N	p.D296N	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN			9	1326	-	all_hematologic(180;0.162)		296					B3KS90|B4DXV8|D3DNY8	Splice_Site	SNP	ENST00000325617.5	37	c.886G>A	CCDS3751.1	.	.	.	.	.	.	.	.	.	.	c	33	5.205872	0.95033	.	.	ENSG00000153132	ENST00000325617;ENST00000414773;ENST00000537281;ENST00000545667	T;T;T	0.55588	0.51;0.51;0.51	5.83	5.83	0.93111	Concanavalin A-like lectin/glucanase, subgroup (1);Calreticulin/calnexin, P (1);Calreticulin/calnexin, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.71576	0.3356	M	0.73319	2.225	0.80722	D	1	D	0.63880	0.993	D	0.63381	0.914	T	0.70189	-0.4940	10	0.48119	T	0.1	-28.6323	20.143	0.98065	0.0:1.0:0.0:0.0	.	296	O14967	CLGN_HUMAN	N	296;296;296;213	ENSP00000326699:D296N;ENSP00000392782:D296N;ENSP00000439381:D296N	ENSP00000326699:D296N	D	-	1	0	CLGN	141536808	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.773000	0.85462	2.763000	0.94921	0.550000	0.68814	GAT		0.338	CLGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257272.2	NM_004362	Missense_Mutation	63	246	63	246	---	---	---	---
FGA	2243	broad.mit.edu	37	4	155507194	155507194	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr4:155507194T>G	ENST00000302053.3	-	5	1465	c.1387A>C	c.(1387-1389)Aaa>Caa	p.K463Q	FGA_ENST00000403106.3_Missense_Mutation_p.K463Q	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	463					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)	p.K463Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GTAACGGTTTTAGAGCATGAA	0.468																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			1	Substitution - Missense(1)	p.K463Q(1)	prostate(1)	NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1387-1389)Aaa>Caa		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						201.0	206.0	204.0					4																	155507194		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507194T>G		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1387A>C	4.37:g.155507194T>G	ENSP00000306361:p.Lys463Gln					FGA_ENST00000403106.3_Missense_Mutation_p.K463Q	p.K463Q	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1465	-	all_hematologic(180;0.215)	Renal(120;0.0458)	463					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1387A>C	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.051848	0.75960	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.66995	-0.24;-0.24	5.99	5.99	0.97316	Fibrinogen alpha C domain (1);	14.608000	0.00166	N	0.000000	D	0.84206	0.5421	M	0.72118	2.19	0.29660	N	0.843324	D;D	0.71674	0.997;0.998	D;D	0.69479	0.94;0.964	T	0.67027	-0.5774	10	0.87932	D	0	.	15.0653	0.71989	0.0:0.0:0.0:1.0	.	463;463	P02671-2;P02671	.;FIBA_HUMAN	Q	463	ENSP00000306361:K463Q;ENSP00000385981:K463Q	ENSP00000306361:K463Q	K	-	1	0	FGA	155726644	1.000000	0.71417	0.028000	0.17463	0.698000	0.40448	4.180000	0.58296	2.291000	0.77112	0.533000	0.62120	AAA		0.468	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		133	312	133	312	---	---	---	---
ARAP3	64411	broad.mit.edu	37	5	141052581	141052581	+	Splice_Site	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr5:141052581C>A	ENST00000239440.4	-	7	1157	c.1092G>T	c.(1090-1092)gaG>gaT	p.E364D	ARAP3_ENST00000508305.1_Splice_Site_p.E286D|ARAP3_ENST00000513878.1_Splice_Site_p.E26D	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	364	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cytoskeleton organization (GO:0007010)|negative regulation of cell migration (GO:0030336)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Rho protein signal transduction (GO:0035024)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)	p.E364D(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGCCCTCACCCTCGCTCTCTG	0.607																																						ENST00000239440.4																			1	Substitution - Missense(1)	p.E364D(1)	prostate(1)	NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						c.(1090-1092)gaG>gaT		ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3							119.0	82.0	95.0					5																	141052581		2203	4300	6503	SO:0001630	splice_region_variant	64411				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	g.chr5:141052581C>A	AJ310567	CCDS4266.1	5q31.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000120318	ENSG00000120318		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	24097	protein-coding gene	gene with protein product		606647	"""centaurin, delta 3"""	CENTD3		11804589, 12015138	Standard	XM_005268497		Approved	FLJ21065, DRAG1	uc003llm.3	Q8WWN8	OTTHUMG00000129610	ENST00000239440.4:c.1093+1G>T	5.37:g.141052581C>A						ARAP3_ENST00000513878.1_Splice_Site_p.E26D|ARAP3_ENST00000508305.1_Splice_Site_p.E286D	p.E364D	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN			7	1157	-			364			PH 1.		B4DIT1|D3DQE3	Splice_Site	SNP	ENST00000239440.4	37	c.1092G>T	CCDS4266.1	.	.	.	.	.	.	.	.	.	.	C	7.261	0.605110	0.14002	.	.	ENSG00000120318	ENST00000522690;ENST00000508305;ENST00000239440;ENST00000513878;ENST00000504448	T;T;T;T	0.76578	2.72;-1.03;2.53;-1.03	4.23	1.16	0.20824	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.62768	0.2455	L	0.33710	1.025	0.37251	D	0.90657	B;B;B	0.26318	0.046;0.126;0.146	B;B;B	0.29524	0.103;0.05;0.048	T	0.53222	-0.8469	10	0.19147	T	0.46	.	8.1803	0.31307	0.0:0.6836:0.0:0.3164	.	26;286;364	B4DIT1;G5E9Y3;Q8WWN8	.;.;ARAP3_HUMAN	D	283;286;364;26;364	ENSP00000421826:E286D;ENSP00000239440:E364D;ENSP00000421468:E26D;ENSP00000421148:E364D	ENSP00000239440:E364D	E	-	3	2	ARAP3	141032765	1.000000	0.71417	0.999000	0.59377	0.267000	0.26476	0.635000	0.24629	0.422000	0.26005	0.462000	0.41574	GAG		0.607	ARAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251805.1	NM_022481	Missense_Mutation	3	37	3	37	---	---	---	---
DEK	7913	broad.mit.edu	37	6	18258550	18258550	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr6:18258550A>C	ENST00000397239.3	-	3	679	c.232T>G	c.(232-234)Ttt>Gtt	p.F78V	DEK_ENST00000244776.7_Intron	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	78					chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)	p.F78V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			GCAATTGTAAATGGCTCTCTC	0.363			T	NUP214	AML																																	ENST00000397239.3				Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		1	Substitution - Missense(1)	p.F78V(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(232-234)Ttt>Gtt		DEK oncogene							136.0	127.0	130.0					6																	18258550		2203	4300	6503	SO:0001583	missense	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18258550A>C	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.232T>G	6.37:g.18258550A>C	ENSP00000380414:p.Phe78Val					DEK_ENST00000244776.7_Intron	p.F78V	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		3	679	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	78					B2R6K6|B4DN37|Q5TGV4|Q5TGV5	Missense_Mutation	SNP	ENST00000397239.3	37	c.232T>G	CCDS34344.1	.	.	.	.	.	.	.	.	.	.	A	9.748	1.166811	0.21621	.	.	ENSG00000124795	ENST00000397239;ENST00000503715;ENST00000515742	T;T;T	0.47177	0.85;0.87;0.95	5.84	5.84	0.93424	.	0.159331	0.64402	D	0.000018	T	0.41190	0.1148	L	0.37750	1.13	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.33777	-0.9855	10	0.07990	T	0.79	-11.9348	14.7839	0.69787	1.0:0.0:0.0:0.0	.	78	P35659	DEK_HUMAN	V	78;11;83	ENSP00000380414:F78V;ENSP00000425399:F11V;ENSP00000423553:F83V	ENSP00000380414:F78V	F	-	1	0	DEK	18366529	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.634000	0.67833	2.220000	0.72140	0.482000	0.46254	TTT		0.363	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			56	186	56	186	---	---	---	---
INTS1	26173	broad.mit.edu	37	7	1538175	1538175	+	Missense_Mutation	SNP	G	G	A	rs377546188		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:1538175G>A	ENST00000404767.3	-	10	1383	c.1298C>T	c.(1297-1299)gCg>gTg	p.A433V	INTS1_ENST00000493531.1_5'Flank|INTS1_ENST00000389470.4_Missense_Mutation_p.A561V	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	433					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)		p.A561V(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GTCCTTGTGCGCGCTCAGCAG	0.647																																						ENST00000389470.4																			1	Substitution - Missense(1)	p.A561V(1)	prostate(1)	autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62						c.(1681-1683)gCg>gTg		integrator complex subunit 1			VAL/ALA	1,4269		0,1,2134	82.0	94.0	90.0		1298	4.8	0.1	7		90	0,8492		0,0,4246	no	missense	INTS1	NM_001080453.2	64	0,1,6380	AA,AG,GG		0.0,0.0234,0.0078	benign	433/2191	1538175	1,12761	2135	4246	6381	SO:0001583	missense	26173				snRNA processing	integral to membrane|integrator complex|nuclear membrane		g.chr7:1538175G>A	AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.1298C>T	7.37:g.1538175G>A	ENSP00000385722:p.Ala433Val					INTS1_ENST00000404767.3_Missense_Mutation_p.A433V	p.A561V			Q8N201	INT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)	11	1681	-		Ovarian(82;0.0253)	433					A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	c.1682C>T	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231768	0.39399	2.34E-4	0.0	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47177	0.85;0.86	4.84	4.84	0.62591	.	0.000000	0.85682	D	0.000000	T	0.42040	0.1185	L	0.40543	1.245	0.80722	D	1	P;P	0.39352	0.669;0.669	B;B	0.38106	0.265;0.215	T	0.28106	-1.0054	10	0.27785	T	0.31	.	17.9148	0.88945	0.0:0.0:1.0:0.0	.	561;433	A4D212;Q8N201	.;INT1_HUMAN	V	433;561	ENSP00000385722:A433V;ENSP00000374121:A561V	ENSP00000374121:A561V	A	-	2	0	INTS1	1504701	1.000000	0.71417	0.133000	0.22050	0.122000	0.20287	9.481000	0.97933	2.216000	0.71823	0.591000	0.81541	GCG		0.647	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			18	22	18	22	---	---	---	---
KCND2	3751	broad.mit.edu	37	7	120381668	120381668	+	Silent	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:120381668C>A	ENST00000331113.4	+	3	2324	c.1359C>A	c.(1357-1359)ctC>ctA	p.L453L		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	453					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.L453L(1)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	ATGGTTTACTCAGTAATCAGC	0.358																																						ENST00000331113.4																			1	Substitution - coding silent(1)	p.L453L(1)	prostate(1)	NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1357-1359)ctC>ctA		potassium voltage-gated channel, Shal-related subfamily, member 2							89.0	95.0	93.0					7																	120381668		2203	4300	6503	SO:0001819	synonymous_variant	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120381668C>A	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1359C>A	7.37:g.120381668C>A							p.L453L	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			3	2324	+	all_neural(327;0.117)		453					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Silent	SNP	ENST00000331113.4	37	c.1359C>A	CCDS5776.1	.	.	.	.	.	.	.	.	.	.	C	8.647	0.897368	0.17686	.	.	ENSG00000184408	ENST00000425288	.	.	.	5.11	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.3719	0.16144	0.1106:0.4649:0.3374:0.087	.	.	.	.	X	39	.	.	S	+	2	0	KCND2	120168904	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	0.395000	0.20850	1.114000	0.41781	0.650000	0.86243	TCA		0.358	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		30	48	30	48	---	---	---	---
MGAM	8972	broad.mit.edu	37	7	141754596	141754596	+	Silent	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:141754596C>T	ENST00000549489.2	+	27	3297	c.3202C>T	c.(3202-3204)Ctg>Ttg	p.L1068L	MGAM_ENST00000475668.2_Silent_p.L1068L	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1068	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)	p.L1068L(4)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCCAGTCCCTCTGAACATACC	0.433																																						ENST00000475668.2																			4	Substitution - coding silent(4)	p.L1068L(4)	prostate(4)	cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(3202-3204)Ctg>Ttg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						159.0	150.0	153.0					7																	141754596		1906	4114	6020	SO:0001819	synonymous_variant	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141754596C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3202C>T	7.37:g.141754596C>T						MGAM_ENST00000549489.2_Silent_p.L1068L	p.L1068L			O43451	MGA_HUMAN			27	3256	+	Melanoma(164;0.0272)		1068			Glucoamylase.		Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	ENST00000549489.2	37	c.3202C>T	CCDS47727.1																																																																																				0.433	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			118	84	118	84	---	---	---	---
TRBV10-1	28585	broad.mit.edu	37	7	142231820	142231820	+	RNA	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr7:142231820C>A	ENST00000390364.3	-	0	164									T cell receptor beta variable 10-1(gene/pseudogene)																		CTTCCTGTCTCTGTGATCTTG	0.507																																						ENST00000390364.3																			0																				139.0	131.0	134.0					7																	142231820		2015	4190	6205			28585							g.chr7:142231820C>A	U17050		7q34	2012-02-07	2008-09-12		ENSG00000211717	ENSG00000211717		"""T cell receptors / TRB locus"""	12177	other	T cell receptor gene			"""T cell receptor beta variable 10-1"""			8650574	Standard	NG_001333		Approved	TRBV101, TCRBV10S1, TCRBV12S2A1T, TCRBV12S2			OTTHUMG00000158514		7.37:g.142231820C>A														0	164	-									RNA	SNP	ENST00000390364.3	37																																																																																						0.507	TRBV10-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351220.2	NG_001333		4	136	4	136	---	---	---	---
C5	727	broad.mit.edu	37	9	123805397	123805397	+	Silent	SNP	C	C	T	rs151322743	byFrequency	TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:123805397C>T	ENST00000223642.1	-	3	335	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	102					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.V102V(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CTTCCAAATACACATAAGAAA	0.299													C|||	5	0.000998403	0.0038	0.0	5008	,	,		16240	0.0		0.0	False		,,,				2504	0.0					ENST00000223642.1																			1	Substitution - coding silent(1)	p.V102V(1)	prostate(1)	breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(304-306)gtG>gtA		complement component 5	Eculizumab(DB01257)	C		14,4392	21.2+/-45.6	0,14,2189	81.0	79.0	79.0		306	0.4	1.0	9	dbSNP_134	79	0,8600		0,0,4300	no	coding-synonymous	C5	NM_001735.2		0,14,6489	TT,TC,CC		0.0,0.3177,0.1076		102/1677	123805397	14,12992	2203	4300	6503	SO:0001819	synonymous_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123805397C>T	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.306G>A	9.37:g.123805397C>T							p.V102V	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	3	335	-			102					Q14CJ0|Q27I61	Silent	SNP	ENST00000223642.1	37	c.306G>A	CCDS6826.1																																																																																				0.299	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		23	80	23	80	---	---	---	---
HARBI1	283254	broad.mit.edu	37	11	46625305	46625305	+	Missense_Mutation	SNP	A	A	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:46625305A>C	ENST00000326737.3	-	3	1072	c.825T>G	c.(823-825)gaT>gaG	p.D275E		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	275						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nuclease activity (GO:0004518)	p.D275E(1)		large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						CCTTGGATCCATCCAGGCAGC	0.517																																						ENST00000326737.3																			1	Substitution - Missense(1)	p.D275E(1)	prostate(1)	large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						c.(823-825)gaT>gaG		harbinger transposase derived 1							104.0	95.0	98.0					11																	46625305		2201	4299	6500	SO:0001583	missense	283254					cytoplasm|nucleus	metal ion binding|nuclease activity	g.chr11:46625305A>C	AK057237	CCDS7920.1	11p11.2	2008-07-10	2008-07-01	2008-07-01	ENSG00000180423	ENSG00000180423			26522	protein-coding gene	gene with protein product		615086	"""chromosome 11 open reading frame 77"""	C11orf77		15169610, 18339812	Standard	NM_173811		Approved	FLJ32675	uc001ncy.3	Q96MB7	OTTHUMG00000166537	ENST00000326737.3:c.825T>G	11.37:g.46625305A>C	ENSP00000317743:p.Asp275Glu						p.D275E	NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN			3	1072	-			275					D3DQP9	Missense_Mutation	SNP	ENST00000326737.3	37	c.825T>G	CCDS7920.1	.	.	.	.	.	.	.	.	.	.	A	16.07	3.017462	0.54576	.	.	ENSG00000180423	ENST00000326737	.	.	.	5.96	2.22	0.28083	.	0.000000	0.85682	D	0.000000	T	0.47097	0.1427	M	0.70595	2.14	0.53005	D	0.999961	P	0.37731	0.607	B	0.33121	0.158	T	0.46091	-0.9216	9	0.06625	T	0.88	-18.8028	10.545	0.45056	0.7495:0.0:0.2505:0.0	.	275	Q96MB7	HARB1_HUMAN	E	275	.	ENSP00000317743:D275E	D	-	3	2	HARBI1	46581881	0.916000	0.31088	1.000000	0.80357	0.996000	0.88848	0.110000	0.15437	0.117000	0.18138	-0.256000	0.11100	GAT		0.517	HARBI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390291.1	NM_173811		15	33	15	33	---	---	---	---
FZD4	8322	broad.mit.edu	37	11	86662613	86662613	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662613G>A	ENST00000531380.1	-	2	1490	c.1185C>T	c.(1183-1185)ctC>ctT	p.L395L	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	395					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L395L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATAAGTAAAGAGGGGAGCCA	0.453																																						ENST00000531380.1																			1	Substitution - coding silent(1)	p.L395L(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(1183-1185)ctC>ctT		frizzled family receptor 4							112.0	107.0	108.0					11																	86662613		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662613G>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1185C>T	11.37:g.86662613G>A						PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	p.L395L	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1490	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	395					A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.1185C>T	CCDS8279.1																																																																																				0.453	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		8	182	8	182	---	---	---	---
FZD4	8322	broad.mit.edu	37	11	86662648	86662648	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662648G>A	ENST00000531380.1	-	2	1455	c.1150C>T	c.(1150-1152)Ctc>Ttc	p.L384F	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	384					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L384F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGCATCGAGATTTTGGTTT	0.483																																						ENST00000531380.1																			1	Substitution - Missense(1)	p.L384F(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(1150-1152)Ctc>Ttc		frizzled family receptor 4							119.0	105.0	110.0					11																	86662648		2201	4299	6500	SO:0001583	missense	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662648G>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.1150C>T	11.37:g.86662648G>A	ENSP00000434034:p.Leu384Phe					PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	p.L384F	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1455	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	384					A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	ENST00000531380.1	37	c.1150C>T	CCDS8279.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.632417	0.29068	.	.	ENSG00000174804	ENST00000531380	T	0.44083	0.93	5.47	3.58	0.41010	GPCR, family 2-like (1);	0.122257	0.56097	D	0.000035	T	0.42743	0.1216	M	0.79926	2.475	0.42929	D	0.994314	P	0.37636	0.603	B	0.38921	0.285	T	0.41378	-0.9512	9	.	.	.	.	6.3914	0.21589	0.2058:0.0:0.6587:0.1355	.	384	Q9ULV1	FZD4_HUMAN	F	384	ENSP00000434034:L384F	.	L	-	1	0	FZD4	86340296	1.000000	0.71417	0.988000	0.46212	0.919000	0.55068	2.220000	0.42908	1.467000	0.48044	0.561000	0.74099	CTC		0.483	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		10	150	10	150	---	---	---	---
FZD4	8322	broad.mit.edu	37	11	86662880	86662880	+	Silent	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86662880G>A	ENST00000531380.1	-	2	1223	c.918C>T	c.(916-918)ttC>ttT	p.F306F	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	306					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.F306F(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACATCAGCAAGAAAATTATTG	0.448																																						ENST00000531380.1																			1	Substitution - coding silent(1)	p.F306F(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(916-918)ttC>ttT		frizzled family receptor 4							40.0	40.0	40.0					11																	86662880		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86662880G>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.918C>T	11.37:g.86662880G>A						PRSS23_ENST00000533902.2_3'UTR	p.F306F	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1223	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	306					A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.918C>T	CCDS8279.1																																																																																				0.448	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		3	86	3	86	---	---	---	---
FZD4	8322	broad.mit.edu	37	11	86663024	86663024	+	Silent	SNP	G	G	A	rs370811133		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86663024G>A	ENST00000531380.1	-	2	1079	c.774C>T	c.(772-774)ctC>ctT	p.L258L	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	258					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.L258L(1)		breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGCACATACTGAGAAATATGA	0.458																																						ENST00000531380.1																			1	Substitution - coding silent(1)	p.L258L(1)	prostate(1)	breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(772-774)ctC>ctT		frizzled family receptor 4							40.0	42.0	42.0					11																	86663024		2201	4299	6500	SO:0001819	synonymous_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86663024G>A	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.774C>T	11.37:g.86663024G>A						PRSS23_ENST00000533902.2_3'UTR	p.L258L	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	1079	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	258					A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	ENST00000531380.1	37	c.774C>T	CCDS8279.1																																																																																				0.458	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		7	61	7	61	---	---	---	---
PATE2	399967	broad.mit.edu	37	11	125647403	125647403	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:125647403C>T	ENST00000358524.3	-	4	261	c.216G>A	c.(214-216)atG>atA	p.M72I	PATE2_ENST00000436890.2_Missense_Mutation_p.M29I	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN	prostate and testis expressed 2	72						extracellular space (GO:0005615)		p.M72I(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AATAATGATACATGCTCTGCC	0.423																																						ENST00000358524.3																			1	Substitution - Missense(1)	p.M72I(1)	prostate(1)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						c.(214-216)atG>atA		prostate and testis expressed 2							116.0	95.0	102.0					11																	125647403		2201	4299	6500	SO:0001583	missense	399967					extracellular space		g.chr11:125647403C>T	AY358105	CCDS8465.1	11q24.2	2008-12-17	2008-12-17	2008-12-17		ENSG00000196844		"""PATE family"""	32249	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 38"""	C11orf38			Standard	NM_212555		Approved	UNQ3112, LVLF3112, PATE-M	uc001qcu.3	Q6UY27		ENST00000358524.3:c.216G>A	11.37:g.125647403C>T	ENSP00000351325:p.Met72Ile					PATE2_ENST00000436890.2_Missense_Mutation_p.M29I	p.M72I	NM_212555.2	NP_997720.1	Q6UY27	PATE2_HUMAN			4	261	-			72					B2RNZ2|B7ZMG4	Missense_Mutation	SNP	ENST00000358524.3	37	c.216G>A	CCDS8465.1	.	.	.	.	.	.	.	.	.	.	C	7.438	0.640113	0.14386	.	.	ENSG00000196844	ENST00000358524;ENST00000436890	D;D	0.92249	-3.0;-3.0	5.07	4.16	0.48862	.	0.574123	0.18729	N	0.132790	D	0.89427	0.6712	M	0.63428	1.95	0.21020	N	0.999803	B;B	0.15141	0.012;0.012	B;B	0.12837	0.008;0.008	T	0.81771	-0.0780	10	0.48119	T	0.1	-22.5484	9.6085	0.39648	0.0:0.9053:0.0:0.0947	.	29;72	Q6UY27-2;Q6UY27	.;PATE2_HUMAN	I	72;29	ENSP00000351325:M72I;ENSP00000414895:M29I	ENSP00000351325:M72I	M	-	3	0	PATE2	125152613	0.903000	0.30736	0.370000	0.25965	0.250000	0.25880	1.505000	0.35736	1.504000	0.48704	0.609000	0.83330	ATG		0.423	PATE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386729.1	NM_212555		33	100	33	100	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6153556	6153556	+	Silent	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr12:6153556C>A	ENST00000261405.5	-	18	2597	c.2343G>T	c.(2341-2343)ctG>ctT	p.L781L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	781	Amino-terminal.|TIL 3.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.L781L(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTTCAGCCCGCAGGTTGTCAG	0.577																																						ENST00000261405.5																			1	Substitution - coding silent(1)	p.L781L(1)	prostate(1)	NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(2341-2343)ctG>ctT		von Willebrand factor	Antihemophilic Factor(DB00025)						89.0	74.0	79.0					12																	6153556		2203	4300	6503	SO:0001819	synonymous_variant	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6153556C>A		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.2343G>T	12.37:g.6153556C>A							p.L781L	NM_000552.3	NP_000543	P04275	VWF_HUMAN			18	2597	-			781			Amino-terminal.|TIL 3.		Q8TCE8|Q99806	Silent	SNP	ENST00000261405.5	37	c.2343G>T	CCDS8539.1																																																																																				0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		3	50	3	50	---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101588917	101588917	+	Missense_Mutation	SNP	C	C	T	rs199610556		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr12:101588917C>T	ENST00000536262.2	-	4	1051	c.493G>A	c.(493-495)Gcg>Acg	p.A165T		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.A165T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCCACTACCGCGCCCCACAGA	0.403																																					GBM(60;420 1056 13605 22380 47675)	ENST00000536262.2																			1	Substitution - Missense(1)	p.A165T(1)	prostate(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(493-495)Gcg>Acg		solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8		C	THR/ALA	0,4406		0,0,2203	78.0	70.0	73.0		493	5.6	0.8	12		73	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SLC5A8	NM_145913.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	165/611	101588917	2,13004	2203	4300	6503	SO:0001583	missense	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101588917C>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.493G>A	12.37:g.101588917C>T	ENSP00000445340:p.Ala165Thr						p.A165T	NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN			4	1051	-			165						Missense_Mutation	SNP	ENST00000536262.2	37	c.493G>A	CCDS9080.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.428880	0.62844	0.0	2.33E-4	ENSG00000256870	ENST00000536262	D	0.92149	-2.98	5.64	5.64	0.86602	.	0.047004	0.85682	D	0.000000	D	0.89962	0.6867	L	0.48935	1.535	0.80722	D	1	B	0.25105	0.118	B	0.21917	0.037	D	0.85949	0.1463	10	0.38643	T	0.18	.	19.6876	0.95986	0.0:1.0:0.0:0.0	.	165	Q8N695	SC5A8_HUMAN	T	165	ENSP00000445340:A165T	ENSP00000445340:A165T	A	-	1	0	SLC5A8	100113048	0.996000	0.38824	0.790000	0.31976	0.507000	0.33981	3.473000	0.53122	2.657000	0.90304	0.585000	0.79938	GCG		0.403	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		29	38	29	38	---	---	---	---
PPP2R5E	5529	broad.mit.edu	37	14	63858555	63858555	+	Missense_Mutation	SNP	T	T	C			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr14:63858555T>C	ENST00000337537.3	-	10	1536	c.934A>G	c.(934-936)Aaa>Gaa	p.K312E	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.K312E|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.K236E	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	312					regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)	p.K312E(1)		endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CTACATGTTTTAGGCCAAAAT	0.333																																						ENST00000337537.3																			1	Substitution - Missense(1)	p.K312E(1)	prostate(1)	endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15						c.(934-936)Aaa>Gaa		protein phosphatase 2, regulatory subunit B', epsilon isoform							85.0	84.0	84.0					14																	63858555		2203	4300	6503	SO:0001583	missense	5529				signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr14:63858555T>C	L76703	CCDS9758.1, CCDS61467.1, CCDS61468.1	14q23.2	2010-06-18	2007-01-22		ENSG00000154001	ENSG00000154001		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9313	protein-coding gene	gene with protein product		601647	"""protein phosphatase 2, regulatory subunit B (B56), epsilon isoform"""			7592815	Standard	NM_006246		Approved		uc001xgd.1	Q16537	OTTHUMG00000140341	ENST00000337537.3:c.934A>G	14.37:g.63858555T>C	ENSP00000337641:p.Lys312Glu					PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000422769.2_Missense_Mutation_p.K236E|PPP2R5E_ENST00000555899.1_Missense_Mutation_p.K312E	p.K312E	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)	10	1536	-			312					A4FU37|B7ZAW5|B7ZKK8|B7ZKK9|J3KQN6|Q52LW4	Missense_Mutation	SNP	ENST00000337537.3	37	c.934A>G	CCDS9758.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.133454	0.77662	.	.	ENSG00000154001	ENST00000337537;ENST00000555899;ENST00000422769	.	.	.	5.39	5.39	0.77823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69223	0.3087	M	0.81682	2.555	0.80722	D	1	B;B	0.34290	0.447;0.068	B;B	0.39119	0.291;0.082	T	0.73972	-0.3814	9	0.87932	D	0	-13.3746	15.6906	0.77450	0.0:0.0:0.0:1.0	.	312;312	B7ZKK9;Q16537	.;2A5E_HUMAN	E	312;312;236	.	ENSP00000337641:K312E	K	-	1	0	PPP2R5E	62928308	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.936000	0.87665	2.158000	0.67659	0.533000	0.62120	AAA		0.333	PPP2R5E-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276973.1	NM_006246		40	97	40	97	---	---	---	---
MIR654	724024	broad.mit.edu	37	14	101506035	101506035	+	RNA	SNP	G	G	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr14:101506035G>T	ENST00000385199.1	+	0	0				MIR300_ENST00000401138.1_RNA|AL132709.2_ENST00000579587.1_RNA|MIR376A1_ENST00000584362.1_RNA|MIR376C_ENST00000607441.1_RNA	NR_030390.1				microRNA 654																		TTAAAAGGTGGATATTCCTTC	0.383																																						ENST00000607441.1																			0																				106.0	93.0	97.0					14																	101506035		1568	3580	5148			442913							g.chr14:101506035G>T			14q32.31	2011-09-12		2008-12-18	ENSG00000207934	ENSG00000207934		"""ncRNAs / Micro RNAs"""	32910	non-coding RNA	RNA, micro				MIRN654			Standard	NR_030390		Approved	hsa-mir-654	uc021sda.1				14.37:g.101506035G>T								NR_029861.1						0	19	+									RNA	SNP	ENST00000385199.1	37																																																																																						0.383	MIR654-201	KNOWN	basic	miRNA	miRNA		NR_030390		36	69	36	69	---	---	---	---
RMDN3	55177	broad.mit.edu	37	15	41036294	41036294	+	Missense_Mutation	SNP	C	C	T	rs201577678		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:41036294C>T	ENST00000260385.6	-	5	1928	c.861G>A	c.(859-861)atG>atA	p.M287I	RMDN3_ENST00000338376.3_Missense_Mutation_p.M287I|RMDN3_ENST00000558560.1_Intron			Q96TC7	RMD3_HUMAN	regulator of microtubule dynamics 3	287					apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)	integral component of membrane (GO:0016021)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)											TGAGCTCACACATGTCACTGT	0.557																																						ENST00000260385.6																			0											c.(859-861)atG>atA		regulator of microtubule dynamics 3							113.0	100.0	104.0					15																	41036294		2203	4300	6503	SO:0001583	missense	55177							g.chr15:41036294C>T	AK001441	CCDS10063.1	15q15.1	2013-01-11	2013-01-11	2013-01-11	ENSG00000137824	ENSG00000137824			25550	protein-coding gene	gene with protein product		611873	"""family with sequence similarity 82, member A2"""	FAM82C, FAM82A2		12975309	Standard	XM_005254531		Approved	FLJ10579, PTPIP51, RMD3	uc001zmp.1	Q96TC7	OTTHUMG00000130066	ENST00000260385.6:c.861G>A	15.37:g.41036294C>T	ENSP00000260385:p.Met287Ile					RMDN3_ENST00000338376.3_Missense_Mutation_p.M287I|RMDN3_ENST00000558560.1_Intron	p.M287I							5	1928	-								A9UMZ9|B3KRR3|Q6ZWE9|Q96H23|Q96SD6|Q9H6G1|Q9NVQ6	Missense_Mutation	SNP	ENST00000260385.6	37	c.861G>A	CCDS10063.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976348	0.92982	.	.	ENSG00000137824	ENST00000260385;ENST00000338376;ENST00000426872	T;T	0.44083	0.93;0.93	6.17	5.26	0.73747	.	0.110897	0.85682	N	0.000000	T	0.44159	0.1280	L	0.55213	1.73	0.53688	D	0.999972	P	0.40731	0.728	B	0.41917	0.37	T	0.40136	-0.9579	10	0.46703	T	0.11	-12.1836	15.4171	0.74977	0.0:0.9331:0.0:0.0669	.	287	Q96TC7	RMD3_HUMAN	I	287;287;224	ENSP00000260385:M287I;ENSP00000342493:M287I	ENSP00000260385:M287I	M	-	3	0	FAM82A2	38823586	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.555000	0.73928	1.628000	0.50416	-0.150000	0.13652	ATG		0.557	RMDN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252357.1	NM_018145		4	143	4	143	---	---	---	---
SPATA5L1	79029	broad.mit.edu	37	15	45695108	45695108	+	Missense_Mutation	SNP	G	G	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:45695108G>A	ENST00000305560.6	+	1	580	c.481G>A	c.(481-483)Gct>Act	p.A161T	GATM_ENST00000458245.5_5'Flank|SPATA5L1_ENST00000559860.1_Missense_Mutation_p.A161T	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	161						cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.A161T(1)		kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		TGGCCTGGTGGCTGCCTTGCA	0.711																																						ENST00000305560.6																			1	Substitution - Missense(1)	p.A161T(1)	prostate(1)	kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						c.(481-483)Gct>Act		spermatogenesis associated 5-like 1							20.0	20.0	20.0					15																	45695108		2053	4093	6146	SO:0001583	missense	79029					cytoplasm	ATP binding|nucleoside-triphosphatase activity	g.chr15:45695108G>A	AK023232	CCDS10123.1	15q15.1	2010-04-21			ENSG00000171763	ENSG00000171763		"""ATPases / AAA-type"""	28762	protein-coding gene	gene with protein product						12477932	Standard	NM_024063		Approved	MGC5347, FLJ12286	uc001zve.3	Q9BVQ7	OTTHUMG00000131425	ENST00000305560.6:c.481G>A	15.37:g.45695108G>A	ENSP00000305494:p.Ala161Thr					SPATA5L1_ENST00000559860.1_Missense_Mutation_p.A161T	p.A161T	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)	1	580	+		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)	161					C9JHR5|Q9H8W7|Q9HA41	Missense_Mutation	SNP	ENST00000305560.6	37	c.481G>A	CCDS10123.1	.	.	.	.	.	.	.	.	.	.	g	9.108	1.005952	0.19199	.	.	ENSG00000171763	ENST00000305560	D	0.93604	-3.25	4.58	3.67	0.42095	.	0.650048	0.16252	N	0.222643	D	0.89396	0.6703	M	0.63428	1.95	0.24389	N	0.994758	P	0.39480	0.675	B	0.33960	0.173	T	0.78922	-0.2013	10	0.13470	T	0.59	-2.9841	11.5161	0.50522	0.0881:0.0:0.9119:0.0	.	161	Q9BVQ7	SPA5L_HUMAN	T	161	ENSP00000305494:A161T	ENSP00000305494:A161T	A	+	1	0	SPATA5L1	43482400	0.966000	0.33281	0.885000	0.34714	0.128000	0.20619	1.817000	0.39002	1.167000	0.42706	-0.150000	0.13652	GCT		0.711	SPATA5L1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254218.1	NM_024063		7	37	7	37	---	---	---	---
MYO1E	4643	broad.mit.edu	37	15	59564611	59564611	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:59564611T>G	ENST00000288235.4	-	2	440	c.41A>C	c.(40-42)cAc>cCc	p.H14P	RP11-429D19.1_ENST00000560248.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	14					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.H14P(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTTGACATTGTGGCTTTGCCA	0.438																																						ENST00000288235.4																			1	Substitution - Missense(1)	p.H14P(1)	prostate(1)	breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33						c.(40-42)cAc>cCc		myosin IE							177.0	150.0	159.0					15																	59564611		2190	4290	6480	SO:0001583	missense	4643				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	g.chr15:59564611T>G	U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.41A>C	15.37:g.59564611T>G	ENSP00000288235:p.His14Pro						p.H14P	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN		all cancers(107;0.207)	2	440	-			14			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	c.41A>C	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.210364	0.58343	.	.	ENSG00000157483	ENST00000288235	D	0.95171	-3.63	5.21	5.21	0.72293	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.93779	0.8011	L	0.60455	1.87	0.80722	D	1	P	0.48016	0.904	P	0.46362	0.514	D	0.93345	0.6713	10	0.41790	T	0.15	.	15.0808	0.72113	0.0:0.0:0.0:1.0	.	14	Q12965	MYO1E_HUMAN	P	14	ENSP00000288235:H14P	ENSP00000288235:H14P	H	-	2	0	MYO1E	57351903	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	8.040000	0.89188	1.970000	0.57323	0.533000	0.62120	CAC		0.438	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1	NM_004998		62	131	62	131	---	---	---	---
VPS33B	26276	broad.mit.edu	37	15	91549291	91549291	+	Splice_Site	SNP	T	T	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr15:91549291T>A	ENST00000333371.3	-	12	1206		c.e12-2		VPS33B_ENST00000535906.1_Splice_Site|VPS33B_ENST00000535843.1_Splice_Site	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)						lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)		p.?(1)		central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					ATTAAACACCTGTGAGGACAG	0.473																																						ENST00000333371.3																			1	Unknown(1)	p.?(1)	prostate(1)	central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	GRCh37	CS065630	VPS33B	S		c.e12-2		vacuolar protein sorting 33 homolog B (yeast)							52.0	49.0	50.0					15																	91549291		2198	4298	6496	SO:0001630	splice_region_variant	26276				cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding	g.chr15:91549291T>A	AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.853-2A>T	15.37:g.91549291T>A						VPS33B_ENST00000535843.1_Splice_Site|VPS33B_ENST00000535906.1_Splice_Site		NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN			12	1206	-	Lung NSC(78;0.0987)|all_lung(78;0.175)							B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Splice_Site	SNP	ENST00000333371.3	37		CCDS10369.1	.	.	.	.	.	.	.	.	.	.	T	17.98	3.520348	0.64747	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5052	0.75731	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	VPS33B	89350295	1.000000	0.71417	0.983000	0.44433	0.563000	0.35712	5.146000	0.64845	2.326000	0.78906	0.533000	0.62120	.		0.473	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313496.1	NM_018668	Intron	3	77	3	77	---	---	---	---
ITFG1	81533	broad.mit.edu	37	16	47189690	47189690	+	Splice_Site	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:47189690C>A	ENST00000320640.6	-	18	2008		c.e18-1		RP11-329J18.2_ENST00000565694.1_RNA|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000568047.1_Splice_Site|ITFG1_ENST00000544001.2_Splice_Site	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.?(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				CATCTGCTTTCTGAAAAAGAA	0.333																																						ENST00000320640.6																			1	Unknown(1)	p.?(1)	prostate(1)	breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.e18-1		integrin alpha FG-GAP repeat containing 1							124.0	134.0	131.0					16																	47189690		2202	4300	6502	SO:0001630	splice_region_variant	81533					extracellular region|integral to membrane		g.chr16:47189690C>A	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1780-1G>T	16.37:g.47189690C>A						ITFG1_ENST00000568047.1_Splice_Site|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_Splice_Site		NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			18	2008	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)						Q96SR4|Q9BRE2|Q9H2V9	Splice_Site	SNP	ENST00000320640.6	37		CCDS10728.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112497	0.77210	.	.	ENSG00000129636	ENST00000320640;ENST00000537184;ENST00000542691;ENST00000544001	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6105	0.91283	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ITFG1	45747191	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.864000	0.75494	2.470000	0.83445	0.563000	0.77884	.		0.333	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790	Intron	132	275	132	275	---	---	---	---
HOXB2	3212	broad.mit.edu	37	17	46622154	46622154	+	Silent	SNP	C	C	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr17:46622154C>G	ENST00000330070.4	-	1	1287	c.120G>C	c.(118-120)tcG>tcC	p.S40S	HOXB2_ENST00000504772.3_5'Flank|HOXB-AS1_ENST00000502764.2_RNA|HOXB-AS1_ENST00000504972.3_RNA|HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2	40					anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S40S(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						GAATTAATGTCGACTCCTTGA	0.557																																						ENST00000330070.4																			1	Substitution - coding silent(1)	p.S40S(1)	prostate(1)	NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						c.(118-120)tcG>tcC		homeobox B2							50.0	59.0	56.0					17																	46622154		2203	4300	6503	SO:0001819	synonymous_variant	3212				blood circulation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46622154C>G		CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.120G>C	17.37:g.46622154C>G						HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000504972.3_RNA	p.S40S	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN			1	1287	-			40					P10913|P17485	Silent	SNP	ENST00000330070.4	37	c.120G>C	CCDS11527.1																																																																																				0.557	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358384.2			11	126	11	126	---	---	---	---
MTCL1	23255	broad.mit.edu	37	18	8798101	8798101	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr18:8798101C>A	ENST00000306329.11	+	8	3205	c.3205C>A	c.(3205-3207)Cat>Aat	p.H1069N	SOGA2_ENST00000400050.3_Missense_Mutation_p.H709N|SOGA2_ENST00000517570.1_Missense_Mutation_p.H709N|SOGA2_ENST00000518815.1_Missense_Mutation_p.H65N|SOGA2_ENST00000359865.3_Missense_Mutation_p.H750N|SOGA2_ENST00000306285.7_Missense_Mutation_p.H65N														p.H750N(1)									TCAGGGTGAACATCCAGAGAC	0.547																																						ENST00000359865.3																			1	Substitution - Missense(1)	p.H750N(1)	prostate(1)								c.(2248-2250)Cat>Aat		SOGA family member 2							46.0	41.0	43.0					18																	8798101		2203	4300	6503	SO:0001583	missense	23255							g.chr18:8798101C>A																												ENST00000306329.11:c.3205C>A	18.37:g.8798101C>A	ENSP00000305027:p.His1069Asn					SOGA2_ENST00000306329.11_Missense_Mutation_p.H1069N|SOGA2_ENST00000400050.3_Missense_Mutation_p.H709N|SOGA2_ENST00000306285.7_Missense_Mutation_p.H65N|SOGA2_ENST00000517570.1_Missense_Mutation_p.H709N|SOGA2_ENST00000518815.1_Missense_Mutation_p.H65N	p.H750N	NM_015210.3	NP_056025.2	Q9Y4B5	CC165_HUMAN			10	2390	+			1060						Missense_Mutation	SNP	ENST00000306329.11	37	c.2248C>A		.	.	.	.	.	.	.	.	.	.	C	9.799	1.180012	0.21787	.	.	ENSG00000168502	ENST00000306329;ENST00000517570;ENST00000359865;ENST00000400050;ENST00000306285	T;T;T;T	0.53423	0.62;0.62;0.62;0.62	5.28	5.28	0.74379	.	0.257624	0.28119	N	0.016539	T	0.40347	0.1113	L	0.43152	1.355	0.26750	N	0.970219	B;B	0.12630	0.006;0.006	B;B	0.11329	0.003;0.006	T	0.16012	-1.0417	10	0.15499	T	0.54	-7.4936	16.0043	0.80349	0.0:1.0:0.0:0.0	.	1060;750	Q9Y4B5;Q9Y4B5-3	CC165_HUMAN;.	N	771;709;750;709;65	ENSP00000429556:H709N;ENSP00000352927:H750N;ENSP00000382924:H709N;ENSP00000303670:H65N	ENSP00000303670:H65N	H	+	1	0	CCDC165	8788101	0.998000	0.40836	0.967000	0.41034	0.149000	0.21700	2.951000	0.49089	2.630000	0.89119	0.650000	0.86243	CAT		0.547	SOGA2-015	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000444141.1			3	59	3	59	---	---	---	---
SERPINB2	5055	broad.mit.edu	37	18	61558743	61558743	+	Missense_Mutation	SNP	C	C	G	rs376346521		TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr18:61558743C>G	ENST00000299502.4	+	2	145	c.65C>G	c.(64-66)gCa>gGa	p.A22G	SERPINB2_ENST00000457692.1_Missense_Mutation_p.A22G	NM_002575.2	NP_002566.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	22					blood coagulation (GO:0007596)|fibrinolysis (GO:0042730)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.A22G(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Tenecteplase(DB00031)|Urokinase(DB00013)	CTGGCAAAAGCAAGCCCCACC	0.502																																						ENST00000457692.1																			1	Substitution - Missense(1)	p.A22G(1)	prostate(1)	NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32						c.(64-66)gCa>gGa		serpin peptidase inhibitor, clade B (ovalbumin), member 2	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	C	GLY/ALA,GLY/ALA	0,4406		0,0,2203	98.0	92.0	94.0		65,65	-3.8	0.0	18		94	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SERPINB2	NM_001143818.1,NM_002575.2	60,60	0,1,6502	GG,GC,CC		0.0116,0.0,0.0077	benign,benign	22/416,22/416	61558743	1,13005	2203	4300	6503	SO:0001583	missense	5055				anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr18:61558743C>G	Y00630	CCDS11989.1	18q21.3	2014-02-18	2005-08-18		ENSG00000197632	ENSG00000197632		"""Serine (or cysteine) peptidase inhibitors"""	8584	protein-coding gene	gene with protein product		173390	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 2"""	PLANH2, PAI2		24172014	Standard	NM_002575		Approved	HsT1201	uc002ljo.3	P05120	OTTHUMG00000060592	ENST00000299502.4:c.65C>G	18.37:g.61558743C>G	ENSP00000299502:p.Ala22Gly					SERPINB2_ENST00000299502.4_Missense_Mutation_p.A22G	p.A22G	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN			3	398	+		Esophageal squamous(42;0.131)	22					Q96E96	Missense_Mutation	SNP	ENST00000299502.4	37	c.65C>G	CCDS11989.1	.	.	.	.	.	.	.	.	.	.	C	1.196	-0.633763	0.03584	0.0	1.16E-4	ENSG00000197632	ENST00000404622;ENST00000299502;ENST00000457692;ENST00000413956;ENST00000443281	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	5.29	-3.82	0.04281	Serpin domain (3);	3.027290	0.00888	N	0.002207	T	0.71409	0.3336	N	0.20328	0.56	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.55179	-0.8181	10	0.32370	T	0.25	.	2.7491	0.05275	0.1224:0.2667:0.1203:0.4906	.	22	P05120	PAI2_HUMAN	G	22	ENSP00000385397:A22G;ENSP00000299502:A22G;ENSP00000401645:A22G;ENSP00000402386:A22G;ENSP00000397096:A22G	ENSP00000299502:A22G	A	+	2	0	SERPINB2	59709723	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.540000	0.02200	-0.738000	0.04817	-0.312000	0.09012	GCA		0.502	SERPINB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000134009.1	NM_002575		41	36	41	36	---	---	---	---
DUS3L	56931	broad.mit.edu	37	19	5787682	5787682	+	Missense_Mutation	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr19:5787682C>T	ENST00000309061.7	-	6	1226	c.1130G>A	c.(1129-1131)tGt>tAt	p.C377Y	CTB-54O9.9_ENST00000586012.1_5'Flank|PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000320699.8_Missense_Mutation_p.C135Y|DUS3L_ENST00000590681.1_5'Flank	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	377							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)	p.C377Y(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CAGCTCGGCACACTTGGTCAT	0.627																																						ENST00000309061.7																			1	Substitution - Missense(1)	p.C377Y(1)	prostate(1)	endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						c.(1129-1131)tGt>tAt		dihydrouridine synthase 3-like (S. cerevisiae)							156.0	136.0	143.0					19																	5787682		2203	4300	6503	SO:0001583	missense	56931				tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding	g.chr19:5787682C>T		CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1130G>A	19.37:g.5787682C>T	ENSP00000311977:p.Cys377Tyr					DUS3L_ENST00000320699.8_Missense_Mutation_p.C135Y	p.C377Y	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN			6	1226	-			377					Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Missense_Mutation	SNP	ENST00000309061.7	37	c.1130G>A	CCDS32880.1	.	.	.	.	.	.	.	.	.	.	C	18.12	3.552413	0.65311	.	.	ENSG00000141994	ENST00000309061;ENST00000320699	T;T	0.31510	1.49;1.49	3.67	3.67	0.42095	Aldolase-type TIM barrel (1);	0.000000	0.85682	U	0.000000	T	0.56411	0.1983	M	0.85945	2.785	0.53688	D	0.999975	P;D	0.58620	0.917;0.983	P;D	0.65684	0.496;0.937	T	0.65278	-0.6207	10	0.87932	D	0	-6.9138	12.9484	0.58386	0.0:1.0:0.0:0.0	.	135;377	Q96G46-3;Q96G46	.;DUS3L_HUMAN	Y	377;135	ENSP00000311977:C377Y;ENSP00000315558:C135Y	ENSP00000311977:C377Y	C	-	2	0	DUS3L	5738682	1.000000	0.71417	0.881000	0.34555	0.904000	0.53231	7.460000	0.80816	1.620000	0.50308	0.456000	0.33151	TGT		0.627	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451870.2	NM_020175		64	139	64	139	---	---	---	---
EMR3	84658	broad.mit.edu	37	19	14758071	14758071	+	Missense_Mutation	SNP	C	C	A			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr19:14758071C>A	ENST00000253673.5	-	8	904	c.804G>T	c.(802-804)caG>caT	p.Q268H	EMR3_ENST00000344373.4_Missense_Mutation_p.Q216H|EMR3_ENST00000599900.1_Missense_Mutation_p.Q53H|EMR3_ENST00000443157.2_Missense_Mutation_p.Q142H	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	268					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						CACTCACAACCTGAGAGTTCA	0.423																																						ENST00000253673.5																			0				NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						c.(802-804)caG>caT		egf-like module containing, mucin-like, hormone receptor-like 3							203.0	164.0	177.0					19																	14758071		2203	4300	6503	SO:0001583	missense	84658				neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr19:14758071C>A	AF239764	CCDS12315.1, CCDS74296.1, CCDS74297.1	19p13.1	2014-08-08				ENSG00000131355		"""-"", ""GPCR / Class B : Orphans"""	23647	protein-coding gene	gene with protein product		606101				11279179, 12975309	Standard	XM_005260118		Approved		uc002mzi.4	Q9BY15		ENST00000253673.5:c.804G>T	19.37:g.14758071C>A	ENSP00000253673:p.Gln268His					EMR3_ENST00000443157.2_Missense_Mutation_p.Q142H|EMR3_ENST00000344373.4_Missense_Mutation_p.Q216H|EMR3_ENST00000599900.1_Missense_Mutation_p.Q53H	p.Q268H	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN			8	904	-			268						Missense_Mutation	SNP	ENST00000253673.5	37	c.804G>T	CCDS12315.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.802679	0.00611	.	.	ENSG00000131355	ENST00000443157;ENST00000253673;ENST00000344373	T;T;T	0.40225	1.04;2.96;2.96	3.94	-3.64	0.04515	.	.	.	.	.	T	0.15696	0.0378	N	0.05124	-0.11	0.09310	N	1	B;B;B	0.10296	0.003;0.002;0.0	B;B;B	0.17979	0.02;0.012;0.003	T	0.19192	-1.0313	9	0.26408	T	0.33	.	1.4117	0.02292	0.1546:0.3534:0.2765:0.2155	.	142;216;268	E7EW83;Q9BY15-2;Q9BY15	.;.;EMR3_HUMAN	H	142;268;216	ENSP00000396208:Q142H;ENSP00000253673:Q268H;ENSP00000340758:Q216H	ENSP00000253673:Q268H	Q	-	3	2	EMR3	14619071	0.001000	0.12720	0.566000	0.28421	0.007000	0.05969	-0.774000	0.04684	-0.478000	0.06823	-0.178000	0.13098	CAG		0.423	EMR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466488.1	NM_032571		5	294	5	294	---	---	---	---
SRMS	6725	broad.mit.edu	37	20	62172641	62172641	+	Missense_Mutation	SNP	C	C	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr20:62172641C>G	ENST00000217188.1	-	7	1228	c.1188G>C	c.(1186-1188)gaG>gaC	p.E396D		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	396	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)	p.E396D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AATTGGCCGCCTCAGGCGCTG	0.617																																						ENST00000217188.1																			1	Substitution - Missense(1)	p.E396D(1)	prostate(1)	breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(1186-1188)gaG>gaC		src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites							108.0	117.0	114.0					20																	62172641		2203	4299	6502	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172641C>G		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1188G>C	20.37:g.62172641C>G	ENSP00000217188:p.Glu396Asp						p.E396D	NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		7	1228	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		396			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.1188G>C	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.710691	0.48517	.	.	ENSG00000125508	ENST00000217188	T	0.36157	1.27	4.84	2.86	0.33363	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.56097	D	0.000025	T	0.65333	0.2681	H	0.94698	3.57	0.40396	D	0.979594	D	0.60160	0.987	D	0.65573	0.936	T	0.74331	-0.3700	10	0.87932	D	0	.	10.4146	0.44314	0.0:0.7712:0.0:0.2288	.	396	Q9H3Y6	SRMS_HUMAN	D	396	ENSP00000217188:E396D	ENSP00000217188:E396D	E	-	3	2	SRMS	61643085	0.979000	0.34478	0.959000	0.39883	0.125000	0.20455	0.144000	0.16135	1.179000	0.42884	0.561000	0.74099	GAG		0.617	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823		45	229	45	229	---	---	---	---
GPR174	84636	broad.mit.edu	37	X	78426887	78426887	+	Missense_Mutation	SNP	A	A	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:78426887A>G	ENST00000276077.1	+	1	419	c.383A>G	c.(382-384)gAc>gGc	p.D128G		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	128						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.D128G(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CGCTTCCATGACTGCAAACAG	0.458										HNSCC(63;0.18)																												ENST00000276077.1																			1	Substitution - Missense(1)	p.D128G(1)	prostate(1)	central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						c.(382-384)gAc>gGc		G protein-coupled receptor 174							215.0	192.0	200.0					X																	78426887		2203	4300	6503	SO:0001583	missense	84636					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78426887A>G	AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.383A>G	X.37:g.78426887A>G	ENSP00000276077:p.Asp128Gly	HNSCC(63;0.18)					p.D128G	NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN			1	419	+			128					Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	c.383A>G	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	a	14.58	2.578656	0.46006	.	.	ENSG00000147138	ENST00000276077	T	0.36699	1.24	5.06	5.06	0.68205	GPCR, rhodopsin-like superfamily (1);	0.261386	0.37809	N	0.001928	T	0.30355	0.0762	L	0.36672	1.1	0.43824	D	0.996393	B	0.21688	0.059	B	0.28465	0.09	T	0.07347	-1.0777	10	0.23891	T	0.37	.	12.6732	0.56878	1.0:0.0:0.0:0.0	.	128	Q9BXC1	GP174_HUMAN	G	128	ENSP00000276077:D128G	ENSP00000276077:D128G	D	+	2	0	GPR174	78313543	1.000000	0.71417	0.990000	0.47175	0.934000	0.57294	3.393000	0.52544	1.671000	0.50874	0.397000	0.26171	GAC		0.458	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553		124	63	124	63	---	---	---	---
PNMA5	114824	broad.mit.edu	37	X	152158951	152158951	+	Missense_Mutation	SNP	T	T	G			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrX:152158951T>G	ENST00000439251.1	-	2	1630	c.1192A>C	c.(1192-1194)Agt>Cgt	p.S398R	PNMA5_ENST00000361887.5_Missense_Mutation_p.S398R|PNMA5_ENST00000535214.1_Missense_Mutation_p.S398R|PNMA5_ENST00000452693.1_Missense_Mutation_p.S398R	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	398					positive regulation of apoptotic process (GO:0043065)			p.S398R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GTGCTTTCACTGCCTAACAGC	0.597																																						ENST00000439251.1																			1	Substitution - Missense(1)	p.S398R(1)	prostate(1)	breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1192-1194)Agt>Cgt		paraneoplastic Ma antigen family member 5							116.0	101.0	106.0					X																	152158951		2203	4300	6503	SO:0001583	missense	114824				apoptosis			g.chrX:152158951T>G	AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.1192A>C	X.37:g.152158951T>G	ENSP00000388850:p.Ser398Arg					PNMA5_ENST00000452693.1_Missense_Mutation_p.S398R|PNMA5_ENST00000361887.5_Missense_Mutation_p.S398R|PNMA5_ENST00000535214.1_Missense_Mutation_p.S398R	p.S398R	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN			2	1630	-	Acute lymphoblastic leukemia(192;6.56e-05)		398					B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	ENST00000439251.1	37	c.1192A>C	CCDS14718.1	.	.	.	.	.	.	.	.	.	.	t	3.330	-0.136954	0.06711	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	2.85	-5.69	0.02428	.	.	.	.	.	T	0.01695	0.0054	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.40021	-0.9585	9	0.17832	T	0.49	-5.1527	0.5727	0.00698	0.4025:0.2239:0.1955:0.1782	.	398	Q96PV4	PNMA5_HUMAN	R	398	ENSP00000354834:S398R;ENSP00000445775:S398R;ENSP00000388850:S398R;ENSP00000392342:S398R	ENSP00000354834:S398R	S	-	1	0	PNMA5	151909607	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.274000	0.02820	-2.766000	0.00367	0.237000	0.17872	AGT		0.597	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060925.1	NM_052926		74	42	74	42	---	---	---	---
MT-ND5	4540	broad.mit.edu	37	M	14097	14097	+	Silent	SNP	C	C	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chrM:14097C>T	ENST00000361567.2	+	1	1761	c.1761C>T	c.(1759-1761)taC>taT	p.Y587Y	MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TH_ENST00000387441.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	587					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						ATTAAACTTTACTTCCTCTCT	0.388																																						ENST00000361567.2																			0				breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						c.(1759-1761)taC>taT		mitochondrially encoded NADH dehydrogenase 5	NADH(DB00157)																																			SO:0001819	synonymous_variant	4540				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chrM:14097C>T			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1761C>T	M.37:g.14097C>T							p.Y587Y			P03915	NU5M_HUMAN			1	1761	+			587					Q34773|Q8WCY3	Silent	SNP	ENST00000361567.2	37	c.1761C>T																																																																																					0.388	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		YP_003024036		25	2	25	2	---	---	---	---
GAPVD1	26130	broad.mit.edu	37	9	128122940	128122940	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr9:128122940delC	ENST00000495955.1	+	27	4522	c.4232delC	c.(4231-4233)gccfs	p.A1411fs	GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.A1345fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.A1420fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.A1411fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.A1393fs|GAPVD1_ENST00000470056.1_Frame_Shift_Del_p.A1366fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.A1372fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.A1385fs			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1411	VPS9. {ECO:0000255|PROSITE- ProRule:PRU00550}.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|regulation of protein transport (GO:0051223)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)	GTPase activating protein binding (GO:0032794)|GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CTGAGCCTGGCCAATGAGGAC	0.468																																						ENST00000470056.1																			0				central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(4096-4098)gccfs		GTPase activating protein and VPS9 domains 1							241.0	197.0	212.0					9																	128122940		2203	4300	6503	SO:0001589	frameshift_variant	26130				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	g.chr9:128122940delC		CCDS65130.1, CCDS65131.1, CCDS65132.1	9q34.11	2008-02-05			ENSG00000165219	ENSG00000165219			23375	protein-coding gene	gene with protein product		611714					Standard	XM_005251901		Approved	DKFZP434C212, KIAA1521	uc004bpr.3	Q14C86	OTTHUMG00000020678	ENST00000495955.1:c.4232delC	9.37:g.128122940delC	ENSP00000419063:p.Ala1411fs					GAPVD1_ENST00000394083.2_Frame_Shift_Del_p.A1345fs|GAPVD1_ENST00000312123.9_Frame_Shift_Del_p.A1372fs|GAPVD1_ENST00000495955.1_Frame_Shift_Del_p.A1411fs|GAPVD1_ENST00000297933.6_Frame_Shift_Del_p.A1393fs|GAPVD1_ENST00000265956.4_Frame_Shift_Del_p.A1385fs|GAPVD1_ENST00000394105.2_Frame_Shift_Del_p.A1420fs|GAPVD1_ENST00000394104.2_Frame_Shift_Del_p.A1411fs	p.A1366fs			Q14C86	GAPD1_HUMAN			24	4257	+			1411			VPS9.		A8MYK3|B0QZ62|B0QZ63|B0QZ64|Q14C76|Q2Q1W1|Q8ND92|Q8WU86|Q96CZ4|Q9NXQ1|Q9P207|Q9Y4N0	Frame_Shift_Del	DEL	ENST00000495955.1	37	c.4097delC																																																																																					0.468	GAPVD1-014	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000355644.1			93	200	93	200	---	---	---	---
FZD4	8322	broad.mit.edu	37	11	86663230	86663231	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr11:86663230_86663231insT	ENST00000531380.1	-	2	872_873	c.567_568insA	c.(565-570)gatcagfs	p.Q190fs	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	190					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGATGTACTGATCAGAATTGG	0.515																																						ENST00000531380.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21						c.(565-570)gatcagfs		frizzled family receptor 4																																				SO:0001589	frameshift_variant	8322				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding	g.chr11:86663230_86663231insT	AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.567_568insA	11.37:g.86663230_86663231insT	ENSP00000434034:p.Gln190fs					PRSS23_ENST00000533902.2_3'UTR	p.Q190fs	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN			2	872_873	-		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)	190					A8K9Q3|Q14C97|Q6S9E4	Frame_Shift_Ins	INS	ENST00000531380.1	37	c.567_568insA	CCDS8279.1																																																																																				0.515	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393818.2	NM_012193		7	234	7	234	---	---	---	---
ITFG1	81533	broad.mit.edu	37	16	47189674	47189674	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CH-5761-01A-11D-1576-08	TCGA-CH-5761-11A-01D-1576-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb9b1203-fc4a-40c9-867a-436a54c61cf3	b8efa698-2592-447e-b038-3b4da4ebf6de	g.chr16:47189674delC	ENST00000320640.6	-	18	2023	c.1795delG	c.(1795-1797)gaafs	p.E599fs	RP11-329J18.2_ENST00000565694.1_RNA|RP11-329J18.2_ENST00000564705.1_RNA|ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_3'UTR	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	599						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TGTCGTTTTTCTCTATCATCT	0.323																																						ENST00000320640.6																			0				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19						c.(1795-1797)gaafs		integrin alpha FG-GAP repeat containing 1							153.0	165.0	161.0					16																	47189674		2202	4300	6502	SO:0001589	frameshift_variant	81533					extracellular region|integral to membrane		g.chr16:47189674delC	AF503339	CCDS10728.1	16q12.1	2008-02-05			ENSG00000129636	ENSG00000129636			30697	protein-coding gene	gene with protein product	"""T cell immunomodulatory protein"""	611803				12598909	Standard	NM_030790		Approved	CDA08, TIP	uc002eet.3	Q8TB96	OTTHUMG00000133103	ENST00000320640.6:c.1795delG	16.37:g.47189674delC	ENSP00000319918:p.Glu599fs					ITFG1_ENST00000568047.1_5'UTR|RP11-329J18.2_ENST00000564705.1_RNA|RP11-329J18.2_ENST00000565694.1_RNA|ITFG1_ENST00000544001.2_3'UTR	p.E599fs	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN			18	2023	-		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)	599					Q96SR4|Q9BRE2|Q9H2V9	Frame_Shift_Del	DEL	ENST00000320640.6	37	c.1795delG	CCDS10728.1																																																																																				0.323	ITFG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256768.3	NM_030790		208	362	208	362	---	---	---	---
