#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_filter	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
CHD5	26038	broad.mit.edu	37	1	6202587	6202587	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:6202587G>A	ENST00000262450.3	-	14	2221	c.2122C>T	c.(2122-2124)Ctc>Ttc	p.L708F	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	O00258	WRB_HUMAN	chromodomain helicase DNA binding protein 5	0					tail-anchored membrane protein insertion into ER membrane (GO:0071816)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)		p.L708F(1)		breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		AGCCAGTTGAGGCCCTCCAGC	0.617																																						uc001amb.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|breast(3)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1)	12						c.(2122-2124)CTC>TTC		chromodomain helicase DNA binding protein 5							127.0	90.0	102.0					1																	6202587		2203	4300	6503	SO:0001583	missense	26038				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding	g.chr1:6202587G>A	AF425231	CCDS57.1	1p36.3	2013-01-28			ENSG00000116254	ENSG00000116254		"""Zinc fingers, PHD-type"""	16816	protein-coding gene	gene with protein product		610771				11889561, 12592387	Standard	NM_015557		Approved		uc001amb.2	Q8TDI0	OTTHUMG00000000952	ENST00000262450.3:c.2122C>T	1.37:g.6202587G>A	ENSP00000262450:p.Leu708Phe					CHD5_uc001ama.1_RNA|CHD5_uc001amc.1_RNA	p.L708F	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)	14	2222	-	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	708					A8KAP8|A8MQ44|D3DSH9|O60740	Missense_Mutation	SNP	ENST00000262450.3	37	c.2122C>T	CCDS57.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977063	0.74360	.	.	ENSG00000116254	ENST00000262450;ENST00000378006;ENST00000536802;ENST00000538279	D	0.94184	-3.37	3.43	3.43	0.39272	DEAD-like helicase (1);SNF2-related (1);	0.000000	0.64402	D	0.000012	D	0.94079	0.8102	L	0.51422	1.61	0.80722	D	1	D	0.76494	0.999	D	0.65773	0.938	D	0.93748	0.7056	10	0.87932	D	0	-20.4455	9.3074	0.37883	0.1013:0.0:0.8987:0.0	.	708	Q8TDI0	CHD5_HUMAN	F	708;224;116;116	ENSP00000262450:L708F	ENSP00000262450:L708F	L	-	1	0	CHD5	6125174	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.734000	0.84928	1.895000	0.54865	0.561000	0.74099	CTC		PASS	0.617	CHD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002823.2	NM_015557		28	69	28	69	---	---	---	---
PRAMEF2	65122	broad.mit.edu	37	1	12919947	12919947	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:12919947G>A	ENST00000240189.2	+	3	774	c.687G>A	c.(685-687)aaG>aaA	p.K229K		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	229					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.K229K(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTTACCTGAAGGAGATGAAGA	0.403																																						uc001aum.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(685-687)AAG>AAA		PRAME family member 2							107.0	112.0	110.0					1																	12919947		2203	4299	6502	SO:0001819	synonymous_variant	65122							g.chr1:12919947G>A		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.687G>A	1.37:g.12919947G>A							p.K229K	NM_023014	NP_075390	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	774	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	229						Silent	SNP	ENST00000240189.2	37	c.687G>A	CCDS149.1																																																																																				PASS	0.403	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		29	231	29	231	---	---	---	---
PADI1	29943	broad.mit.edu	37	1	17567205	17567205	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:17567205C>A	ENST00000375471.4	+	15	1800	c.1708C>A	c.(1708-1710)Cag>Aag	p.Q570K	PADI1_ENST00000460293.1_3'UTR|PADI1_ENST00000413717.2_Intron|PADI1_ENST00000537499.1_Missense_Mutation_p.Q127K|PADI1_ENST00000536552.1_Missense_Mutation_p.Q41K	NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	570					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)	p.Q570K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGACATTCCCCAGCTCTTCTT	0.587																																					Esophageal Squamous(80;414 1257 4580 27746 50832)	uc001bah.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1708-1710)CAG>AAG		peptidylarginine deiminase type I	L-Citrulline(DB00155)						123.0	118.0	120.0					1																	17567205		2203	4300	6503	SO:0001583	missense	29943				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	g.chr1:17567205C>A	AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.1708C>A	1.37:g.17567205C>A	ENSP00000364620:p.Gln570Lys					PADI1_uc010oco.1_Missense_Mutation_p.Q127K|PADI1_uc010ocp.1_Intron|PADI1_uc010ocq.1_Missense_Mutation_p.Q41K|PADI1_uc009vpb.1_Intron	p.Q570K	NM_013358	NP_037490	Q9ULC6	PADI1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	15	1800	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	570					A1L4K6|Q70SX6	Missense_Mutation	SNP	ENST00000375471.4	37	c.1708C>A	CCDS178.1	.	.	.	.	.	.	.	.	.	.	C	8.588	0.883904	0.17467	.	.	ENSG00000142623	ENST00000375471;ENST00000537499;ENST00000536552	T;T;T	0.24908	1.83;1.83;1.83	3.74	3.74	0.42951	Protein-arginine deiminase, C-terminal (1);	0.254572	0.35013	N	0.003507	T	0.48059	0.1479	M	0.78456	2.415	0.26050	N	0.981493	D	0.71674	0.998	D	0.76575	0.988	T	0.31420	-0.9944	10	0.49607	T	0.09	-25.8022	10.4977	0.44788	0.0:0.8018:0.1982:0.0	.	570	Q9ULC6	PADI1_HUMAN	K	570;127;41	ENSP00000364620:Q570K;ENSP00000444032:Q127K;ENSP00000444833:Q41K	ENSP00000364620:Q570K	Q	+	1	0	PADI1	17439792	0.947000	0.32204	0.969000	0.41365	0.017000	0.09413	2.064000	0.41432	1.942000	0.56320	0.555000	0.69702	CAG		PASS	0.587	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006621.1	NM_013358		24	130	24	130	---	---	---	---
UBR4	23352	broad.mit.edu	37	1	19491395	19491395	+	Missense_Mutation	SNP	C	C	T	rs369985401		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:19491395C>T	ENST00000375254.3	-	32	4436	c.4409G>A	c.(4408-4410)cGc>cAc	p.R1470H	UBR4_ENST00000375267.2_Missense_Mutation_p.R1470H|UBR4_ENST00000375217.2_Missense_Mutation_p.R1470H|UBR4_ENST00000375226.2_Missense_Mutation_p.R1470H	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1470					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1470H(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTAGTCATGCGGGTGAGCCA	0.557																																						uc001bbi.2																			1	Substitution - Missense(1)		lung(1)	kidney(10)|ovary(7)|breast(4)|pancreas(2)|skin(2)	25						c.(4408-4410)CGC>CAC		retinoblastoma-associated factor 600							80.0	80.0	80.0					1																	19491395		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19491395C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4409G>A	1.37:g.19491395C>T	ENSP00000364403:p.Arg1470His					UBR4_uc001bbm.1_Missense_Mutation_p.R681H	p.R1470H	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	32	4413	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1470					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4409G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971354	0.74246	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.21734	2.0;2.0;2.0;1.99	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	N	0.11064	0.09	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.08166	-1.0735	10	0.08381	T	0.77	.	19.5865	0.95492	0.0:1.0:0.0:0.0	.	1470	Q5T4S7	UBR4_HUMAN	H	1470;1470;1470;1470;180;686	ENSP00000364403:R1470H;ENSP00000364416:R1470H;ENSP00000364365:R1470H;ENSP00000364374:R1470H	ENSP00000364365:R1470H	R	-	2	0	UBR4	19363982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.250000	0.78287	2.723000	0.93209	0.655000	0.94253	CGC		PASS	0.557	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		4	128	4	128	---	---	---	---
PINK1	65018	broad.mit.edu	37	1	20976998	20976998	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:20976998G>A	ENST00000321556.4	+	8	1654	c.1560G>A	c.(1558-1560)aaG>aaA	p.K520K	PINK1-AS_ENST00000451424.1_RNA|PINK1_ENST00000492302.1_3'UTR	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	520					activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K520K(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGCCCTGAAGAATCTGAAGT	0.498																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	uc001bdm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1558-1560)AAG>AAA		PTEN induced putative kinase 1 precursor							73.0	65.0	68.0					1																	20976998		2203	4300	6503	SO:0001819	synonymous_variant	65018				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding	g.chr1:20976998G>A	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1560G>A	1.37:g.20976998G>A						PINK1_uc001bdn.2_Silent_p.K213K	p.K520K	NM_032409	NP_115785	Q9BXM7	PINK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	8	1654	+		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	520			Cytoplasmic (Potential).		Q8N6T9|Q8NBU3|Q96DE4	Silent	SNP	ENST00000321556.4	37	c.1560G>A	CCDS211.1																																																																																				PASS	0.498	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		27	33	27	33	---	---	---	---
ZNF436	80818	broad.mit.edu	37	1	23693646	23693646	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:23693646C>G	ENST00000314011.4	-	3	185	c.49G>C	c.(49-51)Gaa>Caa	p.E17Q	C1orf213_ENST00000454117.1_5'Flank|C1orf213_ENST00000518821.1_5'Flank|ZNF436_ENST00000374608.3_Missense_Mutation_p.E17Q|C1orf213_ENST00000437367.2_5'Flank|C1orf213_ENST00000335648.3_5'Flank	NM_001077195.1	NP_001070663.1	Q9C0F3	ZN436_HUMAN	zinc finger protein 436	17	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|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.E17Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GCCATATCTTCAAACGTCACA	0.423																																						uc001bgt.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(49-51)GAA>CAA		zinc finger protein 436							133.0	126.0	128.0					1																	23693646		2203	4300	6503	SO:0001583	missense	80818				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:23693646C>G	AB051497	CCDS233.1	1p36	2013-01-08			ENSG00000125945	ENSG00000125945		"""Zinc fingers, C2H2-type"", ""-"""	20814	protein-coding gene	gene with protein product		611703				11214970	Standard	NM_001077195		Approved	KIAA1710, Zfp46	uc001bgt.3	Q9C0F3	OTTHUMG00000003232	ENST00000314011.4:c.49G>C	1.37:g.23693646C>G	ENSP00000313582:p.Glu17Gln					ZNF436_uc001bgu.2_Missense_Mutation_p.E17Q|C1orf213_uc001bgv.2_5'Flank|C1orf213_uc001bgw.2_5'Flank	p.E17Q	NM_030634	NP_085137	Q9C0F3	ZN436_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;5.97e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000977)|KIRC - Kidney renal clear cell carcinoma(1967;0.00336)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	2	430	-		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	17			KRAB.		Q658I9	Missense_Mutation	SNP	ENST00000314011.4	37	c.49G>C	CCDS233.1	.	.	.	.	.	.	.	.	.	.	C	16.37	3.102881	0.56183	.	.	ENSG00000125945	ENST00000314011;ENST00000374609;ENST00000374608	T;T;T	0.02197	4.4;4.4;4.4	4.97	4.97	0.65823	Krueppel-associated box (4);	0.000000	0.49916	D	0.000124	T	0.03695	0.0105	L	0.43152	1.355	0.37242	D	0.906187	D	0.56521	0.976	P	0.44946	0.465	T	0.61959	-0.6955	10	0.25751	T	0.34	-15.3337	16.0792	0.80989	0.0:1.0:0.0:0.0	.	17	Q9C0F3	ZN436_HUMAN	Q	17	ENSP00000313582:E17Q;ENSP00000363737:E17Q;ENSP00000363736:E17Q	ENSP00000313582:E17Q	E	-	1	0	ZNF436	23566233	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.570000	0.67398	2.475000	0.83589	0.591000	0.81541	GAA		PASS	0.423	ZNF436-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008908.1	NM_030634		19	117	19	117	---	---	---	---
MDS2	259283	broad.mit.edu	37	1	23953516	23953516	+	5'Flank	SNP	T	T	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:23953516T>G	ENST00000374555.3	+	0	0				MDS2_ENST00000477916.1_3'UTR			Q8NDY4	MDS2_HUMAN	myelodysplastic syndrome 2 translocation associated							extracellular space (GO:0005615)				breast(1)|ovary(2)	3						TACACACATTTAAACACGCGT	0.542			T	ETV6	MDS																																	uc001bhi.3				Dom	yes		1	1p36	259283	T	myelodysplastic syndrome 2			L	ETV6		MDS		0				ovary(2)	2								Homo sapiens MDS2 gene.							7.0	6.0	6.0					1																	23953516		870	1977	2847	SO:0001631	upstream_gene_variant	259283							g.chr1:23953516T>G	AJ310434		1p36	2008-02-05			ENSG00000197880	ENSG00000197880			29633	protein-coding gene	gene with protein product		607305				12203785	Standard	NR_027042		Approved		uc001bhi.3	Q8NDY4	OTTHUMG00000002927		1.37:g.23953516T>G	Exception_encountered					MDS2_uc001bhj.3_RNA								3		+									RNA	SNP	ENST00000374555.3	37	c.806T>G																																																																																					PASS	0.542	MDS2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000008172.1	NM_148895		2	2	2	2	---	---	---	---
NIPAL3	57185	broad.mit.edu	37	1	24766703	24766703	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:24766703C>T	ENST00000374399.4	+	3	503	c.135C>T	c.(133-135)ctC>ctT	p.L45L	NIPAL3_ENST00000358028.4_Silent_p.L45L|NIPAL3_ENST00000003912.3_5'UTR|NIPAL3_ENST00000428131.1_Silent_p.L45L|NIPAL3_ENST00000339255.2_Silent_p.L45L	NM_020448.4	NP_065181.1	Q6P499	NPAL3_HUMAN	NIPA-like domain containing 3	45						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)	p.L45L(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(1)	14						TCGGGCACCTCGTGGTCAGCA	0.542																																						uc001bjh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(133-135)CTC>CTT		NIPA-like domain containing 3							112.0	98.0	103.0					1																	24766703		2203	4300	6503	SO:0001819	synonymous_variant	57185					integral to membrane		g.chr1:24766703C>T	BX640883	CCDS30631.1	1p36.12-p35.1	2009-03-24		2009-03-24	ENSG00000001461	ENSG00000001461			25233	protein-coding gene	gene with protein product				NPAL3		8619474, 9110174	Standard	NM_020448		Approved	DJ462O23.2	uc001bjh.3	Q6P499	OTTHUMG00000003299	ENST00000374399.4:c.135C>T	1.37:g.24766703C>T						NIPAL3_uc010oek.1_Silent_p.L45L|NIPAL3_uc001bjg.2_Silent_p.L45L|NIPAL3_uc009vrc.2_5'UTR	p.L45L	NM_020448	NP_065181	Q6P499	NPAL3_HUMAN			3	542	+			45			Helical; (Potential).		A2A298|Q6MZT9|Q9BVE6	Silent	SNP	ENST00000374399.4	37	c.135C>T	CCDS30631.1																																																																																				PASS	0.542	NIPAL3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276996.1	NM_020448		22	49	22	49	---	---	---	---
FAM76A	199870	broad.mit.edu	37	1	28081796	28081796	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:28081796G>C	ENST00000373954.6	+	7	792	c.690G>C	c.(688-690)aaG>aaC	p.K230N	FAM76A_ENST00000373949.1_Missense_Mutation_p.K201N|FAM76A_ENST00000010299.6_Missense_Mutation_p.K264N|FAM76A_ENST00000419687.2_Missense_Mutation_p.K150N|FAM76A_ENST00000530324.1_Missense_Mutation_p.K230N|FAM76A_ENST00000234549.7_Missense_Mutation_p.K235N	NM_001143912.1|NM_152660.2	NP_001137384.1|NP_689873.1	Q8TAV0	FA76A_HUMAN	family with sequence similarity 76, member A	230								p.K230N(1)		endometrium(4)|kidney(2)|large_intestine(1)|lung(2)	9		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGAAGAAGATGTTGCATC	0.438																																						uc001boq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(688-690)AAG>AAC		hypothetical protein LOC199870 isoform 3							113.0	106.0	108.0					1																	28081796		2203	4300	6503	SO:0001583	missense	199870							g.chr1:28081796G>C	AK098318	CCDS309.1, CCDS44092.1, CCDS44093.1, CCDS44094.1, CCDS44095.1	1p35.3	2008-02-05			ENSG00000009780	ENSG00000009780			28530	protein-coding gene	gene with protein product							Standard	NM_001143912		Approved	MGC34648	uc001bor.3	Q8TAV0	OTTHUMG00000003729	ENST00000373954.6:c.690G>C	1.37:g.28081796G>C	ENSP00000363065:p.Lys230Asn					FAM76A_uc009vtb.2_Missense_Mutation_p.K230N|FAM76A_uc001bor.2_Missense_Mutation_p.K264N|FAM76A_uc001bos.2_Missense_Mutation_p.K235N|FAM76A_uc001bot.2_Missense_Mutation_p.K201N|FAM76A_uc010ofm.1_Missense_Mutation_p.K150N	p.K230N	NM_152660	NP_689873	Q8TAV0	FA76A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00253)|KIRC - Kidney renal clear cell carcinoma(1967;0.00292)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)	7	792	+		Colorectal(325;0.000147)|all_lung(284;0.00181)|Lung NSC(340;0.00278)|Renal(390;0.00357)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0966)	230			Potential.		B4DWT3|O95565|O95566|Q8N7J5	Missense_Mutation	SNP	ENST00000373954.6	37	c.690G>C	CCDS309.1	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711528	0.68730	.	.	ENSG00000009780	ENST00000373954;ENST00000419687;ENST00000530324;ENST00000234549;ENST00000373949;ENST00000010299;ENST00000446647	T;T	0.37584	1.28;1.19	5.96	4.09	0.47781	.	0.000000	0.64402	D	0.000003	T	0.49287	0.1548	L	0.43152	1.355	0.39530	D	0.968651	P;P;P;D;D;D	0.71674	0.844;0.917;0.855;0.998;0.987;0.975	B;P;P;D;P;P	0.81914	0.349;0.772;0.772;0.995;0.81;0.81	T	0.51284	-0.8725	10	0.87932	D	0	-9.7202	10.5377	0.45013	0.1495:0.0:0.8505:0.0	.	150;230;201;235;264;230	B4DWT3;E9PQL1;Q8TAV0-2;Q8TAV0-4;Q8TAV0-3;Q8TAV0	.;.;.;.;.;FA76A_HUMAN	N	230;150;230;235;201;264;43	ENSP00000234549:K235N;ENSP00000010299:K264N	ENSP00000010299:K264N	K	+	3	2	FAM76A	27954383	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	1.424000	0.34848	0.843000	0.35070	0.655000	0.94253	AAG		PASS	0.438	FAM76A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000010514.3	NM_152660		27	79	27	79	---	---	---	---
COL16A1	1307	broad.mit.edu	37	1	32165448	32165448	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:32165448G>A	ENST00000373672.3	-	4	748	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	COL16A1_ENST00000271069.6_Missense_Mutation_p.R78C|COL16A1_ENST00000373668.3_Missense_Mutation_p.R78C	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	78	Laminin G-like.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.R78C(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCCCCCAGGCGCAGGATGAGA	0.592																																					Colon(143;498 1786 21362 25193 36625)	uc001btk.1																			1	Substitution - Missense(1)		lung(1)	ovary(8)	8						c.(232-234)CGC>TGC		alpha 1 type XVI collagen precursor							68.0	70.0	69.0					1																	32165448		1936	4141	6077	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32165448G>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.232C>T	1.37:g.32165448G>A	ENSP00000362776:p.Arg78Cys					COL16A1_uc001btj.1_5'Flank|COL16A1_uc001btl.3_Missense_Mutation_p.R78C	p.R78C	NM_001856	NP_001847	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	4	597	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	78			TSP N-terminal.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.232C>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	g	15.92	2.973848	0.53720	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000373668	T;T;T	0.41758	0.99;0.99;0.99	4.63	1.5	0.22942	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.64402	D	0.000011	T	0.60741	0.2292	M	0.72353	2.195	0.49687	D	0.99981	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.99	T	0.62562	-0.6828	10	0.87932	D	0	.	12.8503	0.57855	0.0:0.0:0.571:0.429	.	78;78	A6NCT7;Q07092	.;COGA1_HUMAN	C	78	ENSP00000362776:R78C;ENSP00000271069:R78C;ENSP00000362772:R78C	ENSP00000271069:R78C	R	-	1	0	COL16A1	31938035	1.000000	0.71417	0.998000	0.56505	0.834000	0.47266	1.603000	0.36794	0.089000	0.17243	0.556000	0.70494	CGC		PASS	0.592	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		15	89	15	89	---	---	---	---
KIAA0754	643314	broad.mit.edu	37	1	39878590	39878590	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:39878590G>A	ENST00000530275.1	+	1	2440	c.2245G>A	c.(2245-2247)Gtt>Att	p.V749I	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	749										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGACATCCTAGTTGCTTCAAT	0.547																																						uc009vvt.1																			0					0						c.(2653-2655)GTT>ATT		hypothetical protein LOC643314							47.0	49.0	48.0					1																	39878590		2004	4181	6185	SO:0001583	missense	643314							g.chr1:39878590G>A			1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.2245G>A	1.37:g.39878590G>A	ENSP00000431179:p.Val749Ile					MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	p.V885I	NM_015038	NP_055853	O94854	K0754_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		1	3415	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	749					E9PMC2|Q6ZSB2	Missense_Mutation	SNP	ENST00000530275.1	37	c.2653G>A		.	.	.	.	.	.	.	.	.	.	G	14.46	2.540643	0.45280	.	.	ENSG00000255103	ENST00000530275	T	0.26810	1.71	4.26	-0.0403	0.13872	.	.	.	.	.	T	0.14614	0.0353	N	0.24115	0.695	0.09310	N	1	B	0.24426	0.103	B	0.28011	0.085	T	0.30475	-0.9977	9	0.36615	T	0.2	.	3.4061	0.07341	0.09:0.1464:0.4642:0.2995	.	749	O94854	K0754_HUMAN	I	749	ENSP00000431179:V749I	ENSP00000431179:V749I	V	+	1	0	RP4-562N20.1	39651177	0.016000	0.18221	0.002000	0.10522	0.661000	0.39034	0.597000	0.24059	0.133000	0.18654	-0.268000	0.10319	GTT		PASS	0.547	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000392100.1	NM_015038		4	9	4	9	---	---	---	---
ZMPSTE24	10269	broad.mit.edu	37	1	40723960	40723960	+	Missense_Mutation	SNP	C	C	G	rs373684692		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:40723960C>G	ENST00000372759.3	+	1	182	c.17C>G	c.(16-18)tCg>tGg	p.S6W	ZMPSTE24_ENST00000479131.1_3'UTR|RP1-39G22.7_ENST00000567508.1_RNA	NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	6					CAAX-box protein processing (GO:0071586)|nuclear envelope organization (GO:0006998)|prenylated protein catabolic process (GO:0030327)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metalloexopeptidase activity (GO:0008235)	p.S6W(1)|p.S6L(1)		endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			ATGTGGGCATCGCTGGACGCT	0.632																																						uc001cfg.2																			2	Substitution - Missense(2)		lung(2)		0						c.(16-18)TCG>TGG		zinc metallopeptidase STE24							108.0	97.0	101.0					1																	40723960		2203	4300	6503	SO:0001583	missense	10269					endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity	g.chr1:40723960C>G	Y13834	CCDS449.1	1p34	2014-09-17	2012-12-10		ENSG00000084073	ENSG00000084073	3.4.24.84		12877	protein-coding gene	gene with protein product	"""Hutchinson-Gilford progeria syndrome"", ""CAAX prenyl protease 1 homolog"""	606480	"""zinc metalloproteinase (STE24 homolog, yeast)"", ""zinc metallopeptidase (STE24 homolog, yeast)"", ""zinc metallopeptidase STE24 homolog (S. cerevisiae)"""			10373325, 9700155, 16671095	Standard	NM_005857		Approved	FACE-1, Ste24p, STE24, HGPS, PRO1	uc001cfg.4	O75844	OTTHUMG00000005762	ENST00000372759.3:c.17C>G	1.37:g.40723960C>G	ENSP00000361845:p.Ser6Trp					uc001cff.2_5'Flank	p.S6W	NM_005857	NP_005848	O75844	FACE1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)		1	228	+	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	6					B3KQI7|D3DPU7|Q8NDZ8|Q9UBQ2	Missense_Mutation	SNP	ENST00000372759.3	37	c.17C>G	CCDS449.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.794979	0.70452	.	.	ENSG00000084073	ENST00000372759	T	0.01051	5.4	5.44	3.5	0.40072	.	0.169960	0.48286	D	0.000181	T	0.00967	0.0032	N	0.19112	0.55	0.43480	D	0.995707	P	0.46987	0.888	B	0.41813	0.367	T	0.71852	-0.4467	10	0.62326	D	0.03	-0.0695	4.3055	0.10944	0.1757:0.6072:0.0:0.217	.	6	O75844	FACE1_HUMAN	W	6	ENSP00000361845:S6W	ENSP00000361845:S6W	S	+	2	0	ZMPSTE24	40496547	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	0.587000	0.23909	1.306000	0.44926	0.655000	0.94253	TCG		PASS	0.632	ZMPSTE24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000015766.1			28	75	28	75	---	---	---	---
LEPRE1	64175	broad.mit.edu	37	1	43228017	43228017	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:43228017C>G	ENST00000296388.5	-	2	646	c.595G>C	c.(595-597)Gat>Cat	p.D199H	LEPRE1_ENST00000236040.4_Missense_Mutation_p.D199H|LEPRE1_ENST00000397054.3_Missense_Mutation_p.D199H			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	199					bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)	p.D199H(2)		large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GTCTCAAGATCCTTGAAGTCG	0.428																																						uc001chv.2																			2	Substitution - Missense(2)		lung(2)	ovary(3)|lung(1)	4						c.(595-597)GAT>CAT		leprecan 1 isoform 1	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)						161.0	154.0	156.0					1																	43228017		2203	4300	6503	SO:0001583	missense	64175				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	g.chr1:43228017C>G	AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.595G>C	1.37:g.43228017C>G	ENSP00000296388:p.Asp199His					LEPRE1_uc001chw.2_Missense_Mutation_p.D199H|LEPRE1_uc001chx.3_Missense_Mutation_p.D199H|LEPRE1_uc001chy.3_Missense_Mutation_p.D199H	p.D199H	NM_022356	NP_071751	Q32P28	P3H1_HUMAN			2	708	-	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	199					Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	Missense_Mutation	SNP	ENST00000296388.5	37	c.595G>C	CCDS472.2	.	.	.	.	.	.	.	.	.	.	C	23.0	4.362923	0.82353	.	.	ENSG00000117385	ENST00000397054;ENST00000236040;ENST00000296388;ENST00000540027;ENST00000372526	T;T;T;T	0.60920	1.57;1.57;1.57;0.15	5.76	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.76723	0.4027	M	0.83118	2.625	0.58432	D	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.80417	-0.1391	10	0.87932	D	0	-31.6454	12.7814	0.57479	0.0:0.9204:0.0:0.0796	.	199;199;64;199	Q32P28-2;Q32P28-3;B4DNM8;Q32P28	.;.;.;P3H1_HUMAN	H	199;199;199;64;156	ENSP00000380245:D199H;ENSP00000236040:D199H;ENSP00000296388:D199H;ENSP00000361604:D156H	ENSP00000236040:D199H	D	-	1	0	LEPRE1	43000604	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	7.398000	0.79919	1.438000	0.47492	0.563000	0.77884	GAT		PASS	0.428	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000019790.2	NM_022356		39	213	39	213	---	---	---	---
PTCH2	8643	broad.mit.edu	37	1	45292238	45292238	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:45292238C>A	ENST00000372192.3	-	18	3028	c.2898G>T	c.(2896-2898)ctG>ctT	p.L966L	PTCH2_ENST00000447098.2_Silent_p.L966L	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	966					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.L966L(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGCAGACGGCCAGCAGGAAGC	0.657									Basal Cell Nevus syndrome																													uc010olf.1																			1	Substitution - coding silent(1)		lung(1)	lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1)	18						c.(2896-2898)CTG>CTT		patched 2							30.0	31.0	31.0					1																	45292238		2203	4300	6503	SO:0001819	synonymous_variant	8643	Basal_Cell_Nevus_syndrome	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity	g.chr1:45292238C>A	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2898G>T	1.37:g.45292238C>A						PTCH2_uc010olg.1_Silent_p.L664L	p.L966L	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN			18	2910	-	Acute lymphoblastic leukemia(166;0.155)		966			Helical; (Potential).		O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	ENST00000372192.3	37	c.2898G>T	CCDS516.1																																																																																				PASS	0.657	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000023428.4	NM_003738		5	32	5	32	---	---	---	---
ZCCHC11	23318	broad.mit.edu	37	1	52962837	52962837	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:52962837C>T	ENST00000371544.3	-	5	1280	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E340K|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	340					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.E340K(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GAACGAAGCTCACTTTCTTCT	0.353																																						uc001ctx.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1018-1020)GAG>AAG		zinc finger, CCHC domain containing 11 isoform							67.0	65.0	66.0					1																	52962837		2203	4300	6503	SO:0001583	missense	23318				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|protein binding|RNA uridylyltransferase activity|zinc ion binding	g.chr1:52962837C>T	D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1018G>A	1.37:g.52962837C>T	ENSP00000360599:p.Glu340Lys					ZCCHC11_uc001cty.2_Missense_Mutation_p.E340K|ZCCHC11_uc001ctz.2_Missense_Mutation_p.E340K|ZCCHC11_uc009vze.1_Missense_Mutation_p.E340K|ZCCHC11_uc009vzf.1_Missense_Mutation_p.E99K|ZCCHC11_uc001cub.2_Missense_Mutation_p.E340K|ZCCHC11_uc001cuc.2_Intron	p.E340K	NM_015269	NP_056084	Q5TAX3	TUT4_HUMAN			5	1252	-			340					A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	c.1018G>A	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	C	18.40	3.614897	0.66672	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000528642;ENST00000484723	D;D;D;D	0.84589	-1.87;-1.87;-1.87;-1.87	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	D	0.90359	0.6983	M	0.64997	1.995	0.80722	D	1	D;B;D	0.71674	0.997;0.302;0.998	P;B;D	0.77004	0.877;0.302;0.989	D	0.87152	0.2209	10	0.15066	T	0.55	.	18.1145	0.89546	0.0:1.0:0.0:0.0	.	99;340;340	E9PKX1;Q5TAX3-2;Q5TAX3	.;.;TUT4_HUMAN	K	340;340;340;99	ENSP00000257177:E340K;ENSP00000360599:E340K;ENSP00000433486:E340K;ENSP00000435256:E99K	ENSP00000257177:E340K	E	-	1	0	ZCCHC11	52735425	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.421000	0.73353	2.378000	0.81104	0.467000	0.42956	GAG		PASS	0.353	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288		9	23	9	23	---	---	---	---
USP24	23358	broad.mit.edu	37	1	55544314	55544314	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:55544314G>C	ENST00000294383.6	-	61	7210	c.7211C>G	c.(7210-7212)gCt>gGt	p.A2404G	USP24_ENST00000407756.1_Missense_Mutation_p.A2244G	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2404					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.A2321G(1)|p.A2404G(1)		breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTCCCGCAAAGCAAACATTAC	0.438																																						uc001cyg.3																			2	Substitution - Missense(2)		lung(2)	ovary(6)|kidney(6)|breast(1)	13						c.(6730-6732)GCT>GGT		ubiquitin specific protease 24							61.0	61.0	61.0					1																	55544314		2001	4175	6176	SO:0001583	missense	23358				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr1:55544314G>C	AB028980	CCDS44154.1, CCDS44154.2	1p32.3	2008-04-11	2005-08-08		ENSG00000162402	ENSG00000162402		"""Ubiquitin-specific peptidases"""	12623	protein-coding gene	gene with protein product		610569	"""ubiquitin specific protease 24"""			12838346	Standard	NM_015306		Approved	KIAA1057	uc021onw.1	Q9UPU5	OTTHUMG00000008135	ENST00000294383.6:c.7211C>G	1.37:g.55544314G>C	ENSP00000294383:p.Ala2404Gly						p.A2244G	NM_015306	NP_056121	Q9UPU5	UBP24_HUMAN			58	6731	-			2404					Q6ZSY2|Q8N2Y4|Q9NXD1	Missense_Mutation	SNP	ENST00000294383.6	37	c.6731C>G	CCDS44154.2	.	.	.	.	.	.	.	.	.	.	G	17.34	3.364488	0.61513	.	.	ENSG00000162402	ENST00000294383;ENST00000407756	T;T	0.02498	4.27;4.28	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.12135	0.0295	L	0.54323	1.7	0.80722	D	1	D	0.58970	0.984	D	0.68192	0.956	T	0.15578	-1.0432	10	0.23891	T	0.37	.	19.8968	0.96969	0.0:0.0:1.0:0.0	.	2244	B7WPF4	.	G	2404;2244	ENSP00000294383:A2404G;ENSP00000385700:A2244G	ENSP00000294383:A2404G	A	-	2	0	USP24	55316902	1.000000	0.71417	0.962000	0.40283	0.446000	0.32137	9.334000	0.96470	2.691000	0.91804	0.655000	0.94253	GCT		PASS	0.438	USP24-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022275.2			4	22	4	22	---	---	---	---
CYP2J2	1573	broad.mit.edu	37	1	60373569	60373569	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:60373569C>T	ENST00000371204.3	-	6	935	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	298					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)	p.E298K(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	AGGTTTTCTTCATGGAAACTT	0.453																																						uc001czq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(892-894)GAA>AAA		cytochrome P450, family 2, subfamily J,							160.0	152.0	155.0					1																	60373569		2203	4300	6503	SO:0001583	missense	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60373569C>T	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.892G>A	1.37:g.60373569C>T	ENSP00000360247:p.Glu298Lys						p.E298K	NM_000775	NP_000766	P51589	CP2J2_HUMAN			6	897	-	all_cancers(7;0.000396)		298					B2RD33|Q8TF13	Missense_Mutation	SNP	ENST00000371204.3	37	c.892G>A	CCDS613.1	.	.	.	.	.	.	.	.	.	.	C	18.03	3.532756	0.64972	.	.	ENSG00000134716	ENST00000371204	T	0.68479	-0.33	5.61	5.61	0.85477	.	0.432182	0.27139	N	0.020745	T	0.73410	0.3583	M	0.77712	2.385	0.39550	D	0.968965	B	0.16603	0.018	B	0.39935	0.314	T	0.69811	-0.5044	10	0.28530	T	0.3	.	12.5139	0.56021	0.0:0.9198:0.0:0.0802	.	298	P51589	CP2J2_HUMAN	K	298	ENSP00000360247:E298K	ENSP00000360247:E298K	E	-	1	0	CYP2J2	60146157	0.912000	0.30974	1.000000	0.80357	0.857000	0.48899	1.584000	0.36589	2.636000	0.89361	0.655000	0.94253	GAA		PASS	0.453	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		28	75	28	75	---	---	---	---
CACHD1	57685	broad.mit.edu	37	1	65120429	65120429	+	Silent	SNP	A	A	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:65120429A>C	ENST00000371073.2	+	12	1725	c.1725A>C	c.(1723-1725)atA>atC	p.I575I	CACHD1_ENST00000290039.5_Silent_p.I524I|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	575					calcium ion transport (GO:0006816)	integral component of membrane (GO:0016021)		p.I524I(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						CTTGGCACATAAACAAGCTGA	0.458																																						uc001dbo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1570-1572)ATA>ATC		cache domain containing 1							196.0	180.0	185.0					1																	65120429		2203	4300	6503	SO:0001819	synonymous_variant	57685				calcium ion transport	integral to membrane		g.chr1:65120429A>C	AB046793	CCDS628.2	1p31.3	2008-02-05	2005-10-11	2005-10-11	ENSG00000158966	ENSG00000158966			29314	protein-coding gene	gene with protein product			"""von Willebrand factor type A and cache domain containing 1"""	VWCD1		10997877	Standard	NM_020925		Approved	KIAA1573	uc001dbo.1	Q5VU97	OTTHUMG00000009030	ENST00000371073.2:c.1725A>C	1.37:g.65120429A>C						CACHD1_uc001dbp.1_Silent_p.I279I|CACHD1_uc001dbq.1_Silent_p.I279I	p.I524I	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN			12	1677	+			575			Extracellular (Potential).		Q49AE9|Q658T4|Q7Z3P2|Q9H7W4|Q9H9W3|Q9HCJ9	Silent	SNP	ENST00000371073.2	37	c.1572A>C																																																																																					PASS	0.458	CACHD1-201	KNOWN	basic	protein_coding	protein_coding		NM_020925		35	148	35	148	---	---	---	---
RAVER2	55225	broad.mit.edu	37	1	65270690	65270690	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:65270690G>C	ENST00000294428.3	+	8	1391	c.1313G>C	c.(1312-1314)gGa>gCa	p.G438A	RAVER2_ENST00000371072.4_Missense_Mutation_p.G425A|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	438						cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G425A(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GGCTTACTTGGAGAGCCCCCA	0.418																																						uc001dbs.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(1273-1275)GGA>GCA		ribonucleoprotein, PTB-binding 2							76.0	75.0	75.0					1																	65270690		1833	4086	5919	SO:0001583	missense	55225					cytoplasm|nucleus	nucleotide binding|RNA binding	g.chr1:65270690G>C	AB046799	CCDS41345.1	1p31.3	2013-02-12			ENSG00000162437	ENSG00000162437		"""RNA binding motif (RRM) containing"""	25577	protein-coding gene	gene with protein product		609953				16051233	Standard	NM_018211		Approved	KIAA1579, FLJ10770	uc001dbs.2	Q9HCJ3	OTTHUMG00000009102	ENST00000294428.3:c.1313G>C	1.37:g.65270690G>C	ENSP00000294428:p.Gly438Ala					RAVER2_uc001dbt.1_Missense_Mutation_p.G317A|RAVER2_uc010opb.1_Intron	p.G425A	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN			8	1352	+			438					Q6P141|Q9NPV7	Missense_Mutation	SNP	ENST00000294428.3	37	c.1274G>C		.	.	.	.	.	.	.	.	.	.	G	21.3	4.134379	0.77662	.	.	ENSG00000162437	ENST00000371072;ENST00000294428	T;T	0.71341	-0.54;-0.56	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.79179	0.4402	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.78828	-0.2050	10	0.49607	T	0.09	-18.5664	17.0561	0.86534	0.0:0.0:1.0:0.0	.	425	Q9HCJ3-2	.	A	425;438	ENSP00000360112:G425A;ENSP00000294428:G438A	ENSP00000294428:G438A	G	+	2	0	RAVER2	65043278	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.883000	0.69721	2.617000	0.88574	0.643000	0.83706	GGA		PASS	0.418	RAVER2-201	KNOWN	basic	protein_coding	protein_coding		NM_018211		58	88	58	88	---	---	---	---
IFI44L	10964	broad.mit.edu	37	1	79107177	79107177	+	Missense_Mutation	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:79107177A>T	ENST00000370751.5	+	8	1386	c.1207A>T	c.(1207-1209)Aat>Tat	p.N403Y	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_Missense_Mutation_p.N145Y	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	403					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)		p.N364Y(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GATGGTTGGAAATTATGCTTC	0.373																																						uc010oro.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1207-1209)AAC>TAC		interferon-induced protein 44-like							88.0	86.0	86.0					1																	79107177		2203	4299	6502	SO:0001583	missense	10964					cytoplasm		g.chr1:79107177A>T	AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.1207A>T	1.37:g.79107177A>T	ENSP00000359787:p.Asn403Tyr					IFI44L_uc010orp.1_Missense_Mutation_p.N140Y|IFI44L_uc010orq.1_Missense_Mutation_p.N140Y	p.N403Y	NM_006820	NP_006811	Q53G44	IF44L_HUMAN			8	1386	+			403					Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	ENST00000370751.5	37	c.1207A>T	CCDS687.2	.	.	.	.	.	.	.	.	.	.	A	18.43	3.622429	0.66787	.	.	ENSG00000137959	ENST00000370751;ENST00000342282	T;T	0.57107	1.84;0.42	4.1	4.1	0.47936	.	0.000000	0.85682	D	0.000000	T	0.67050	0.2852	M	0.85197	2.74	0.45227	D	0.998237	D	0.89917	1.0	D	0.97110	1.0	T	0.73541	-0.3950	10	0.87932	D	0	-25.4421	11.305	0.49329	1.0:0.0:0.0:0.0	.	403	Q53G44	IF44L_HUMAN	Y	403;145	ENSP00000359787:N403Y;ENSP00000342833:N145Y	ENSP00000342833:N145Y	N	+	1	0	IFI44L	78879765	1.000000	0.71417	0.912000	0.35992	0.723000	0.41478	5.377000	0.66184	1.809000	0.52856	0.451000	0.29950	AAT		PASS	0.373	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026834.3	NM_006820		29	76	29	76	---	---	---	---
ZNF644	84146	broad.mit.edu	37	1	91405187	91405187	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:91405187G>C	ENST00000370440.1	-	3	1941	c.1724C>G	c.(1723-1725)tCt>tGt	p.S575C	ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.S575C			Q9H582	ZN644_HUMAN	zinc finger protein 644	575					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S575C(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TCCTACTACAGAGTCTTTCAT	0.398																																						uc001dnw.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(1723-1725)TCT>TGT		zinc finger protein 644 isoform 1							108.0	108.0	108.0					1																	91405187		2203	4299	6502	SO:0001583	missense	84146				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:91405187G>C	AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1724C>G	1.37:g.91405187G>C	ENSP00000359469:p.Ser575Cys					ZNF644_uc001dnv.2_Intron|ZNF644_uc001dnx.2_Intron|ZNF644_uc001dny.1_Missense_Mutation_p.S575C	p.S575C	NM_201269	NP_958357	Q9H582	ZN644_HUMAN		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)	3	1866	-		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)	575					A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	c.1724C>G	CCDS731.1	.	.	.	.	.	.	.	.	.	.	G	7.826	0.718781	0.15372	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00596	6.32;6.32	6.02	5.12	0.69794	.	0.363218	0.29900	N	0.010909	T	0.00412	0.0013	L	0.39898	1.24	0.38387	D	0.94529	P	0.38167	0.621	B	0.39419	0.299	T	0.75536	-0.3283	10	0.66056	D	0.02	-2.6943	15.2602	0.73615	0.0668:0.0:0.9332:0.0	.	575	Q9H582	ZN644_HUMAN	C	575;575;147	ENSP00000359469:S575C;ENSP00000337008:S575C	ENSP00000337008:S575C	S	-	2	0	ZNF644	91177775	1.000000	0.71417	0.963000	0.40424	0.430000	0.31655	6.778000	0.75043	1.556000	0.49512	0.650000	0.86243	TCT		PASS	0.398	ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186		33	93	33	93	---	---	---	---
PLPPR4	9890	broad.mit.edu	37	1	99771996	99771996	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:99771996C>A	ENST00000370185.3	+	7	2219	c.1722C>A	c.(1720-1722)ccC>ccA	p.P574P	LPPR4_ENST00000370184.1_Silent_p.P416P|LPPR4_ENST00000457765.1_Silent_p.P516P	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		574					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)	p.P574P(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		ACAGCCAGCCCCGAATCATGC	0.547																																						uc001dse.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(1720-1722)CCC>CCA		plasticity related gene 1							58.0	59.0	59.0					1																	99771996		2203	4300	6503	SO:0001819	synonymous_variant	9890						phosphatidate phosphatase activity	g.chr1:99771996C>A																												ENST00000370185.3:c.1722C>A	1.37:g.99771996C>A						LPPR4_uc010oue.1_Silent_p.P516P	p.P574P	NM_014839	NP_055654	Q7Z2D5	LPPR4_HUMAN		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)	7	1828	+		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)	574					E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Silent	SNP	ENST00000370185.3	37	c.1722C>A	CCDS757.1																																																																																				PASS	0.547	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029670.2			25	54	25	54	---	---	---	---
COL11A1	1301	broad.mit.edu	37	1	103463882	103463882	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:103463882C>G	ENST00000370096.3	-	25	2492	c.2180G>C	c.(2179-2181)gGt>gCt	p.G727A	COL11A1_ENST00000358392.2_Missense_Mutation_p.G739A|COL11A1_ENST00000512756.1_Missense_Mutation_p.G611A|COL11A1_ENST00000353414.4_Missense_Mutation_p.G688A|COL11A1_ENST00000461720.1_5'Flank	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	727	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)	p.G727A(1)|p.G739A(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCCATCAGCACCAGGAAGTCC	0.299																																						uc001dul.2																			2	Substitution - Missense(2)		lung(2)	ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1)	12						c.(2179-2181)GGT>GCT		alpha 1 type XI collagen isoform A							39.0	41.0	40.0					1																	103463882		2202	4299	6501	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103463882C>G	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2180G>C	1.37:g.103463882C>G	ENSP00000359114:p.Gly727Ala					COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Missense_Mutation_p.G739A|COL11A1_uc001dun.2_Missense_Mutation_p.G688A|COL11A1_uc009weh.2_Missense_Mutation_p.G611A	p.G727A	NM_001854	NP_001845	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	25	2498	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	727			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2180G>C	CCDS778.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487414	0.84854	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000512756	D;D;D;D	0.98747	-5.11;-5.11;-5.11;-5.11	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	D	0.99483	0.9816	H	0.95294	3.65	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.87578	0.987;0.998;0.998;0.995	D	0.98450	1.0591	10	0.87932	D	0	.	19.2934	0.94112	0.0:1.0:0.0:0.0	.	611;688;739;727	E9PCU0;P12107-3;P12107-2;P12107	.;.;.;COBA1_HUMAN	A	727;739;688;611	ENSP00000359114:G727A;ENSP00000351163:G739A;ENSP00000302551:G688A;ENSP00000426533:G611A	ENSP00000302551:G688A	G	-	2	0	COL11A1	103236470	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.204000	0.77872	2.564000	0.86499	0.467000	0.42956	GGT		PASS	0.299	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		15	24	15	24	---	---	---	---
NTNG1	22854	broad.mit.edu	37	1	107937858	107937858	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:107937858C>G	ENST00000370068.1	+	4	1816	c.970C>G	c.(970-972)Cca>Gca	p.P324A	NTNG1_ENST00000370065.1_Missense_Mutation_p.P324A|NTNG1_ENST00000370066.1_Missense_Mutation_p.P324A|NTNG1_ENST00000542803.1_Missense_Mutation_p.P324A|NTNG1_ENST00000370071.2_Missense_Mutation_p.P324A|NTNG1_ENST00000370061.3_Missense_Mutation_p.P324A|NTNG1_ENST00000370072.3_Missense_Mutation_p.P324A|NTNG1_ENST00000370074.4_Missense_Mutation_p.P324A|NTNG1_ENST00000370067.1_Missense_Mutation_p.P324A|NTNG1_ENST00000370070.2_Missense_Mutation_p.P324A|NTNG1_ENST00000370073.2_Missense_Mutation_p.P324A			Q9Y2I2	NTNG1_HUMAN	netrin G1	324	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)		p.P324A(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		CACTACAGGTCCAGACTGTGG	0.493																																						uc001dvh.3																			3	Substitution - Missense(3)		lung(3)	large_intestine(2)|ovary(2)|skin(2)	6						c.(970-972)CCA>GCA		netrin G1 isoform 1							198.0	188.0	191.0					1																	107937858		2203	4300	6503	SO:0001583	missense	22854				axonogenesis	anchored to plasma membrane	protein binding	g.chr1:107937858C>G	AB023193	CCDS30785.1, CCDS44179.1, CCDS44180.1	1p13.2-p13.1	2013-03-01			ENSG00000162631	ENSG00000162631		"""Netrins"""	23319	protein-coding gene	gene with protein product	"""netrin G1f"", ""Netrin-G1"""	608818				10964959	Standard	NM_001113226		Approved	KIAA0976, Lmnt1	uc001dvh.4	Q9Y2I2	OTTHUMG00000010965	ENST00000370068.1:c.970C>G	1.37:g.107937858C>G	ENSP00000359085:p.Pro324Ala					NTNG1_uc001dvf.3_Missense_Mutation_p.P324A|NTNG1_uc010out.1_Missense_Mutation_p.P324A|NTNG1_uc001dvc.3_Missense_Mutation_p.P324A|NTNG1_uc001dvi.2_5'UTR|NTNG1_uc001dve.2_RNA|NTNG1_uc009wek.2_RNA|NTNG1_uc001dvg.2_RNA|NTNG1_uc009wem.2_5'UTR|NTNG1_uc001dvd.1_Missense_Mutation_p.P324A	p.P324A	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)	4	1688	+		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)	324			Laminin EGF-like 1.		Q5VU86|Q5VU87|Q5VU89|Q5VU90|Q5VU91|Q7Z2Y3|Q8N633	Missense_Mutation	SNP	ENST00000370068.1	37	c.970C>G	CCDS44180.1	.	.	.	.	.	.	.	.	.	.	C	17.85	3.490011	0.64074	.	.	ENSG00000162631	ENST00000370076;ENST00000370073;ENST00000370071;ENST00000542803;ENST00000370061;ENST00000370072;ENST00000370070;ENST00000535584;ENST00000370064;ENST00000370062;ENST00000370074;ENST00000370068;ENST00000294649;ENST00000370067;ENST00000370066;ENST00000370065	T;T;T;T;T;T;T;T;T;T;T	0.61040	0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14;0.14	5.8	5.8	0.92144	EGF-like, laminin (3);EGF-like region, conserved site (1);	0.000000	0.64402	D	0.000011	T	0.38957	0.1060	L	0.37507	1.11	0.80722	D	1	B;B;B;B;B	0.20052	0.041;0.018;0.012;0.003;0.01	B;B;B;B;B	0.17979	0.02;0.006;0.007;0.002;0.006	T	0.15378	-1.0439	10	0.35671	T	0.21	.	20.0637	0.97700	0.0:1.0:0.0:0.0	.	324;324;324;324;324	B4DKF0;Q9Y2I2;Q9Y2I2-4;Q9Y2I2-2;Q9Y2I2-1	.;NTNG1_HUMAN;.;.;.	A	324;324;324;324;324;324;324;324;85;85;324;324;324;324;324;324	ENSP00000359090:P324A;ENSP00000359088:P324A;ENSP00000440561:P324A;ENSP00000359078:P324A;ENSP00000359089:P324A;ENSP00000359087:P324A;ENSP00000359091:P324A;ENSP00000359085:P324A;ENSP00000359084:P324A;ENSP00000359083:P324A;ENSP00000359082:P324A	ENSP00000294649:P324A	P	+	1	0	NTNG1	107739381	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.079000	0.71291	2.751000	0.94390	0.650000	0.86243	CCA		PASS	0.493	NTNG1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000030340.1	NM_014917		65	101	65	101	---	---	---	---
AMPD1	270	broad.mit.edu	37	1	115218197	115218197	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:115218197C>G	ENST00000520113.2	-	12	1747	c.1732G>C	c.(1732-1734)Gcc>Ccc	p.A578P	AMPD1_ENST00000369538.3_Missense_Mutation_p.A574P|AMPD1_ENST00000353928.6_Missense_Mutation_p.A545P			P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	578					IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.A545P(1)|p.A578P(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ATGTAGTAGGCATAGTAAGTG	0.473																																						uc001efe.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|skin(1)	4						c.(1633-1635)GCC>CCC		adenosine monophosphate deaminase 1 (isoform M)	Adenosine monophosphate(DB00131)						234.0	215.0	221.0					1																	115218197		2203	4300	6503	SO:0001583	missense	270				purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding	g.chr1:115218197C>G	M60092	CCDS876.1, CCDS876.2, CCDS53349.1	1p13	2010-02-10	2010-02-10		ENSG00000116748	ENSG00000116748	3.5.4.6		468	protein-coding gene	gene with protein product	"""AMPD isoform M"", ""skeletal muscle AMPD"""	102770	"""adenosine monophosphate deaminase 1 (isoform M)"""			1400401	Standard	NM_001172626		Approved	MAD, MADA	uc001efe.2	P23109	OTTHUMG00000011892	ENST00000520113.2:c.1732G>C	1.37:g.115218197C>G	ENSP00000430075:p.Ala578Pro					AMPD1_uc001eff.1_Missense_Mutation_p.A541P	p.A545P	NM_000036	NP_000027	P23109	AMPD1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1717	-	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	545					A8K5N4|B2RAM1|F2Z3B3|Q5TF00|Q5TF02	Missense_Mutation	SNP	ENST00000520113.2	37	c.1633G>C	CCDS876.2	.	.	.	.	.	.	.	.	.	.	C	16.42	3.118820	0.56505	.	.	ENSG00000116748	ENST00000520113;ENST00000369538;ENST00000353928	D;D;D	0.82619	-1.63;-1.63;-1.63	5.68	0.718	0.18202	Adenosine/AMP deaminase (1);	0.265652	0.43416	D	0.000576	T	0.67249	0.2873	L	0.45352	1.415	0.28639	N	0.907269	P;B	0.39071	0.658;0.1	P;B	0.46076	0.503;0.218	T	0.63198	-0.6691	10	0.72032	D	0.01	-3.2368	7.1078	0.25372	0.0:0.4403:0.1119:0.4478	.	574;545	Q5TF02;P23109	.;AMPD1_HUMAN	P	578;574;545	ENSP00000430075:A578P;ENSP00000358551:A574P;ENSP00000316520:A545P	ENSP00000316520:A545P	A	-	1	0	AMPD1	115019720	0.006000	0.16342	0.934000	0.37439	0.990000	0.78478	-0.297000	0.08276	-0.104000	0.12154	0.561000	0.74099	GCC		PASS	0.473	AMPD1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000032860.4			5	175	5	175	---	---	---	---
CD101	9398	broad.mit.edu	37	1	117561160	117561160	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:117561160G>A	ENST00000256652.4	+	6	2053	c.1995G>A	c.(1993-1995)ctG>ctA	p.L665L	CD101_ENST00000369470.1_Silent_p.L665L	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	665	Ig-like C2-type 6.				cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)	p.L665L(1)		NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCACCCACTGAGGATAGCCG	0.423																																						uc010oxb.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(1993-1995)CTG>CTA		immunoglobulin superfamily, member 2 precursor							50.0	53.0	52.0					1																	117561160		2203	4300	6503	SO:0001819	synonymous_variant	9398				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides	g.chr1:117561160G>A	Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.1995G>A	1.37:g.117561160G>A						CD101_uc009whd.2_Silent_p.L665L|CD101_uc010oxc.1_Silent_p.L665L|CD101_uc010oxd.1_Silent_p.L603L	p.L665L	NM_004258	NP_004249	Q93033	IGSF2_HUMAN			6	2053	+			665			Ig-like C2-type 6.|Extracellular (Potential).		Q15856	Silent	SNP	ENST00000256652.4	37	c.1995G>A	CCDS891.1																																																																																				PASS	0.423	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033274.1	NM_004258		29	57	29	57	---	---	---	---
MAN1A2	10905	broad.mit.edu	37	1	117944986	117944986	+	Missense_Mutation	SNP	A	A	G	rs372754010		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:117944986A>G	ENST00000356554.3	+	2	1216	c.481A>G	c.(481-483)Att>Gtt	p.I161V	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	161					cellular protein metabolic process (GO:0044267)|lung alveolus development (GO:0048286)|N-glycan processing (GO:0006491)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)	p.I161V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		ACCAGTCCCTATTCCCAACCT	0.383																																					Ovarian(33;199 881 8228 13687 31538)	uc001ehd.1																			1	Substitution - Missense(1)		lung(1)		0						c.(481-483)ATT>GTT		mannosidase, alpha, class 1A, member 2		A	VAL/ILE	1,4405	2.1+/-5.4	0,1,2202	72.0	76.0	75.0		481	-4.0	0.8	1		75	0,8598		0,0,4299	no	missense	MAN1A2	NM_006699.3	29	0,1,6501	GG,GA,AA		0.0,0.0227,0.0077	benign	161/642	117944986	1,13003	2203	4299	6502	SO:0001583	missense	10905				N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	g.chr1:117944986A>G	AF027156	CCDS895.1	1p13	2008-02-05			ENSG00000198162	ENSG00000198162			6822	protein-coding gene	gene with protein product		604345				9592125	Standard	NM_006699		Approved	MAN1B	uc001ehd.1	O60476	OTTHUMG00000012149	ENST00000356554.3:c.481A>G	1.37:g.117944986A>G	ENSP00000348959:p.Ile161Val					MAN1A2_uc009whg.1_Intron	p.I161V	NM_006699	NP_006690	O60476	MA1A2_HUMAN		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)	2	1202	+	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)	161			Lumenal (Potential).		Q9H510	Missense_Mutation	SNP	ENST00000356554.3	37	c.481A>G	CCDS895.1	.	.	.	.	.	.	.	.	.	.	A	7.812	0.715939	0.15306	2.27E-4	0.0	ENSG00000198162	ENST00000356554	D	0.81996	-1.56	5.76	-4.02	0.04034	.	0.608708	0.17119	N	0.186340	T	0.23886	0.0578	N	0.01352	-0.895	0.26913	N	0.966845	B	0.02656	0.0	B	0.01281	0.0	T	0.48747	-0.9008	10	0.11794	T	0.64	-5.6541	3.9222	0.09248	0.2469:0.1406:0.4779:0.1347	.	161	O60476	MA1A2_HUMAN	V	161	ENSP00000348959:I161V	ENSP00000348959:I161V	I	+	1	0	MAN1A2	117746509	0.830000	0.29337	0.845000	0.33349	0.947000	0.59692	-0.004000	0.12878	-0.250000	0.09555	-0.274000	0.10170	ATT		PASS	0.383	MAN1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033593.1	NM_006699		21	34	21	34	---	---	---	---
PLEKHO1	51177	broad.mit.edu	37	1	150131509	150131509	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:150131509C>T	ENST00000369124.4	+	6	1299	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	PLEKHO1_ENST00000369126.1_Missense_Mutation_p.R158W|PLEKHO1_ENST00000025469.6_Missense_Mutation_p.R307W	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	341	Negative regulator of AP-1 activity.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R341W(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGACCCCCCTCGGTCTCCGCC	0.602																																						uc001ett.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1021-1023)CGG>TGG		pleckstrin homology domain containing, family O							50.0	55.0	53.0					1																	150131509		2203	4300	6503	SO:0001583	missense	51177					cytoplasm|nucleus|plasma membrane		g.chr1:150131509C>T	AF073836	CCDS945.1	1q21.2	2013-01-10			ENSG00000023902	ENSG00000023902		"""Pleckstrin homology (PH) domain containing"""	24310	protein-coding gene	gene with protein product		608335				10799509	Standard	NM_016274		Approved	CKIP-1, OC120	uc001ett.3	Q53GL0	OTTHUMG00000012510	ENST00000369124.4:c.1021C>T	1.37:g.150131509C>T	ENSP00000358120:p.Arg341Trp					PLEKHO1_uc001etr.2_Missense_Mutation_p.R169W|PLEKHO1_uc001ets.2_Missense_Mutation_p.R158W|PLEKHO1_uc001etu.2_Missense_Mutation_p.R169W	p.R341W	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		6	1299	+	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		341			Negative regulator of AP-1 activity.		Q336K5|Q8IZ51|Q9NRV3|Q9UL48	Missense_Mutation	SNP	ENST00000369124.4	37	c.1021C>T	CCDS945.1	.	.	.	.	.	.	.	.	.	.	C	9.226	1.034529	0.19590	.	.	ENSG00000023902	ENST00000369126;ENST00000025469;ENST00000369124;ENST00000441340	T;T	0.46063	0.88;0.88	5.24	1.2	0.21068	.	1.334780	0.04874	N	0.446350	T	0.10465	0.0256	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28364	-1.0046	10	0.52906	T	0.07	-4.1754	6.344	0.21339	0.0:0.2924:0.4834:0.2242	.	341	Q53GL0	PKHO1_HUMAN	W	158;307;341;221	ENSP00000025469:R307W;ENSP00000358120:R341W	ENSP00000025469:R307W	R	+	1	2	PLEKHO1	148398133	0.100000	0.21855	0.208000	0.23602	0.706000	0.40770	0.117000	0.15583	0.071000	0.16664	-0.150000	0.13652	CGG		PASS	0.602	PLEKHO1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034962.1	NM_016274		26	62	26	62	---	---	---	---
APH1A	51107	broad.mit.edu	37	1	150239862	150239862	+	Silent	SNP	G	G	A	rs201257450		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:150239862G>A	ENST00000369109.3	-	4	563	c.375C>T	c.(373-375)ttC>ttT	p.F125F	C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000414276.2_Silent_p.F55F|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000360244.4_Silent_p.F125F	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	125					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.F125F(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGATGATACCGAAGGAGAGAC	0.493																																						uc001ety.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|lung(1)	2						c.(373-375)TTC>TTT		anterior pharynx defective 1 homolog A isoform							87.0	89.0	88.0					1																	150239862		1978	4176	6154	SO:0001819	synonymous_variant	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150239862G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.375C>T	1.37:g.150239862G>A						APH1A_uc010pbx.1_Silent_p.F55F|APH1A_uc001etz.1_Silent_p.F125F|APH1A_uc001eua.1_Silent_p.F125F|APH1A_uc010pby.1_Silent_p.F68F|APH1A_uc001eub.1_Silent_p.F9F|APH1A_uc010pbz.1_Silent_p.F9F	p.F125F	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	697	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		125			Helical; Name=4; (Potential).		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Silent	SNP	ENST00000369109.3	37	c.375C>T	CCDS41390.1																																																																																				PASS	0.493	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		19	62	19	62	---	---	---	---
TCHH	7062	broad.mit.edu	37	1	152081138	152081138	+	Missense_Mutation	SNP	C	C	G	rs189687085	byFrequency	TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:152081138C>G	ENST00000368804.1	-	2	4554	c.4555G>C	c.(4555-4557)Gag>Cag	p.E1519Q		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1519	23 X 26 AA approximate tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.E1519Q(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTTCCTCCTCGAGGAATTTT	0.587																																						uc001ezp.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|kidney(1)|central_nervous_system(1)	5						c.(4555-4557)GAG>CAG		trichohyalin							53.0	55.0	54.0					1																	152081138		1885	4114	5999	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152081138C>G	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.4555G>C	1.37:g.152081138C>G	ENSP00000357794:p.Glu1519Gln					TCHH_uc009wne.1_Missense_Mutation_p.E1519Q	p.E1519Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	4555	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1519			23 X 26 AA approximate tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.4555G>C	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	-	1.898	-0.453708	0.04540	.	.	ENSG00000159450	ENST00000368804	T	0.05382	3.45	0.113	0.113	0.14631	.	.	.	.	.	T	0.03739	0.0106	M	0.66939	2.045	0.09310	N	1	P	0.44281	0.831	P	0.47786	0.557	T	0.38802	-0.9644	8	0.23302	T	0.38	.	.	.	.	.	1519	Q07283	TRHY_HUMAN	Q	1519	ENSP00000357794:E1519Q	ENSP00000357794:E1519Q	E	-	1	0	TCHH	150347762	0.000000	0.05858	0.001000	0.08648	0.038000	0.13279	-0.405000	0.07196	0.183000	0.20059	0.186000	0.17326	GAG		PASS	0.587	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		39	99	39	99	---	---	---	---
FLG	2312	broad.mit.edu	37	1	152282605	152282605	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:152282605G>T	ENST00000368799.1	-	3	4792	c.4757C>A	c.(4756-4758)aCa>aAa	p.T1586K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1586	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.T1586K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGCCTGCTTGTCTTGGACCC	0.592									Ichthyosis																													uc001ezu.1																			1	Substitution - Missense(1)		lung(1)	ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(4756-4758)ACA>AAA		filaggrin							156.0	167.0	163.0					1																	152282605		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152282605G>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.4757C>A	1.37:g.152282605G>T	ENSP00000357789:p.Thr1586Lys						p.T1586K	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4793	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1586			Ser-rich.|Filaggrin 9.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.4757C>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	8.959	0.969992	0.18659	.	.	ENSG00000143631	ENST00000368799	T	0.04360	3.64	1.83	-0.38	0.12490	.	.	.	.	.	T	0.01124	0.0037	M	0.72479	2.2	0.09310	N	1	B	0.28636	0.218	B	0.23275	0.045	T	0.49934	-0.8886	9	0.05959	T	0.93	.	2.4835	0.04593	0.1883:0.0:0.4971:0.3146	.	1586	P20930	FILA_HUMAN	K	1586	ENSP00000357789:T1586K	ENSP00000357789:T1586K	T	-	2	0	FLG	150549229	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-1.193000	0.03049	-0.081000	0.12662	0.485000	0.47835	ACA		PASS	0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		90	214	90	214	---	---	---	---
IVL	3713	broad.mit.edu	37	1	152882380	152882380	+	Missense_Mutation	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:152882380A>T	ENST00000368764.3	+	2	171	c.107A>T	c.(106-108)cAg>cTg	p.Q36L	IVL_ENST00000392667.2_5'UTR			P07476	INVO_HUMAN	involucrin	36					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.Q36L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAAATGAAACAGCCAACTCCA	0.557																																						uc001fau.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(106-108)CAG>CTG		involucrin							100.0	89.0	93.0					1																	152882380		2203	4300	6503	SO:0001583	missense	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152882380A>T	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.107A>T	1.37:g.152882380A>T	ENSP00000357753:p.Gln36Leu						p.Q36L	NM_005547	NP_005538	P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	153	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		36					Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	c.107A>T	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	A	3.636	-0.074452	0.07184	.	.	ENSG00000163207	ENST00000368764	T	0.24908	1.83	4.77	2.4	0.29515	Involucrin, N-terminal (1);	.	.	.	.	T	0.13543	0.0328	M	0.68593	2.085	0.19775	N	0.999953	P	0.39022	0.655	P	0.47744	0.556	T	0.25950	-1.0117	9	0.06099	T	0.92	-8.7885	9.1855	0.37168	0.6405:0.3595:0.0:0.0	.	36	P07476	INVO_HUMAN	L	36	ENSP00000357753:Q36L	ENSP00000357753:Q36L	Q	+	2	0	IVL	151149004	0.129000	0.22400	0.007000	0.13788	0.016000	0.09150	1.688000	0.37690	0.397000	0.25310	-1.495000	0.00966	CAG		PASS	0.557	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		33	72	33	72	---	---	---	---
S100A7	6278	broad.mit.edu	37	1	153431478	153431478	+	Silent	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:153431478A>T	ENST00000368723.3	-	2	122	c.12T>A	c.(10-12)acT>acA	p.T4T	S100A7_ENST00000368722.1_Silent_p.T4T	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	4					angiogenesis (GO:0001525)|defense response to Gram-negative bacterium (GO:0050829)|epidermis development (GO:0008544)|innate immune response (GO:0045087)|keratinocyte differentiation (GO:0030216)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of granulocyte chemotaxis (GO:0071624)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of T cell chemotaxis (GO:0010820)|response to lipopolysaccharide (GO:0032496)|response to reactive oxygen species (GO:0000302)|sequestering of metal ion (GO:0051238)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|RAGE receptor binding (GO:0050786)|zinc ion binding (GO:0008270)	p.T4T(1)		breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTCAGCTTGAGTGTTGCTCA	0.418																																						uc001fbv.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(10-12)ACT>ACA		S100 calcium binding protein A7							233.0	204.0	214.0					1																	153431478		2203	4297	6500	SO:0001819	synonymous_variant	6278				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding	g.chr1:153431478A>T	BC034687	CCDS1039.1	1q21	2013-01-10	2006-09-11		ENSG00000143556	ENSG00000143556		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10497	protein-coding gene	gene with protein product		600353	"""S100 calcium-binding protein A7 (psoriasin 1)"", ""S100 calcium binding protein A7 (psoriasin 1)"""	PSOR1		1940442	Standard	NM_002963		Approved	S100A7c	uc001fbv.1	P31151	OTTHUMG00000013123	ENST00000368723.3:c.12T>A	1.37:g.153431478A>T							p.T4T	NM_002963	NP_002954	P31151	S10A7_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	83	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		4					Q5SY67|Q6FGE3|Q9H1E2	Silent	SNP	ENST00000368723.3	37	c.12T>A	CCDS1039.1																																																																																				PASS	0.418	S100A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036789.1	NM_002963		46	129	46	129	---	---	---	---
NUP210L	91181	broad.mit.edu	37	1	153994764	153994764	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:153994764C>G	ENST00000368559.3	-	32	4425	c.4354G>C	c.(4354-4356)Gct>Cct	p.A1452P	NUP210L_ENST00000368553.1_Missense_Mutation_p.A385P|NUP210L_ENST00000271854.3_Missense_Mutation_p.A1452P	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1452					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)		p.A1452P(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTGTTCACAGCCTGGGCCATG	0.453																																						uc001fdw.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(4)|large_intestine(1)|central_nervous_system(1)	11						c.(4354-4356)GCT>CCT		nucleoporin 210kDa-like isoform 1							107.0	105.0	106.0					1																	153994764		1963	4169	6132	SO:0001583	missense	91181					integral to membrane		g.chr1:153994764C>G	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.4354G>C	1.37:g.153994764C>G	ENSP00000357547:p.Ala1452Pro					NUP210L_uc009woq.2_Missense_Mutation_p.A361P|NUP210L_uc010peh.1_Missense_Mutation_p.A1452P	p.A1452P	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		32	4426	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1452					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Missense_Mutation	SNP	ENST00000368559.3	37	c.4354G>C	CCDS41399.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.105814	0.77096	.	.	ENSG00000143552	ENST00000368559;ENST00000368553;ENST00000271854	T;T;T	0.26518	3.31;1.73;3.06	5.44	5.44	0.79542	.	0.000000	0.64402	D	0.000011	T	0.41026	0.1141	L	0.59436	1.845	0.42829	D	0.994017	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.09378	-1.0677	10	0.54805	T	0.06	-7.9253	17.2047	0.86914	0.0:1.0:0.0:0.0	.	1452;1452	E7EP56;Q5VU65	.;P210L_HUMAN	P	1452;385;1452	ENSP00000357547:A1452P;ENSP00000357541:A385P;ENSP00000271854:A1452P	ENSP00000271854:A1452P	A	-	1	0	NUP210L	152261388	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.169000	0.58223	2.835000	0.97688	0.591000	0.81541	GCT		PASS	0.453	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		24	106	24	106	---	---	---	---
DCST2	127579	broad.mit.edu	37	1	155003036	155003037	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:155003036_155003037GG>AA	ENST00000368424.3	-	6	948_949	c.890_891CC>TT	c.(889-891)gCC>gTT	p.A297V	DCST2_ENST00000295536.5_Missense_Mutation_p.A297V	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	297						integral component of membrane (GO:0016021)		p.A297V(2)|p.A297A(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGCTCCGAGAGGCATTGAGATC	0.599																																						uc001fgm.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|central_nervous_system(1)	3						c.(889-891)GCC>GCT|c.(889-891)GCC>GTC		DC-STAMP domain containing 2																																				SO:0001583	missense	127579					integral to membrane		g.chr1:155003036G>A|g.chr1:155003037G>A	AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.890_891delinsAA	1.37:g.155003036_155003037delinsAA	ENSP00000357409:p.Ala297Val					DCST2_uc009wpb.2_RNA	p.A297A|p.A297V	NM_144622	NP_653223	Q5T1A1	DCST2_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		6	971|970	-	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		297			Extracellular (Potential).		Q2M2R2|Q8N810|Q96M03	Silent|Missense_Mutation	SNP	ENST00000368424.3	37	c.891C>T|c.890C>T	CCDS1082.2																																																																																				PASS	0.599	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622		10	49	10	49	---	---	---	---
ASH1L	55870	broad.mit.edu	37	1	155385650	155385650	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:155385650C>G	ENST00000368346.3	-	6	6532	c.5893G>C	c.(5893-5895)Gaa>Caa	p.E1965Q	ASH1L_ENST00000392403.3_Missense_Mutation_p.E1965Q|snoU13_ENST00000458873.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1965					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.E1965Q(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AAGGTACTTTCAGGTTCAGAA	0.433																																						uc009wqq.2																			1	Substitution - Missense(1)		lung(1)	skin(5)|ovary(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	11						c.(5893-5895)GAA>CAA		absent, small, or homeotic 1-like							93.0	96.0	95.0					1																	155385650		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155385650C>G	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5893G>C	1.37:g.155385650C>G	ENSP00000357330:p.Glu1965Gln					ASH1L_uc001fkt.2_Missense_Mutation_p.E1965Q	p.E1965Q	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		6	6373	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1965					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.5893G>C		.	.	.	.	.	.	.	.	.	.	C	21.4	4.139650	0.77775	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.89196	-2.47;-2.48	4.98	4.98	0.66077	.	0.364680	0.27478	N	0.019191	T	0.78046	0.4222	N	0.14661	0.345	0.80722	D	1	P;P	0.46912	0.818;0.886	B;B	0.44085	0.255;0.44	D	0.83471	0.0059	10	0.62326	D	0.03	.	16.1993	0.82057	0.0:1.0:0.0:0.0	.	1965;1965	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	Q	1965	ENSP00000357330:E1965Q;ENSP00000376204:E1965Q	ENSP00000357330:E1965Q	E	-	1	0	ASH1L	153652274	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.454000	0.60068	2.604000	0.88044	0.585000	0.79938	GAA		PASS	0.433	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		28	120	28	120	---	---	---	---
YY1AP1	55249	broad.mit.edu	37	1	155657867	155657867	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:155657867C>T	ENST00000295566.4	-	2	196	c.173G>A	c.(172-174)cGa>cAa	p.R58Q	DAP3_ENST00000368336.5_5'Flank|YY1AP1_ENST00000476093.1_Intron|YY1AP1_ENST00000311573.5_5'UTR|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368340.5_Missense_Mutation_p.R130Q|YY1AP1_ENST00000404643.1_5'UTR|YY1AP1_ENST00000407221.1_5'UTR|YY1AP1_ENST00000368330.2_Intron|DAP3_ENST00000421487.2_5'Flank|DAP3_ENST00000471642.2_5'UTR|YY1AP1_ENST00000368339.5_Missense_Mutation_p.R130Q|YY1AP1_ENST00000355499.4_5'UTR|YY1AP1_ENST00000359205.5_5'UTR|DAP3_ENST00000535183.1_5'Flank|YY1AP1_ENST00000347088.5_Intron|DAP3_ENST00000343043.3_5'Flank|YY1AP1_ENST00000405763.3_Missense_Mutation_p.R130Q|YY1AP1_ENST00000438245.2_5'UTR|YY1AP1_ENST00000361831.5_5'UTR|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000465375.1_5'Flank	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	58					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R58Q(1)|p.R130Q(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTCACCGTGTCGGAGGCCGAG	0.627																																						uc001fln.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(172-174)CGA>CAA		YY1-associated protein isoform 2							38.0	44.0	42.0					1																	155657867		2203	4300	6503	SO:0001583	missense	55249				regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding	g.chr1:155657867C>T	BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.173G>A	1.37:g.155657867C>T	ENSP00000295566:p.Arg58Gln					YY1AP1_uc010pgi.1_Missense_Mutation_p.R130Q|YY1AP1_uc001flh.2_Missense_Mutation_p.R130Q|YY1AP1_uc009wqt.2_5'UTR|YY1AP1_uc001flk.2_5'UTR|YY1AP1_uc001fll.2_Intron|YY1AP1_uc009wqv.2_5'UTR|YY1AP1_uc001flm.2_5'UTR|YY1AP1_uc001fli.2_5'UTR|YY1AP1_uc009wqu.2_5'UTR|YY1AP1_uc001flj.2_5'UTR|YY1AP1_uc009wqw.2_5'UTR|YY1AP1_uc001flo.2_Intron|YY1AP1_uc001flp.2_Intron|YY1AP1_uc010pgj.1_Missense_Mutation_p.R58Q|YY1AP1_uc009wqx.2_Missense_Mutation_p.R130Q|YY1AP1_uc010pgk.1_Missense_Mutation_p.R130Q|DAP3_uc001flq.2_5'Flank|DAP3_uc001flr.2_5'Flank|DAP3_uc001fls.2_5'Flank|DAP3_uc010pgl.1_5'Flank|DAP3_uc001flt.2_5'Flank|DAP3_uc001flu.2_5'Flank|DAP3_uc010pgm.1_5'Flank	p.R58Q	NM_139118	NP_620829	Q9H869	YYAP1_HUMAN			2	197	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		58					B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	ENST00000295566.4	37	c.173G>A	CCDS1115.1	.	.	.	.	.	.	.	.	.	.	c	14.25	2.479041	0.44044	.	.	ENSG00000163374	ENST00000368340;ENST00000295566;ENST00000368339;ENST00000405763	T;T;T	0.27720	1.68;1.77;1.65	2.35	2.35	0.29111	.	0.078542	0.56097	D	0.000029	T	0.05410	0.0143	N	0.14661	0.345	0.80722	D	1	B;B;P;.;P	0.39717	0.405;0.204;0.559;.;0.684	B;B;B;.;B	0.18263	0.009;0.014;0.014;.;0.021	T	0.19910	-1.0291	10	0.56958	D	0.05	.	8.2379	0.31638	0.0:1.0:0.0:0.0	.	58;130;130;58;130	B4DQQ0;B4DMP2;B0QZ55;Q9H869;Q5VYZ1	.;.;.;YYAP1_HUMAN;.	Q	130;58;130;130	ENSP00000357324:R130Q;ENSP00000295566:R58Q;ENSP00000357323:R130Q	ENSP00000295566:R58Q	R	-	2	0	YY1AP1	153924491	1.000000	0.71417	1.000000	0.80357	0.867000	0.49689	2.480000	0.45206	1.302000	0.44855	0.398000	0.26397	CGA		PASS	0.627	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000086027.1	NM_139118		29	47	29	47	---	---	---	---
RHBG	57127	broad.mit.edu	37	1	156347189	156347189	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:156347189C>T	ENST00000368249.1	+	2	323	c.285C>T	c.(283-285)ctC>ctT	p.L95L	RHBG_ENST00000368246.2_Silent_p.L95L|RHBG_ENST00000255013.3_Silent_p.L26L|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000400992.2_Silent_p.L26L|RHBG_ENST00000451864.2_Silent_p.L26L	NM_001256396.1|NM_020407.4	NP_001243325.1|NP_065140.3	Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	95					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|transepithelial ammonium transport (GO:0070634)|transmembrane transport (GO:0055085)	anchored component of plasma membrane (GO:0046658)|basolateral plasma membrane (GO:0016323)|cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|spectrin-associated cytoskeleton (GO:0014731)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)	p.L95L(2)|p.L26L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCACCTTCCTCCTGGCCGCCT	0.622																																						uc010pho.1																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(283-285)CTC>CTT		Rhesus blood group, B glycoprotein							116.0	120.0	119.0					1																	156347189		2201	4300	6501	SO:0001819	synonymous_variant	57127				transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding	g.chr1:156347189C>T	AF193807		1q22	2013-05-22	2009-01-22		ENSG00000132677	ENSG00000132677		"""Solute carriers"""	14572	protein-coding gene	gene with protein product		607079	"""Rhesus blood group, B glycoprotein"""			10852913	Standard	NM_020407		Approved	SLC42A2	uc010pho.3	Q9H310	OTTHUMG00000024057	ENST00000368249.1:c.285C>T	1.37:g.156347189C>T						RHBG_uc010phm.1_Intron|RHBG_uc010phn.1_RNA|RHBG_uc001fos.2_Silent_p.L26L|RHBG_uc009wrz.2_Silent_p.L26L|RHBG_uc001for.2_Silent_p.L65L	p.L95L	NM_020407	NP_065140	Q9H310	RHBG_HUMAN			2	323	+	Hepatocellular(266;0.158)		95			Helical; (Potential).		A8K475|Q5SZW4|Q5SZW6|Q5SZW7|Q6P193|Q6YJI2|Q6YJI3	Silent	SNP	ENST00000368249.1	37	c.285C>T																																																																																					PASS	0.622	RHBG-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000060589.2	NM_001256395		46	84	46	84	---	---	---	---
TTC24	164118	broad.mit.edu	37	1	156552193	156552193	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:156552193C>T	ENST00000368237.3	+	2	877	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	TTC24_ENST00000368236.3_Missense_Mutation_p.R293W			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	293								p.R293W(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCAGGAAGCTCGGGAGTTTCA	0.622																																						uc009wsc.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(37-39)CGG>TGG		tetratricopeptide repeat domain 24							42.0	43.0	42.0					1																	156552193		1901	4125	6026	SO:0001583	missense	164118						binding	g.chr1:156552193C>T		CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.877C>T	1.37:g.156552193C>T	ENSP00000357220:p.Arg293Trp						p.R13W	NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN			1	177	+	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		293			TPR 6.		Q5T3H7	Missense_Mutation	SNP	ENST00000368237.3	37	c.37C>T	CCDS53379.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.946574	0.53186	.	.	ENSG00000187862	ENST00000368236;ENST00000368237	D;D	0.94576	-3.46;-3.46	4.38	3.46	0.39613	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.485704	0.17543	N	0.170454	D	0.89577	0.6755	L	0.59436	1.845	0.09310	N	1	D	0.58620	0.983	P	0.47376	0.545	D	0.83558	0.0105	10	0.62326	D	0.03	-6.5472	7.6164	0.28160	0.0:0.8045:0.0:0.1955	.	293	A2A3L6	TTC24_HUMAN	W	293	ENSP00000357219:R293W;ENSP00000357220:R293W	ENSP00000357219:R293W	R	+	1	2	TTC24	154818817	0.010000	0.17322	0.131000	0.22000	0.703000	0.40648	1.184000	0.32053	1.071000	0.40834	0.462000	0.41574	CGG		PASS	0.622	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1	XM_089384		18	17	18	17	---	---	---	---
FCER1A	2205	broad.mit.edu	37	1	159273818	159273818	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:159273818C>T	ENST00000368115.1	+	4	276	c.177C>T	c.(175-177)gtC>gtT	p.V59V	FCER1A_ENST00000368114.1_Splice_Site_p.V26V	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	59	Ig-like 1.				activation of JUN kinase activity (GO:0007257)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leukotriene biosynthetic process (GO:0019370)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of type I hypersensitivity (GO:0001812)|serotonin secretion (GO:0001820)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)	p.V59V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TCTTTGAAGTCAGTTCCACCA	0.378																																						uc001ftq.2																			1	Substitution - coding silent(1)		lung(1)	lung(2)|skin(2)|prostate(1)	5						c.(175-177)GTC>GTT		Fc fragment of IgE, high affinity I, receptor	Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)						72.0	70.0	71.0					1																	159273818		2203	4300	6503	SO:0001819	synonymous_variant	2205					integral to plasma membrane		g.chr1:159273818C>T	BC015195	CCDS1184.1	1q23	2013-01-11			ENSG00000179639	ENSG00000179639		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3609	protein-coding gene	gene with protein product		147140		FCE1A		8245459	Standard	NM_002001		Approved		uc001ftq.3	P12319	OTTHUMG00000037176	ENST00000368115.1:c.177C>T	1.37:g.159273818C>T							p.V59V	NM_002001	NP_001992	P12319	FCERA_HUMAN			4	276	+	all_hematologic(112;0.0429)		59			Extracellular (Potential).|Ig-like 1.			Silent	SNP	ENST00000368115.1	37	c.177C>T	CCDS1184.1																																																																																				PASS	0.378	FCER1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090328.2	NM_002001		13	70	13	70	---	---	---	---
ADCY10	55811	broad.mit.edu	37	1	167844384	167844384	+	Missense_Mutation	SNP	C	C	T	rs559581965		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:167844384C>T	ENST00000367851.4	-	13	1631	c.1447G>A	c.(1447-1449)Gat>Aat	p.D483N	ADCY10_ENST00000367848.1_Missense_Mutation_p.D391N|ADCY10_ENST00000545172.1_Missense_Mutation_p.D330N	NM_018417.4	NP_060887.2	Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	483					cAMP biosynthetic process (GO:0006171)|intracellular signal transduction (GO:0035556)|positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	apical part of cell (GO:0045177)|axon (GO:0030424)|basal part of cell (GO:0045178)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)	p.D483N(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAAGGGTAATCCTCCTTTCTG	0.393																																						uc001ger.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1447-1449)GAT>AAT		adenylate cyclase 10							111.0	105.0	107.0					1																	167844384		2203	4300	6503	SO:0001583	missense	55811				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	g.chr1:167844384C>T	AF271058	CCDS1265.1, CCDS53426.1, CCDS72977.1	1q24	2013-02-04			ENSG00000143199	ENSG00000143199	4.6.1.1	"""Adenylate cyclases"""	21285	protein-coding gene	gene with protein product	"""soluble adenylyl cyclase"", ""Hypercalciuria, absorptive, 2"""	605205					Standard	XM_006711449		Approved	SAC, Sacy, SACI, HCA2, RP1-313L4.2	uc001ger.3	Q96PN6	OTTHUMG00000034573	ENST00000367851.4:c.1447G>A	1.37:g.167844384C>T	ENSP00000356825:p.Asp483Asn					ADCY10_uc009wvk.2_Missense_Mutation_p.D391N|ADCY10_uc010plj.1_Missense_Mutation_p.D330N|ADCY10_uc009wvl.2_Missense_Mutation_p.D482N	p.D483N	NM_018417	NP_060887	Q96PN6	ADCYA_HUMAN			13	1745	-			483					B4DZF0|F5GWS5|O95558|Q5R329|Q5R330|Q8WXV4|Q9NNX0	Missense_Mutation	SNP	ENST00000367851.4	37	c.1447G>A	CCDS1265.1	.	.	.	.	.	.	.	.	.	.	C	0.381	-0.928607	0.02359	.	.	ENSG00000143199	ENST00000545172;ENST00000367851;ENST00000367848	T;T;T	0.30448	1.53;1.53;1.53	6.03	-3.28	0.05033	.	1.184050	0.05782	N	0.608796	T	0.02649	0.0080	N	0.04508	-0.205	0.23168	N	0.998184	B;B;B	0.34015	0.435;0.241;0.156	B;B;B	0.29785	0.107;0.069;0.023	T	0.20840	-1.0263	9	0.17369	T	0.5	0.2935	1.524	0.02521	0.1153:0.3121:0.2254:0.3472	.	330;391;483	F5GWS5;Q96PN6-2;Q96PN6	.;.;ADCYA_HUMAN	N	330;483;391	ENSP00000441992:D330N;ENSP00000356825:D483N;ENSP00000356822:D391N	ENSP00000356822:D391N	D	-	1	0	ADCY10	166111008	0.001000	0.12720	0.009000	0.14445	0.067000	0.16453	-0.629000	0.05508	-0.603000	0.05767	-0.175000	0.13238	GAT		PASS	0.393	ADCY10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083663.1	NM_018417		14	66	14	66	---	---	---	---
F5	2153	broad.mit.edu	37	1	169505854	169505854	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:169505854G>C	ENST00000367797.3	-	14	5062	c.4861C>G	c.(4861-4863)Cga>Gga	p.R1621G	F5_ENST00000367796.3_Missense_Mutation_p.R1626G	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1621	F5/8 type A 3.|Plastocyanin-like 5.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.R1621G(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	AGGTACTTTCGAAAAACTACT	0.368																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(4861-4863)CGA>GGA		coagulation factor V precursor	Drotrecogin alfa(DB00055)						96.0	96.0	96.0					1																	169505854		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169505854G>C	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.4861C>G	1.37:g.169505854G>C	ENSP00000356771:p.Arg1621Gly						p.R1621G	NM_000130	NP_000121	P12259	FA5_HUMAN			14	5006	-	all_hematologic(923;0.208)		1621			F5/8 type A 3.|Plastocyanin-like 5.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.4861C>G	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.192891	0.78902	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99226	-5.59;-5.59	5.0	4.06	0.47325	Cupredoxin (2);	0.072732	0.64402	D	0.000018	D	0.99498	0.9821	M	0.93241	3.395	0.38542	D	0.949257	D	0.89917	1.0	D	0.79784	0.993	D	0.98329	1.0532	9	0.72032	D	0.01	-6.934	14.5871	0.68335	0.0:0.0:0.8482:0.1518	.	1621	P12259	FA5_HUMAN	G	1621;1626	ENSP00000356771:R1621G;ENSP00000356770:R1626G	ENSP00000356770:R1626G	R	-	1	2	F5	167772478	1.000000	0.71417	0.997000	0.53966	0.985000	0.73830	4.141000	0.58038	1.166000	0.42689	0.655000	0.94253	CGA		PASS	0.368	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		12	72	12	72	---	---	---	---
SELE	6401	broad.mit.edu	37	1	169699685	169699685	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:169699685G>T	ENST00000333360.7	-	5	742	c.603C>A	c.(601-603)agC>agA	p.S201R	SELE_ENST00000367775.1_Intron|SELE_ENST00000367780.4_Intron|SELE_ENST00000367779.4_Missense_Mutation_p.S201R|SELE_ENST00000367782.4_Missense_Mutation_p.S201R|SELE_ENST00000367781.4_Missense_Mutation_p.S201R|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Missense_Mutation_p.S201R|SELE_ENST00000367776.1_Missense_Mutation_p.S201R|SELE_ENST00000367777.1_Missense_Mutation_p.S201R	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	201	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				actin filament-based process (GO:0030029)|activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of receptor internalization (GO:0002092)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)	caveola (GO:0005901)|coated pit (GO:0005905)|cortical cytoskeleton (GO:0030863)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	oligosaccharide binding (GO:0070492)|phospholipase binding (GO:0043274)|sialic acid binding (GO:0033691)|transmembrane signaling receptor activity (GO:0004888)	p.S201R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)				Carvedilol(DB01136)	AAGAATTGTAGCTGAAGTTTC	0.493																																						uc001ggm.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)	5						c.(601-603)AGC>AGA		selectin E precursor							107.0	100.0	102.0					1																	169699685		2203	4300	6503	SO:0001583	missense	6401				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	g.chr1:169699685G>T	M30640	CCDS1283.1	1q22-q25	2008-07-31	2008-07-31		ENSG00000007908	ENSG00000007908		"""CD molecules"""	10718	protein-coding gene	gene with protein product		131210	"""endothelial adhesion molecule 1"""	ELAM1, ELAM		1375831	Standard	NM_000450		Approved	ESEL, CD62E	uc001ggm.4	P16581	OTTHUMG00000034851	ENST00000333360.7:c.603C>A	1.37:g.169699685G>T	ENSP00000331736:p.Ser201Arg					C1orf112_uc001ggj.2_Intron	p.S201R	NM_000450	NP_000441	P16581	LYAM2_HUMAN			5	760	-	all_hematologic(923;0.208)		201			Sushi 1.|Extracellular (Potential).		A2RRD6|P16111	Missense_Mutation	SNP	ENST00000333360.7	37	c.603C>A	CCDS1283.1	.	.	.	.	.	.	.	.	.	.	G	17.75	3.466598	0.63625	.	.	ENSG00000007908	ENST00000367781;ENST00000367782;ENST00000367779;ENST00000333360;ENST00000367777;ENST00000367776;ENST00000367774	T;T;T;T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15;-0.15;-0.15;-0.15	5.0	3.12	0.35913	Complement control module (2);Sushi/SCR/CCP (3);	0.130911	0.35805	N	0.002970	T	0.59128	0.2171	L	0.58969	1.84	0.32443	N	0.546494	D	0.67145	0.996	D	0.70935	0.971	T	0.62048	-0.6936	10	0.72032	D	0.01	-25.8178	4.449	0.11611	0.194:0.1884:0.6176:0.0	.	201	P16581	LYAM2_HUMAN	R	201	ENSP00000356755:S201R;ENSP00000356756:S201R;ENSP00000356753:S201R;ENSP00000331736:S201R;ENSP00000356751:S201R;ENSP00000356750:S201R;ENSP00000356748:S201R	ENSP00000331736:S201R	S	-	3	2	SELE	167966309	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	2.987000	0.49378	1.416000	0.47057	0.655000	0.94253	AGC		PASS	0.493	SELE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084333.1	NM_000450		31	57	31	57	---	---	---	---
TNR	7143	broad.mit.edu	37	1	175293559	175293559	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:175293559G>T	ENST00000367674.2	-	22	4598	c.3890C>A	c.(3889-3891)gCa>gAa	p.A1297E	TNR_ENST00000263525.2_Missense_Mutation_p.A1297E|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R	1297	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)		p.A1297E(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ATACCACCATGCTCCCTTGTA	0.532																																						uc001gkp.1																			1	Substitution - Missense(1)		lung(1)	pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1)	11						c.(3889-3891)GCA>GAA		tenascin R precursor							255.0	188.0	211.0					1																	175293559		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175293559G>T	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.3890C>A	1.37:g.175293559G>T	ENSP00000356646:p.Ala1297Glu					TNR_uc009wwu.1_Missense_Mutation_p.A1297E	p.A1297E	NM_003285	NP_003276	Q92752	TENR_HUMAN			20	3971	-	Renal(580;0.146)		1297			Fibrinogen C-terminal.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.3890C>A	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	35	5.439358	0.96168	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.24908	1.83;1.83	5.66	5.66	0.87406	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.055536	0.64402	D	0.000001	T	0.70219	0.3199	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82676	-0.0339	10	0.87932	D	0	.	19.3551	0.94408	0.0:0.0:1.0:0.0	.	1297	Q92752	TENR_HUMAN	E	1297;1297;1207	ENSP00000356646:A1297E;ENSP00000263525:A1297E	ENSP00000263525:A1297E	A	-	2	0	TNR	173560182	1.000000	0.71417	0.756000	0.31282	0.976000	0.68499	9.731000	0.98807	2.666000	0.90696	0.655000	0.94253	GCA		PASS	0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		26	77	26	77	---	---	---	---
LAMC2	3918	broad.mit.edu	37	1	183192282	183192282	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:183192282G>T	ENST00000264144.4	+	7	841	c.776G>T	c.(775-777)gGg>gTg	p.G259V	LAMC2_ENST00000493293.1_Missense_Mutation_p.G259V	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	259	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	cell cortex (GO:0005938)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-2 complex (GO:0005607)|laminin-5 complex (GO:0005610)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	heparin binding (GO:0008201)	p.G259V(1)		breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AAATTTCTTGGGAATCAACAG	0.463																																						uc001gqa.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|ovary(1)	3						c.(775-777)GGG>GTG		laminin, gamma 2 isoform a precursor							67.0	68.0	68.0					1																	183192282		2203	4300	6503	SO:0001583	missense	3918				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding	g.chr1:183192282G>T	Z15008	CCDS1352.1, CCDS44285.1	1q25-q31	2013-03-01	2002-08-29		ENSG00000058085	ENSG00000058085		"""Laminins"""	6493	protein-coding gene	gene with protein product		150292	"""laminin, gamma 2 (nicein (100kD), kalinin (105kD), BM600 (100kD), Herlitz junctional epidermolysis bullosa))"""	EBR2, LAMB2T, LAMNB2, EBR2A		1383240	Standard	NM_005562		Approved	nicein-100kDa, kalinin-105kDa, BM600-100kDa	uc001gqa.2	Q13753	OTTHUMG00000035520	ENST00000264144.4:c.776G>T	1.37:g.183192282G>T	ENSP00000264144:p.Gly259Val					LAMC2_uc001gpz.3_Missense_Mutation_p.G259V|LAMC2_uc010poa.1_Intron	p.G259V	NM_005562	NP_005553	Q13753	LAMC2_HUMAN			7	1090	+			259			Laminin IV type A.		Q02536|Q02537|Q13752|Q14941|Q14DF7|Q2M1N2|Q5VYE8	Missense_Mutation	SNP	ENST00000264144.4	37	c.776G>T	CCDS1352.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.596191	0.86953	.	.	ENSG00000058085	ENST00000493293;ENST00000537180;ENST00000264144	T;T	0.73897	-0.79;-0.79	5.12	5.12	0.69794	Laminin B type IV (2);Laminin B, subgroup (1);Growth factor, receptor (1);	0.000000	0.64402	D	0.000001	D	0.87265	0.6134	M	0.81179	2.53	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89060	0.3462	10	0.87932	D	0	.	18.5621	0.91104	0.0:0.0:1.0:0.0	.	259;259	Q13753;Q13753-2	LAMC2_HUMAN;.	V	259	ENSP00000432063:G259V;ENSP00000264144:G259V	ENSP00000264144:G259V	G	+	2	0	LAMC2	181458905	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.135000	0.94478	2.383000	0.81215	0.655000	0.94253	GGG		PASS	0.463	LAMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086258.1	NM_005562		17	43	17	43	---	---	---	---
PTPRC	5788	broad.mit.edu	37	1	198687416	198687416	+	Silent	SNP	A	A	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:198687416A>G	ENST00000367376.2	+	14	1809	c.1638A>G	c.(1636-1638)acA>acG	p.T546T	PTPRC_ENST00000594404.1_Silent_p.T385T|PTPRC_ENST00000442510.2_Silent_p.T548T|PTPRC_ENST00000348564.6_Silent_p.T387T|PTPRC_ENST00000352140.3_Silent_p.T498T	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	546	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T546T(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AATATTCAACAGACTACACTT	0.323																																						uc001gur.1																			1	Substitution - coding silent(1)		lung(1)	breast(4)|skin(3)|ovary(2)|lung(1)|kidney(1)|pancreas(1)	12						c.(1636-1638)ACA>ACG		protein tyrosine phosphatase, receptor type, C							53.0	51.0	51.0					1																	198687416		2202	4300	6502	SO:0001819	synonymous_variant	5788				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr1:198687416A>G	Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1638A>G	1.37:g.198687416A>G						PTPRC_uc001gus.1_Silent_p.T498T|PTPRC_uc001gut.1_Silent_p.T385T|PTPRC_uc009wzf.1_Silent_p.T434T|PTPRC_uc010ppg.1_Silent_p.T482T	p.T546T	NM_002838	NP_002829	P08575	PTPRC_HUMAN			14	1818	+			546			Extracellular (Potential).|Fibronectin type-III 2.		A8K7W6|Q16614|Q9H0Y6	Silent	SNP	ENST00000367376.2	37	c.1638A>G																																																																																					PASS	0.323	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				10	17	10	17	---	---	---	---
CACNA1S	779	broad.mit.edu	37	1	201027567	201027567	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:201027567C>T	ENST00000362061.3	-	28	3804	c.3578G>A	c.(3577-3579)aGc>aAc	p.S1193N	CACNA1S_ENST00000367338.3_Missense_Mutation_p.S1193N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1193					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.S1193N(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	ATCAATGATGCTGCCAATGAC	0.507																																						uc001gvv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(1)|skin(1)	5						c.(3577-3579)AGC>AAC		calcium channel, voltage-dependent, L type,	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						120.0	100.0	107.0					1																	201027567		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201027567C>T	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3578G>A	1.37:g.201027567C>T	ENSP00000355192:p.Ser1193Asn						p.S1193N	NM_000069	NP_000060	Q13698	CAC1S_HUMAN			28	3805	-			1193			IV.|Helical; Name=S3 of repeat IV; (Potential).		A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.3578G>A	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662230	0.88251	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.98889	-5.21;-5.21	4.19	4.19	0.49359	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99542	0.9836	H	0.99379	4.54	0.58432	D	0.999995	D	0.67145	0.996	D	0.70227	0.968	D	0.97490	1.0053	10	0.87932	D	0	.	15.7857	0.78300	0.0:1.0:0.0:0.0	.	1193	Q13698	CAC1S_HUMAN	N	1193	ENSP00000355192:S1193N;ENSP00000356307:S1193N	ENSP00000355192:S1193N	S	-	2	0	CACNA1S	199294190	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.623000	0.83113	2.317000	0.78254	0.555000	0.69702	AGC		PASS	0.507	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		21	56	21	56	---	---	---	---
PPP2R5A	5525	broad.mit.edu	37	1	212515550	212515550	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:212515550G>C	ENST00000261461.2	+	4	1075	c.501G>C	c.(499-501)ttG>ttC	p.L167F	PPP2R5A_ENST00000537030.3_Missense_Mutation_p.L110F|PPP2R5A_ENST00000498129.2_3'UTR	NM_006243.3	NP_006234.1	Q15172	2A5A_HUMAN	protein phosphatase 2, regulatory subunit B', alpha	167					negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of lipid kinase activity (GO:0090219)|positive regulation of protein dephosphorylation (GO:0035307)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|M band (GO:0031430)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)|Z disc (GO:0030018)	kinase binding (GO:0019900)|protein phosphatase type 2A regulator activity (GO:0008601)	p.L167F(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	16				OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)		AATTCTTCTTGAGATTTTTGG	0.343																																						uc001hjb.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(499-501)TTG>TTC		protein phosphatase 2, regulatory subunit B							123.0	119.0	120.0					1																	212515550		2203	4300	6503	SO:0001583	missense	5525				negative regulation of establishment of protein localization in plasma membrane|negative regulation of lipid kinase activity|positive regulation of protein dephosphorylation|signal transduction	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex	kinase binding|protein phosphatase type 2A regulator activity	g.chr1:212515550G>C	BC022474	CCDS1503.1, CCDS55686.1	1q32.2-q32.3	2010-06-18	2010-04-14		ENSG00000066027	ENSG00000066027		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9309	protein-coding gene	gene with protein product		601643	"""protein phosphatase 2, regulatory subunit B (B56), alpha isoform"", ""protein phosphatase 2, regulatory subunit B', alpha isoform"""			7592815	Standard	NM_006243		Approved	PR61A, B56A	uc001hjb.3	Q15172	OTTHUMG00000036750	ENST00000261461.2:c.501G>C	1.37:g.212515550G>C	ENSP00000261461:p.Leu167Phe					PPP2R5A_uc010ptd.1_Missense_Mutation_p.L108F	p.L167F	NM_006243	NP_006234	Q15172	2A5A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0125)|all cancers(67;0.029)|Epithelial(68;0.154)|GBM - Glioblastoma multiforme(131;0.155)	4	1075	+			167					B2R6D2|B7Z7L2|D3DT99|Q2NL72|Q5VVB2|Q8TBI9	Missense_Mutation	SNP	ENST00000261461.2	37	c.501G>C	CCDS1503.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568982	0.65765	.	.	ENSG00000066027	ENST00000542178;ENST00000261461;ENST00000537030	.	.	.	5.86	2.34	0.29019	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79269	0.4417	M	0.92317	3.295	0.51233	D	0.999917	D;D	0.60160	0.987;0.987	D;D	0.67548	0.952;0.952	T	0.79115	-0.1936	9	0.87932	D	0	-12.4748	6.9718	0.24652	0.3238:0.1403:0.536:0.0	.	110;167	B7Z7L2;Q15172	.;2A5A_HUMAN	F	167;167;110	.	ENSP00000261461:L167F	L	+	3	2	PPP2R5A	210582173	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	0.473000	0.22132	0.697000	0.31718	0.650000	0.86243	TTG		PASS	0.343	PPP2R5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089302.1	NM_006243		40	85	40	85	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215821941	215821941	+	Silent	SNP	G	G	A	rs139847770	byFrequency	TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:215821941G>A	ENST00000307340.3	-	66	14897	c.14511C>T	c.(14509-14511)atC>atT	p.I4837I	USH2A_ENST00000366943.2_Silent_p.I4837I	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4837	Fibronectin type-III 34. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.I4837I(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CCAGCGTCCCGATTTGTGGAG	0.572										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - coding silent(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(14509-14511)ATC>ATT		usherin isoform B		G		0,4406		0,0,2203	106.0	93.0	97.0		14511	2.6	0.7	1	dbSNP_134	97	2,8598	2.2+/-6.3	0,2,4298	yes	coding-synonymous	USH2A	NM_206933.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		4837/5203	215821941	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215821941G>A	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.14511C>T	1.37:g.215821941G>A		HNSCC(13;0.011)					p.I4837I	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	66	14898	-			4837			Extracellular (Potential).|Fibronectin type-III 34.		Q5VVM9|Q6S362|Q9NS27	Silent	SNP	ENST00000307340.3	37	c.14511C>T	CCDS31025.1																																																																																				PASS	0.572	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		33	55	33	55	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	215916599	215916599	+	Missense_Mutation	SNP	A	A	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:215916599A>G	ENST00000307340.3	-	59	11854	c.11468T>C	c.(11467-11469)gTt>gCt	p.V3823A	USH2A_ENST00000366943.2_Missense_Mutation_p.V3823A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3823	Fibronectin type-III 23. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.V3823A(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		ATGATGACCAACGGAGAAGGC	0.428										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(11467-11469)GTT>GCT		usherin isoform B							145.0	138.0	140.0					1																	215916599		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:215916599A>G	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.11468T>C	1.37:g.215916599A>G	ENSP00000305941:p.Val3823Ala	HNSCC(13;0.011)					p.V3823A	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	59	11855	-			3823			Fibronectin type-III 23.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.11468T>C	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	0.545	-0.851955	0.02651	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.59906	0.23;0.23	4.94	-3.1	0.05315	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.363061	0.19625	N	0.109818	T	0.35364	0.0929	N	0.25890	0.77	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.37314	-0.9711	10	0.02654	T	1	.	14.162	0.65452	0.4654:0.0:0.5346:0.0	.	3823	O75445	USH2A_HUMAN	A	3823	ENSP00000305941:V3823A;ENSP00000355910:V3823A	ENSP00000305941:V3823A	V	-	2	0	USH2A	213983222	0.001000	0.12720	0.000000	0.03702	0.047000	0.14425	0.326000	0.19646	-0.687000	0.05162	-0.256000	0.11100	GTT		PASS	0.428	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		29	107	29	107	---	---	---	---
USH2A	7399	broad.mit.edu	37	1	216420520	216420520	+	Missense_Mutation	SNP	A	A	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:216420520A>C	ENST00000307340.3	-	13	2602	c.2216T>G	c.(2215-2217)tTt>tGt	p.F739C	USH2A_ENST00000366943.2_Missense_Mutation_p.F739C|USH2A_ENST00000366942.3_Missense_Mutation_p.F739C	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	739	Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.		F -> L (in RP39; unknown pathological significance). {ECO:0000269|PubMed:15325563}.		hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.F739C(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AACATCATTAAAGCTTCGGAG	0.393										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(2215-2217)TTT>TGT		usherin isoform B							74.0	80.0	78.0					1																	216420520		2200	4298	6498	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216420520A>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2216T>G	1.37:g.216420520A>C	ENSP00000305941:p.Phe739Cys	HNSCC(13;0.011)				USH2A_uc001hkv.2_Missense_Mutation_p.F739C	p.F739C	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	2603	-			739		F -> L (in RP39; uncertain pathogenicity).	Laminin EGF-like 4.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2216T>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	A	13.93	2.385255	0.42308	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.51574	0.7;0.7;0.7	5.69	0.536	0.17138	EGF-like, laminin (4);	0.477279	0.17701	N	0.164919	T	0.47135	0.1429	L	0.52759	1.655	0.09310	N	1	D;D	0.61697	0.978;0.99	P;P	0.57371	0.725;0.819	T	0.32824	-0.9892	10	0.38643	T	0.18	.	2.168	0.03842	0.5479:0.1288:0.2114:0.1119	.	739;739	O75445-2;O75445	.;USH2A_HUMAN	C	739	ENSP00000305941:F739C;ENSP00000355910:F739C;ENSP00000355909:F739C	ENSP00000305941:F739C	F	-	2	0	USH2A	214487143	0.008000	0.16893	0.000000	0.03702	0.991000	0.79684	1.207000	0.32333	-0.166000	0.10890	0.533000	0.62120	TTT		PASS	0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		3	158	3	158	---	---	---	---
RRP15	51018	broad.mit.edu	37	1	218480911	218480911	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:218480911G>T	ENST00000366932.3	+	4	672	c.642G>T	c.(640-642)ttG>ttT	p.L214F		NM_016052.3	NP_057136.2	Q9Y3B9	RRP15_HUMAN	ribosomal RNA processing 15 homolog (S. cerevisiae)	214						mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)		p.L214F(2)	ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		TCAGTGTTTTGAGAGGGATGG	0.368																																						uc001hlj.2																			2	Substitution - Missense(2)		lung(2)		0						c.(640-642)TTG>TTT		ribosomal RNA processing 15 homolog							109.0	106.0	107.0					1																	218480911		2203	4300	6503	SO:0001583	missense	51018					mitochondrion|nucleolus	protein binding	g.chr1:218480911G>T		CCDS1520.2	1q41	2008-02-05			ENSG00000067533	ENSG00000067533			24255	protein-coding gene	gene with protein product		611193	"""KIAA0507"""	KIAA0507		15769876	Standard	NM_016052		Approved	CGI-115	uc001hlj.3	Q9Y3B9	OTTHUMG00000039494	ENST00000366932.3:c.642G>T	1.37:g.218480911G>T	ENSP00000355899:p.Leu214Phe						p.L214F	NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN		all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)	4	672	+			214						Missense_Mutation	SNP	ENST00000366932.3	37	c.642G>T	CCDS1520.2	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647919	0.67358	.	.	ENSG00000067533	ENST00000366932	T	0.55760	0.5	5.87	-5.16	0.02857	.	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	M	0.90759	3.145	0.38352	D	0.944351	D	0.89917	1.0	D	0.97110	1.0	T	0.68096	-0.5499	10	0.46703	T	0.11	.	6.3652	0.21451	0.1169:0.4508:0.2711:0.1611	.	214	Q9Y3B9	RRP15_HUMAN	F	214	ENSP00000355899:L214F	ENSP00000355899:L214F	L	+	3	2	RRP15	216547534	0.041000	0.20044	0.526000	0.27913	0.988000	0.76386	-0.804000	0.04535	-0.694000	0.05113	0.655000	0.94253	TTG		PASS	0.368	RRP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095284.1	NM_016052		7	38	7	38	---	---	---	---
SLC30A10	55532	broad.mit.edu	37	1	220091807	220091807	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:220091807G>A	ENST00000366926.3	-	3	909	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Silent_p.L5L	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	250					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)	p.L250L(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		ACGGACCCCAGGGCATCTCCC	0.527																																					Colon(76;360 1614 43677 51136)	uc001hlw.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(748-750)CTG>TTG		solute carrier family 30 (zinc transporter),							138.0	126.0	130.0					1																	220091807		2203	4300	6503	SO:0001819	synonymous_variant	55532				zinc ion transport	integral to membrane|plasma membrane	cation transmembrane transporter activity	g.chr1:220091807G>A	AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.748C>T	1.37:g.220091807G>A						SLC30A10_uc001hlu.1_RNA|SLC30A10_uc001hlv.2_Silent_p.L5L|SLC30A10_uc001hlx.2_Silent_p.L25L	p.L250L	NM_018713	NP_061183	Q6XR72	ZNT10_HUMAN		GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)	3	959	-			250			Helical; (Potential).		Q49AL9|Q9NPW0	Silent	SNP	ENST00000366926.3	37	c.748C>T	CCDS31026.1																																																																																				PASS	0.527	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357709.1	NM_018713		19	84	19	84	---	---	---	---
SIPA1L2	57568	broad.mit.edu	37	1	232650395	232650395	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:232650395G>T	ENST00000366630.1	-	2	1049	c.691C>A	c.(691-693)Cct>Act	p.P231T	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.P231T			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	231					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)	p.P231T(1)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAAAATTCAGGGAACCCAAAA	0.458																																						uc001hvg.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(2)|pancreas(1)|skin(1)	6						c.(691-693)CCT>ACT		signal-induced proliferation-associated 1 like							89.0	88.0	88.0					1																	232650395		1865	4107	5972	SO:0001583	missense	57568				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	g.chr1:232650395G>T	AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.691C>A	1.37:g.232650395G>T	ENSP00000355589:p.Pro231Thr						p.P231T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN			1	849	-		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)	231					Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	ENST00000366630.1	37	c.691C>A	CCDS41474.1	.	.	.	.	.	.	.	.	.	.	G	4.020	0.001054	0.07819	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.77489	-1.1;-1.1	5.19	4.28	0.50868	.	0.060512	0.64402	D	0.000002	T	0.61388	0.2343	L	0.28274	0.84	0.46954	D	0.999261	B	0.11235	0.004	B	0.08055	0.003	T	0.53301	-0.8458	10	0.12430	T	0.62	-14.8999	9.4202	0.38546	0.2214:0.0:0.7786:0.0	.	231	Q9P2F8	SI1L2_HUMAN	T	231	ENSP00000355589:P231T;ENSP00000262861:P231T	ENSP00000262861:P231T	P	-	1	0	SIPA1L2	230717018	1.000000	0.71417	0.988000	0.46212	0.986000	0.74619	3.004000	0.49513	1.430000	0.47334	0.650000	0.86243	CCT		PASS	0.458	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092318.1	XM_045839		48	95	48	95	---	---	---	---
CHRM3	1131	broad.mit.edu	37	1	240072470	240072470	+	Nonsense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:240072470C>G	ENST00000255380.4	+	5	2498	c.1719C>G	c.(1717-1719)taC>taG	p.Y573*		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	573					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)	p.Y573*(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	AGCAGCAGTACCAGCAGAGAC	0.493																																						uc001hyp.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|skin(1)	5						c.(1717-1719)TAC>TAG		cholinergic receptor, muscarinic 3	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)						48.0	48.0	48.0					1																	240072470		2203	4300	6503	SO:0001587	stop_gained	1131				cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	g.chr1:240072470C>G	U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.1719C>G	1.37:g.240072470C>G	ENSP00000255380:p.Tyr573*						p.Y573*	NM_000740	NP_000731	P20309	ACM3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		5	2498	+	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	573			Cytoplasmic (By similarity).		Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Nonsense_Mutation	SNP	ENST00000255380.4	37	c.1719C>G	CCDS1616.1	.	.	.	.	.	.	.	.	.	.	C	43	10.119724	0.99340	.	.	ENSG00000133019	ENST00000255380	.	.	.	5.58	3.38	0.38709	.	0.202097	0.43919	D	0.000502	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.9527	9.015	0.36164	0.0:0.7348:0.0:0.2652	.	.	.	.	X	573	.	ENSP00000255380:Y573X	Y	+	3	2	CHRM3	238139093	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	0.867000	0.27968	1.362000	0.46000	0.655000	0.94253	TAC		PASS	0.493	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095644.2	NM_000740		17	61	17	61	---	---	---	---
OR2W5	441932	broad.mit.edu	37	1	247655152	247655152	+	RNA	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:247655152G>C	ENST00000522351.1	+	0	783							A6NFC9	OR2W5_HUMAN	olfactory receptor, family 2, subfamily W, member 5							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L241L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTCCACACCTGCTCTTCTCAC	0.562																																						uc001icz.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|skin(1)	3						c.(721-723)CTG>CTC		olfactory receptor, family 2, subfamily W,							141.0	127.0	131.0					1																	247655152		2203	4300	6503			441932				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247655152G>C			1q44	2013-03-27		2004-03-10	ENSG00000203664	ENSG00000203664		"""GPCR / Class A : Olfactory receptors"""	15424	other	unknown				OR2W5P		12213199	Standard	NM_001004698		Approved	OST722	uc001icz.2	A6NFC9	OTTHUMG00000040573		1.37:g.247655152G>C							p.L241L	NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0188)		1	723	+	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	241					B9EH85	Silent	SNP	ENST00000522351.1	37	c.723G>C																																																																																					PASS	0.562	OR2W5-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000375789.1	NM_001004698		44	77	44	77	---	---	---	---
OR2G3	81469	broad.mit.edu	37	1	247769620	247769620	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:247769620C>A	ENST00000320002.2	+	1	765	c.733C>A	c.(733-735)Ctt>Att	p.L245I	RNU6-691P_ENST00000516585.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	245						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L245I(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTCCTCCCACCTTACAGTGGT	0.478																																						uc010pyz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(733-735)CTT>ATT		olfactory receptor, family 2, subfamily G,							128.0	117.0	120.0					1																	247769620		2203	4300	6503	SO:0001583	missense	81469				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247769620C>A	BK004417	CCDS31093.1	1q44	2012-08-09			ENSG00000177476	ENSG00000177476		"""GPCR / Class A : Olfactory receptors"""	15008	protein-coding gene	gene with protein product							Standard	NM_001001914		Approved		uc010pyz.2	Q8NGZ4	OTTHUMG00000040576	ENST00000320002.2:c.733C>A	1.37:g.247769620C>A	ENSP00000326301:p.Leu245Ile						p.L245I	NM_001001914	NP_001001914	Q8NGZ4	OR2G3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	733	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		245			Helical; Name=6; (Potential).		B2RN64|Q5JQT1|Q6IF45	Missense_Mutation	SNP	ENST00000320002.2	37	c.733C>A	CCDS31093.1	.	.	.	.	.	.	.	.	.	.	C	16.74	3.205891	0.58234	.	.	ENSG00000177476	ENST00000320002	T	0.43294	0.95	3.65	1.56	0.23342	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33253	U	0.005108	T	0.47414	0.1444	M	0.62016	1.91	0.23616	N	0.997284	D	0.57899	0.981	P	0.55260	0.772	T	0.30208	-0.9986	10	0.72032	D	0.01	.	5.9684	0.19338	0.1881:0.6995:0.0:0.1124	.	245	Q8NGZ4	OR2G3_HUMAN	I	245	ENSP00000326301:L245I	ENSP00000326301:L245I	L	+	1	0	OR2G3	245836243	0.784000	0.28713	0.898000	0.35279	0.713000	0.41058	0.237000	0.17985	0.868000	0.35678	0.492000	0.49549	CTT		PASS	0.478	OR2G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097624.1			33	34	33	34	---	---	---	---
OR14A16	284532	broad.mit.edu	37	1	247978591	247978591	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:247978591C>A	ENST00000357627.1	-	1	440	c.441G>T	c.(439-441)tgG>tgT	p.W147C		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	147						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.W147C(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CCCCATACAGCCAAGACACAG	0.512																																					Ovarian(112;180 1586 15073 21914 33526)	uc001idm.1																			1	Substitution - Missense(1)		lung(1)		0						c.(439-441)TGG>TGT		olfactory receptor, family 14, subfamily A,							123.0	112.0	116.0					1																	247978591		2203	4300	6503	SO:0001583	missense	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978591C>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.441G>T	1.37:g.247978591C>A	ENSP00000350248:p.Trp147Cys						p.W147C	NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN			1	441	-			147			Helical; Name=4; (Potential).		Q6IF96	Missense_Mutation	SNP	ENST00000357627.1	37	c.441G>T	CCDS31097.1	.	.	.	.	.	.	.	.	.	.	C	14.42	2.530830	0.45073	.	.	ENSG00000196772	ENST00000357627	T	0.59638	0.25	3.51	3.51	0.40186	GPCR, rhodopsin-like superfamily (1);	0.169215	0.28544	U	0.014970	T	0.78679	0.4321	M	0.88310	2.945	0.46061	D	0.998847	D	0.56035	0.974	D	0.70487	0.969	D	0.84327	0.0519	10	0.87932	D	0	.	15.3604	0.74469	0.0:1.0:0.0:0.0	.	147	Q8NHC5	O14AG_HUMAN	C	147	ENSP00000350248:W147C	ENSP00000350248:W147C	W	-	3	0	OR14A16	246045214	0.037000	0.19845	0.041000	0.18516	0.005000	0.04900	0.356000	0.20181	2.010000	0.58986	0.590000	0.80494	TGG		PASS	0.512	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		39	87	39	87	---	---	---	---
OR2T6	254879	broad.mit.edu	37	1	248551196	248551197	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr1:248551196_248551197CC>AA	ENST00000355728.2	+	1	287_288	c.287_288CC>AA	c.(286-288)gCC>gAA	p.A96E		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A96D(1)|p.A96E(1)|p.A96A(1)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTTCATCGCCTGCACTGCTC	0.535																																						uc001iei.1																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(2)|skin(1)	3						c.(286-288)GCC>GAC|c.(286-288)GCC>GCA		olfactory receptor, family 2, subfamily T,																																				SO:0001583	missense	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551196C>A|g.chr1:248551197C>A	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	Exception_encountered	1.37:g.248551196_248551197delinsAA	ENSP00000347965:p.Ala96Glu						p.A96D|p.A96A	NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	287|288	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		96			Extracellular (Potential).		A6NE36	Missense_Mutation|Silent	SNP	ENST00000355728.2	37	c.287C>A|c.288C>A	CCDS31114.1																																																																																				PASS	0.535	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		41	82|83	41	82	---	---	---	---
RSAD2	91543	broad.mit.edu	37	2	7018277	7018277	+	Splice_Site	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:7018277G>A	ENST00000382040.3	+	1	482	c.346G>A	c.(346-348)Ggt>Agt	p.G116S	RSAD2_ENST00000541728.1_5'Flank	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2									p.G116S(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		TAAGGAAGCTGGTGAGTACAT	0.512																																						uc002qyp.1																			1	Substitution - Missense(1)		lung(1)		0						c.(346-348)GGT>AGT		radical S-adenosyl methionine domain containing							48.0	45.0	46.0					2																	7018277		2203	4300	6503	SO:0001630	splice_region_variant	91543				defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding	g.chr2:7018277G>A	AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.346+1G>A	2.37:g.7018277G>A							p.G116S	NM_080657	NP_542388	Q8WXG1	RSAD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.191)	1	482	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		116						Missense_Mutation	SNP	ENST00000382040.3	37	c.346G>A	CCDS1656.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.378505	0.82682	.	.	ENSG00000134321	ENST00000382040	D	0.95788	-3.81	5.51	5.51	0.81932	Elongator protein 3/MiaB/NifB (1);Radical SAM (1);	0.000000	0.85682	D	0.000000	D	0.98160	0.9392	M	0.89214	3.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98583	1.0651	10	0.72032	D	0.01	-29.4133	19.7916	0.96461	0.0:0.0:1.0:0.0	.	116	Q8WXG1	RSAD2_HUMAN	S	116	ENSP00000371471:G116S	ENSP00000371471:G116S	G	+	1	0	RSAD2	6935728	1.000000	0.71417	0.987000	0.45799	0.265000	0.26407	8.624000	0.90961	2.764000	0.94973	0.557000	0.71058	GGT		PASS	0.512	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206724.2	NM_080657	Missense_Mutation	4	32	4	32	---	---	---	---
NTSR2	23620	broad.mit.edu	37	2	11798693	11798693	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:11798693G>T	ENST00000306928.5	-	4	1179	c.1145C>A	c.(1144-1146)cCc>cAc	p.P382H		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	382					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)	p.P382H(1)		breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	CCGCTTCATGGGGTGGTGCTC	0.567																																						uc002rbq.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1144-1146)CCC>CAC		neurotensin receptor 2	Levocabastine(DB01106)						76.0	79.0	78.0					2																	11798693		2203	4300	6503	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11798693G>T	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.1145C>A	2.37:g.11798693G>T	ENSP00000303686:p.Pro382His						p.P382H	NM_012344	NP_036476	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	4	1219	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		382			Cytoplasmic (Potential).		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.1145C>A	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	G	9.644	1.139644	0.21205	.	.	ENSG00000169006	ENST00000306928	T	0.38240	1.15	4.14	-0.402	0.12404	.	.	.	.	.	T	0.21427	0.0516	N	0.19112	0.55	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.22487	-1.0215	9	0.37606	T	0.19	-4.6255	8.2124	0.31492	0.0:0.4756:0.3585:0.1659	.	382	O95665	NTR2_HUMAN	H	382	ENSP00000303686:P382H	ENSP00000303686:P382H	P	-	2	0	NTSR2	11716144	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	-0.420000	0.07062	0.089000	0.17243	0.655000	0.94253	CCC		PASS	0.567	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			11	86	11	86	---	---	---	---
MSGN1	343930	broad.mit.edu	37	2	17998202	17998202	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:17998202C>A	ENST00000281047.3	+	1	440	c.417C>A	c.(415-417)acC>acA	p.T139T		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	139	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell differentiation (GO:0030154)|segment specification (GO:0007379)|somitogenesis (GO:0001756)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.T139T(1)		NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GGATGAGGACCTTGGCAGATG	0.602																																					Melanoma(127;325 1712 14802 40657 49130)	uc010yjt.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(415-417)ACC>ACA		mesogenin 1							45.0	57.0	53.0					2																	17998202		2157	4243	6400	SO:0001819	synonymous_variant	343930				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:17998202C>A		CCDS42657.1	2p24.2	2007-07-23			ENSG00000151379	ENSG00000151379			14907	protein-coding gene	gene with protein product	"""paraxial mesogenin"""	612209				10837126	Standard	NM_001105569		Approved	pMesogenin1	uc010yjt.2	A6NI15	OTTHUMG00000159089	ENST00000281047.3:c.417C>A	2.37:g.17998202C>A							p.T139T	NM_001105569	NP_001099039	A6NI15	MSGN1_HUMAN			1	417	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		139			Helix-loop-helix motif.			Silent	SNP	ENST00000281047.3	37	c.417C>A	CCDS42657.1																																																																																				PASS	0.602	MSGN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353253.1	XM_292850		10	44	10	44	---	---	---	---
APOB	338	broad.mit.edu	37	2	21250815	21250815	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:21250815G>A	ENST00000233242.1	-	14	2079	c.1952C>T	c.(1951-1953)gCc>gTc	p.A651V	APOB_ENST00000399256.4_Missense_Mutation_p.A651V	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	651	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)	p.A651V(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTGGCTGAGGCTGGGTCAAG	0.398																																						uc002red.2																			1	Substitution - Missense(1)		lung(1)	ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)	27						c.(1951-1953)GCC>GTC		apolipoprotein B precursor	Atorvastatin(DB01076)						128.0	133.0	132.0					2																	21250815		2203	4300	6503	SO:0001583	missense	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21250815G>A	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1952C>T	2.37:g.21250815G>A	ENSP00000233242:p.Ala651Val						p.A651V	NM_000384	NP_000375	P04114	APOB_HUMAN			14	2080	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		651			Vitellogenin.		O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Missense_Mutation	SNP	ENST00000233242.1	37	c.1952C>T	CCDS1703.1	.	.	.	.	.	.	.	.	.	.	G	8.681	0.905237	0.17760	.	.	ENSG00000084674	ENST00000233242;ENST00000535079;ENST00000399256	T;T	0.12984	2.63;2.63	5.85	2.3	0.28687	Vitellinogen, open beta-sheet, subdomain 1 (1);Lipid transport protein, beta-sheet shell (1);Lipid transport protein, N-terminal (1);Vitellinogen, open beta-sheet (1);	0.810877	0.11143	N	0.595006	T	0.04182	0.0116	N	0.01576	-0.805	0.20703	N	0.999861	B	0.06786	0.001	B	0.10450	0.005	T	0.40720	-0.9548	10	0.02654	T	1	.	9.4732	0.38856	0.7745:0.0:0.2255:0.0	.	651	P04114	APOB_HUMAN	V	651	ENSP00000233242:A651V;ENSP00000382200:A651V	ENSP00000233242:A651V	A	-	2	0	APOB	21104320	0.987000	0.35691	0.309000	0.25155	0.822000	0.46500	2.836000	0.48183	0.230000	0.21059	-0.126000	0.14955	GCC		PASS	0.398	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			24	127	24	127	---	---	---	---
DNMT3A	1788	broad.mit.edu	37	2	25463181	25463181	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:25463181C>T	ENST00000264709.3	-	19	2649	c.2312G>A	c.(2311-2313)cGa>cAa	p.R771Q	DNMT3A_ENST00000380746.4_Missense_Mutation_p.R582Q|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R548Q|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000321117.5_Missense_Mutation_p.R771Q	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	771	SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation involved in gamete generation (GO:0043046)|DNA methylation on cytosine within a CG sequence (GO:0010424)|hypermethylation of CpG island (GO:0044027)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of gene expression by genetic imprinting (GO:0006349)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)|spermatogenesis (GO:0007283)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|euchromatin (GO:0000791)|nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|unmethylated CpG binding (GO:0045322)	p.R771Q(4)|p.R582Q(1)|p.R771L(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCGAGAAATCGCGAGATGTC	0.542			"""Mis, F, N, S"""		AML																																	uc002rgc.2				Rec	yes		2	2p23	1788	Mis|F|N|S	DNA (cytosine-5-)-methyltransferase 3 alpha			L			AML		6	Substitution - Missense(6)	p.R771L(1)	haematopoietic_and_lymphoid_tissue(4)|lung(2)	haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140						c.(2311-2313)CGA>CAA		DNA cytosine methyltransferase 3 alpha isoform							123.0	112.0	116.0					2																	25463181		2203	4300	6503	SO:0001583	missense	1788				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	g.chr2:25463181C>T		CCDS1718.2, CCDS33157.1, CCDS46232.1	2p23	2014-09-17			ENSG00000119772	ENSG00000119772			2978	protein-coding gene	gene with protein product		602769				9662389, 10433969	Standard	NM_175630		Approved		uc002rgc.4	Q9Y6K1	OTTHUMG00000094777	ENST00000264709.3:c.2312G>A	2.37:g.25463181C>T	ENSP00000264709:p.Arg771Gln					DNMT3A_uc002rgd.2_Missense_Mutation_p.R771Q|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.R582Q	p.R771Q	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN			19	2569	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		771					E9PEB8|Q86TE8|Q86XF5|Q8IZV0|Q8WXU9	Missense_Mutation	SNP	ENST00000264709.3	37	c.2312G>A	CCDS33157.1	.	.	.	.	.	.	.	.	.	.	C	33	5.260448	0.95368	.	.	ENSG00000119772	ENST00000380746;ENST00000321117;ENST00000264709;ENST00000402667	D;D;D;D	0.96491	-4.03;-4.03;-4.03;-4.03	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97576	0.9206	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	0.997;1.0	P;D	0.91635	0.888;0.999	D	0.98378	1.0557	10	0.87932	D	0	-1.5369	17.6755	0.88229	0.0:1.0:0.0:0.0	.	771;582	Q9Y6K1;E9PEB8	DNM3A_HUMAN;.	Q	582;771;771;548	ENSP00000370122:R582Q;ENSP00000324375:R771Q;ENSP00000264709:R771Q;ENSP00000384237:R548Q	ENSP00000264709:R771Q	R	-	2	0	DNMT3A	25316685	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.783000	0.85696	2.540000	0.85666	0.561000	0.74099	CGA		PASS	0.542	DNMT3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000211587.1	NM_022552		7	133	7	133	---	---	---	---
ASXL2	55252	broad.mit.edu	37	2	25965964	25965964	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:25965964G>A	ENST00000435504.4	-	13	3535	c.3242C>T	c.(3241-3243)tCa>tTa	p.S1081L	ASXL2_ENST00000272341.4_Intron|ASXL2_ENST00000404843.1_Intron|ASXL2_ENST00000336112.4_Missense_Mutation_p.S1053L			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	1081					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)	p.S1081L(2)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGGCACAACTGAGAGAAGATT	0.502																																						uc002rgs.2																			2	Substitution - Missense(2)		lung(2)	pancreas(1)	1						c.(3241-3243)TCA>TTA		additional sex combs like 2							140.0	136.0	137.0					2																	25965964		1974	4160	6134	SO:0001583	missense	55252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding	g.chr2:25965964G>A			2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.3242C>T	2.37:g.25965964G>A	ENSP00000391447:p.Ser1081Leu					ASXL2_uc002rgt.1_Intron	p.S1081L	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN			12	3463	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1081					Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	ENST00000435504.4	37	c.3242C>T		.	.	.	.	.	.	.	.	.	.	G	8.890	0.953838	0.18431	.	.	ENSG00000143970	ENST00000435504;ENST00000336112	T;T	0.25085	1.82;1.82	6.07	6.07	0.98685	.	0.643074	0.17142	N	0.185385	T	0.35624	0.0938	M	0.66939	2.045	0.32977	D	0.52308	P	0.43094	0.799	B	0.40901	0.343	T	0.51020	-0.8758	10	0.87932	D	0	-1.3109	19.2077	0.93739	0.0:0.0:1.0:0.0	.	1081	Q76L83	ASXL2_HUMAN	L	1081;1053	ENSP00000391447:S1081L;ENSP00000337250:S1053L	ENSP00000337250:S1053L	S	-	2	0	ASXL2	25819468	0.996000	0.38824	0.010000	0.14722	0.676000	0.39594	6.505000	0.73708	2.884000	0.98904	0.655000	0.94253	TCA		PASS	0.502	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000325593.3	NM_018263		24	109	24	109	---	---	---	---
GPR113	165082	broad.mit.edu	37	2	26534385	26534385	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:26534385C>T	ENST00000311519.1	-	11	2210	c.2211G>A	c.(2209-2211)caG>caA	p.Q737Q	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000541401.1_Silent_p.Q340Q|GPR113_ENST00000421160.2_Silent_p.Q668Q|GPR113_ENST00000333478.6_Silent_p.Q538Q	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	737	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q538Q(1)|p.Q737Q(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGGCCACCTGTGCCTGGC	0.607																																						uc002rhe.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)	4						c.(2209-2211)CAG>CAA		G-protein coupled receptor 113 isoform 1							79.0	88.0	85.0					2																	26534385		2203	4300	6503	SO:0001819	synonymous_variant	165082				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr2:26534385C>T	AB083619	CCDS33159.2, CCDS46238.1, CCDS46239.1	2p24.1	2014-08-08			ENSG00000173567	ENSG00000173567		"""-"", ""GPCR / Class B : Orphans"""	18989	protein-coding gene	gene with protein product						12435584	Standard	NM_153835		Approved	hGPCR37, PGR23	uc002rhe.4	Q8IZF5	OTTHUMG00000150225	ENST00000311519.1:c.2211G>A	2.37:g.26534385C>T						GPR113_uc010yky.1_Silent_p.Q668Q|GPR113_uc002rhb.1_Silent_p.Q340Q|GPR113_uc010eyk.1_Silent_p.Q538Q|GPR113_uc002rhc.1_Silent_p.Q340Q|GPR113_uc002rhd.1_RNA	p.Q737Q	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN			11	2211	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		737			GPS.|Extracellular (Potential).		B4DF15|E9PEV1|Q53TA5|Q6UXT7|Q6UXX3|Q86SL7|Q8IXD8|Q8TDT3	Silent	SNP	ENST00000311519.1	37	c.2211G>A	CCDS46239.1																																																																																				PASS	0.607	GPR113-004	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000316892.1	NM_153835		20	109	20	109	---	---	---	---
OTOF	9381	broad.mit.edu	37	2	26706386	26706386	+	Missense_Mutation	SNP	C	C	T	rs146086924		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:26706386C>T	ENST00000272371.2	-	13	1462	c.1336G>A	c.(1336-1338)Ggt>Agt	p.G446S	OTOF_ENST00000403946.3_Missense_Mutation_p.G446S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	446	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.G446S(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGTTTTCACCGATGAAAGCC	0.552																																					GBM(102;732 1451 20652 24062 31372)	uc002rhk.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|breast(2)|central_nervous_system(1)|pancreas(1)	7						c.(1336-1338)GGT>AGT		otoferlin isoform a		C	SER/GLY	0,4406		0,0,2203	92.0	81.0	85.0		1336	5.0	0.1	2	dbSNP_134	85	2,8598	2.2+/-6.3	0,2,4298	no	missense	OTOF	NM_194248.2	56	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	446/1998	26706386	2,13004	2203	4300	6503	SO:0001583	missense	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26706386C>T	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.1336G>A	2.37:g.26706386C>T	ENSP00000272371:p.Gly446Ser						p.G446S	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN			13	1463	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		446			Cytoplasmic (Potential).|C2 2.		B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	c.1336G>A	CCDS1725.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959912	0.92791	0.0	2.33E-4	ENSG00000115155	ENST00000272371;ENST00000403946	D;D	0.81739	-1.53;-1.53	5.04	5.04	0.67666	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.85418	0.5692	L	0.39692	1.235	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.83223	-0.0067	10	0.27785	T	0.31	-16.791	17.9794	0.89136	0.0:1.0:0.0:0.0	.	446	Q9HC10	OTOF_HUMAN	S	446	ENSP00000272371:G446S;ENSP00000385255:G446S	ENSP00000272371:G446S	G	-	1	0	OTOF	26559890	1.000000	0.71417	0.140000	0.22221	0.817000	0.46193	7.763000	0.85283	2.340000	0.79590	0.643000	0.83706	GGT		PASS	0.552	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			13	61	13	61	---	---	---	---
PLB1	151056	broad.mit.edu	37	2	28754978	28754978	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:28754978C>A	ENST00000327757.5	+	9	516	c.472C>A	c.(472-474)Ctt>Att	p.L158I	PLB1_ENST00000422425.2_Missense_Mutation_p.L158I	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	158	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)	p.L158I(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TATTCAGCAACTTGACTTTCA	0.408																																						uc002rmb.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|large_intestine(2)|skin(2)|breast(1)	9						c.(472-474)CTT>ATT		phospholipase B1 precursor							209.0	204.0	206.0					2																	28754978		2203	4300	6503	SO:0001583	missense	151056				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	g.chr2:28754978C>A		CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.472C>A	2.37:g.28754978C>A	ENSP00000330442:p.Leu158Ile					PLB1_uc010ezj.1_Missense_Mutation_p.L158I	p.L158I	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN			9	472	+	Acute lymphoblastic leukemia(172;0.155)		158			4 X 308-326 AA approximate repeats.|Extracellular (Potential).|1.		A8KAX2|Q53S03|Q8IUP7|Q96DP9	Missense_Mutation	SNP	ENST00000327757.5	37	c.472C>A	CCDS33168.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.90|10.90	1.480555|1.480555	0.26598|0.26598	.|.	.|.	ENSG00000163803|ENSG00000163803	ENST00000416713;ENST00000327757;ENST00000422425|ENST00000404858	T;T;T|.	0.18016|.	2.24;2.54;2.43|.	5.95|5.95	5.05|5.05	0.67936|0.67936	.|.	0.113089|.	0.39834|.	N|.	0.001259|.	T|T	0.50667|0.50667	0.1629|0.1629	N|N	0.20881|0.20881	0.62|0.62	0.80722|0.80722	D|D	1|1	P;B|.	0.46859|.	0.885;0.217|.	B;B|.	0.41374|.	0.355;0.085|.	T|T	0.39961|0.39961	-0.9588|-0.9588	10|5	0.02654|.	T|.	1|.	-19.4712|-19.4712	13.344|13.344	0.60561|0.60561	0.0:0.8432:0.1568:0.0|0.0:0.8432:0.1568:0.0	.|.	158;158|.	Q6P1J6-3;Q6P1J6|.	.;PLB1_HUMAN|.	I|K	102;158;158|156	ENSP00000407076:L102I;ENSP00000330442:L158I;ENSP00000416440:L158I|.	ENSP00000330442:L158I|.	L|N	+|+	1|3	0|2	PLB1|PLB1	28608482|28608482	1.000000|1.000000	0.71417|0.71417	0.985000|0.985000	0.45067|0.45067	0.593000|0.593000	0.36681|0.36681	0.620000|0.620000	0.24403|0.24403	2.819000|2.819000	0.97034|0.97034	0.650000|0.650000	0.86243|0.86243	CTT|AAC		PASS	0.408	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353348.2			31	236	31	236	---	---	---	---
LTBP1	4052	broad.mit.edu	37	2	33623585	33623585	+	Silent	SNP	T	T	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:33623585T>C	ENST00000404816.2	+	34	5492	c.5139T>C	c.(5137-5139)aaT>aaC	p.N1713N	LTBP1_ENST00000354476.3_Silent_p.N1714N|LTBP1_ENST00000407925.1_Silent_p.N1387N|LTBP1_ENST00000272273.5_Silent_p.N611N|LTBP1_ENST00000418533.2_Silent_p.N1345N|LTBP1_ENST00000390003.4_Silent_p.N1388N|LTBP1_ENST00000404525.1_Silent_p.N1334N|LTBP1_ENST00000402934.1_Silent_p.N1332N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1713					extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.N1714N(1)		breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CCGCCTTGAATTTAGAGAAAG	0.433																																						uc002ros.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)	8						c.(5140-5142)AAT>AAC		latent transforming growth factor beta binding							103.0	88.0	93.0					2																	33623585		2203	4300	6503	SO:0001819	synonymous_variant	4052				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity	g.chr2:33623585T>C		CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.5139T>C	2.37:g.33623585T>C						LTBP1_uc002rot.2_Silent_p.N1388N|LTBP1_uc002rou.2_Silent_p.N1387N|LTBP1_uc002rov.2_Silent_p.N1334N|LTBP1_uc010ymz.1_Silent_p.N1345N|LTBP1_uc010yna.1_Silent_p.N1292N|LTBP1_uc010ynb.1_Silent_p.N611N	p.N1714N	NM_206943	NP_996826	Q14766	LTBP1_HUMAN			34	5142	+	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)	1713					A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Silent	SNP	ENST00000404816.2	37	c.5142T>C	CCDS33177.2																																																																																				PASS	0.433	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326227.2	NM_206943		35	66	35	66	---	---	---	---
NRXN1	9378	broad.mit.edu	37	2	50723113	50723113	+	Silent	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:50723113G>T	ENST00000406316.2	-	15	4476	c.3000C>A	c.(2998-3000)ctC>ctA	p.L1000L	NRXN1_ENST00000401669.2_Silent_p.L1000L|NRXN1_ENST00000406859.3_Silent_p.L1000L|NRXN1_ENST00000405472.3_Silent_p.L992L|NRXN1_ENST00000401710.1_Silent_p.L9L|NRXN1_ENST00000404971.1_Silent_p.L1040L|NRXN1_ENST00000402717.3_Silent_p.L992L|NRXN1_ENST00000331040.5_5'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1000	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.L1041L(1)|p.L1040L(1)|p.L1000L(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTACAGTGTGGAGGTTGCTGG	0.448																																						uc010fbq.2																			3	Substitution - coding silent(3)		lung(3)	ovary(2)	2						c.(3118-3120)CTC>CTA		neurexin 1 isoform alpha2 precursor							207.0	190.0	195.0					2																	50723113		2080	4217	6297	SO:0001819	synonymous_variant	9378				angiogenesis|neuron cell-cell adhesion|neuronal signal transduction	cell surface|endocytic vesicle|integral to membrane|presynaptic membrane	cell adhesion molecule binding|receptor binding	g.chr2:50723113G>T	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.3000C>A	2.37:g.50723113G>T						NRXN1_uc002rxb.3_Silent_p.L672L|NRXN1_uc002rxe.3_Silent_p.L1000L|NRXN1_uc002rxc.1_RNA	p.L1040L	NM_001135659	NP_001129131	P58400	NRX1B_HUMAN	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)		15	4597	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	ENST00000406316.2	37	c.3120C>A	CCDS54360.1																																																																																				PASS	0.448	NRXN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000325291.2			4	45	4	45	---	---	---	---
ERLEC1	27248	broad.mit.edu	37	2	54014354	54014354	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:54014354G>A	ENST00000185150.4	+	1	138	c.7G>A	c.(7-9)Gaa>Aaa	p.E3K	GPR75-ASB3_ENST00000263634.3_5'Flank|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_5'Flank|ERLEC1_ENST00000494373.1_3'UTR|ERLEC1_ENST00000378239.5_Missense_Mutation_p.E3K|ERLEC1_ENST00000405123.3_Missense_Mutation_p.E3K|GPR75-ASB3_ENST00000394717.2_5'Flank|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	3					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)	p.E3K(1)		endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						GAGGATGGAGGAAGGAGGCGG	0.716																																						uc002rxl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(7-9)GAA>AAA		erlectin isoform 1							26.0	33.0	30.0					2																	54014354		2201	4300	6501	SO:0001583	missense	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54014354G>A	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.7G>A	2.37:g.54014354G>A	ENSP00000185150:p.Glu3Lys					ASB3_uc002rxg.1_5'Flank|ASB3_uc002rxh.1_5'Flank|ASB3_uc002rxi.3_Intron|ASB3_uc010yoo.1_5'Flank|ERLEC1_uc002rxm.2_Missense_Mutation_p.E3K|ERLEC1_uc002rxn.2_Missense_Mutation_p.E3K	p.E3K	NM_015701	NP_056516	Q96DZ1	ERLEC_HUMAN			1	287	+			3					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	c.7G>A	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	G	19.65	3.867674	0.72065	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.45668	0.89;0.89	4.5	4.5	0.54988	.	0.701107	0.12933	N	0.427216	T	0.39332	0.1074	.	.	.	0.32990	D	0.524812	B;B;B	0.24920	0.114;0.028;0.069	B;B;B	0.26416	0.032;0.043;0.069	T	0.52689	-0.8542	9	0.87932	D	0	-2.2759	15.1574	0.72755	0.0:0.0:1.0:0.0	.	3;3;3	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	K	3	ENSP00000385629:E3K;ENSP00000185150:E3K	ENSP00000185150:E3K	E	+	1	0	ERLEC1	53867858	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	3.335000	0.52105	2.312000	0.78011	0.555000	0.69702	GAA		PASS	0.716	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		4	26	4	26	---	---	---	---
WDPCP	51057	broad.mit.edu	37	2	63631244	63631244	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:63631244G>C	ENST00000272321.7	-	10	1901	c.1374C>G	c.(1372-1374)atC>atG	p.I458M	WDPCP_ENST00000409120.1_Missense_Mutation_p.I266M|WDPCP_ENST00000409199.1_Missense_Mutation_p.I266M|WDPCP_ENST00000409562.3_Missense_Mutation_p.I458M|WDPCP_ENST00000409835.1_5'UTR|WDPCP_ENST00000398544.3_Missense_Mutation_p.I299M	NM_015910.5	NP_056994.3	O95876	FRITZ_HUMAN	WD repeat containing planar cell polarity effector	458					auditory receptor cell morphogenesis (GO:0002093)|camera-type eye development (GO:0043010)|cardiovascular system development (GO:0072358)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|digestive system development (GO:0055123)|embryonic digit morphogenesis (GO:0042733)|establishment of protein localization (GO:0045184)|glomerular visceral epithelial cell migration (GO:0090521)|kidney development (GO:0001822)|palate development (GO:0060021)|regulation of embryonic cell shape (GO:0016476)|regulation of establishment of cell polarity (GO:2000114)|regulation of fibroblast migration (GO:0010762)|regulation of focal adhesion assembly (GO:0051893)|regulation of protein localization (GO:0032880)|regulation of ruffle assembly (GO:1900027)|respiratory system development (GO:0060541)|septin cytoskeleton organization (GO:0032185)|smoothened signaling pathway (GO:0007224)	axonemal basal plate (GO:0097541)|axoneme (GO:0005930)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)		p.I458M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(19)|ovary(1)|skin(1)	35						GGAGATCATAGATATCACTAC	0.393																																						uc002sch.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1372-1374)ATC>ATG		hypothetical protein LOC51057 isoform 2							102.0	96.0	98.0					2																	63631244		1887	4113	6000	SO:0001583	missense	51057				cilium morphogenesis|regulation of embryonic cell shape|regulation of protein localization|septin cytoskeleton organization	cilium axoneme|cytoplasm|cytoskeleton|plasma membrane		g.chr2:63631244G>C		CCDS42688.1, CCDS46301.1	2p15	2014-04-24	2011-02-01	2011-02-01	ENSG00000143951	ENSG00000143951			28027	protein-coding gene	gene with protein product		613580	"""chromosome 2 open reading frame 86"""	C2orf86		15654087, 20671153	Standard	NM_015910		Approved	hFrtz, fritz, BBS15	uc002sch.3	O95876	OTTHUMG00000152566	ENST00000272321.7:c.1374C>G	2.37:g.63631244G>C	ENSP00000272321:p.Ile458Met					C2orf86_uc002sce.2_RNA|C2orf86_uc002scf.2_Missense_Mutation_p.I299M|C2orf86_uc010ypu.1_RNA|C2orf86_uc002scg.2_Missense_Mutation_p.I266M|C2orf86_uc002sci.1_Missense_Mutation_p.I434M|C2orf86_uc010fcr.1_Missense_Mutation_p.I348M	p.I458M	NM_015910	NP_056994	O95876	FRITZ_HUMAN			10	1820	-			458					Q53RW4|Q7Z2Z3	Missense_Mutation	SNP	ENST00000272321.7	37	c.1374C>G	CCDS42688.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617999	0.28801	.	.	ENSG00000143951	ENST00000272321;ENST00000409199;ENST00000409120;ENST00000398544;ENST00000409562	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	5.52	2.46	0.29980	.	0.264344	0.38005	N	0.001855	T	0.49304	0.1549	M	0.63428	1.95	0.21878	N	0.999499	D;D;D;D	0.57257	0.973;0.963;0.979;0.967	P;P;P;P	0.59357	0.796;0.668;0.856;0.693	T	0.29305	-1.0016	10	0.37606	T	0.19	-0.6353	5.2385	0.15460	0.2916:0.0:0.5517:0.1566	.	266;458;458;299	E9PFG9;O95876-2;O95876;O95876-3	.;.;FRITZ_HUMAN;.	M	458;266;266;299;458	ENSP00000272321:I458M;ENSP00000386592:I266M;ENSP00000386769:I266M;ENSP00000381552:I299M;ENSP00000387222:I458M	ENSP00000272321:I458M	I	-	3	3	WDPCP	63484748	0.969000	0.33509	0.201000	0.23476	0.251000	0.25915	0.429000	0.21412	0.700000	0.31782	0.591000	0.81541	ATC		PASS	0.393	WDPCP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326820.1	NM_015910		32	134	32	134	---	---	---	---
UGP2	7360	broad.mit.edu	37	2	64112851	64112851	+	Nonsense_Mutation	SNP	T	T	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:64112851T>A	ENST00000337130.5	+	6	1180	c.704T>A	c.(703-705)tTg>tAg	p.L235*	UGP2_ENST00000445915.2_Nonsense_Mutation_p.L244*|UGP2_ENST00000394417.2_Nonsense_Mutation_p.L224*|UGP2_ENST00000487469.1_3'UTR|UGP2_ENST00000467648.2_Nonsense_Mutation_p.L224*|ACA59_ENST00000515966.1_RNA	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	235					carbohydrate metabolic process (GO:0005975)|cellular glucuronidation (GO:0052695)|glucose 1-phosphate metabolic process (GO:0019255)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	glucose binding (GO:0005536)|metal ion binding (GO:0046872)|pyrimidine ribonucleotide binding (GO:0032557)|UTP:glucose-1-phosphate uridylyltransferase activity (GO:0003983)	p.L235*(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						AACTCTGGATTGCTTGATACC	0.403																																						uc002scm.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(703-705)TTG>TAG		UDP-glucose pyrophosphorylase 2 isoform a							158.0	166.0	163.0					2																	64112851		2203	4300	6503	SO:0001587	stop_gained	7360				glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity	g.chr2:64112851T>A		CCDS1875.1, CCDS42690.1	2p14-p13	2012-10-02			ENSG00000169764	ENSG00000169764	2.7.7.9		12527	protein-coding gene	gene with protein product		191760	"""UDP-glucose pyrophosphorylase 1"""	UGP1			Standard	NM_006759		Approved	UGPP1	uc002scm.3	Q16851	OTTHUMG00000129513	ENST00000337130.5:c.704T>A	2.37:g.64112851T>A	ENSP00000338703:p.Leu235*					UGP2_uc002scl.2_Nonsense_Mutation_p.L224*|UGP2_uc010ypx.1_Nonsense_Mutation_p.L244*	p.L235*	NM_006759	NP_006750	Q16851	UGPA_HUMAN			6	1010	+			235					Q07131|Q0P6K2|Q86Y81|Q9BU15	Nonsense_Mutation	SNP	ENST00000337130.5	37	c.704T>A	CCDS1875.1	.	.	.	.	.	.	.	.	.	.	T	36	5.915588	0.97099	.	.	ENSG00000169764	ENST00000394417;ENST00000467648;ENST00000337130;ENST00000445915	.	.	.	5.8	5.8	0.92144	.	0.063737	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.3343	16.1461	0.81569	0.0:0.0:0.0:1.0	.	.	.	.	X	224;224;235;244	.	ENSP00000338703:L235X	L	+	2	0	UGP2	63966355	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.023000	0.88764	2.219000	0.72066	0.533000	0.62120	TTG		PASS	0.403	UGP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251688.1	NM_006759		49	176	49	176	---	---	---	---
PCYOX1	51449	broad.mit.edu	37	2	70486688	70486688	+	Silent	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:70486688C>G	ENST00000433351.2	+	2	337	c.309C>G	c.(307-309)gtC>gtG	p.V103V	PCYOX1_ENST00000264441.5_Silent_p.V103V|PCYOX1_ENST00000505044.2_Silent_p.V26V|PCYOX1_ENST00000545138.1_Silent_p.V25V	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	103					prenylated protein catabolic process (GO:0030327)|prenylcysteine catabolic process (GO:0030328)|prenylcysteine metabolic process (GO:0030329)	extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	chloride-transporting ATPase activity (GO:0008555)|prenylcysteine oxidase activity (GO:0001735)	p.V103V(1)		breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						AACGTTTTGTCAAAGACCTGG	0.473																																						uc002sgn.3																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(307-309)GTC>GTG		prenylcysteine oxidase 1 precursor							126.0	138.0	134.0					2																	70486688		2203	4300	6503	SO:0001819	synonymous_variant	51449				prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity	g.chr2:70486688C>G	AB020715	CCDS1902.1	2p13.3	2008-02-05			ENSG00000116005	ENSG00000116005	1.8.3.5		20588	protein-coding gene	gene with protein product		610995				10585463, 12186880	Standard	NM_016297		Approved	KIAA0908, PCL1	uc002sgn.4	Q9UHG3	OTTHUMG00000129671	ENST00000433351.2:c.309C>G	2.37:g.70486688C>G						PCYOX1_uc010fdo.2_Silent_p.V26V|PCYOX1_uc010yqu.1_Intron	p.V103V	NM_016297	NP_057381	Q9UHG3	PCYOX_HUMAN			2	375	+			103					B2RB14|B7Z9P8|O94982|Q8N4N5|Q96QM8	Silent	SNP	ENST00000433351.2	37	c.309C>G	CCDS1902.1																																																																																				PASS	0.473	PCYOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251872.3	NM_016297		48	177	48	177	---	---	---	---
DYSF	8291	broad.mit.edu	37	2	71780187	71780187	+	Nonsense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:71780187C>G	ENST00000258104.3	+	20	2076	c.1799C>G	c.(1798-1800)tCa>tGa	p.S600*	DYSF_ENST00000394120.2_Nonsense_Mutation_p.S601*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.S617*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.S632*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.S618*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.S600*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.S618*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.S631*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.S587*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.S601*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.S617*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	600					plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)	p.S600*(1)|p.S618*(1)		autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCTTCTACTCAGCCACCATG	0.567																																						uc002sie.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)|breast(2)|pancreas(1)|skin(1)	7						c.(1798-1800)TCA>TGA		dysferlin isoform 8							103.0	84.0	91.0					2																	71780187		2203	4300	6503	SO:0001587	stop_gained	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71780187C>G	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.1799C>G	2.37:g.71780187C>G	ENSP00000258104:p.Ser600*					DYSF_uc010feg.2_Nonsense_Mutation_p.S631*|DYSF_uc010feh.2_Nonsense_Mutation_p.S586*|DYSF_uc002sig.3_Nonsense_Mutation_p.S586*|DYSF_uc010yqx.1_RNA|DYSF_uc010fee.2_Nonsense_Mutation_p.S600*|DYSF_uc010fef.2_Nonsense_Mutation_p.S617*|DYSF_uc010fei.2_Nonsense_Mutation_p.S617*|DYSF_uc010fek.2_Nonsense_Mutation_p.S618*|DYSF_uc010fej.2_Nonsense_Mutation_p.S587*|DYSF_uc010fel.2_Nonsense_Mutation_p.S587*|DYSF_uc010feo.2_Nonsense_Mutation_p.S632*|DYSF_uc010fem.2_Nonsense_Mutation_p.S601*|DYSF_uc010fen.2_Nonsense_Mutation_p.S618*|DYSF_uc002sif.2_Nonsense_Mutation_p.S601*	p.S600*	NM_003494	NP_003485	O75923	DYSF_HUMAN			20	2175	+			600			Cytoplasmic (Potential).		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	c.1799C>G	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	42	9.779985	0.99261	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-11.1663	16.4751	0.84130	0.0:1.0:0.0:0.0	.	.	.	.	X	631;617;617;600;600;632;601;587;601;618;618	.	ENSP00000258104:S600X	S	+	2	0	DYSF	71633695	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	5.952000	0.70282	2.488000	0.83962	0.655000	0.94253	TCA		PASS	0.567	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		20	48	20	48	---	---	---	---
GCC2	9648	broad.mit.edu	37	2	109109244	109109244	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:109109244G>T	ENST00000309863.6	+	19	5159	c.4445G>T	c.(4444-4446)aGa>aTa	p.R1482I		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1482					Golgi ribbon formation (GO:0090161)|late endosome to Golgi transport (GO:0034499)|microtubule anchoring (GO:0034453)|microtubule organizing center organization (GO:0031023)|protein localization to Golgi apparatus (GO:0034067)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|recycling endosome to Golgi transport (GO:0071955)|regulation of protein exit from endoplasmic reticulum (GO:0070861)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	identical protein binding (GO:0042802)	p.R1482I(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CCGACCACAAGAAGTATGTAT	0.368																																						uc002tec.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(4444-4446)AGA>ATA		GRIP and coiled-coil domain-containing 2							83.0	83.0	83.0					2																	109109244		2203	4300	6503	SO:0001583	missense	9648				Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	g.chr2:109109244G>T	BC020645	CCDS33268.1	2q12.3	2008-02-05	2004-03-05		ENSG00000135968	ENSG00000135968			23218	protein-coding gene	gene with protein product		612711	"""GRIP and coiled-coil domain-containing 2"""			12446665	Standard	NM_181453		Approved	GCC185, KIAA0336	uc002tec.3	Q8IWJ2	OTTHUMG00000153214	ENST00000309863.6:c.4445G>T	2.37:g.109109244G>T	ENSP00000307939:p.Arg1482Ile					GCC2_uc002ted.2_Missense_Mutation_p.R1381I	p.R1482I	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN			19	4599	+			1482			Potential.		A6H8X8|O15045|Q4ZG46|Q8TDH3|Q9H2G8	Missense_Mutation	SNP	ENST00000309863.6	37	c.4445G>T	CCDS33268.1	.	.	.	.	.	.	.	.	.	.	G	15.65	2.895776	0.52121	.	.	ENSG00000135968	ENST00000309863	T	0.32272	1.46	5.63	2.84	0.33178	.	0.314820	0.36815	N	0.002392	T	0.25382	0.0617	M	0.63428	1.95	0.29716	N	0.839042	P	0.46395	0.877	B	0.38562	0.276	T	0.17899	-1.0354	10	0.37606	T	0.19	.	6.2727	0.20963	0.2709:0.122:0.6071:0.0	.	1482	Q8IWJ2	GCC2_HUMAN	I	1482	ENSP00000307939:R1482I	ENSP00000307939:R1482I	R	+	2	0	GCC2	108475676	1.000000	0.71417	0.535000	0.28026	0.840000	0.47671	2.342000	0.43992	0.396000	0.25283	0.655000	0.94253	AGA		PASS	0.368	GCC2-014	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358516.3	NM_014635		16	35	16	35	---	---	---	---
POTEF	728378	broad.mit.edu	37	2	130872872	130872872	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:130872872C>T	ENST00000409914.2	-	4	950	c.551G>A	c.(550-552)gGg>gAg	p.G184E	POTEF_ENST00000357462.5_Missense_Mutation_p.G184E|POTEF_ENST00000361163.4_Missense_Mutation_p.G184E|POTEF_ENST00000360967.5_Missense_Mutation_p.G184E	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	184					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.G184E(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTCTGAATTCCCATTGGCAGA	0.423																																						uc010fmh.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)	5						c.(550-552)GGG>GAG		prostate, ovary, testis expressed protein on							46.0	54.0	51.0					2																	130872872		2112	4043	6155	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130872872C>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.551G>A	2.37:g.130872872C>T	ENSP00000386786:p.Gly184Glu						p.G184E	NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN			4	951	-			184			ANK 1.		A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.551G>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	13.21	2.168409	0.38315	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;D	0.88124	0.0;0.0;0.0;-2.34	1.13	1.13	0.20643	Ankyrin repeat-containing domain (4);	0.000000	0.47852	D	0.000204	D	0.91405	0.7288	M	0.84326	2.69	0.44531	D	0.99748	D	0.76494	0.999	D	0.79784	0.993	D	0.89528	0.3783	10	0.87932	D	0	.	5.7247	0.18006	0.0:1.0:0.0:0.0	.	184	A5A3E0	POTEF_HUMAN	E	184	ENSP00000350052:G184E;ENSP00000386786:G184E;ENSP00000354232:G184E;ENSP00000355012:G184E	ENSP00000350052:G184E	G	-	2	0	POTEF	130589342	0.988000	0.35896	0.465000	0.27155	0.525000	0.34531	3.726000	0.54977	0.940000	0.37473	0.152000	0.16155	GGG		PASS	0.423	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		23	149	23	149	---	---	---	---
AMER3	205147	broad.mit.edu	37	2	131520908	131520908	+	Silent	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:131520908C>G	ENST00000423981.1	+	2	1373	c.1263C>G	c.(1261-1263)gcC>gcG	p.A421A	AMER3_ENST00000321420.4_Silent_p.A421A	NM_001105193.1|NM_001105194.1|NM_001105195.1|NM_152698.2	NP_001098663.1|NP_001098664.1|NP_001098665.1|NP_689911.2	Q8N944	AMER3_HUMAN	APC membrane recruitment protein 3	421					Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	lipid binding (GO:0008289)	p.A421A(1)									GTGGGGACGCCCTCTACGAGC	0.632																																						uc002trw.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(2)|ovary(1)	3						c.(1261-1263)GCC>GCG		hypothetical protein LOC205147							53.0	47.0	49.0					2																	131520908		2203	4300	6503	SO:0001819	synonymous_variant	205147							g.chr2:131520908C>G	AK095696	CCDS2164.1	2q21.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000178171	ENSG00000178171		"""-"""	26771	protein-coding gene	gene with protein product			"""family with sequence similarity 123C"""	FAM123C		20843316	Standard	NM_001105195		Approved	FLJ38377	uc002trw.2	Q8N944	OTTHUMG00000131637	ENST00000423981.1:c.1263C>G	2.37:g.131520908C>G						FAM123C_uc010fmv.2_Silent_p.A421A|FAM123C_uc010fms.1_Silent_p.A421A|FAM123C_uc010fmt.1_Silent_p.A421A|FAM123C_uc010fmu.1_Silent_p.A421A	p.A421A	NM_152698	NP_689911	Q8N944	F123C_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.13)	2	1453	+	Colorectal(110;0.1)		421					B7ZLH6	Silent	SNP	ENST00000423981.1	37	c.1263C>G	CCDS2164.1																																																																																				PASS	0.632	AMER3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254531.3	NM_152698		15	62	15	62	---	---	---	---
LCT	3938	broad.mit.edu	37	2	136548373	136548373	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:136548373C>G	ENST00000264162.2	-	15	5200	c.5190G>C	c.(5188-5190)agG>agC	p.R1730S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1730	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)	p.R1730S(1)		breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TCAGGATCCTCCTGAAGCCAA	0.483																																						uc002tuu.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|central_nervous_system(2)|skin(2)|pancreas(1)|lung(1)	13						c.(5188-5190)AGG>AGC		lactase-phlorizin hydrolase preproprotein							102.0	98.0	100.0					2																	136548373		2203	4300	6503	SO:0001583	missense	3938				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity	g.chr2:136548373C>G	X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.5190G>C	2.37:g.136548373C>G	ENSP00000264162:p.Arg1730Ser						p.R1730S	NM_002299	NP_002290	P09848	LPH_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	15	5201	-			1730			Extracellular (Potential).|4.|4 X approximate repeats.		Q4ZG58	Missense_Mutation	SNP	ENST00000264162.2	37	c.5190G>C	CCDS2178.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034555	0.75617	.	.	ENSG00000115850	ENST00000264162	T	0.36340	1.26	6.06	0.678	0.17969	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.86864	2.845	0.49687	D	0.999819	P	0.48162	0.906	P	0.62014	0.897	T	0.57522	-0.7797	10	0.87932	D	0	-30.9736	7.0762	0.25205	0.0:0.5091:0.1203:0.3706	.	1730	P09848	LPH_HUMAN	S	1730	ENSP00000264162:R1730S	ENSP00000264162:R1730S	R	-	3	2	LCT	136264843	0.963000	0.33076	1.000000	0.80357	0.998000	0.95712	0.106000	0.15354	0.456000	0.26937	0.655000	0.94253	AGG		PASS	0.483	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254657.1	NM_002299		19	83	19	83	---	---	---	---
LRP1B	53353	broad.mit.edu	37	2	141598560	141598560	+	Missense_Mutation	SNP	C	C	T	rs188652809		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:141598560C>T	ENST00000389484.3	-	30	6012	c.5041G>A	c.(5041-5043)Gat>Aat	p.D1681N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1681					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)	p.D1681N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAGAGCCATCTAGCCTTGCC	0.398										TSP Lung(27;0.18)			C|||	1	0.000199681	0.0	0.0014	5008	,	,		15270	0.0		0.0	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)	uc002tvj.1																			1	Substitution - Missense(1)		lung(1)	lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.(5041-5043)GAT>AAT		low density lipoprotein-related protein 1B							131.0	116.0	121.0					2																	141598560		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141598560C>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5041G>A	2.37:g.141598560C>T	ENSP00000374135:p.Asp1681Asn	TSP Lung(27;0.18)					p.D1681N	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	30	6013	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1681			Extracellular (Potential).|LDL-receptor class B 15.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.5041G>A	CCDS2182.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	31	5.069033	0.93950	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.92048	-2.96	5.44	5.44	0.79542	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	U	0.000000	D	0.94853	0.8337	L	0.55834	1.745	0.58432	D	0.999999	D	0.89917	1.0	D	0.83275	0.996	D	0.92949	0.6379	10	0.25751	T	0.34	.	19.2577	0.93952	0.0:1.0:0.0:0.0	.	1681	Q9NZR2	LRP1B_HUMAN	N	1681;1619	ENSP00000374135:D1681N	ENSP00000374135:D1681N	D	-	1	0	LRP1B	141315030	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.729000	0.84864	2.563000	0.86464	0.460000	0.39030	GAT		PASS	0.398	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		6	78	6	78	---	---	---	---
PKP4	8502	broad.mit.edu	37	2	159522953	159522953	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:159522953G>A	ENST00000389759.3	+	16	2718	c.2606G>A	c.(2605-2607)cGa>cAa	p.R869Q	PKP4_ENST00000389757.3_Missense_Mutation_p.R869Q|AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000495123.1_3'UTR	NM_003628.3	NP_003619.2	Q99569	PKP4_HUMAN	plakophilin 4	869					cell-cell junction assembly (GO:0007043)|cell-cell signaling (GO:0007267)|positive regulation of cytokinesis (GO:0032467)|positive regulation of gene expression (GO:0010628)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell adhesion (GO:0030155)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|desmosome (GO:0030057)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)		p.R869Q(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GCGGCCGTCCGAAAAGAAAAG	0.443										HNSCC(62;0.18)																												uc002tzv.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(2)	7						c.(2605-2607)CGA>CAA		plakophilin 4 isoform a							113.0	118.0	117.0					2																	159522953		2203	4300	6503	SO:0001583	missense	8502				cell adhesion	desmosome	protein binding	g.chr2:159522953G>A	X81889	CCDS33305.1, CCDS33306.1	2q24.1	2013-02-14			ENSG00000144283	ENSG00000144283		"""Armadillo repeat containing"""	9026	protein-coding gene	gene with protein product		604276				9342840, 8937994	Standard	NM_003628		Approved	p0071	uc002tzv.3	Q99569	OTTHUMG00000153969	ENST00000389759.3:c.2606G>A	2.37:g.159522953G>A	ENSP00000374409:p.Arg869Gln	HNSCC(62;0.18)				PKP4_uc002tzu.2_Missense_Mutation_p.R869Q|PKP4_uc002tzw.2_Missense_Mutation_p.R869Q|PKP4_uc002tzx.2_Missense_Mutation_p.R526Q|PKP4_uc002uaa.2_Missense_Mutation_p.R721Q|uc002uab.1_Intron|PKP4_uc002uac.2_Missense_Mutation_p.R50Q|PKP4_uc002uad.2_RNA|PKP4_uc002uae.1_5'Flank	p.R869Q	NM_003628	NP_003619	Q99569	PKP4_HUMAN			16	2866	+			869			ARM 8.		Q86W91	Missense_Mutation	SNP	ENST00000389759.3	37	c.2606G>A	CCDS33305.1	.	.	.	.	.	.	.	.	.	.	G	36	5.634141	0.96682	.	.	ENSG00000144283	ENST00000389757;ENST00000389759	T;T	0.69926	-0.44;-0.44	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.89904	3.07	0.80722	D	1	D;D;D	0.89917	0.986;1.0;1.0	P;D;D	0.87578	0.816;0.998;0.976	D	0.88331	0.2968	10	0.87932	D	0	-7.7539	19.5522	0.95324	0.0:0.0:1.0:0.0	.	824;869;869	Q4W5T8;Q99569-2;Q99569	.;.;PKP4_HUMAN	Q	869	ENSP00000374407:R869Q;ENSP00000374409:R869Q	ENSP00000374407:R869Q	R	+	2	0	PKP4	159231199	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.809000	0.99208	2.689000	0.91719	0.655000	0.94253	CGA		PASS	0.443	PKP4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333250.1			26	142	26	142	---	---	---	---
SCN1A	6323	broad.mit.edu	37	2	166908383	166908383	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:166908383C>T	ENST00000303395.4	-	6	809	c.810G>A	c.(808-810)atG>atA	p.M270I	AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.M270I|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.M270I|SCN1A_ENST00000423058.2_Missense_Mutation_p.M270I			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	270					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)	p.M270I(2)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCAGGTTGCCCATGAACAGCT	0.433																																						uc010zcz.1																			2	Substitution - Missense(2)		lung(2)	ovary(6)|skin(6)|large_intestine(1)	13						c.(808-810)ATG>ATA		sodium channel, voltage-gated, type I, alpha	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						98.0	98.0	98.0					2																	166908383		2203	4299	6502	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166908383C>T	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.810G>A	2.37:g.166908383C>T	ENSP00000303540:p.Met270Ile					SCN1A_uc002udo.3_Missense_Mutation_p.M139I|SCN1A_uc010fpk.2_Missense_Mutation_p.M139I	p.M270I	NM_006920	NP_008851	P35498	SCN1A_HUMAN			6	828	-			270			Helical; Name=S5 of repeat I; (By similarity).|I.		E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.810G>A	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	C	34	5.364982	0.95877	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.97352	-4.35;-4.35;-4.35;-4.35	5.41	5.41	0.78517	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98639	0.9544	M	0.86864	2.845	0.80722	D	1	D;D;D	0.56035	0.972;0.974;0.963	P;D;D	0.69824	0.805;0.92;0.966	D	0.99470	1.0945	10	0.87932	D	0	.	19.5538	0.95333	0.0:1.0:0.0:0.0	.	270;270;270	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	I	270	ENSP00000407030:M270I;ENSP00000303540:M270I;ENSP00000364554:M270I;ENSP00000386312:M270I	ENSP00000303540:M270I	M	-	3	0	SCN1A	166616629	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.726000	0.84824	2.688000	0.91661	0.655000	0.94253	ATG		PASS	0.433	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		15	89	15	89	---	---	---	---
XIRP2	129446	broad.mit.edu	37	2	168106459	168106459	+	Missense_Mutation	SNP	G	G	C	rs371556821		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:168106459G>C	ENST00000409195.1	+	9	8646	c.8557G>C	c.(8557-8559)Gtc>Ctc	p.V2853L	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.V2853L|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.V2631L|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2678					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.V2853L(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ACCAAAGGTCGTCAAGCAAAA	0.353																																						uc002udx.2																			1	Substitution - Missense(1)		lung(1)	skin(7)|ovary(6)|pancreas(1)	14						c.(8557-8559)GTC>CTC		xin actin-binding repeat containing 2 isoform 1							117.0	113.0	114.0					2																	168106459		1884	4113	5997	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106459G>C	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8557G>C	2.37:g.168106459G>C	ENSP00000386840:p.Val2853Leu					XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Missense_Mutation_p.V2678L|XIRP2_uc010fpq.2_Missense_Mutation_p.V2631L|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Missense_Mutation_p.V199L	p.V2853L	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8575	+			2678					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.8557G>C	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	G	4.505	0.093600	0.08632	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02656	4.21;4.21;4.22	6.02	1.3	0.21679	.	0.621929	0.16566	N	0.208845	T	0.03434	0.0099	L	0.60455	1.87	0.09310	N	1	B;B;B	0.11235	0.002;0.004;0.004	B;B;B	0.15052	0.005;0.012;0.012	T	0.42103	-0.9471	10	0.27082	T	0.32	-0.4657	6.5197	0.22269	0.3076:0.1134:0.579:0.0	.	2678;2678;2631	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	L	2853;2853;2631;267	ENSP00000386840:V2853L;ENSP00000295237:V2853L;ENSP00000387255:V2631L	ENSP00000295237:V2853L	V	+	1	0	XIRP2	167814705	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.235000	0.17948	-0.031000	0.13781	-1.686000	0.00732	GTC		PASS	0.353	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		23	108	23	108	---	---	---	---
DYNC1I2	1781	broad.mit.edu	37	2	172582502	172582502	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:172582502C>G	ENST00000397119.3	+	9	848	c.681C>G	c.(679-681)gaC>gaG	p.D227E	DYNC1I2_ENST00000534253.2_Missense_Mutation_p.D227E|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.D227E|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.D201E|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.D201E|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.D219E|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.D201E|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.D227E|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.D221E|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.D221E|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.D219E	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	227					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)	p.D227E(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			GTTTCTTTGACCATTCTACAA	0.353																																						uc002uha.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(679-681)GAC>GAG		dynein, cytoplasmic 1, intermediate chain 2							34.0	32.0	33.0					2																	172582502		1799	4061	5860	SO:0001583	missense	1781				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity	g.chr2:172582502C>G	AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.681C>G	2.37:g.172582502C>G	ENSP00000380308:p.Asp227Glu					DYNC1I2_uc002uhc.2_Missense_Mutation_p.D201E|DYNC1I2_uc002uhb.1_Missense_Mutation_p.D201E|DYNC1I2_uc010zds.1_Missense_Mutation_p.D219E|DYNC1I2_uc002uhd.1_Missense_Mutation_p.D221E|DYNC1I2_uc002uhe.1_Missense_Mutation_p.D227E|DYNC1I2_uc002uhf.1_Missense_Mutation_p.D201E|DYNC1I2_uc010zdt.1_Missense_Mutation_p.D219E|DYNC1I2_uc002uhg.1_Missense_Mutation_p.D142E|DYNC1I2_uc010zdu.1_5'Flank	p.D227E	NM_001378	NP_001369	Q13409	DC1I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.198)		9	846	+			227					B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Missense_Mutation	SNP	ENST00000397119.3	37	c.681C>G	CCDS46450.1	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437420	0.25900	.	.	ENSG00000077380	ENST00000452242;ENST00000340296;ENST00000534253;ENST00000263811;ENST00000397119;ENST00000410079;ENST00000508530;ENST00000409197;ENST00000409317;ENST00000409773;ENST00000409453;ENST00000358002;ENST00000435234	T;T;T;T;T;T;T;T;T;T;T	0.73152	-0.59;-0.72;-0.58;-0.52;-0.36;-0.37;-0.59;-0.58;-0.52;-0.38;-0.36	5.98	2.89	0.33648	.	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	N	0.20574	0.59	0.58432	D	0.999991	B;B;B;B;B	0.19200	0.034;0.008;0.008;0.008;0.034	B;B;B;B;B	0.23852	0.049;0.017;0.017;0.017;0.049	T	0.36335	-0.9752	10	0.06494	T	0.89	-17.3478	11.2038	0.48758	0.0:0.7463:0.0:0.2537	.	219;221;201;201;227	B7ZA04;Q13409-2;Q13409-6;Q13409-3;Q13409	.;.;.;.;DC1I2_HUMAN	E	221;201;227;221;227;219;201;201;221;227;227;219;201	ENSP00000339430:D201E;ENSP00000433791:D227E;ENSP00000263811:D221E;ENSP00000380308:D227E;ENSP00000386522:D219E;ENSP00000423339:D201E;ENSP00000386397:D201E;ENSP00000386591:D221E;ENSP00000386415:D227E;ENSP00000386886:D227E;ENSP00000350692:D219E	ENSP00000263811:D221E	D	+	3	2	DYNC1I2	172290748	0.998000	0.40836	1.000000	0.80357	0.996000	0.88848	0.684000	0.25364	0.874000	0.35823	-0.142000	0.14014	GAC		PASS	0.353	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333683.2	NM_001378		9	41	9	41	---	---	---	---
SLC25A12	8604	broad.mit.edu	37	2	172669850	172669850	+	Splice_Site	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:172669850C>A	ENST00000422440.2	-	11	1207	c.1170G>T	c.(1168-1170)agG>agT	p.R390S	SLC25A12_ENST00000392592.4_Splice_Site_p.R283S	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	390					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)	p.R390S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	CTTACTCACCCCTGTAGAGTC	0.433																																						uc002uhh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1168-1170)AGG>AGT		solute carrier family 25, member 12	L-Aspartic Acid(DB00128)						83.0	82.0	82.0					2																	172669850		2203	4300	6503	SO:0001630	splice_region_variant	8604				gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity|protein binding	g.chr2:172669850C>A	Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.1171+1G>T	2.37:g.172669850C>A						SLC25A12_uc010fqh.2_Missense_Mutation_p.R283S	p.R390S	NM_003705	NP_003696	O75746	CMC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		11	1259	-			390			Solcar 1.		B3KR64|Q96AM8	Missense_Mutation	SNP	ENST00000422440.2	37	c.1170G>T	CCDS33327.1	.	.	.	.	.	.	.	.	.	.	c	15.54	2.864476	0.51482	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	D;D	0.81499	-1.5;-1.5	5.21	-2.46	0.06461	Mitochondrial carrier domain (2);	0.100366	0.64402	D	0.000003	T	0.80481	0.4631	L	0.53249	1.67	0.58432	D	0.999991	P;P	0.44195	0.828;0.828	P;P	0.55508	0.777;0.777	T	0.75039	-0.3458	10	0.22109	T	0.4	-10.7649	11.4124	0.49933	0.0:0.2843:0.0:0.7157	.	283;390	B3KR64;O75746	.;CMC1_HUMAN	S	390;283	ENSP00000388658:R390S;ENSP00000376371:R283S	ENSP00000376371:R283S	R	-	3	2	SLC25A12	172378096	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	1.150000	0.31639	-0.346000	0.08312	0.484000	0.47621	AGG		PASS	0.433	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259010.2	NM_003705	Missense_Mutation	17	77	17	77	---	---	---	---
DLX2	1746	broad.mit.edu	37	2	172965551	172965551	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:172965551G>T	ENST00000234198.4	-	3	1068	c.707C>A	c.(706-708)tCa>tAa	p.S236*	DLX2_ENST00000466293.2_3'UTR|AC104801.1_ENST00000448117.1_lincRNA	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	236					brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|cartilage development (GO:0051216)|cerebral cortex GABAergic interneuron fate commitment (GO:0021893)|embryonic cranial skeleton morphogenesis (GO:0048701)|hippocampus development (GO:0021766)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis of dentin-containing tooth (GO:0042475)|olfactory bulb development (GO:0021772)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|subpallium development (GO:0021544)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded RNA binding (GO:0003727)	p.S236*(1)		endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGCCGGCGCTGAGACTGGCGG	0.701																																					GBM(188;775 2993 11256 23072)	uc002uhn.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(706-708)TCA>TAA		distal-less homeobox 2							13.0	14.0	13.0					2																	172965551		2133	4145	6278	SO:0001587	stop_gained	1746					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:172965551G>T	U51003	CCDS2248.1	2q31.1	2011-06-20	2005-12-22		ENSG00000115844	ENSG00000115844		"""Homeoboxes / ANTP class : NKL subclass"""	2915	protein-coding gene	gene with protein product		126255	"""distal-less homeo box 2"""			1354641	Standard	NM_004405		Approved	TES-1	uc002uhn.3	Q07687	OTTHUMG00000132276	ENST00000234198.4:c.707C>A	2.37:g.172965551G>T	ENSP00000234198:p.Ser236*						p.S236*	NM_004405	NP_004396	Q07687	DLX2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.216)		3	919	-			236					B4DMK4|B7ZA14	Nonsense_Mutation	SNP	ENST00000234198.4	37	c.707C>A	CCDS2248.1	.	.	.	.	.	.	.	.	.	.	g	37	6.074177	0.97256	.	.	ENSG00000115844	ENST00000234198	.	.	.	4.65	4.65	0.58169	.	0.145099	0.47455	D	0.000233	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.118	13.0188	0.58773	0.0:0.0:1.0:0.0	.	.	.	.	X	236	.	ENSP00000234198:S236X	S	-	2	0	DLX2	172673797	0.998000	0.40836	0.992000	0.48379	0.438000	0.31896	2.856000	0.48341	2.113000	0.64589	0.457000	0.33378	TCA		PASS	0.701	DLX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255368.3			12	18	12	18	---	---	---	---
ITGA6	3655	broad.mit.edu	37	2	173338886	173338886	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:173338886G>C	ENST00000264106.6	+	7	1199	c.996G>C	c.(994-996)aaG>aaC	p.K332N	ITGA6_ENST00000409532.1_Missense_Mutation_p.K174N|ITGA6_ENST00000264107.7_Missense_Mutation_p.K293N|ITGA6_ENST00000343713.4_Missense_Mutation_p.K288N|ITGA6_ENST00000409080.1_Missense_Mutation_p.K293N|ITGA6_ENST00000375221.2_Missense_Mutation_p.K332N			P23229	ITA6_HUMAN	integrin, alpha 6	332					amelogenesis (GO:0097186)|blood coagulation (GO:0007596)|brown fat cell differentiation (GO:0050873)|cell adhesion mediated by integrin (GO:0033627)|cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cell-substrate junction assembly (GO:0007044)|cellular response to extracellular stimulus (GO:0031668)|cellular response to organic cyclic compound (GO:0071407)|digestive tract development (GO:0048565)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|filopodium assembly (GO:0046847)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|nail development (GO:0035878)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|renal system development (GO:0072001)|single organismal cell-cell adhesion (GO:0016337)|skin development (GO:0043588)	basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|external side of plasma membrane (GO:0009897)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha6-beta4 complex (GO:0034676)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.K293N(2)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TTTTGCTGAAGAGAGACATGA	0.478																																						uc002uhp.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(877-879)AAG>AAC		integrin alpha chain, alpha 6 isoform a							146.0	138.0	141.0					2																	173338886		2203	4300	6503	SO:0001583	missense	3655				blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity	g.chr2:173338886G>C		CCDS2249.1, CCDS46451.1	2q31.1	2010-09-20			ENSG00000091409	ENSG00000091409		"""CD molecules"", ""Integrins"""	6142	protein-coding gene	gene with protein product		147556					Standard	NM_001079818		Approved	CD49f	uc002uhp.1	P23229	OTTHUMG00000132277	ENST00000264106.6:c.996G>C	2.37:g.173338886G>C	ENSP00000264106:p.Lys332Asn					ITGA6_uc010fqk.1_Missense_Mutation_p.K179N|ITGA6_uc010zdy.1_Missense_Mutation_p.K174N|ITGA6_uc002uho.1_Missense_Mutation_p.K293N|ITGA6_uc010fqm.1_5'Flank	p.K293N	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0979)		6	1082	+			332			FG-GAP 4.|Extracellular (Potential).		B2RMU9|B4DG69|B4DKB8|C4AM96|G5E9H1|Q08443|Q0MRC7|Q14646|Q16508|Q53RX7|Q59HB7|Q86VL6|Q9UCT1|Q9UN03	Missense_Mutation	SNP	ENST00000264106.6	37	c.879G>C		.	.	.	.	.	.	.	.	.	.	G	13.76	2.333652	0.41297	.	.	ENSG00000091409	ENST00000412899;ENST00000409532;ENST00000264107;ENST00000264106;ENST00000375221;ENST00000343713;ENST00000409080;ENST00000442250;ENST00000458358	T;T;T;T;T;T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59;-0.59	5.36	-2.29	0.06805	.	0.223517	0.47093	D	0.000247	T	0.60573	0.2279	N	0.04245	-0.25	0.30352	N	0.784637	P;D;P	0.58620	0.753;0.983;0.813	B;P;P	0.62885	0.406;0.908;0.679	T	0.65932	-0.6048	10	0.51188	T	0.08	.	12.5472	0.56206	0.5264:0.0:0.4736:0.0	.	288;293;293	P23229-4;G5E9H1;P23229-2	.;.;.	N	179;174;293;332;332;288;293;332;288	ENSP00000413470:K179N;ENSP00000386614:K174N;ENSP00000264107:K293N;ENSP00000264106:K332N;ENSP00000364369:K332N;ENSP00000341078:K288N;ENSP00000386896:K293N;ENSP00000406694:K332N;ENSP00000394169:K288N	ENSP00000264106:K332N	K	+	3	2	ITGA6	173047132	0.998000	0.40836	0.177000	0.23020	0.472000	0.32918	0.724000	0.25954	-0.479000	0.06813	-0.302000	0.09304	AAG		PASS	0.478	ITGA6-201	KNOWN	basic	protein_coding	protein_coding				25	57	25	57	---	---	---	---
COL3A1	1281	broad.mit.edu	37	2	189867042	189867042	+	Missense_Mutation	SNP	G	G	T	rs121912920		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:189867042G>T	ENST00000304636.3	+	35	2580	c.2410G>T	c.(2410-2412)Ggc>Tgc	p.G804C	COL3A1_ENST00000317840.5_Missense_Mutation_p.G804C	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	804	Triple-helical region.		G -> S (in EDS3). {ECO:0000269|PubMed:7833919}.		aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.G804C(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AGGTGAAACTGGCCCTCCAGG	0.438																																						uc002uqj.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(7)|ovary(4)|large_intestine(2)	13	GRCh37	CM940305	COL3A1	M	rs121912920	c.(2410-2412)GGC>TGC		collagen type III alpha 1 preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						130.0	123.0	125.0					2																	189867042		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189867042G>T	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2410G>T	2.37:g.189867042G>T	ENSP00000304408:p.Gly804Cys						p.G804C	NM_000090	NP_000081	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		35	2527	+			804		G -> S (in EDS3).	Triple-helical region.		D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.2410G>T	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861871	0.71949	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.99637	-6.29;-6.29	5.77	5.77	0.91146	.	0.000000	0.50627	D	0.000105	D	0.99840	0.9927	H	0.98466	4.24	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96779	0.9574	10	0.87932	D	0	.	19.9926	0.97371	0.0:0.0:1.0:0.0	.	804	P02461	CO3A1_HUMAN	C	804	ENSP00000304408:G804C;ENSP00000315243:G804C	ENSP00000304408:G804C	G	+	1	0	COL3A1	189575287	1.000000	0.71417	0.496000	0.27539	0.970000	0.65996	9.750000	0.98875	2.729000	0.93468	0.467000	0.42956	GGC		PASS	0.438	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		24	38	24	38	---	---	---	---
PMS1	5378	broad.mit.edu	37	2	190742031	190742031	+	Missense_Mutation	SNP	A	A	T	rs537745271		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:190742031A>T	ENST00000441310.2	+	13	2901	c.2668A>T	c.(2668-2670)Atg>Ttg	p.M890L	PMS1_ENST00000432292.3_Missense_Mutation_p.M714L|PMS1_ENST00000418224.3_Missense_Mutation_p.M714L|PMS1_ENST00000409823.3_Missense_Mutation_p.M851L|PMS1_ENST00000447232.2_Missense_Mutation_p.M728L	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	890					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)	MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|mismatched DNA binding (GO:0030983)|single-stranded DNA binding (GO:0003697)	p.M890L(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			ACAATTACCCATGTACTTATC	0.403			"""Mis, N"""			"""colorectal, endometrial, ovarian"""		Direct reversal of damage;Mismatch excision repair (MMR)					A|||	1	0.000199681	0.0	0.0	5008	,	,		18244	0.0		0.0	False		,,,				2504	0.001					uc002urh.3			yes	Rec		Hereditary non-polyposis colorectal cancer	2	2q31-q33	5378	Mis|N	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)			E		colorectal|endometrial|ovarian			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(1)|central_nervous_system(1)	4						c.(2668-2670)ATG>TTG	Direct_reversal_of_damage|MMR	postmeiotic segregation 1 isoform a							129.0	119.0	122.0					2																	190742031		2203	4300	6503	SO:0001583	missense	5378				mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	g.chr2:190742031A>T		CCDS2302.1, CCDS46473.1, CCDS46474.1, CCDS74615.1	2q31-q33	2014-09-17	2001-11-28		ENSG00000064933	ENSG00000064933			9121	protein-coding gene	gene with protein product		600258	"""postmeiotic segregation increased (S. cerevisiae) 1"""	PMSL1		8072530	Standard	NM_000534		Approved		uc002urh.4	P54277	OTTHUMG00000132664	ENST00000441310.2:c.2668A>T	2.37:g.190742031A>T	ENSP00000406490:p.Met890Leu					PMS1_uc002urk.3_Missense_Mutation_p.M851L|PMS1_uc002uri.3_Missense_Mutation_p.M728L|PMS1_uc010zgc.1_Missense_Mutation_p.M714L|PMS1_uc010zgd.1_Missense_Mutation_p.M714L|PMS1_uc002urj.2_RNA|PMS1_uc010frz.2_Missense_Mutation_p.M206L|PMS1_uc002url.2_Missense_Mutation_p.M513L|PMS1_uc002urm.2_RNA	p.M890L	NM_000534	NP_000525	P54277	PMS1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)		13	3197	+			890					D3DPI1|Q4VAL4|Q5FBZ3|Q5FBZ6|Q5FBZ8	Missense_Mutation	SNP	ENST00000441310.2	37	c.2668A>T	CCDS2302.1	.	.	.	.	.	.	.	.	.	.	A	5.594	0.294347	0.10567	.	.	ENSG00000064933	ENST00000441310;ENST00000418224;ENST00000409823;ENST00000447232;ENST00000432292;ENST00000409593	D;D;D;D;D;D	0.95821	-2.12;-1.76;-2.26;-2.67;-1.76;-3.82	5.87	3.45	0.39498	.	0.252228	0.46145	D	0.000312	D	0.82678	0.5089	N	0.02916	-0.46	0.31270	N	0.691894	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.001;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.0;0.001;0.0	T	0.74870	-0.3517	10	0.02654	T	1	-20.2265	7.2379	0.26079	0.6946:0.1118:0.0:0.1936	.	206;513;851;728;890	Q5FBZ4;Q5FBZ6;Q5FBZ3;Q5FBZ8;P54277	.;.;.;.;PMS1_HUMAN	L	890;714;851;728;714;513	ENSP00000406490:M890L;ENSP00000404492:M714L;ENSP00000387125:M851L;ENSP00000401064:M728L;ENSP00000398378:M714L;ENSP00000387169:M513L	ENSP00000387169:M513L	M	+	1	0	PMS1	190450276	0.671000	0.27521	1.000000	0.80357	0.981000	0.71138	0.811000	0.27198	2.371000	0.80710	0.533000	0.62120	ATG		PASS	0.403	PMS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255918.2			4	60	4	60	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196788444	196788444	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:196788444C>A	ENST00000312428.6	-	23	3800	c.3700G>T	c.(3700-3702)Gta>Tta	p.V1234L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1234	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.V1234L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCCAGAGTTACGCGATTCTGC	0.398																																						uc002utj.3																			1	Substitution - Missense(1)		lung(1)	skin(10)|ovary(2)	12						c.(3700-3702)GTA>TTA		dynein, axonemal, heavy chain 7							122.0	113.0	116.0					2																	196788444		1972	4163	6135	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196788444C>A	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.3700G>T	2.37:g.196788444C>A	ENSP00000311273:p.Val1234Leu						p.V1234L	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			23	3801	-			1234			Stem (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.3700G>T	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	8.385	0.838380	0.16891	.	.	ENSG00000118997	ENST00000312428	T	0.56776	0.44	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.36880	0.0983	N	0.16478	0.41	0.80722	D	1	B	0.15473	0.013	B	0.14578	0.011	T	0.23084	-1.0198	10	0.08599	T	0.76	.	18.7284	0.91724	0.0:1.0:0.0:0.0	.	1234	Q8WXX0	DYH7_HUMAN	L	1234	ENSP00000311273:V1234L	ENSP00000311273:V1234L	V	-	1	0	DNAH7	196496689	1.000000	0.71417	0.995000	0.50966	0.235000	0.25334	5.690000	0.68241	2.494000	0.84150	0.655000	0.94253	GTA		PASS	0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		14	63	14	63	---	---	---	---
ABCA12	26154	broad.mit.edu	37	2	215851337	215851337	+	Silent	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:215851337G>C	ENST00000272895.7	-	28	4311	c.4092C>G	c.(4090-4092)ctC>ctG	p.L1364L	ABCA12_ENST00000389661.4_Silent_p.L1046L	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1364	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.L1364L(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGTTCAGATTGAGGTTATCAA	0.428																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(4090-4092)CTC>CTG		ATP-binding cassette, sub-family A, member 12							89.0	84.0	86.0					2																	215851337		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215851337G>C	AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.4092C>G	2.37:g.215851337G>C						ABCA12_uc002vev.2_Silent_p.L1046L|ABCA12_uc010zjn.1_Silent_p.L291L	p.L1364L	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)	28	4312	-		Renal(323;0.127)	1364			ABC transporter 1.		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.4092C>G	CCDS33372.1																																																																																				PASS	0.428	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076		14	69	14	69	---	---	---	---
RNF25	64320	broad.mit.edu	37	2	219532650	219532650	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:219532650C>T	ENST00000295704.2	-	5	782	c.342G>A	c.(340-342)ctG>ctA	p.L114L		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	114	RWD. {ECO:0000255|PROSITE- ProRule:PRU00179}.				positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|NF-kappaB binding (GO:0051059)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L114L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGTTCATACAGCATGGCAG	0.502																																						uc002vit.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(340-342)CTG>CTA		ring finger protein 25							105.0	106.0	106.0					2																	219532650		2203	4300	6503	SO:0001819	synonymous_variant	64320				positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:219532650C>T		CCDS2420.1	2q35	2008-02-05			ENSG00000163481	ENSG00000163481		"""RING-type (C3HC4) zinc fingers"""	14662	protein-coding gene	gene with protein product						12748188	Standard	NM_022453		Approved	AO7, FLJ13906	uc002vit.3	Q96BH1	OTTHUMG00000133077	ENST00000295704.2:c.342G>A	2.37:g.219532650C>T						RNF25_uc010fvw.2_Silent_p.L2L	p.L114L	NM_022453	NP_071898	Q96BH1	RNF25_HUMAN		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	5	430	-		Renal(207;0.0474)	114			RWD.		A8K0D6|Q53HQ5|Q9H874	Silent	SNP	ENST00000295704.2	37	c.342G>A	CCDS2420.1																																																																																				PASS	0.502	RNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256721.1	NM_022453		83	102	83	102	---	---	---	---
FAM134A	79137	broad.mit.edu	37	2	220047133	220047133	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:220047133C>T	ENST00000430297.2	+	9	1550	c.1414C>T	c.(1414-1416)Cag>Tag	p.Q472*		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	472						integral component of membrane (GO:0016021)		p.Q472*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACCTGTTCCCCAGGACTCACC	0.622																																						uc002vjw.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1414-1416)CAG>TAG		hypothetical protein LOC79137							77.0	79.0	78.0					2																	220047133		2203	4300	6503	SO:0001587	stop_gained	79137					endoplasmic reticulum|integral to membrane		g.chr2:220047133C>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.1414C>T	2.37:g.220047133C>T	ENSP00000395249:p.Gln472*					FAM134A_uc010fwc.2_Nonsense_Mutation_p.Q265*|FAM134A_uc002vjx.2_Intron	p.Q472*	NM_024293	NP_077269	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	9	1550	+		Renal(207;0.0915)	472					Q6P1P5|Q9H0K7	Nonsense_Mutation	SNP	ENST00000430297.2	37	c.1414C>T	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	C	35	5.421142	0.96111	.	.	ENSG00000144567	ENST00000430297	.	.	.	5.26	5.26	0.73747	.	0.218603	0.38720	N	0.001583	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-15.7723	8.0641	0.30651	0.0:0.7038:0.2108:0.0854	.	.	.	.	X	472	.	.	Q	+	1	0	FAM134A	219755377	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	2.350000	0.44063	2.735000	0.93741	0.655000	0.94253	CAG		PASS	0.622	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		45	58	45	58	---	---	---	---
CUL3	8452	broad.mit.edu	37	2	225449700	225449700	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:225449700G>A	ENST00000264414.4	-	1	365	c.27C>T	c.(25-27)ggC>ggT	p.G9G	CUL3_ENST00000344951.4_Silent_p.G9G	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	9					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)	p.G9G(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CCTTCCGGCTGCCCGTGCCTT	0.716																																						uc002vny.2																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|liver(1)|kidney(1)	4						c.(25-27)GGC>GGT		cullin 3							36.0	34.0	35.0					2																	225449700		2202	4300	6502	SO:0001819	synonymous_variant	8452				cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding	g.chr2:225449700G>A	U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.27C>T	2.37:g.225449700G>A						CUL3_uc010zls.1_Silent_p.G9G	p.G9G	NM_003590	NP_003581	Q13618	CUL3_HUMAN		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)	1	411	-		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)	9					A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Silent	SNP	ENST00000264414.4	37	c.27C>T	CCDS2462.1																																																																																				PASS	0.716	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256871.2			4	14	4	14	---	---	---	---
SNED1	25992	broad.mit.edu	37	2	241988480	241988480	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:241988480G>A	ENST00000310397.8	+	11	1546	c.1546G>A	c.(1546-1548)Gat>Aat	p.D516N	AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000405547.3_Missense_Mutation_p.D516N|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000342631.6_Missense_Mutation_p.D516N|SNED1_ENST00000401884.1_Missense_Mutation_p.D516N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	516	Follistatin-like 2.				cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.D516N(1)		NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		ACAGTGCCCAGATGGGGGCTA	0.587																																						uc002wah.1																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(1546-1548)GAT>AAT		6720455I24Rik homolog precursor							34.0	39.0	37.0					2																	241988480		2046	4204	6250	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:241988480G>A	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.1546G>A	2.37:g.241988480G>A	ENSP00000308893:p.Asp516Asn						p.D516N	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	11	1546	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	516			Follistatin-like 2.		B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.1546G>A	CCDS46562.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.63|14.63	2.593832|2.593832	0.46214|0.46214	.|.	.|.	ENSG00000162804|ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631|ENST00000401644	D;D;D;D|.	0.82711|.	-1.57;-1.64;-1.61;-1.62|.	5.09|5.09	5.09|5.09	0.68999|0.68999	Follistatin-like, N-terminal (1);|.	0.000000|.	0.56097|.	D|.	0.000038|.	T|T	0.16557|0.16557	0.0398|0.0398	N|N	0.00224|0.00224	-1.81|-1.81	0.51482|0.51482	D|D	0.99992|0.99992	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.37103|0.37103	-0.9720|-0.9720	10|5	0.10902|.	T|.	0.67|.	.|.	18.1317|18.1317	0.89604|0.89604	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	516|.	Q8TER0|.	SNED1_HUMAN|.	N|K	516|212	ENSP00000384871:D516N;ENSP00000386007:D516N;ENSP00000308893:D516N;ENSP00000342992:D516N|.	ENSP00000308893:D516N|.	D|R	+|+	1|2	0|0	SNED1|SNED1	241637153|241637153	1.000000|1.000000	0.71417|0.71417	0.018000|0.018000	0.16275|0.16275	0.528000|0.528000	0.34623|0.34623	5.969000|5.969000	0.70422|0.70422	2.367000|2.367000	0.80283|0.80283	0.563000|0.563000	0.77884|0.77884	GAT|AGA		PASS	0.587	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		5	16	5	16	---	---	---	---
PASK	23178	broad.mit.edu	37	2	242075391	242075391	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:242075391G>T	ENST00000405260.1	-	8	1899	c.1201C>A	c.(1201-1203)Cag>Aag	p.Q401K	PASK_ENST00000234040.4_Missense_Mutation_p.Q401K|PASK_ENST00000358649.4_Missense_Mutation_p.Q401K|PASK_ENST00000403638.3_Missense_Mutation_p.Q401K|PASK_ENST00000544142.1_Missense_Mutation_p.Q215K|PASK_ENST00000539818.1_Missense_Mutation_p.Q185K	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	401	PAS 2. {ECO:0000255|PROSITE- ProRule:PRU00140}.				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)	p.Q401K(2)		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)		TCTGGGAGCTGTAATGAGCTG	0.557																																						uc002wao.1																			2	Substitution - Missense(2)		lung(2)	ovary(4)|lung(1)|skin(1)	6						c.(1201-1203)CAG>AAG		PAS domain containing serine/threonine kinase							145.0	144.0	144.0					2																	242075391		2203	4300	6503	SO:0001583	missense	23178				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	g.chr2:242075391G>T	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.1201C>A	2.37:g.242075391G>T	ENSP00000384016:p.Gln401Lys					PASK_uc010zol.1_Missense_Mutation_p.Q215K|PASK_uc010zom.1_Missense_Mutation_p.Q366K|PASK_uc010fzl.1_Missense_Mutation_p.Q401K|PASK_uc010zon.1_Missense_Mutation_p.Q182K|PASK_uc002wap.2_5'Flank|PASK_uc002waq.2_Missense_Mutation_p.Q401K	p.Q401K	NM_015148	NP_055963	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)	8	1293	-		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)	401			PAS 2.		G5E9F1|Q05BE4|Q68DY3|Q6GSJ5|Q86XH6|Q99763|Q9UFR7	Missense_Mutation	SNP	ENST00000405260.1	37	c.1201C>A	CCDS2545.1	.	.	.	.	.	.	.	.	.	.	G	4.541	0.100356	0.08731	.	.	ENSG00000115687	ENST00000234040;ENST00000544142;ENST00000405260;ENST00000358649;ENST00000539818;ENST00000403638	T;T;T;T;T;T	0.68903	-0.36;-0.35;-0.36;-0.31;-0.35;0.65	4.55	2.71	0.32032	PAS (1);	0.265900	0.26404	N	0.024561	T	0.45054	0.1323	N	0.24115	0.695	0.09310	N	1	P;P;P;P;P	0.41848	0.651;0.763;0.571;0.571;0.651	B;B;B;B;B	0.39027	0.15;0.288;0.21;0.21;0.15	T	0.33929	-0.9849	10	0.09843	T	0.71	.	8.4575	0.32908	0.1928:0.0:0.8072:0.0	.	366;215;401;401;401	B7Z7R6;F5GYW7;Q96RG2-2;G5E9F1;Q96RG2	.;.;.;.;PASK_HUMAN	K	401;215;401;401;185;401	ENSP00000234040:Q401K;ENSP00000441374:Q215K;ENSP00000384016:Q401K;ENSP00000351475:Q401K;ENSP00000443083:Q185K;ENSP00000384438:Q401K	ENSP00000234040:Q401K	Q	-	1	0	PASK	241724064	0.012000	0.17670	0.001000	0.08648	0.011000	0.07611	1.885000	0.39678	0.919000	0.36945	0.563000	0.77884	CAG		PASS	0.557	PASK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000323753.1	NM_015148		64	109	64	109	---	---	---	---
ANO7	50636	broad.mit.edu	37	2	242135205	242135205	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr2:242135205C>A	ENST00000274979.8	+	4	519	c.416C>A	c.(415-417)aCc>aAc	p.T139N	ANO7_ENST00000402430.3_Missense_Mutation_p.T138N|ANO7_ENST00000402530.3_Missense_Mutation_p.T138N	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	139					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)	p.T139N(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						ATGCACAGGACCTGGCGGGAG	0.607																																						uc002wax.2																			1	Substitution - Missense(1)		lung(1)	pancreas(2)|central_nervous_system(1)	3						c.(415-417)ACC>AAC		transmembrane protein 16G isoform NGEP long							112.0	100.0	104.0					2																	242135205		2203	4300	6503	SO:0001583	missense	50636					cell junction|chloride channel complex|cytosol	chloride channel activity	g.chr2:242135205C>A	AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.416C>A	2.37:g.242135205C>A	ENSP00000274979:p.Thr139Asn					ANO7_uc002waw.2_Missense_Mutation_p.T138N	p.T139N	NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN			4	519	+			139			Cytoplasmic (Potential).		Q6IWH6	Missense_Mutation	SNP	ENST00000274979.8	37	c.416C>A	CCDS33423.1	.	.	.	.	.	.	.	.	.	.	C	11.67	1.709344	0.30322	.	.	ENSG00000146205	ENST00000274979;ENST00000402530;ENST00000402430	T;T;T	0.67345	-0.26;0.89;-0.26	2.82	0.82	0.18793	.	1.329330	0.05201	N	0.504891	T	0.50599	0.1625	L	0.36672	1.1	0.09310	N	1	B;B	0.26081	0.031;0.141	B;B	0.19391	0.023;0.025	T	0.19549	-1.0302	10	0.19147	T	0.46	.	2.6104	0.04889	0.231:0.478:0.0:0.2911	.	139;138	Q6IWH7;Q6IWH7-2	ANO7_HUMAN;.	N	139;138;138	ENSP00000274979:T139N;ENSP00000383985:T138N;ENSP00000385418:T138N	ENSP00000274979:T139N	T	+	2	0	ANO7	241783878	0.000000	0.05858	0.164000	0.22755	0.753000	0.42808	-0.026000	0.12392	0.030000	0.15379	0.453000	0.30009	ACC		PASS	0.607	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323509.1	NM_001001891		10	55	10	55	---	---	---	---
WNT7A	7476	broad.mit.edu	37	3	13896073	13896073	+	Missense_Mutation	SNP	C	C	A	rs200065855		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:13896073C>A	ENST00000285018.4	-	3	830	c.526G>T	c.(526-528)Gcc>Tcc	p.A176S		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	176					asymmetric protein localization (GO:0008105)|canonical Wnt signaling pathway (GO:0060070)|cartilage condensation (GO:0001502)|cell fate commitment (GO:0045165)|cell proliferation in forebrain (GO:0021846)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system vasculogenesis (GO:0022009)|cerebellar granule cell differentiation (GO:0021707)|chondrocyte differentiation (GO:0002062)|dorsal/ventral pattern formation (GO:0009953)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|establishment of cell polarity (GO:0030010)|lens fiber cell development (GO:0070307)|negative regulation of apoptotic process (GO:0043066)|negative regulation of neurogenesis (GO:0050768)|neuron differentiation (GO:0030182)|neurotransmitter secretion (GO:0007269)|non-canonical Wnt signaling pathway (GO:0035567)|oviduct development (GO:0060066)|palate development (GO:0060021)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of JNK cascade (GO:0046330)|positive regulation of synapse assembly (GO:0051965)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of axon diameter (GO:0031133)|response to estradiol (GO:0032355)|sex differentiation (GO:0007548)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration (GO:0014834)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|stem cell development (GO:0048864)|synapse organization (GO:0050808)|uterus morphogenesis (GO:0061038)|Wnt signaling pathway involved in wound healing, spreading of epidermal cells (GO:0035659)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cytokine activity (GO:0005125)|frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)|receptor binding (GO:0005102)	p.A176S(1)		NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						AGAGTCCGGGCATTCTGCTTG	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19459	0.0		0.0	False		,,,				2504	0.0					uc003bye.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(526-528)GCC>TCC		wingless-type MMTV integration site family,							126.0	140.0	135.0					3																	13896073		2203	4300	6503	SO:0001583	missense	7476				activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity	g.chr3:13896073C>A	D83175	CCDS2616.1	3p25	2008-07-18			ENSG00000154764	ENSG00000154764		"""Wingless-type MMTV integration sites"""	12786	protein-coding gene	gene with protein product	"""proto-oncogene Wnt7a protein"""	601570				8893824, 9161407	Standard	NM_004625		Approved		uc003bye.1	O00755	OTTHUMG00000129803	ENST00000285018.4:c.526G>T	3.37:g.13896073C>A	ENSP00000285018:p.Ala176Ser						p.A176S	NM_004625	NP_004616	O00755	WNT7A_HUMAN			3	831	-			176					Q96H90|Q9Y560	Missense_Mutation	SNP	ENST00000285018.4	37	c.526G>T	CCDS2616.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	18.89	3.718723	0.68844	.	.	ENSG00000154764	ENST00000285018	T	0.76186	-1.0	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.69797	0.3151	L	0.45137	1.4	0.80722	D	1	B	0.26672	0.156	B	0.28139	0.086	T	0.66114	-0.6004	10	0.33141	T	0.24	.	18.5613	0.91101	0.0:1.0:0.0:0.0	.	176	O00755	WNT7A_HUMAN	S	176	ENSP00000285018:A176S	ENSP00000285018:A176S	A	-	1	0	WNT7A	13871074	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.056000	0.71111	2.386000	0.81285	0.561000	0.74099	GCC		PASS	0.627	WNT7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252031.2	NM_004625		54	232	54	232	---	---	---	---
STT3B	201595	broad.mit.edu	37	3	31677540	31677540	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:31677540C>T	ENST00000295770.2	+	16	2674	c.2465C>T	c.(2464-2466)tCt>tTt	p.S822F		NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	822				S -> F (in Ref. 4; AAH15880). {ECO:0000305}.	co-translational protein modification (GO:0043686)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)	p.S822F(1)		autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						AAGAAAATATCTAAGAAGACT	0.368																																						uc011axe.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2464-2466)TCT>TTT		source of immunodominant MHC-associated							97.0	100.0	99.0					3																	31677540		2203	4300	6503	SO:0001583	missense	201595				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	g.chr3:31677540C>T	AK027789	CCDS2650.1	3p24.1	2013-03-06	2013-03-06		ENSG00000163527	ENSG00000163527	2.4.99.18		30611	protein-coding gene	gene with protein product	"""source of immunodominant MHC associated peptides"", ""dolichyl-diphosphooligosaccharide protein glycotransferase"""	608605	"""STT3, subunit of the oligosaccharyltransferase complex, homolog B (S. cerevisiae)"""			12887896, 12439619	Standard	XM_006713017		Approved	SIMP, FLJ90106, STT3-B	uc011axe.2	Q8TCJ2	OTTHUMG00000130673	ENST00000295770.2:c.2465C>T	3.37:g.31677540C>T	ENSP00000295770:p.Ser822Phe						p.S822F	NM_178862	NP_849193	Q8TCJ2	STT3B_HUMAN			16	2465	+			822	S -> F (in Ref. 3; AAH15880).				Q96JZ4|Q96KY7	Missense_Mutation	SNP	ENST00000295770.2	37	c.2465C>T	CCDS2650.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.116200	0.37339	.	.	ENSG00000163527	ENST00000295770	.	.	.	5.24	4.29	0.51040	.	0.435134	0.24271	N	0.039990	T	0.42200	0.1192	N	0.22421	0.69	0.37532	D	0.917951	B	0.26876	0.162	B	0.24541	0.054	T	0.49293	-0.8955	9	0.59425	D	0.04	-6.0419	11.3456	0.49559	0.3483:0.6517:0.0:0.0	.	822	Q8TCJ2	STT3B_HUMAN	F	822	.	ENSP00000295770:S822F	S	+	2	0	STT3B	31652544	1.000000	0.71417	0.985000	0.45067	0.964000	0.63967	1.858000	0.39408	2.831000	0.97527	0.650000	0.86243	TCT		PASS	0.368	STT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253166.2	NM_178862		13	48	13	48	---	---	---	---
PRSS42	339906	broad.mit.edu	37	3	46874683	46874683	+	Missense_Mutation	SNP	T	T	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:46874683T>G	ENST00000429665.1	-	3	384	c.385A>C	c.(385-387)Agt>Cgt	p.S129R	PRSS42_ENST00000447340.1_Missense_Mutation_p.S25R	NM_182702.1	NP_874361.1	Q7Z5A4	PRS42_HUMAN	protease, serine, 42	129	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				germ cell development (GO:0007281)|spermatogenesis (GO:0007283)	anchored component of plasma membrane (GO:0046658)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.S129R(1)		breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	8						ATCTTGACACTGTAATGGAAA	0.448																																						uc011bap.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(385-387)AGT>CGT		testis serine protease 2 precursor							76.0	76.0	76.0					3																	46874683		1912	4135	6047	SO:0001583	missense	339906				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr3:46874683T>G		CCDS46816.1	3p21.31	2010-05-07			ENSG00000178055	ENSG00000178055		"""Serine peptidases / Serine peptidases"""	30716	protein-coding gene	gene with protein product	"""testis serine protease 2"""					12838346	Standard	NM_182702		Approved	TESSP2	uc011bap.2	Q7Z5A4	OTTHUMG00000156496	ENST00000429665.1:c.385A>C	3.37:g.46874683T>G	ENSP00000401701:p.Ser129Arg					PRSS42_uc003cqj.2_Missense_Mutation_p.S25R	p.S129R	NM_182702	NP_874361	Q7Z5A4	PRS42_HUMAN			3	385	-			129			Peptidase S1.			Missense_Mutation	SNP	ENST00000429665.1	37	c.385A>C	CCDS46816.1	.	.	.	.	.	.	.	.	.	.	T	11.99	1.802845	0.31869	.	.	ENSG00000178055	ENST00000447340;ENST00000429665	D;D	0.87966	-2.32;-2.32	4.44	4.44	0.53790	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.894344	0.09399	N	0.807477	T	0.81074	0.4747	N	0.05306	-0.075	0.20563	N	0.999884	B;P	0.51351	0.168;0.944	B;P	0.51657	0.09;0.676	T	0.70630	-0.4819	10	0.39692	T	0.17	.	10.0163	0.42016	0.0:0.0:0.0:1.0	.	129;25	Q7Z5A4;C9JX34	PRS42_HUMAN;.	R	25;129	ENSP00000401581:S25R;ENSP00000401701:S129R	ENSP00000401701:S129R	S	-	1	0	PRSS42	46849687	0.017000	0.18338	0.194000	0.23346	0.396000	0.30629	0.723000	0.25939	1.857000	0.53885	0.418000	0.28097	AGT		PASS	0.448	PRSS42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344347.1	NM_182702		5	39	5	39	---	---	---	---
COL7A1	1294	broad.mit.edu	37	3	48605026	48605026	+	Missense_Mutation	SNP	T	T	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:48605026T>A	ENST00000328333.8	-	108	8134	c.8027A>T	c.(8026-8028)gAg>gTg	p.E2676V	COL7A1_ENST00000454817.1_Missense_Mutation_p.E2644V|COL7A1_ENST00000470076.1_5'Flank	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2676	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.E2676V(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATCAGGCCCTCCTTGCCAGG	0.637																																						uc003ctz.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|breast(3)|skin(3)|central_nervous_system(1)	11						c.(8026-8028)GAG>GTG		alpha 1 type VII collagen precursor							59.0	67.0	64.0					3																	48605026		2202	4299	6501	SO:0001583	missense	1294				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	g.chr3:48605026T>A	L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.8027A>T	3.37:g.48605026T>A	ENSP00000332371:p.Glu2676Val						p.E2676V	NM_000094	NP_000085	Q02388	CO7A1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	108	8028	-			2676			Triple-helical region.		Q14054|Q16507	Missense_Mutation	SNP	ENST00000328333.8	37	c.8027A>T	CCDS2773.1	.	.	.	.	.	.	.	.	.	.	T	13.67	2.305047	0.40795	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.93763	-3.28;-3.28	4.7	4.7	0.59300	.	0.000000	0.40385	N	0.001101	D	0.92401	0.7588	N	0.16037	0.36	0.40329	D	0.978907	D	0.89917	1.0	D	0.91635	0.999	D	0.92074	0.5667	10	0.33940	T	0.23	.	13.0475	0.58935	0.0:0.0:0.0:1.0	.	2676	Q02388	CO7A1_HUMAN	V	2676;2644	ENSP00000332371:E2676V;ENSP00000412569:E2644V	ENSP00000332371:E2676V	E	-	2	0	COL7A1	48580030	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	4.072000	0.57563	1.881000	0.54492	0.460000	0.39030	GAG		PASS	0.637	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257519.1	NM_000094		20	58	20	58	---	---	---	---
ACTR8	93973	broad.mit.edu	37	3	53914030	53914030	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:53914030C>T	ENST00000335754.3	-	2	330	c.230G>A	c.(229-231)cGa>cAa	p.R77Q	ACTR8_ENST00000482349.1_5'UTR|AC012467.1_ENST00000410956.1_RNA|ACTR8_ENST00000231909.7_5'Flank	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	77					chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mitotic nuclear division (GO:0007067)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|nucleus (GO:0005634)	ATP binding (GO:0005524)	p.R77Q(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		TTTGTGTCTTCGGGCAATGAC	0.478																																						uc003dhd.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(229-231)CGA>CAA		actin-related protein 8							208.0	193.0	198.0					3																	53914030		2203	4300	6503	SO:0001583	missense	93973				cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding	g.chr3:53914030C>T		CCDS2875.1	3p21.31	2011-07-06	2001-11-28		ENSG00000113812	ENSG00000113812		"""INO80 complex subunits"""	14672	protein-coding gene	gene with protein product	"""INO80 complex subunit N"""		"""ARP8 (actin-related protein 8, yeast) homolog"""			18163988, 16230350	Standard	NM_022899		Approved	INO80N	uc003dhd.3	Q9H981	OTTHUMG00000158279	ENST00000335754.3:c.230G>A	3.37:g.53914030C>T	ENSP00000336842:p.Arg77Gln					ACTR8_uc003dhb.2_5'Flank|ACTR8_uc003dhc.2_5'UTR	p.R77Q	NM_022899	NP_075050	Q9H981	ARP8_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)	2	289	-			77					B3KSW7|Q8N566|Q9H663	Missense_Mutation	SNP	ENST00000335754.3	37	c.230G>A	CCDS2875.1	.	.	.	.	.	.	.	.	.	.	C	35	5.534137	0.96460	.	.	ENSG00000113812	ENST00000335754	D	0.94758	-3.51	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.97126	0.9061	M	0.85462	2.755	0.80722	D	1	D	0.71674	0.998	P	0.61397	0.888	D	0.96407	0.9301	10	0.42905	T	0.14	5.0701	18.3138	0.90210	0.0:1.0:0.0:0.0	.	77	Q9H981	ARP8_HUMAN	Q	77	ENSP00000336842:R77Q	ENSP00000336842:R77Q	R	-	2	0	ACTR8	53889070	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.980000	0.76160	2.865000	0.98341	0.655000	0.94253	CGA		PASS	0.478	ACTR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350562.2	NM_022899		30	72	30	72	---	---	---	---
CCDC66	285331	broad.mit.edu	37	3	56651142	56651142	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:56651142G>A	ENST00000394672.3	+	14	1916	c.1846G>A	c.(1846-1848)Gac>Aac	p.D616N	CCDC66_ENST00000436465.2_Missense_Mutation_p.D616N|CCDC66_ENST00000326595.7_Missense_Mutation_p.D582N	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	616					post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|retinal rod cell development (GO:0046548)			p.D499N(1)|p.D616N(1)		breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TTTTTTAGATGACTTAAATAT	0.289																																						uc003dhz.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1846-1848)GAC>AAC		coiled-coil domain containing 66 isoform 1							34.0	34.0	34.0					3																	56651142		2203	4299	6502	SO:0001583	missense	285331							g.chr3:56651142G>A	AL832692	CCDS33770.2, CCDS46852.1	3p14.3	2006-03-27			ENSG00000180376	ENSG00000180376			27709	protein-coding gene	gene with protein product						14702039	Standard	NR_024460		Approved	DKFZp686C0433	uc003dhz.3	A2RUB6	OTTHUMG00000155748	ENST00000394672.3:c.1846G>A	3.37:g.56651142G>A	ENSP00000378167:p.Asp616Asn					CCDC66_uc003dhy.2_Missense_Mutation_p.D252N|CCDC66_uc003dhu.2_Missense_Mutation_p.D582N|CCDC66_uc003dhx.2_RNA|CCDC66_uc003dia.2_5'UTR	p.D616N	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)	14	1933	+			616					B3KWL8|Q4VC34|Q8N949	Missense_Mutation	SNP	ENST00000394672.3	37	c.1846G>A	CCDS46852.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.953040	0.73902	.	.	ENSG00000180376	ENST00000422222;ENST00000394672;ENST00000326595;ENST00000436465	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	5.7	3.9	0.45041	.	0.121630	0.52532	N	0.000062	T	0.26304	0.0642	M	0.68952	2.095	0.80722	D	1	B	0.27140	0.169	B	0.28553	0.091	T	0.04664	-1.0935	10	0.44086	T	0.13	-5.4942	7.7999	0.29168	0.1388:0.0:0.7307:0.1304	.	616	A2RUB6	CCD66_HUMAN	N	572;616;582;616	ENSP00000401451:D572N;ENSP00000378167:D616N;ENSP00000326050:D582N;ENSP00000404320:D616N	ENSP00000326050:D582N	D	+	1	0	CCDC66	56626182	1.000000	0.71417	0.980000	0.43619	0.803000	0.45373	2.003000	0.40844	0.868000	0.35678	0.655000	0.94253	GAC		PASS	0.289	CCDC66-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341473.1	NM_001012506		7	17	7	17	---	---	---	---
CADPS	8618	broad.mit.edu	37	3	62388831	62388831	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:62388831G>A	ENST00000383710.4	-	29	4156	c.3807C>T	c.(3805-3807)atC>atT	p.I1269I	CADPS_ENST00000283269.9_Silent_p.I1230I|CADPS_ENST00000357948.3_Silent_p.I1190I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1269	Mediates targeting and association with DCVs. {ECO:0000250}.				catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)	p.I1269I(1)|p.I1230I(1)		breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACCAGGTGCAGATCACGTTCA	0.408																																						uc003dll.2																			2	Substitution - coding silent(2)		lung(2)	central_nervous_system(2)|ovary(1)	3						c.(3805-3807)ATC>ATT		Ca2+-dependent secretion activator isoform 1							117.0	104.0	109.0					3																	62388831		2203	4300	6503	SO:0001819	synonymous_variant	8618				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding	g.chr3:62388831G>A	U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.3807C>T	3.37:g.62388831G>A						CADPS_uc003dlj.1_Silent_p.I224I|CADPS_uc003dlk.1_Silent_p.I717I|CADPS_uc003dlm.2_Silent_p.I1230I|CADPS_uc003dln.2_Silent_p.I1190I	p.I1269I	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)	29	4167	-		Lung SC(41;0.0452)	1269			Mediates targeting and association with DCVs (By similarity).		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Silent	SNP	ENST00000383710.4	37	c.3807C>T	CCDS46858.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.255333	0.22965	.	.	ENSG00000163618	ENST00000473635	.	.	.	5.46	3.54	0.40534	.	.	.	.	.	T	0.45716	0.1356	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44097	-0.9350	4	.	.	.	.	2.6381	0.04963	0.175:0.1532:0.5145:0.1573	.	.	.	.	F	261	.	.	S	-	2	0	CADPS	62363871	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.056000	0.30480	2.732000	0.93576	0.655000	0.94253	TCT		PASS	0.408	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351951.5	NM_003716, NM_183393, NM_183394		13	42	13	42	---	---	---	---
SYNPR	132204	broad.mit.edu	37	3	63601157	63601157	+	Silent	SNP	A	A	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:63601157A>G	ENST00000295894.5	+	5	1167	c.798A>G	c.(796-798)taA>taG	p.*266*	SYNPR_ENST00000478300.1_Silent_p.*286*|SYNPR_ENST00000479198.1_3'UTR|SYNPR_ENST00000460711.1_Silent_p.*277*|SYNPR_ENST00000465156.1_Silent_p.*202*	NM_144642.4	NP_653243.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	0						cell junction (GO:0030054)|integral component of synaptic vesicle membrane (GO:0030285)|neuron projection (GO:0043005)	transporter activity (GO:0005215)	p.*286*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		ATCAGATTTAACAGAGTAGCA	0.453																																					NSCLC(29;1052 1116 20025 32519)	uc003dlq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(796-798)TAA>TAG		synaptoporin isoform 2							51.0	52.0	52.0					3																	63601157		1885	4118	6003	SO:0001819	synonymous_variant	132204					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity	g.chr3:63601157A>G	AF411860	CCDS46859.1, CCDS46860.1	3p14.3	2011-07-28			ENSG00000163630	ENSG00000163630			16507	protein-coding gene	gene with protein product						8034131, 12974474	Standard	NM_144642		Approved	MGC26651, SPO	uc003dlp.3	Q8TBG9	OTTHUMG00000158699	ENST00000295894.5:c.798A>G	3.37:g.63601157A>G						SYNPR_uc003dlp.2_Silent_p.*286*|SYNPR_uc011bfk.1_RNA|SYNPR_uc011bfl.1_RNA|SYNPR_uc010hnt.2_Silent_p.*275*|SYNPR_uc011bfm.1_RNA	p.*266*	NM_144642	NP_653243	Q8TBG9	SYNPR_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)	5	1167	+			266					B2R675|G5E9W4	Silent	SNP	ENST00000295894.5	37	c.798A>G	CCDS46860.1																																																																																				PASS	0.453	SYNPR-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351787.1			8	43	8	43	---	---	---	---
PRICKLE2	166336	broad.mit.edu	37	3	64184592	64184592	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:64184592C>A	ENST00000295902.6	-	2	597	c.12G>T	c.(10-12)gtG>gtT	p.V4V	PRICKLE2-AS3_ENST00000473434.1_RNA|PRICKLE2_ENST00000564377.1_Silent_p.V60V	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	4					establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|neuron projection development (GO:0031175)	apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.V4V(1)		breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCAGCGGCATCACTGTCACCA	0.483																																						uc003dmf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|skin(1)	5						c.(10-12)GTG>GTT		prickle-like 2							138.0	106.0	117.0					3																	64184592		2203	4300	6503	SO:0001819	synonymous_variant	166336					cytoplasm|nuclear membrane	zinc ion binding	g.chr3:64184592C>A	AK127839	CCDS2902.1	3p14.3	2006-09-12	2006-09-12		ENSG00000163637	ENSG00000163637			20340	protein-coding gene	gene with protein product		608501	"""prickle-like 2 (Drosophila)"""			12525887	Standard	NM_198859		Approved	DKFZp686D143	uc003dmf.3	Q7Z3G6	OTTHUMG00000158789	ENST00000295902.6:c.12G>T	3.37:g.64184592C>A							p.V4V	NM_198859	NP_942559	Q7Z3G6	PRIC2_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)	2	598	-		Lung NSC(201;0.136)	4					Q0VF44	Silent	SNP	ENST00000295902.6	37	c.12G>T	CCDS2902.1																																																																																				PASS	0.483	PRICKLE2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352219.1	NM_198859		16	75	16	75	---	---	---	---
OR5K4	403278	broad.mit.edu	37	3	98073316	98073316	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:98073316C>G	ENST00000354924.2	+	1	619	c.619C>G	c.(619-621)Caa>Gaa	p.Q207E	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q207E(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AATACCAATTCAAATCTTTAC	0.333																																						uc011bgv.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(619-621)CAA>GAA		olfactory receptor, family 5, subfamily K,							81.0	83.0	82.0					3																	98073316		2203	4300	6503	SO:0001583	missense	403278				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98073316C>G		CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.619C>G	3.37:g.98073316C>G	ENSP00000347003:p.Gln207Glu						p.Q207E	NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN			1	619	+			207			Helical; Name=5; (Potential).			Missense_Mutation	SNP	ENST00000354924.2	37	c.619C>G	CCDS33802.1	.	.	.	.	.	.	.	.	.	.	C	8.576	0.881195	0.17467	.	.	ENSG00000196098	ENST00000354924	T	0.36699	1.24	5.06	4.19	0.49359	GPCR, rhodopsin-like superfamily (1);	0.387624	0.15892	U	0.239526	T	0.23727	0.0574	N	0.17674	0.51	0.26060	N	0.981363	B	0.20052	0.041	B	0.25405	0.06	T	0.17592	-1.0364	10	0.15499	T	0.54	-0.7637	11.5442	0.50683	0.0:0.913:0.0:0.087	.	207	A6NMS3	OR5K4_HUMAN	E	207	ENSP00000347003:Q207E	ENSP00000347003:Q207E	Q	+	1	0	OR5K4	99556006	0.000000	0.05858	1.000000	0.80357	0.979000	0.70002	-0.771000	0.04699	1.496000	0.48567	0.603000	0.83216	CAA		PASS	0.333	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1			7	52	7	52	---	---	---	---
GPR15	2838	broad.mit.edu	37	3	98251486	98251486	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:98251486C>A	ENST00000284311.3	+	1	744	c.609C>A	c.(607-609)acC>acA	p.T203T		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	203					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.T203T(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		TAATTTTCACCTTTTTTGTCC	0.448																																						uc011bgy.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(607-609)ACC>ACA		G protein-coupled receptor 15							161.0	149.0	153.0					3																	98251486		2203	4300	6503	SO:0001819	synonymous_variant	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251486C>A		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.609C>A	3.37:g.98251486C>A							p.T203T	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	1	609	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	203			Helical; Name=5; (Potential).		Q3MIL4|Q6ISN6	Silent	SNP	ENST00000284311.3	37	c.609C>A	CCDS2931.1																																																																																				PASS	0.448	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			37	78	37	78	---	---	---	---
GPR15	2838	broad.mit.edu	37	3	98251494	98251494	+	Missense_Mutation	SNP	T	T	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:98251494T>G	ENST00000284311.3	+	1	752	c.617T>G	c.(616-618)gTc>gGc	p.V206G		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	206					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.V206G(1)		endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ACCTTTTTTGTCCCTTTGTTG	0.433																																						uc011bgy.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(616-618)GTC>GGC		G protein-coupled receptor 15							161.0	150.0	153.0					3																	98251494		2203	4300	6503	SO:0001583	missense	2838					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:98251494T>G		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.617T>G	3.37:g.98251494T>G	ENSP00000284311:p.Val206Gly						p.V206G	NM_005290	NP_005281	P49685	GPR15_HUMAN		Lung(72;0.246)	1	617	+		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)	206			Helical; Name=5; (Potential).		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	ENST00000284311.3	37	c.617T>G	CCDS2931.1	.	.	.	.	.	.	.	.	.	.	T	12.59	1.985023	0.35036	.	.	ENSG00000154165	ENST00000284311	T	0.39592	1.07	4.92	0.603	0.17541	GPCR, rhodopsin-like superfamily (1);	0.787215	0.11053	N	0.604820	T	0.35595	0.0937	L	0.45581	1.43	0.49582	D	0.999808	B	0.29805	0.257	B	0.30782	0.12	T	0.26467	-1.0102	10	0.87932	D	0	-7.9774	8.8703	0.35311	0.0:0.177:0.0:0.8229	.	206	P49685	GPR15_HUMAN	G	206	ENSP00000284311:V206G	ENSP00000284311:V206G	V	+	2	0	GPR15	99734184	0.845000	0.29573	0.451000	0.26982	0.968000	0.65278	2.386000	0.44380	0.235000	0.21160	0.533000	0.62120	GTC		PASS	0.433	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358907.1			35	74	35	74	---	---	---	---
CPOX	1371	broad.mit.edu	37	3	98304461	98304461	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:98304461C>A	ENST00000264193.2	-	5	1214	c.996G>T	c.(994-996)cgG>cgT	p.R332R		NM_000097.5	NP_000088.3	P36551	HEM6_HUMAN	coproporphyrinogen oxidase	332					heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to arsenic-containing substance (GO:0046685)|response to insecticide (GO:0017085)|response to iron ion (GO:0010039)|response to lead ion (GO:0010288)|response to methylmercury (GO:0051597)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)	coproporphyrinogen oxidase activity (GO:0004109)|protein homodimerization activity (GO:0042803)|structural constituent of eye lens (GO:0005212)	p.R332R(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CACCAATGCCCCGCCGTTCTC	0.468																																					Esophageal Squamous(75;7 1223 22300 43648 48951)	uc003dsx.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(994-996)CGG>CGT		coproporphyrinogen oxidase precursor							93.0	102.0	99.0					3																	98304461		2203	4300	6503	SO:0001819	synonymous_variant	1371					mitochondrial intermembrane space	coproporphyrinogen oxidase activity|protein homodimerization activity	g.chr3:98304461C>A	BC017210	CCDS2932.1	3q12	2012-10-02		2004-01-30		ENSG00000080819	1.3.3.3		2321	protein-coding gene	gene with protein product	"""coproporphyria"""	612732	"""coproporphyrinogen oxidase (coproporphyria, harderoporphyria)"""	CPO		7757079, 8407975	Standard	NM_000097		Approved	CPX, HCP	uc003dsx.3	P36551		ENST00000264193.2:c.996G>T	3.37:g.98304461C>A							p.R332R	NM_000097	NP_000088	P36551	HEM6_HUMAN			5	1089	-			332					A8K275|B4DSD5|Q14060|Q53F08|Q8IZ45|Q96AF3	Silent	SNP	ENST00000264193.2	37	c.996G>T	CCDS2932.1																																																																																				PASS	0.468	CPOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358900.1	NM_000097		4	132	4	132	---	---	---	---
TBC1D23	55773	broad.mit.edu	37	3	100000667	100000667	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:100000667C>T	ENST00000394144.4	+	3	254	c.247C>T	c.(247-249)Cac>Tac	p.H83Y	TBC1D23_ENST00000344949.5_Missense_Mutation_p.H83Y|TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Missense_Mutation_p.S14L	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	83	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.				positive regulation of interleukin-6 production (GO:0032755)|regulation of inflammatory response (GO:0050727)|regulation of tumor necrosis factor production (GO:0032680)		Rab GTPase activator activity (GO:0005097)	p.H83Y(2)		breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						GAACACTATTCACAAAGATTG	0.353																																						uc003dtt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|liver(1)	2						c.(247-249)CAC>TAC		TBC1 domain family, member 23							133.0	128.0	130.0					3																	100000667		2203	4300	6503	SO:0001583	missense	55773					intracellular	Rab GTPase activator activity	g.chr3:100000667C>T	AK001908	CCDS2936.1, CCDS56265.1	3q12.2	2013-07-10			ENSG00000036054	ENSG00000036054			25622	protein-coding gene	gene with protein product						22312129	Standard	NM_001199198		Approved	FLJ11046	uc003dtt.4	Q9NUY8	OTTHUMG00000159067	ENST00000394144.4:c.247C>T	3.37:g.100000667C>T	ENSP00000377700:p.His83Tyr					TBC1D23_uc003dts.2_Missense_Mutation_p.H83Y	p.H83Y	NM_018309	NP_060779	Q9NUY8	TBC23_HUMAN			3	424	+			83			Rab-GAP TBC.		B9A6M5|Q8TCN8|Q8WUB7|Q96D90|Q9NV75	Missense_Mutation	SNP	ENST00000394144.4	37	c.247C>T	CCDS56265.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.028188|5.028188	0.93518|0.93518	.|.	.|.	ENSG00000036054|ENSG00000036054	ENST00000485687;ENST00000344949;ENST00000394144;ENST00000471098|ENST00000475134	T;T;T;T|T	0.11277|0.29917	2.79;2.79;2.79;2.79|1.55	5.41|5.41	5.41|5.41	0.78517|0.78517	Rab-GAP/TBC domain (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.48040|0.48040	0.1478|0.1478	L|L	0.59436|0.59436	1.845|1.845	0.37593|0.37593	D|D	0.920242|0.920242	D;D|.	0.59357|.	0.985;0.981|.	P;P|.	0.60012|.	0.867;0.791|.	T|T	0.44360|0.44360	-0.9333|-0.9333	9|6	.|.	.|.	.|.	.|.	19.1913|19.1913	0.93667|0.93667	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	83;83|.	Q9NUY8;Q9NUY8-2|.	TBC23_HUMAN;.|.	Y|L	91;83;83;69|14	ENSP00000417487:H91Y;ENSP00000340693:H83Y;ENSP00000377700:H83Y;ENSP00000418714:H69Y|ENSP00000418059:S14L	.|.	H|S	+|+	1|2	0|0	TBC1D23|TBC1D23	101483357|101483357	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	5.681000|5.681000	0.68175|0.68175	2.523000|2.523000	0.85059|0.85059	0.585000|0.585000	0.79938|0.79938	CAC|TCA		PASS	0.353	TBC1D23-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000353150.1	NM_018309		15	72	15	72	---	---	---	---
NFKBIZ	64332	broad.mit.edu	37	3	101574241	101574241	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:101574241G>A	ENST00000326172.5	+	8	1708	c.1593G>A	c.(1591-1593)gcG>gcA	p.A531A	NFKBIZ_ENST00000394054.2_Silent_p.A431A|NFKBIZ_ENST00000326151.5_Silent_p.A409A	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	531	Interaction with NFKB1/p50. {ECO:0000250}.				inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.A531A(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATCTGCAGGCGATTCAGAAGG	0.373																																						uc003dvp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(1591-1593)GCG>GCA		nuclear factor of kappa light polypeptide gene							124.0	126.0	125.0					3																	101574241		2203	4300	6503	SO:0001819	synonymous_variant	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101574241G>A	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.1593G>A	3.37:g.101574241G>A						NFKBIZ_uc003dvo.2_Silent_p.A431A|NFKBIZ_uc010hpo.2_Silent_p.A431A|NFKBIZ_uc003dvq.2_Silent_p.A409A	p.A531A	NM_031419	NP_113607	Q9BYH8	IKBZ_HUMAN			8	1708	+			531			Interaction with NFKB1/p50 (By similarity).|ANK 3.		B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Silent	SNP	ENST00000326172.5	37	c.1593G>A	CCDS2946.1																																																																																				PASS	0.373	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		28	57	28	57	---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108409675	108409675	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:108409675G>A	ENST00000361582.3	+	32	3788	c.3558G>A	c.(3556-3558)acG>acA	p.T1186T	DZIP3_ENST00000463306.1_Silent_p.T1186T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	1186					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T1186T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						CATGTCCAACGTGCAGACTCC	0.502																																						uc003dxd.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(3556-3558)ACG>ACA		DAZ interacting protein 3, zinc finger							146.0	131.0	136.0					3																	108409675		2203	4300	6503	SO:0001819	synonymous_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108409675G>A	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.3558G>A	3.37:g.108409675G>A						DZIP3_uc003dxf.1_Silent_p.T1186T|DZIP3_uc011bhm.1_Silent_p.T637T	p.T1186T	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN			32	3980	+			1186			RING-type; atypical.		B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Silent	SNP	ENST00000361582.3	37	c.3558G>A	CCDS2952.1																																																																																				PASS	0.502	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		30	92	30	92	---	---	---	---
MORC1	27136	broad.mit.edu	37	3	108723703	108723703	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:108723703C>G	ENST00000483760.1	-	19	2026	c.1983G>C	c.(1981-1983)tgG>tgC	p.W661C	MORC1_ENST00000232603.5_Missense_Mutation_p.W682C					MORC family CW-type zinc finger 1									p.W682*(1)|p.W682C(1)		breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						GTTGAGCTCTCCAGACAGTGG	0.368																																						uc003dxl.2																			2	Substitution - Nonsense(1)|Substitution - Missense(1)		lung(2)	ovary(3)|skin(3)|breast(2)	8						c.(2044-2046)TGG>TGC		MORC family CW-type zinc finger 1							166.0	185.0	179.0					3																	108723703		2203	4300	6503	SO:0001583	missense	27136				cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding	g.chr3:108723703C>G	AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1983G>C	3.37:g.108723703C>G	ENSP00000417282:p.Trp661Cys					MORC1_uc011bhn.1_Missense_Mutation_p.W661C	p.W682C	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN			20	2133	-			682						Missense_Mutation	SNP	ENST00000483760.1	37	c.2046G>C		.	.	.	.	.	.	.	.	.	.	C	1.792	-0.479280	0.04383	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06371	3.31;3.42	3.14	0.0123	0.14091	.	0.562152	0.13558	U	0.378968	T	0.02649	0.0080	N	0.08118	0	0.09310	N	1	B;B	0.12013	0.005;0.005	B;B	0.10450	0.005;0.005	T	0.42632	-0.9440	10	0.37606	T	0.19	6.573	1.6458	0.02761	0.2133:0.4509:0.2084:0.1274	.	661;682	E7ERX1;Q86VD1	.;MORC1_HUMAN	C	682;661	ENSP00000232603:W682C;ENSP00000417282:W661C	ENSP00000232603:W682C	W	-	3	0	MORC1	110206393	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.251000	0.18257	-0.008000	0.14320	0.305000	0.20034	TGG		PASS	0.368	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000353844.1			63	332	63	332	---	---	---	---
C3orf30	152405	broad.mit.edu	37	3	118865623	118865623	+	Missense_Mutation	SNP	G	G	A	rs139845696		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:118865623G>A	ENST00000295622.1	+	1	627	c.587G>A	c.(586-588)cGc>cAc	p.R196H	IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000354673.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	196								p.R196H(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAGATGGACCGCAGAATGTCT	0.517													G|||	1	0.000199681	0.0	0.0014	5008	,	,		23163	0.0		0.0	False		,,,				2504	0.0					uc003ecb.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(586-588)CGC>CAC		hypothetical protein LOC152405		G	HIS/ARG	2,4404	4.2+/-10.8	0,2,2201	101.0	104.0	103.0		587	-6.1	0.0	3	dbSNP_134	103	19,8581	12.6+/-44.7	0,19,4281	yes	missense	C3orf30	NM_152539.2	29	0,21,6482	AA,AG,GG		0.2209,0.0454,0.1615	probably-damaging	196/537	118865623	21,12985	2203	4300	6503	SO:0001583	missense	152405							g.chr3:118865623G>A	AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.587G>A	3.37:g.118865623G>A	ENSP00000295622:p.Arg196His					IGSF11_uc003eby.2_5'Flank|IGSF11_uc003ebz.2_5'Flank|IGSF11_uc010hqs.2_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R196H	p.R196H	NM_152539	NP_689752	Q96M34	CC030_HUMAN		GBM - Glioblastoma multiforme(114;0.222)	1	627	+			196					A1L4B7	Missense_Mutation	SNP	ENST00000295622.1	37	c.587G>A	CCDS2984.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	7.728	0.698526	0.15106	4.54E-4	0.002209	ENSG00000163424	ENST00000295622;ENST00000470341	T	0.25749	1.78	3.65	-6.08	0.02151	.	2.784810	0.00906	N	0.002412	T	0.16769	0.0403	N	0.14661	0.345	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.08055	0.001;0.003	T	0.23619	-1.0183	10	0.46703	T	0.11	2.7324	13.2561	0.60079	0.3741:0.0:0.6259:0.0	.	196;196	E9PFE5;Q96M34	.;CC030_HUMAN	H	196	ENSP00000295622:R196H	ENSP00000295622:R196H	R	+	2	0	C3orf30	120348313	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.277000	0.01160	-1.321000	0.02281	-0.492000	0.04666	CGC		PASS	0.517	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354838.1	NM_152539		29	113	29	113	---	---	---	---
GOLGB1	2804	broad.mit.edu	37	3	121414880	121414880	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:121414880C>A	ENST00000340645.5	-	13	4600	c.4475G>T	c.(4474-4476)cGa>cTa	p.R1492L	GOLGB1_ENST00000393667.3_Missense_Mutation_p.R1497L	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	1492					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.R1492Q(1)|p.R1492L(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TGCTTCTTTTCGGGAAATAAG	0.418																																						uc003eei.3																			2	Substitution - Missense(2)		large_intestine(1)|lung(1)	ovary(6)|breast(2)|skin(2)	10						c.(4474-4476)CGA>CTA		golgi autoantigen, golgin subfamily b,							180.0	190.0	186.0					3																	121414880		2203	4299	6502	SO:0001583	missense	2804				Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	g.chr3:121414880C>A	X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.4475G>T	3.37:g.121414880C>A	ENSP00000341848:p.Arg1492Leu					GOLGB1_uc010hrc.2_Missense_Mutation_p.R1497L|GOLGB1_uc003eej.3_Missense_Mutation_p.R1458L|GOLGB1_uc011bjm.1_Missense_Mutation_p.R1378L|GOLGB1_uc010hrd.1_Missense_Mutation_p.R1456L	p.R1492L	NM_004487	NP_004478	Q14789	GOGB1_HUMAN		GBM - Glioblastoma multiforme(114;0.0989)	13	4601	-			1492			Cytoplasmic (Potential).|Potential.		B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	ENST00000340645.5	37	c.4475G>T	CCDS3004.1	.	.	.	.	.	.	.	.	.	.	C	17.30	3.354327	0.61293	.	.	ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517	T;T;T	0.61627	1.31;1.29;0.09	6.02	6.02	0.97574	.	0.000000	0.53938	D	0.000047	T	0.73401	0.3582	M	0.75264	2.295	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;0.999;0.999;1.0	T	0.66972	-0.5788	10	0.07030	T	0.85	.	18.0346	0.89296	0.0:1.0:0.0:0.0	.	1417;1456;1497;1497;1492	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789	.;.;.;.;GOGB1_HUMAN	L	1492;1497;1456	ENSP00000341848:R1492L;ENSP00000377275:R1497L;ENSP00000418231:R1456L	ENSP00000341848:R1492L	R	-	2	0	GOLGB1	122897570	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.487000	0.81328	2.865000	0.98341	0.655000	0.94253	CGA		PASS	0.418	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000355159.1	NM_004487		56	287	56	287	---	---	---	---
PLXNA1	5361	broad.mit.edu	37	3	126747835	126747835	+	Splice_Site	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:126747835G>C	ENST00000393409.2	+	25	4669		c.e25-1		PLXNA1_ENST00000251772.4_Splice_Site	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1						axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.?(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCCTCCCCCAGAGTGGCGCCA	0.642																																						uc003ejg.2																			1	Unknown(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.e25-1		plexin A1							58.0	49.0	52.0					3																	126747835		2203	4300	6503	SO:0001630	splice_region_variant	5361				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity	g.chr3:126747835G>C	X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.4670-1G>C	3.37:g.126747835G>C						PLXNA1_uc003ejh.2_Splice_Site_p.E202_splice	p.E1534_splice	NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN		GBM - Glioblastoma multiforme(114;0.155)	25	4605	+									Splice_Site	SNP	ENST00000393409.2	37	c.4601_splice	CCDS33847.2	.	.	.	.	.	.	.	.	.	.	G	18.35	3.604834	0.66445	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	.	.	.	3.91	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.4526	0.83997	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLXNA1	128230525	1.000000	0.71417	1.000000	0.80357	0.856000	0.48823	9.583000	0.98217	2.181000	0.69327	0.467000	0.42956	.		PASS	0.642	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356451.1	NM_032242	Intron	8	26	8	26	---	---	---	---
RUVBL1	8607	broad.mit.edu	37	3	127806642	127806642	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:127806642C>A	ENST00000322623.5	-	9	1125	c.1026G>T	c.(1024-1026)gaG>gaT	p.E342D	RUVBL1_ENST00000417360.1_Missense_Mutation_p.E342D|RUVBL1_ENST00000480616.1_5'Flank|RUVBL1_ENST00000464873.1_Missense_Mutation_p.E282D	NM_003707.2	NP_003698.1	Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	342					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Ino80 complex (GO:0031011)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|DNA helicase activity (GO:0003678)	p.E342D(1)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		ATGTGATGTCCTCAGTGCCTC	0.488																																						uc003ekh.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1024-1026)GAG>GAT		RuvB-like 1							194.0	160.0	171.0					3																	127806642		2203	4300	6503	SO:0001583	missense	8607				cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	g.chr3:127806642C>A	AF070735	CCDS3047.1	3q21	2013-09-12	2013-09-12		ENSG00000175792	ENSG00000175792		"""INO80 complex subunits"", ""ATPases / AAA-type"""	10474	protein-coding gene	gene with protein product	"""pontin"", ""INO80 complex subunit H"""	603449	"""RuvB (E coli homolog)-like 1"", ""RuvB-like 1 (E. coli)"", ""RuvB-like AAA ATPase"""			9774387, 9588198	Standard	NM_003707		Approved	TIP49, NMP238, RVB1, TIP49a, Pontin52, ECP54, TIH1, Rvb1, INO80H	uc003ekh.3	Q9Y265	OTTHUMG00000159658	ENST00000322623.5:c.1026G>T	3.37:g.127806642C>A	ENSP00000318297:p.Glu342Asp					RUVBL1_uc003eke.2_Intron|RUVBL1_uc003ekf.2_Missense_Mutation_p.E282D|RUVBL1_uc010hss.2_Missense_Mutation_p.E342D	p.E342D	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN		GBM - Glioblastoma multiforme(114;0.181)	9	1130	-			342					B2R5S0|P82276|Q1KMR0|Q53HK5|Q53HL7|Q53Y27|Q9BSX9	Missense_Mutation	SNP	ENST00000322623.5	37	c.1026G>T	CCDS3047.1	.	.	.	.	.	.	.	.	.	.	C	8.284	0.816276	0.16607	.	.	ENSG00000175792	ENST00000464873;ENST00000322623;ENST00000417360;ENST00000478892	T;T;T	0.64085	-0.08;-0.07;0.34	4.97	4.97	0.65823	TIP49, C-terminal (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.29028	0.0721	N	0.01535	-0.81	0.58432	D	0.999999	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.001	T	0.27938	-1.0059	10	0.09338	T	0.73	-16.9881	9.1284	0.36830	0.0:0.8375:0.0:0.1625	.	342;342;282	Q9Y265-2;Q9Y265;E7ETR0	.;RUVB1_HUMAN;.	D	282;342;342;153	ENSP00000420738:E282D;ENSP00000318297:E342D;ENSP00000393755:E342D	ENSP00000318297:E342D	E	-	3	2	RUVBL1	129289332	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.567000	0.36407	2.294000	0.77228	0.591000	0.81541	GAG		PASS	0.488	RUVBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356728.2			4	73	4	73	---	---	---	---
COL6A5	256076	broad.mit.edu	37	3	130159395	130159395	+	Silent	SNP	A	A	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:130159395A>C	ENST00000432398.2	+	35	6707	c.6213A>C	c.(6211-6213)ccA>ccC	p.P2071P	COL6A5_ENST00000265379.6_Silent_p.P2071P	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2071	Nonhelical region.|VWFA 9. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.P2071P(1)|p.P110P(1)		endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						ATCTTTTTCCAGAAACACCCT	0.398																																						uc010htj.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(6211-6213)CCA>CCC		collagen, type XXIX, alpha 1							80.0	76.0	77.0					3																	130159395		1859	4099	5958	SO:0001819	synonymous_variant	256076				axon guidance|cell adhesion	collagen		g.chr3:130159395A>C	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6213A>C	3.37:g.130159395A>C						COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Silent_p.P110P	p.P2071P	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			35	6707	+			2071			VWFA 9.|Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37	c.6213A>C																																																																																					PASS	0.398	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		16	64	16	64	---	---	---	---
PXYLP1	92370	broad.mit.edu	37	3	140998308	140998308	+	Silent	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:140998308A>T	ENST00000286353.4	+	4	464	c.327A>T	c.(325-327)acA>acT	p.T109T	ACPL2_ENST00000502783.1_Silent_p.T71T|ACPL2_ENST00000393007.1_Silent_p.T93T|ACPL2_ENST00000504264.1_Silent_p.T92T|ACPL2_ENST00000508812.1_Silent_p.T100T|RP11-438D8.2_ENST00000507698.1_RNA|ACPL2_ENST00000393010.2_Silent_p.T109T	NM_001037172.1|NM_001282728.1	NP_001032249.1|NP_001269657.1	Q8TE99	PXYP1_HUMAN		109						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)	p.T109T(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						TTCCCAAAACAAAGCGACCAG	0.448											OREG0015847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003etu.2																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(325-327)ACA>ACT		acid phosphatase-like 2 precursor							155.0	136.0	142.0					3																	140998308		2203	4300	6503	SO:0001819	synonymous_variant	92370					extracellular region	acid phosphatase activity	g.chr3:140998308A>T																												ENST00000286353.4:c.327A>T	3.37:g.140998308A>T			OREG0015847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1660	ACPL2_uc003etv.2_Silent_p.T109T|ACPL2_uc011bna.1_Silent_p.T71T|ACPL2_uc011bnb.1_Silent_p.T92T	p.T109T	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN			6	626	+			109					D3DNF5|Q49AJ2|W0TR04	Silent	SNP	ENST00000286353.4	37	c.327A>T	CCDS3116.1																																																																																				PASS	0.448	ACPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359533.2			44	79	44	79	---	---	---	---
SLITRK3	22865	broad.mit.edu	37	3	164907140	164907140	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:164907140C>T	ENST00000475390.1	-	2	1922	c.1479G>A	c.(1477-1479)cgG>cgA	p.R493R	SLITRK3_ENST00000241274.3_Silent_p.R493R			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	493					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)		p.R493R(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCTGGATTTCCCGGATGACAT	0.488										HNSCC(40;0.11)																												uc003fej.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)	10						c.(1477-1479)CGG>CGA		slit and trk like 3 protein precursor							72.0	76.0	75.0					3																	164907140		2203	4300	6503	SO:0001819	synonymous_variant	22865					integral to membrane		g.chr3:164907140C>T	AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.1479G>A	3.37:g.164907140C>T		HNSCC(40;0.11)				SLITRK3_uc003fek.2_Silent_p.R493R	p.R493R	NM_014926	NP_055741	O94933	SLIK3_HUMAN			2	1923	-			493			LRR 10.|Extracellular (Potential).		Q1RMY6	Silent	SNP	ENST00000475390.1	37	c.1479G>A	CCDS3197.1																																																																																				PASS	0.488	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350126.1	NM_014926		5	57	5	57	---	---	---	---
ACTRT3	84517	broad.mit.edu	37	3	169487114	169487114	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:169487114G>T	ENST00000330368.2	-	1	569	c.195C>A	c.(193-195)ttC>ttA	p.F65L	RP11-816J6.3_ENST00000602879.1_RNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3	65						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)		p.F65L(1)									GGTACCTGATGAACAGCGAGC	0.701																																						uc003ffs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(193-195)TTC>TTA		actin related protein M1							13.0	15.0	15.0					3																	169487114		2159	4276	6435	SO:0001583	missense	84517					cytoplasm|cytoskeleton		g.chr3:169487114G>T	AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9		ENST00000330368.2:c.195C>A	3.37:g.169487114G>T	ENSP00000333037:p.Phe65Leu						p.F65L	NM_032487	NP_115876	Q9BYD9	ARPM1_HUMAN	Epithelial(2;4.03e-64)|all cancers(2;5.01e-59)|Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)		1	570	-	all_cancers(22;9.55e-22)|all_epithelial(15;2.04e-26)|all_lung(20;5.05e-16)|Lung NSC(18;2.19e-15)|Ovarian(172;0.000223)|Breast(254;0.197)		65					Q96IS0|Q96NJ0	Missense_Mutation	SNP	ENST00000330368.2	37	c.195C>A	CCDS3206.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.341961	0.41498	.	.	ENSG00000184378	ENST00000330368	D	0.94138	-3.36	4.33	3.46	0.39613	.	0.305675	0.23879	N	0.043675	D	0.83478	0.5263	N	0.03608	-0.345	0.23336	N	0.997881	B	0.06786	0.001	B	0.12156	0.007	T	0.76621	-0.2892	10	0.87932	D	0	.	11.5345	0.50628	0.0898:0.0:0.9102:0.0	.	65	Q9BYD9	ARPM1_HUMAN	L	65	ENSP00000333037:F65L	ENSP00000333037:F65L	F	-	3	2	AC078802.1	170969808	1.000000	0.71417	1.000000	0.80357	0.320000	0.28249	1.019000	0.30014	1.176000	0.42840	-0.266000	0.10368	TTC		PASS	0.701	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467797.1	NM_032487		8	19	8	19	---	---	---	---
USP13	8975	broad.mit.edu	37	3	179448430	179448430	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:179448430C>T	ENST00000263966.3	+	10	1658	c.1187C>T	c.(1186-1188)tCa>tTa	p.S396L	USP13_ENST00000482333.1_3'UTR|USP13_ENST00000496897.1_Missense_Mutation_p.S331L	NM_003940.2	NP_003931.2	Q92995	UBP13_HUMAN	ubiquitin specific peptidase 13 (isopeptidase T-3)	396	USP.				autophagy (GO:0006914)|cell proliferation (GO:0008283)|melanocyte differentiation (GO:0030318)|protein K63-linked deubiquitination (GO:0070536)|protein stabilization (GO:0050821)|regulation of autophagy (GO:0010506)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)	p.S396L(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	46	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)			GGCCTTCTCTCAGGCCAGTAT	0.418																																						uc003fkh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1186-1188)TCA>TTA		ubiquitin thiolesterase 13							55.0	52.0	53.0					3																	179448430		2203	4300	6503	SO:0001583	missense	8975				ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	g.chr3:179448430C>T	U75362	CCDS3235.1	3q26.2-q26.3	2008-04-11	2005-08-08		ENSG00000058056	ENSG00000058056		"""Ubiquitin-specific peptidases"""	12611	protein-coding gene	gene with protein product		603591	"""ubiquitin specific protease 13 (isopeptidase T-3)"""			12838346	Standard	NM_003940		Approved	IsoT-3	uc003fkh.3	Q92995	OTTHUMG00000157783	ENST00000263966.3:c.1187C>T	3.37:g.179448430C>T	ENSP00000263966:p.Ser396Leu					USP13_uc003fkf.2_Missense_Mutation_p.S396L	p.S396L	NM_003940	NP_003931	Q92995	UBP13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169)		10	1268	+	all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148)		396					A8K2S3|B4DYF3|D3DNS2|Q96B25	Missense_Mutation	SNP	ENST00000263966.3	37	c.1187C>T	CCDS3235.1	.	.	.	.	.	.	.	.	.	.	C	27.6	4.850030	0.91277	.	.	ENSG00000058056	ENST00000263966;ENST00000496897;ENST00000497155	T;T;T	0.34275	1.37;1.37;1.37	5.94	5.94	0.96194	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.70657	0.3249	M	0.91663	3.23	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75399	-0.3331	10	0.62326	D	0.03	-14.396	20.3593	0.98849	0.0:1.0:0.0:0.0	.	396;396	Q92995;A8K2S3	UBP13_HUMAN;.	L	396;331;42	ENSP00000263966:S396L;ENSP00000417146:S331L;ENSP00000420057:S42L	ENSP00000263966:S396L	S	+	2	0	USP13	180931124	1.000000	0.71417	0.992000	0.48379	0.575000	0.36095	7.487000	0.81328	2.807000	0.96579	0.591000	0.81541	TCA		PASS	0.418	USP13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349617.1			23	43	23	43	---	---	---	---
LAMP3	27074	broad.mit.edu	37	3	182871557	182871557	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:182871557C>G	ENST00000265598.3	-	2	927	c.672G>C	c.(670-672)aaG>aaC	p.K224N	LAMP3_ENST00000466939.1_Missense_Mutation_p.K200N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	224					cell proliferation (GO:0008283)|immune system process (GO:0002376)	alveolar lamellar body membrane (GO:0097233)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)		p.K224N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AAATTCCAGTCTTGACTGACG	0.547																																						uc003flh.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(670-672)AAG>AAC		lysosomal-associated membrane protein 3							106.0	100.0	102.0					3																	182871557		2203	4300	6503	SO:0001583	missense	27074				cell proliferation	integral to membrane|lysosomal membrane		g.chr3:182871557C>G	AB013924	CCDS3242.1	3q26.3-q27	2011-11-24			ENSG00000078081	ENSG00000078081		"""CD molecules"""	14582	protein-coding gene	gene with protein product		605883				9721848	Standard	NM_014398		Approved	LAMP, TSC403, DC-LAMP, DCLAMP, CD208	uc003flh.4	Q9UQV4	OTTHUMG00000158387	ENST00000265598.3:c.672G>C	3.37:g.182871557C>G	ENSP00000265598:p.Lys224Asn						p.K224N	NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)		2	896	-	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		224			Lumenal (Potential).		D3DNS4|O94781|Q8NEC8	Missense_Mutation	SNP	ENST00000265598.3	37	c.672G>C	CCDS3242.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.200493	0.58126	.	.	ENSG00000078081	ENST00000265598;ENST00000466939	T;T	0.33654	1.4;1.4	5.81	3.76	0.43208	.	0.496664	0.20344	N	0.094173	T	0.50650	0.1628	M	0.70595	2.14	0.09310	N	1	D	0.71674	0.998	D	0.66084	0.941	T	0.40572	-0.9556	10	0.56958	D	0.05	-5.1605	4.8001	0.13292	0.0:0.6439:0.225:0.1311	.	224	Q9UQV4	LAMP3_HUMAN	N	224;200	ENSP00000265598:K224N;ENSP00000418912:K200N	ENSP00000265598:K224N	K	-	3	2	LAMP3	184354251	0.420000	0.25457	0.430000	0.26722	0.035000	0.12851	0.331000	0.19733	1.429000	0.47314	0.655000	0.94253	AAG		PASS	0.547	LAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350863.1			28	107	28	107	---	---	---	---
SMCO1	255798	broad.mit.edu	37	3	196236461	196236461	+	Missense_Mutation	SNP	C	C	T	rs79673145		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr3:196236461C>T	ENST00000397537.2	-	2	286	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K		NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1	44						integral component of membrane (GO:0016021)		p.E44K(1)									CTATGATGTTCGAATTTCTGC	0.438																																						uc003fws.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(130-132)GAA>AAA		hypothetical protein LOC255798		G	LYS/GLU	0,3894		0,0,1947	195.0	179.0	184.0		130	3.7	1.0	3	dbSNP_131	184	1,8291		0,1,4145	no	missense	C3orf43	NM_001077657.1	56	0,1,6092	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	44/215	196236461	1,12185	1947	4146	6093	SO:0001583	missense	255798					integral to membrane		g.chr3:196236461C>T	AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 43"""	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.130G>A	3.37:g.196236461C>T	ENSP00000380671:p.Glu44Lys					C3orf43_uc003fwr.2_Missense_Mutation_p.E36K	p.E44K	NM_001077657	NP_001071125	Q147U7	CC043_HUMAN	Epithelial(36;2.13e-23)|all cancers(36;2e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00298)	2	287	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		44					B3KW20	Missense_Mutation	SNP	ENST00000397537.2	37	c.130G>A	CCDS43192.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	15.98	2.991347	0.54041	0.0	1.21E-4	ENSG00000214097	ENST00000397537	T	0.39592	1.07	5.48	3.7	0.42460	.	.	.	.	.	T	0.23806	0.0576	L	0.29908	0.895	0.21782	N	0.999544	P;P	0.42078	0.652;0.77	B;B	0.28232	0.087;0.087	T	0.04900	-1.0919	9	0.27082	T	0.32	-5.9478	9.0799	0.36545	0.0:0.7735:0.1487:0.0778	.	44;36	Q147U7;E9PGG7	CC043_HUMAN;.	K	44	ENSP00000380671:E44K	ENSP00000380671:E44K	E	-	1	0	C3orf43	197720858	0.998000	0.40836	0.992000	0.48379	0.211000	0.24417	0.956000	0.29202	1.330000	0.45394	-0.121000	0.15023	GAA		PASS	0.438	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340776.1	NM_001006109		28	64	28	64	---	---	---	---
ZNF595	152687	broad.mit.edu	37	4	59383	59383	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:59383G>C	ENST00000509152.2	+	2	249	c.64G>C	c.(64-66)Gac>Cac	p.D22H	ZNF595_ENST00000526473.2_Missense_Mutation_p.D22H|ZNF595_ENST00000339368.6_3'UTR			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	22	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D22H(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		GAAATGTCTGGACCCTGCCCA	0.413																																						uc003fzv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(64-66)GAC>CAC		zinc finger protein 595							364.0	396.0	386.0					4																	59383		2203	4300	6503	SO:0001583	missense	152687				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr4:59383G>C	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.64G>C	4.37:g.59383G>C	ENSP00000434858:p.Asp22His					ZNF595_uc003fzu.1_RNA|ZNF718_uc003fzt.3_Missense_Mutation_p.D22H|ZNF595_uc010iay.1_RNA|ZNF595_uc011bus.1_5'UTR|ZNF595_uc011but.1_Intron	p.D22H	NM_182524	NP_872330	Q7Z3I0	Q7Z3I0_HUMAN		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	220	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)	22						Missense_Mutation	SNP	ENST00000509152.2	37	c.64G>C		.	.	.	.	.	.	.	.	.	.	G	12.70	2.017517	0.35606	.	.	ENSG00000197701	ENST00000509152;ENST00000526473	T;T	0.02763	4.17;4.17	1.26	1.26	0.21427	Krueppel-associated box (8);	.	.	.	.	T	0.10981	0.0268	.	.	.	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.08249	-1.0731	8	0.87932	D	0	.	7.9738	0.30143	0.0:0.0:1.0:0.0	.	22;22	Q8IYB9;Q3SXZ3	ZN595_HUMAN;ZN718_HUMAN	H	22	ENSP00000434858:D22H;ENSP00000437878:D22H	ENSP00000434858:D22H	D	+	1	0	ZNF595	49383	0.981000	0.34729	0.001000	0.08648	0.013000	0.08279	3.097000	0.50251	0.655000	0.30866	0.484000	0.47621	GAC		PASS	0.413	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		36	491	36	491	---	---	---	---
TBC1D14	57533	broad.mit.edu	37	4	6995917	6995917	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:6995917G>A	ENST00000409757.4	+	4	974	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	TBC1D14_ENST00000448507.1_Missense_Mutation_p.E284K|TBC1D14_ENST00000410031.1_Missense_Mutation_p.E56K|AC097382.5_ENST00000441093.1_RNA|TBC1D14_ENST00000451522.2_Missense_Mutation_p.E4K|RN7SKP292_ENST00000365522.1_RNA	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	284					negative regulation of autophagy (GO:0010507)|recycling endosome to Golgi transport (GO:0071955)|regulation of autophagic vacuole assembly (GO:2000785)	autophagic vacuole (GO:0005776)|Golgi apparatus (GO:0005794)|recycling endosome (GO:0055037)	protein kinase binding (GO:0019901)|Rab GTPase activator activity (GO:0005097)	p.E269K(1)|p.E284K(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						ctaggaatatgaagacaaggc	0.448																																						uc011bwg.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)|pancreas(1)	2						c.(850-852)GAA>AAA		TBC1 domain family, member 14 isoform a							123.0	114.0	117.0					4																	6995917		2203	4300	6503	SO:0001583	missense	57533					intracellular	Rab GTPase activator activity	g.chr4:6995917G>A	AL833868	CCDS3394.2, CCDS47006.1, CCDS75104.1	4p16.1	2008-01-22			ENSG00000132405	ENSG00000132405			29246	protein-coding gene	gene with protein product		614855				10718198	Standard	NM_020773		Approved	KIAA1322	uc003gjs.4	Q9P2M4	OTTHUMG00000090493	ENST00000409757.4:c.850G>A	4.37:g.6995917G>A	ENSP00000386921:p.Glu284Lys					TBC1D14_uc003gjs.3_Missense_Mutation_p.E284K|TBC1D14_uc010idh.2_Missense_Mutation_p.E4K	p.E284K	NM_001113361	NP_001106832	Q9P2M4	TBC14_HUMAN			4	929	+			284					B9A6L5|D3DVT4|E9PAZ6|Q8IW15|Q8NDK3	Missense_Mutation	SNP	ENST00000409757.4	37	c.850G>A	CCDS3394.2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.982230	0.74474	.	.	ENSG00000132405	ENST00000448507;ENST00000409757;ENST00000410031;ENST00000451522	T;T;T;T	0.59772	0.24;0.24;0.24;3.31	5.43	5.43	0.79202	.	0.094616	0.64402	D	0.000001	T	0.64238	0.2580	L	0.50919	1.6	0.80722	D	1	B;P	0.52316	0.204;0.952	B;P	0.53062	0.133;0.717	T	0.60571	-0.7237	10	0.36615	T	0.2	-30.1833	16.7763	0.85551	0.0:0.0:1.0:0.0	.	4;284	Q9P2M4-2;Q9P2M4	.;TBC14_HUMAN	K	284;284;56;4	ENSP00000404041:E284K;ENSP00000386921:E284K;ENSP00000386343:E56K;ENSP00000388886:E4K	ENSP00000386921:E284K	E	+	1	0	TBC1D14	7046818	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.828000	0.92047	2.824000	0.97209	0.655000	0.94253	GAA		PASS	0.448	TBC1D14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206981.3	NM_020773		17	59	17	59	---	---	---	---
DEFB131	644414	broad.mit.edu	37	4	9452086	9452086	+	Splice_Site	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:9452086C>G	ENST00000334879.1	+	2	59	c.59C>G	c.(58-60)gCc>gGc	p.A20G		NM_001040448.2|NM_001242853.1	NP_001035538.2|NP_001229782.1	P59861	DB131_HUMAN	defensin, beta 131	20				A -> G (in Ref. 1; AAQ09523). {ECO:0000305}.	defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.A20G(1)		lung(2)	2						CTTTTTAAAGCCAGAAGCTTC	0.284																																						uc011bwt.1																			1	Substitution - Missense(1)		lung(1)		0						c.(58-60)GCC>GGC		defensin, beta 131 precursor							36.0	29.0	31.0					4																	9452086		1811	4066	5877	SO:0001630	splice_region_variant	644414				defense response to bacterium	extracellular region		g.chr4:9452086C>G	AF529414	CCDS43213.1	4p16.1	2010-03-30			ENSG00000186146	ENSG00000186146		"""Defensins, beta"""	18108	protein-coding gene	gene with protein product						11854508, 16033865, 12600824	Standard	NM_001040448		Approved	DEFB-31	uc011bwt.2	P59861	OTTHUMG00000160187	ENST00000334879.1:c.59-1C>G	4.37:g.9452086C>G							p.A20G	NM_001040448	NP_001035538	P59861	DB131_HUMAN			2	59	+			20	A -> G (in Ref. 1; AAQ09523).					Missense_Mutation	SNP	ENST00000334879.1	37	c.59C>G	CCDS43213.1	.	.	.	.	.	.	.	.	.	.	.	12.28	1.890013	0.33348	.	.	ENSG00000186146	ENST00000334879	.	.	.	0.42	0.42	0.16444	.	.	.	.	.	T	0.38026	0.1025	.	.	.	0.21147	N	0.999772	P	0.52463	0.953	P	0.53988	0.739	T	0.18808	-1.0325	6	.	.	.	.	2.8583	0.05578	0.0:0.6062:0.0:0.3938	.	20	P59861	DB131_HUMAN	G	20	.	.	A	+	2	0	DEFB131	9061184	0.031000	0.19500	0.574000	0.28523	0.185000	0.23345	-0.091000	0.11146	0.463000	0.27118	0.162000	0.16502	GCC		PASS	0.284	DEFB131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359607.1	NM_001040448	Missense_Mutation	5	32	5	32	---	---	---	---
CLRN2	645104	broad.mit.edu	37	4	17517048	17517048	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:17517048G>T	ENST00000511148.2	+	1	261	c.159G>T	c.(157-159)gaG>gaT	p.E53D		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	53						integral component of membrane (GO:0016021)		p.E53D(1)		breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CAGACAGAGAGCTGGTCAAGT	0.552																																						uc003gpg.1																			1	Substitution - Missense(1)		lung(1)		0						c.(157-159)GAG>GAT		clarin 2							102.0	102.0	102.0					4																	17517048		2000	4161	6161	SO:0001583	missense	645104					integral to membrane		g.chr4:17517048G>T		CCDS47032.1	4p15.32	2008-01-17			ENSG00000249581	ENSG00000249581			33939	protein-coding gene	gene with protein product						12080385	Standard	NM_001079827		Approved		uc003gpg.1	A0PK11	OTTHUMG00000160273	ENST00000511148.2:c.159G>T	4.37:g.17517048G>T	ENSP00000424711:p.Glu53Asp						p.E53D	NM_001079827	NP_001073296	A0PK11	CLRN2_HUMAN			1	261	+			53						Missense_Mutation	SNP	ENST00000511148.2	37	c.159G>T	CCDS47032.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521219	0.85600	.	.	ENSG00000249581	ENST00000511148	T	0.80994	-1.44	5.52	4.44	0.53790	.	0.000000	0.85682	D	0.000000	D	0.86847	0.6031	M	0.65498	2.005	0.50313	D	0.999868	D	0.76494	0.999	D	0.85130	0.997	D	0.84652	0.0701	10	0.32370	T	0.25	-30.4588	11.3944	0.49832	0.1129:0.0:0.8871:0.0	.	53	A0PK11	CLRN2_HUMAN	D	53	ENSP00000424711:E53D	ENSP00000424711:E53D	E	+	3	2	CLRN2	17126146	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.287000	0.65645	0.995000	0.38917	0.561000	0.74099	GAG		PASS	0.552	CLRN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359990.2	NM_001079827		11	47	11	47	---	---	---	---
PPARGC1A	10891	broad.mit.edu	37	4	23815388	23815388	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:23815388G>A	ENST00000264867.2	-	8	1837	c.1718C>T	c.(1717-1719)tCt>tTt	p.S573F	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	573	Arg/Ser-rich.|Mediates interaction with RNF34. {ECO:0000269|PubMed:22064484}.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.S573F(1)		central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CCTGTGTCGAGAAAAGGACCT	0.448																																					Esophageal Squamous(29;694 744 13796 34866 44181)	uc003gqs.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)|kidney(2)|skin(2)	8						c.(1717-1719)TCT>TTT		peroxisome proliferator-activated receptor							87.0	87.0	87.0					4																	23815388		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23815388G>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.1718C>T	4.37:g.23815388G>A	ENSP00000264867:p.Ser573Phe					PPARGC1A_uc003gqt.2_RNA|PPARGC1A_uc011bxp.1_RNA|PPARGC1A_uc010ier.1_RNA	p.S573F	NM_013261	NP_037393	Q9UBK2	PRGC1_HUMAN			8	1838	-		Breast(46;0.0503)	573			Arg/Ser-rich.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.1718C>T	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.160332	0.57368	.	.	ENSG00000109819	ENST00000264867	T	0.44881	0.91	6.16	6.16	0.99307	.	0.049922	0.85682	D	0.000000	T	0.49712	0.1573	M	0.72118	2.19	0.80722	D	1	P	0.43094	0.799	B	0.43575	0.424	T	0.36696	-0.9737	10	0.15499	T	0.54	-9.9153	20.8598	0.99761	0.0:0.0:1.0:0.0	.	573	Q9UBK2	PRGC1_HUMAN	F	573	ENSP00000264867:S573F	ENSP00000264867:S573F	S	-	2	0	PPARGC1A	23424486	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.986000	0.93492	2.937000	0.99478	0.650000	0.86243	TCT		PASS	0.448	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		15	41	15	41	---	---	---	---
KIAA1211	57482	broad.mit.edu	37	4	57182826	57182826	+	Missense_Mutation	SNP	C	C	A	rs560337366	byFrequency	TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:57182826C>A	ENST00000504228.1	+	6	3263	c.3158C>A	c.(3157-3159)cCt>cAt	p.P1053H	KIAA1211_ENST00000541073.1_Missense_Mutation_p.P1046H|KIAA1211_ENST00000264229.6_Missense_Mutation_p.P1053H			Q6ZU35	K1211_HUMAN	KIAA1211	1053								p.P1053H(1)		endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAAGAGAAACCTTCTCAAACA	0.597																																						uc003hbk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(3157-3159)CCT>CAT		hypothetical protein LOC57482							23.0	25.0	24.0					4																	57182826		1837	3972	5809	SO:0001583	missense	57482							g.chr4:57182826C>A	AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.3158C>A	4.37:g.57182826C>A	ENSP00000423366:p.Pro1053His					KIAA1211_uc010iha.2_Missense_Mutation_p.P1046H|KIAA1211_uc011bzz.1_Missense_Mutation_p.P963H|KIAA1211_uc003hbm.1_Missense_Mutation_p.P939H	p.P1053H	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN			8	3549	+	Glioma(25;0.08)|all_neural(26;0.101)		1053					Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	ENST00000504228.1	37	c.3158C>A	CCDS43230.1	.	.	.	.	.	.	.	.	.	.	C	9.326	1.059191	0.19987	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073	T;T;T	0.13089	2.62;2.62;2.67	4.97	2.33	0.28932	.	.	.	.	.	T	0.18882	0.0453	L	0.31294	0.92	0.09310	N	1	D;D;D	0.76494	0.999;0.996;0.996	D;P;P	0.63192	0.912;0.794;0.794	T	0.11060	-1.0603	9	0.42905	T	0.14	-1.5722	6.1436	0.20273	0.1389:0.6379:0.0:0.2232	.	1046;1046;1053	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	H	1053;1053;1046	ENSP00000264229:P1053H;ENSP00000423366:P1053H;ENSP00000444006:P1046H	ENSP00000264229:P1053H	P	+	2	0	KIAA1211	56877583	0.254000	0.23992	0.100000	0.21137	0.005000	0.04900	1.479000	0.35453	0.297000	0.22615	0.561000	0.74099	CCT		PASS	0.597	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362097.2	NM_020722		14	29	14	29	---	---	---	---
TECRL	253017	broad.mit.edu	37	4	65188436	65188436	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:65188436C>G	ENST00000381210.3	-	4	516	c.406G>C	c.(406-408)Gac>Cac	p.D136H	TECRL_ENST00000507440.1_Missense_Mutation_p.D136H|TECRL_ENST00000513125.1_5'Flank	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	136					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)	p.D136H(1)		endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						TGACCTAGGTCTGTAGCATAC	0.318																																						uc003hcv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(406-408)GAC>CAC		steroid 5 alpha-reductase 2-like 2							73.0	74.0	74.0					4																	65188436		2203	4300	6503	SO:0001583	missense	253017				lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors	g.chr4:65188436C>G	AL833108	CCDS33990.1	4q13.1	2009-07-21			ENSG00000205678	ENSG00000205678			27365	protein-coding gene	gene with protein product	"""glycoprotein, synaptic 2-like"""					12477932	Standard	NM_001010874		Approved	GPSN2L, SRD5A2L2, DKFZp313D0829, DKFZp313B2333, TERL	uc003hcv.3	Q5HYJ1	OTTHUMG00000160680	ENST00000381210.3:c.406G>C	4.37:g.65188436C>G	ENSP00000370607:p.Asp136His					TECRL_uc003hcw.2_Missense_Mutation_p.D136H	p.D136H	NM_001010874	NP_001010874	Q5HYJ1	TECRL_HUMAN			4	515	-			136						Missense_Mutation	SNP	ENST00000381210.3	37	c.406G>C	CCDS33990.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.645849	0.47258	.	.	ENSG00000205678	ENST00000507440;ENST00000381210;ENST00000509536	T;T;T	0.46063	0.88;0.88;0.88	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.71871	0.3391	M	0.91663	3.23	0.58432	D	0.999993	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.995	T	0.77960	-0.2391	10	0.87932	D	0	1.8552	15.4919	0.75611	0.0:1.0:0.0:0.0	.	136;136	Q6IN47;Q5HYJ1	.;TECRL_HUMAN	H	136	ENSP00000426043:D136H;ENSP00000370607:D136H;ENSP00000422497:D136H	ENSP00000370607:D136H	D	-	1	0	TECRL	64871031	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	4.729000	0.62008	2.728000	0.93425	0.585000	0.79938	GAC		PASS	0.318	TECRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361705.4	NM_001010874		16	64	16	64	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66213899	66213899	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:66213899C>A	ENST00000273854.3	-	15	3131	c.2531G>T	c.(2530-2532)tGg>tTg	p.W844L	EPHA5_ENST00000511294.1_Missense_Mutation_p.W845L|EPHA5_ENST00000432638.2_Missense_Mutation_p.W681L|EPHA5_ENST00000354839.4_Missense_Mutation_p.W822L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	844	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.W844L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGGGCAGTCCATCTGATTGG	0.393										TSP Lung(17;0.13)																												uc003hcy.2																			1	Substitution - Missense(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(2530-2532)TGG>TTG		ephrin receptor EphA5 isoform a precursor							113.0	113.0	113.0					4																	66213899		2203	4300	6503	SO:0001583	missense	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66213899C>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2531G>T	4.37:g.66213899C>A	ENSP00000273854:p.Trp844Leu	TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Missense_Mutation_p.W776L|EPHA5_uc003hcz.2_Missense_Mutation_p.W822L|EPHA5_uc011cah.1_Missense_Mutation_p.W845L|EPHA5_uc011cai.1_Missense_Mutation_p.W823L|EPHA5_uc003hda.2_Missense_Mutation_p.W845L	p.W844L	NM_004439	NP_004430	P54756	EPHA5_HUMAN			15	2724	-			844			Cytoplasmic (Potential).|Protein kinase.		Q7Z3F2	Missense_Mutation	SNP	ENST00000273854.3	37	c.2531G>T	CCDS3513.1	.	.	.	.	.	.	.	.	.	.	C	31	5.101206	0.94245	.	.	ENSG00000145242	ENST00000273854;ENST00000432638;ENST00000354839;ENST00000511294	T;T;T;T	0.66460	-0.21;-0.21;-0.21;-0.21	5.86	5.86	0.93980	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000020	D	0.89914	0.6853	H	0.98559	4.265	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.93147	0.6546	10	0.87932	D	0	.	20.1823	0.98208	0.0:1.0:0.0:0.0	.	823;845;822;844	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	L	844;681;822;845	ENSP00000273854:W844L;ENSP00000389208:W681L;ENSP00000346899:W822L;ENSP00000427638:W845L	ENSP00000273854:W844L	W	-	2	0	EPHA5	65896494	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.771000	0.95319	0.650000	0.86243	TGG		PASS	0.393	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		11	62	11	62	---	---	---	---
YTHDC1	91746	broad.mit.edu	37	4	69199062	69199062	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:69199062C>G	ENST00000344157.4	-	5	1272	c.937G>C	c.(937-939)Gat>Cat	p.D313H	YTHDC1_ENST00000355665.3_Missense_Mutation_p.D313H|YTHDC1_ENST00000579690.1_Missense_Mutation_p.D313H	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	313					mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D313H(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCACTTCTATCAAAAACAATT	0.343																																						uc003hdx.2																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(937-939)GAT>CAT		splicing factor YT521-B isoform 1							218.0	231.0	227.0					4																	69199062		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69199062C>G	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.937G>C	4.37:g.69199062C>G	ENSP00000339245:p.Asp313His					YTHDC1_uc003hdy.2_Missense_Mutation_p.D313H	p.D313H	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN			5	1290	-			313					Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.937G>C	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	C	14.10	2.435465	0.43224	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.29655	1.78;1.56	5.57	5.57	0.84162	.	0.126247	0.53938	D	0.000057	T	0.42854	0.1221	N	0.17082	0.46	0.58432	D	0.999999	D;B	0.89917	1.0;0.053	D;B	0.83275	0.996;0.019	T	0.38650	-0.9651	10	0.48119	T	0.1	.	19.9152	0.97057	0.0:1.0:0.0:0.0	.	313;313	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	H	313	ENSP00000339245:D313H;ENSP00000347888:D313H	ENSP00000339245:D313H	D	-	1	0	YTHDC1	68881657	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.899000	0.69846	2.784000	0.95788	0.585000	0.79938	GAT		PASS	0.343	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		64	178	64	178	---	---	---	---
AFF1	4299	broad.mit.edu	37	4	88029336	88029336	+	Missense_Mutation	SNP	G	G	C	rs533139851		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:88029336G>C	ENST00000307808.6	+	10	1801	c.1381G>C	c.(1381-1383)Gtg>Ctg	p.V461L	AFF1_ENST00000395146.4_Missense_Mutation_p.V468L|AFF1_ENST00000544085.1_Missense_Mutation_p.V99L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	461					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)	p.V468L(1)		breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TCCAGAACCAGTGGCATCAGC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		19034	0.0		0.0	False		,,,				2504	0.001					uc003hqj.3																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(1381-1383)GTG>CTG		myeloid/lymphoid or mixed-lineage leukemia							118.0	104.0	109.0					4																	88029336		2203	4300	6503	SO:0001583	missense	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88029336G>C	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1381G>C	4.37:g.88029336G>C	ENSP00000305689:p.Val461Leu					AFF1_uc011ccz.1_Missense_Mutation_p.V468L|AFF1_uc003hqk.3_Missense_Mutation_p.V461L|AFF1_uc011cda.1_Missense_Mutation_p.V99L	p.V461L	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	10	1788	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	461					B4DTU1|E9PBM3	Missense_Mutation	SNP	ENST00000307808.6	37	c.1381G>C	CCDS3616.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.26|18.26	3.584797|3.584797	0.65992|0.65992	.|.	.|.	ENSG00000172493|ENSG00000172493	ENST00000541943|ENST00000395146;ENST00000307808;ENST00000511722;ENST00000544085;ENST00000514970	.|T;T;T;T;T	.|0.65549	.|-0.16;-0.16;-0.16;-0.16;-0.16	5.5|5.5	5.5|5.5	0.81552|0.81552	.|.	.|0.689170	.|0.12438	.|N	.|0.468932	T|T	0.68696|0.68696	0.3029|0.3029	L|L	0.50333|0.50333	1.59|1.59	0.49299|0.49299	D|D	0.999771|0.999771	.|P;P;P	.|0.45715	.|0.865;0.865;0.865	.|P;P;P	.|0.49421	.|0.61;0.61;0.61	T|T	0.62905|0.62905	-0.6755|-0.6755	6|10	0.46703|0.28530	T|T	0.11|0.3	-1.4327|-1.4327	19.7664|19.7664	0.96346|0.96346	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|468;461;461	.|E9PBM3;Q14C88;P51825	.|.;.;AFF1_HUMAN	H|L	120|468;461;99;99;152	.|ENSP00000378578:V468L;ENSP00000305689:V461L;ENSP00000424766:V99L;ENSP00000440843:V99L;ENSP00000424881:V152L	ENSP00000446349:Q120H|ENSP00000305689:V461L	Q|V	+|+	3|1	2|0	AFF1|AFF1	88248360|88248360	0.900000|0.900000	0.30661|0.30661	0.194000|0.194000	0.23346|0.23346	0.060000|0.060000	0.15804|0.15804	3.125000|3.125000	0.50469|0.50469	2.735000|2.735000	0.93741|0.93741	0.655000|0.655000	0.94253|0.94253	CAG|GTG		PASS	0.483	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		4	88	4	88	---	---	---	---
EGF	1950	broad.mit.edu	37	4	110915914	110915914	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:110915914G>A	ENST00000265171.5	+	20	3328	c.2883G>A	c.(2881-2883)agG>agA	p.R961R	EGF_ENST00000503392.1_Silent_p.R920R|EGF_ENST00000509793.1_Silent_p.R919R|RNU6-35P_ENST00000384530.1_RNA	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	961					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.R961R(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CTCACCTCAGGGAAGATGACC	0.433																																						uc003hzy.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4						c.(2881-2883)AGG>AGA		epidermal growth factor precursor	Sulindac(DB00605)						149.0	134.0	139.0					4																	110915914		2203	4300	6503	SO:0001819	synonymous_variant	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110915914G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.2883G>A	4.37:g.110915914G>A						EGF_uc011cfu.1_Silent_p.R919R|EGF_uc011cfv.1_Silent_p.R920R|EGF_uc010imk.2_Silent_p.R109R	p.R961R	NM_001963	NP_001954	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	20	3335	+		Hepatocellular(203;0.0893)	961			Extracellular (Potential).		B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	ENST00000265171.5	37	c.2883G>A	CCDS3689.1																																																																																				PASS	0.433	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			15	64	15	64	---	---	---	---
KIAA1109	84162	broad.mit.edu	37	4	123113471	123113471	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:123113471G>T	ENST00000264501.4	+	11	1362	c.989G>T	c.(988-990)gGa>gTa	p.G330V	KIAA1109_ENST00000388738.3_Missense_Mutation_p.G330V|KIAA1109_ENST00000455637.1_Missense_Mutation_p.G330V			Q2LD37	K1109_HUMAN	KIAA1109	330					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.G330V(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CCATGTTGGGGACTGGATATA	0.373																																						uc003ieh.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(988-990)GGA>GTA		fragile site-associated protein							130.0	127.0	128.0					4																	123113471		1861	4090	5951	SO:0001583	missense	84162				regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus		g.chr4:123113471G>T	AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.989G>T	4.37:g.123113471G>T	ENSP00000264501:p.Gly330Val					KIAA1109_uc003iei.1_Missense_Mutation_p.G84V	p.G330V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN			9	1034	+			330					Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	c.989G>T	CCDS43267.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.063353	0.76187	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.32272	2.04;2.04;1.46	5.93	5.93	0.95920	.	0.116998	0.33610	U	0.004736	T	0.53690	0.1812	L	0.49778	1.585	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.49399	-0.8944	10	0.66056	D	0.02	.	20.3363	0.98740	0.0:0.0:1.0:0.0	.	330	Q2LD37	K1109_HUMAN	V	330	ENSP00000264501:G330V;ENSP00000373390:G330V;ENSP00000389925:G330V	ENSP00000264501:G330V	G	+	2	0	KIAA1109	123332921	1.000000	0.71417	0.994000	0.49952	0.998000	0.95712	9.668000	0.98619	2.814000	0.96858	0.563000	0.77884	GGA		PASS	0.373	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797		19	61	19	61	---	---	---	---
MMAA	166785	broad.mit.edu	37	4	146567233	146567233	+	Missense_Mutation	SNP	G	G	C	rs150376474		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:146567233G>C	ENST00000281317.5	+	4	1868	c.658G>C	c.(658-660)Gtg>Ctg	p.V220L	RP11-557J10.4_ENST00000504555.1_RNA|MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	220					cellular lipid metabolic process (GO:0044255)|cobalamin biosynthetic process (GO:0009236)|cobalamin metabolic process (GO:0009235)|fatty acid beta-oxidation (GO:0006635)|short-chain fatty acid catabolic process (GO:0019626)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	mitochondrial matrix (GO:0005759)	GTP binding (GO:0005525)|hydrolase activity (GO:0016787)	p.V220L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTAGGAGGCGTGACAAGGAC	0.393																																						uc003ikh.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(658-660)GTG>CTG		methylmalonic aciduria type A precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						184.0	172.0	176.0					4																	146567233		2203	4300	6503	SO:0001583	missense	166785					mitochondrion	GTP binding|nucleoside-triphosphatase activity	g.chr4:146567233G>C	AF524841	CCDS3766.1	4q31.1	2011-05-12	2005-07-11			ENSG00000151611			18871	protein-coding gene	gene with protein product		607481	"""methylmalonic aciduria (cobalamin deficiency) type A"""			12438653	Standard	NM_172250		Approved	cblA	uc003ikh.4	Q8IVH4		ENST00000281317.5:c.658G>C	4.37:g.146567233G>C	ENSP00000281317:p.Val220Leu					MMAA_uc003ikg.2_Missense_Mutation_p.V220L|MMAA_uc003iki.1_RNA|MMAA_uc010iow.2_RNA	p.V220L	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN			4	743	+	all_hematologic(180;0.151)		220					B3KX40|Q495G7	Missense_Mutation	SNP	ENST00000281317.5	37	c.658G>C	CCDS3766.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.616633	0.87359	.	.	ENSG00000151611	ENST00000281317;ENST00000537246	D	0.89123	-2.47	5.42	3.63	0.41609	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.90477	0.7017	L	0.45137	1.4	0.80722	D	1	D;D	0.55172	0.968;0.97	D;P	0.63793	0.918;0.702	D	0.90530	0.4495	10	0.66056	D	0.02	-1.2741	11.2917	0.49254	0.0694:0.1264:0.8042:0.0	.	220;220	Q8IVH4;D6RIS5	MMAA_HUMAN;.	L	220	ENSP00000281317:V220L	ENSP00000281317:V220L	V	+	1	0	MMAA	146786683	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	7.395000	0.79876	1.276000	0.44395	0.650000	0.86243	GTG		PASS	0.393	MMAA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364668.2			21	81	21	81	---	---	---	---
LRBA	987	broad.mit.edu	37	4	151752973	151752973	+	Silent	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:151752973G>C	ENST00000357115.3	-	29	4968	c.4725C>G	c.(4723-4725)ctC>ctG	p.L1575L	LRBA_ENST00000507224.1_Silent_p.L1575L|LRBA_ENST00000535741.1_Silent_p.L1575L|LRBA_ENST00000510413.1_Silent_p.L1575L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1575						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.L1575L(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACTTACCAGAGAGTGATACAT	0.328																																						uc010ipj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(3)|skin(1)	7						c.(4723-4725)CTC>CTG		LPS-responsive vesicle trafficking, beach and							79.0	74.0	75.0					4																	151752973		2203	4300	6503	SO:0001819	synonymous_variant	987					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	g.chr4:151752973G>C	AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4725C>G	4.37:g.151752973G>C						LRBA_uc003ilt.3_Silent_p.L234L|LRBA_uc003ilu.3_Silent_p.L1575L	p.L1575L	NM_006726	NP_006717	P50851	LRBA_HUMAN			29	5199	-	all_hematologic(180;0.151)		1575					Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Silent	SNP	ENST00000357115.3	37	c.4725C>G	CCDS3773.1	.	.	.	.	.	.	.	.	.	.	G	0.072	-1.200830	0.01581	.	.	ENSG00000198589	ENST00000509835	.	.	.	5.86	-3.56	0.04626	.	.	.	.	.	T	0.29288	0.0729	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.37103	-0.9720	4	.	.	.	.	8.414	0.32659	0.5953:0.0:0.2922:0.1124	.	.	.	.	C	228	.	.	S	-	2	0	LRBA	151972423	0.000000	0.05858	0.884000	0.34674	0.173000	0.22820	-0.333000	0.07894	-0.369000	0.08028	-0.282000	0.10007	TCT		PASS	0.328	LRBA-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364939.1			8	30	8	30	---	---	---	---
FHDC1	85462	broad.mit.edu	37	4	153896268	153896268	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:153896268G>A	ENST00000511601.1	+	12	2013	c.1825G>A	c.(1825-1827)Gag>Aag	p.E609K	FHDC1_ENST00000260008.3_Missense_Mutation_p.E609K			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	609								p.E609K(1)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGGGGGCCAGGAGGAGGCCCC	0.697																																						uc003inf.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(1825-1827)GAG>AAG		FH2 domain containing 1							49.0	65.0	60.0					4																	153896268		2200	4289	6489	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153896268G>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.1825G>A	4.37:g.153896268G>A	ENSP00000427567:p.Glu609Lys						p.E609K	NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN			11	1900	+	all_hematologic(180;0.093)		609						Missense_Mutation	SNP	ENST00000511601.1	37	c.1825G>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	9.731	1.162281	0.21538	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.32988	1.43;1.43	5.37	1.21	0.21127	.	0.615724	0.16015	N	0.233596	T	0.19287	0.0463	L	0.41027	1.25	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.20273	-1.0280	10	0.18276	T	0.48	.	4.8863	0.13704	0.3148:0.0:0.538:0.1471	.	609	Q9C0D6	FHDC1_HUMAN	K	609	ENSP00000427567:E609K;ENSP00000260008:E609K	ENSP00000260008:E609K	E	+	1	0	FHDC1	154115718	0.002000	0.14202	0.076000	0.20297	0.232000	0.25224	1.117000	0.31234	0.651000	0.30788	0.563000	0.77884	GAG		PASS	0.697	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		34	121	34	121	---	---	---	---
RAPGEF2	9693	broad.mit.edu	37	4	160235907	160235907	+	Silent	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:160235907A>T	ENST00000264431.4	+	3	776	c.357A>T	c.(355-357)acA>acT	p.T119T	RAPGEF2_ENST00000504604.1_3'UTR	NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	119					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.T107T(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TTGACCGGACAGATGATGACA	0.423																																						uc003iqg.3																			1	Substitution - coding silent(1)		lung(1)	lung(2)|upper_aerodigestive_tract(1)|skin(1)	4						c.(355-357)ACA>ACT		Rap guanine nucleotide exchange factor 2							133.0	136.0	135.0					4																	160235907		1990	4155	6145	SO:0001819	synonymous_variant	9693				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr4:160235907A>T	AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.357A>T	4.37:g.160235907A>T							p.T119T	NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN		COAD - Colon adenocarcinoma(41;0.0817)	3	667	+	all_hematologic(180;0.24)		119					D3DP27	Silent	SNP	ENST00000264431.4	37	c.357A>T	CCDS43277.1																																																																																				PASS	0.423	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364980.2	NM_014247		26	79	26	79	---	---	---	---
FSTL5	56884	broad.mit.edu	37	4	162463830	162463830	+	Missense_Mutation	SNP	C	C	A	rs369271416		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:162463830C>A	ENST00000306100.5	-	9	1467	c.1031G>T	c.(1030-1032)cGg>cTg	p.R344L	FSTL5_ENST00000427802.2_Missense_Mutation_p.R343L|FSTL5_ENST00000379164.4_Missense_Mutation_p.R343L|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Missense_Mutation_p.R343L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	344	Ig-like 2.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.R344L(2)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGGATACACCCGGATGACTGG	0.403																																						uc003iqh.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|skin(1)	8						c.(1030-1032)CGG>CTG		follistatin-like 5 isoform a							62.0	63.0	62.0					4																	162463830		2203	4300	6503	SO:0001583	missense	56884					extracellular region	calcium ion binding	g.chr4:162463830C>A	BC036502	CCDS3802.1, CCDS47157.1, CCDS47158.1	4q32.3	2013-01-11			ENSG00000168843	ENSG00000168843		"""EF-hand domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	21386	protein-coding gene	gene with protein product						10574462, 15527507	Standard	NM_020116		Approved	DKFZp566D234, KIAA1263	uc003iqh.4	Q8N475	OTTHUMG00000161397	ENST00000306100.5:c.1031G>T	4.37:g.162463830C>A	ENSP00000305334:p.Arg344Leu					FSTL5_uc003iqi.2_Missense_Mutation_p.R343L|FSTL5_uc010iqv.2_Missense_Mutation_p.R343L	p.R344L	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN		COAD - Colon adenocarcinoma(41;0.179)	9	1467	-	all_hematologic(180;0.24)		344			Ig-like 2.		E9PCP6|Q9NSW7|Q9ULF7	Missense_Mutation	SNP	ENST00000306100.5	37	c.1031G>T	CCDS3802.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.143403	0.77888	.	.	ENSG00000168843	ENST00000306100;ENST00000379164;ENST00000427802;ENST00000536695	T;T;T;T	0.75704	-0.96;-0.96;-0.96;-0.96	5.02	5.02	0.67125	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.140774	0.49916	D	0.000128	T	0.65026	0.2652	N	0.10874	0.06	0.58432	D	0.999999	P;D;P	0.53151	0.911;0.958;0.572	P;P;B	0.48840	0.592;0.543;0.252	T	0.67264	-0.5714	10	0.32370	T	0.25	.	17.7017	0.88296	0.0:1.0:0.0:0.0	.	343;343;344	E9PCP6;F8VZ90;Q8N475	.;.;FSTL5_HUMAN	L	344;343;343;343	ENSP00000305334:R344L;ENSP00000368462:R343L;ENSP00000389270:R343L;ENSP00000440409:R343L	ENSP00000305334:R344L	R	-	2	0	FSTL5	162683280	0.998000	0.40836	0.995000	0.50966	0.994000	0.84299	3.678000	0.54627	2.491000	0.84063	0.563000	0.77884	CGG		PASS	0.403	FSTL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364773.2	NM_020116		10	61	10	61	---	---	---	---
TLL1	7092	broad.mit.edu	37	4	166978409	166978409	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:166978409G>T	ENST00000061240.2	+	14	2441	c.1794G>T	c.(1792-1794)caG>caT	p.Q598H	TLL1_ENST00000507499.1_Missense_Mutation_p.Q621H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	598	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.Q598H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GCAGTTACCAGTGTGCCTGTG	0.517																																						uc003irh.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)|breast(1)|central_nervous_system(1)	7						c.(1792-1794)CAG>CAT		tolloid-like 1 precursor							153.0	144.0	147.0					4																	166978409		2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166978409G>T	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1794G>T	4.37:g.166978409G>T	ENSP00000061240:p.Gln598His					TLL1_uc011cjn.1_Missense_Mutation_p.Q621H|TLL1_uc011cjo.1_Missense_Mutation_p.Q422H	p.Q598H	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	14	2441	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	598			EGF-like 1; calcium-binding (Potential).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.1794G>T	CCDS3811.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434537	0.43224	.	.	ENSG00000038295	ENST00000061240;ENST00000507499	D;D	0.96104	-3.91;-3.91	5.85	4.03	0.46877	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.207947	0.41294	U	0.000909	D	0.91005	0.7171	L	0.37897	1.145	0.80722	D	1	B;B	0.10296	0.003;0.002	B;B	0.16722	0.016;0.016	D	0.87113	0.2186	10	0.51188	T	0.08	.	7.5862	0.27993	0.1406:0.0:0.7235:0.1359	.	621;598	E9PD25;O43897	.;TLL1_HUMAN	H	598;621	ENSP00000061240:Q598H;ENSP00000426082:Q621H	ENSP00000061240:Q598H	Q	+	3	2	TLL1	167197859	1.000000	0.71417	1.000000	0.80357	0.838000	0.47535	2.266000	0.43320	1.475000	0.48197	0.650000	0.86243	CAG		PASS	0.517	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1			9	46	9	46	---	---	---	---
DDX60	55601	broad.mit.edu	37	4	169190038	169190038	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:169190038G>A	ENST00000393743.3	-	20	3044	c.2753C>T	c.(2752-2754)tCa>tTa	p.S918L		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	918	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)	p.S918L(2)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TATGGTAGCTGAAAGAGCCAA	0.348																																						uc003irp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(2752-2754)TCA>TTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60							102.0	99.0	100.0					4																	169190038		2203	4300	6503	SO:0001583	missense	55601						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169190038G>A	AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2753C>T	4.37:g.169190038G>A	ENSP00000377344:p.Ser918Leu						p.S918L	NM_017631	NP_060101	Q8IY21	DDX60_HUMAN		GBM - Glioblastoma multiforme(119;0.0485)	20	3045	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	918			Helicase ATP-binding.		Q6PK35|Q9NVE3	Missense_Mutation	SNP	ENST00000393743.3	37	c.2753C>T	CCDS34097.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.127782	0.77549	.	.	ENSG00000137628	ENST00000393743;ENST00000537338	D	0.81908	-1.55	5.56	5.56	0.83823	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.56097	D	0.000032	D	0.95513	0.8542	H	0.99347	4.525	0.48901	D	0.999721	D	0.89917	1.0	D	0.97110	1.0	D	0.97397	0.9993	10	0.87932	D	0	.	19.1245	0.93376	0.0:0.0:1.0:0.0	.	918	Q8IY21	DDX60_HUMAN	L	918;10	ENSP00000377344:S918L	ENSP00000377344:S918L	S	-	2	0	DDX60	169426613	1.000000	0.71417	0.953000	0.39169	0.542000	0.35054	6.230000	0.72301	2.628000	0.89032	0.455000	0.32223	TCA		PASS	0.348	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364622.1	NM_017631		11	74	11	74	---	---	---	---
MORF4	10934	broad.mit.edu	37	4	174537601	174537601	+	IGR	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:174537601C>G								RP11-475B2.1 (21894 upstream) : RP11-161D15.2 (279943 downstream)																							AACTTCAACTCTGTTCATGAA	0.443																																						uc011cke.1																			0					0						c.(193-195)AGA>ACA		mortality factor 4							122.0	126.0	125.0					4																	174537601		2203	4300	6503	SO:0001628	intergenic_variant	10934							g.chr4:174537601C>G																													4.37:g.174537601C>G							p.R65T	NM_006792	NP_006783				all cancers(43;1.88e-18)|Epithelial(43;1.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	1	194	-		Prostate(90;0.00201)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0765)|all_hematologic(60;0.107)							Missense_Mutation	SNP		37	c.194G>C																																																																																				0	PASS	0.443									27	109	27	109	---	---	---	---
STOX2	56977	broad.mit.edu	37	4	184931924	184931924	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:184931924C>A	ENST00000308497.4	+	3	3368	c.1933C>A	c.(1933-1935)Cac>Aac	p.H645N	STOX2_ENST00000438269.1_Missense_Mutation_p.H645N	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	645					embryo development (GO:0009790)|maternal placenta development (GO:0001893)			p.H669N(1)|p.H645N(1)		breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCAGGTCCCCCACTCCTCCAG	0.612																																						uc003ivz.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1933-1935)CAC>AAC		storkhead box 2							15.0	16.0	16.0					4																	184931924		1880	4100	5980	SO:0001583	missense	56977				embryo development|maternal placenta development			g.chr4:184931924C>A	AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.1933C>A	4.37:g.184931924C>A	ENSP00000311257:p.His645Asn					STOX2_uc003iwa.1_Missense_Mutation_p.H334N	p.H645N	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)	3	3368	+		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)	645					A6H8U4|Q9NPS8	Missense_Mutation	SNP	ENST00000308497.4	37	c.1933C>A	CCDS47167.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.723473	0.48728	.	.	ENSG00000173320	ENST00000308497;ENST00000438269	T;T	0.81415	-0.5;-1.49	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.75042	0.3796	L	0.32530	0.975	0.51012	D	0.999903	B;B	0.25521	0.124;0.128	B;B	0.27887	0.029;0.084	T	0.69202	-0.5207	10	0.34782	T	0.22	-16.1729	19.4929	0.95059	0.0:1.0:0.0:0.0	.	645;645	Q9P2F5-2;Q9P2F5	.;STOX2_HUMAN	N	645	ENSP00000311257:H645N;ENSP00000390127:H645N	ENSP00000311257:H645N	H	+	1	0	STOX2	185168918	1.000000	0.71417	0.192000	0.23308	0.907000	0.53573	7.289000	0.78701	2.835000	0.97688	0.650000	0.86243	CAC		PASS	0.612	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361433.3	NM_020225		3	17	3	17	---	---	---	---
ENPP6	133121	broad.mit.edu	37	4	185045395	185045395	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:185045395G>T	ENST00000296741.2	-	3	593	c.452C>A	c.(451-453)cCc>cAc	p.P151H		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	151					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)	p.P151H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GCAGTAGGTGGGTCTGACACC	0.418																																						uc003iwc.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(451-453)CCC>CAC		ectonucleotide pyrophosphatase/phosphodiesterase							128.0	137.0	134.0					4																	185045395		2203	4300	6503	SO:0001583	missense	133121				lipid catabolic process	extracellular region|integral to membrane|plasma membrane		g.chr4:185045395G>T	AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.452C>A	4.37:g.185045395G>T	ENSP00000296741:p.Pro151His						p.P151H	NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)	3	594	-		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)	151			Extracellular (Potential).		Q4W5Q1|Q96M57	Missense_Mutation	SNP	ENST00000296741.2	37	c.452C>A	CCDS3834.1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.612824	0.66672	.	.	ENSG00000164303	ENST00000296741;ENST00000512353	D;D	0.88201	-2.35;-2.35	5.67	5.67	0.87782	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.095731	0.64402	D	0.000001	D	0.96321	0.8800	H	0.94264	3.515	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.97008	0.9734	10	0.87932	D	0	-17.1025	19.3681	0.94473	0.0:0.0:1.0:0.0	.	151	Q6UWR7	ENPP6_HUMAN	H	151;63	ENSP00000296741:P151H;ENSP00000423497:P63H	ENSP00000296741:P151H	P	-	2	0	ENPP6	185282389	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	7.717000	0.84732	2.677000	0.91161	0.655000	0.94253	CCC		PASS	0.418	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343		33	132	33	132	---	---	---	---
TLR3	7098	broad.mit.edu	37	4	187005962	187005962	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:187005962G>C	ENST00000296795.3	+	5	2754	c.2650G>C	c.(2650-2652)Gaa>Caa	p.E884Q	TLR3_ENST00000504367.1_Missense_Mutation_p.E607Q	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	884	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to drug (GO:0035690)|cellular response to exogenous dsRNA (GO:0071360)|cellular response to interferon-beta (GO:0035458)|cellular response to interferon-gamma (GO:0071346)|cellular response to mechanical stimulus (GO:0071260)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|detection of virus (GO:0009597)|extrinsic apoptotic signaling pathway (GO:0097191)|hyperosmotic response (GO:0006972)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|male gonad development (GO:0008584)|microglial cell activation involved in immune response (GO:0002282)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic signaling pathway (GO:0097527)|negative regulation of osteoclast differentiation (GO:0045671)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type III interferon production (GO:0034346)|response to exogenous dsRNA (GO:0043330)|signal transduction (GO:0007165)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	double-stranded RNA binding (GO:0003725)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)	p.E884Q(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		AGTTCAGAAAGAACGGATAGG	0.363																																						uc003iyq.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|prostate(1)|lung(1)|breast(1)	5						c.(2650-2652)GAA>CAA		toll-like receptor 3 precursor							84.0	88.0	87.0					4																	187005962		2203	4300	6503	SO:0001583	missense	7098				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	g.chr4:187005962G>C	U88879	CCDS3846.1	4q35	2014-09-17				ENSG00000164342		"""CD molecules"""	11849	protein-coding gene	gene with protein product		603029				9435236	Standard	NM_003265		Approved	CD283	uc003iyq.3	O15455		ENST00000296795.3:c.2650G>C	4.37:g.187005962G>C	ENSP00000296795:p.Glu884Gln					TLR3_uc011ckz.1_Missense_Mutation_p.E607Q|TLR3_uc003iyr.2_Missense_Mutation_p.E607Q	p.E884Q	NM_003265	NP_003256	O15455	TLR3_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)	5	2751	+		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)	884			Cytoplasmic (Potential).|TIR.		B2RAI7|B7Z7K0|E6Y0F0|E6Y0F1|E9PGH4|Q4VAL2|Q504W0	Missense_Mutation	SNP	ENST00000296795.3	37	c.2650G>C	CCDS3846.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240398	0.79912	.	.	ENSG00000164342	ENST00000296795;ENST00000504367	T;T	0.02682	4.2;4.2	5.84	5.84	0.93424	Toll/interleukin-1 receptor homology (TIR) domain (3);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00038	-1.2246	10	0.49607	T	0.09	.	20.1454	0.98074	0.0:0.0:1.0:0.0	.	884	O15455	TLR3_HUMAN	Q	884;607	ENSP00000296795:E884Q;ENSP00000423684:E607Q	ENSP00000296795:E884Q	E	+	1	0	TLR3	187242956	1.000000	0.71417	1.000000	0.80357	0.698000	0.40448	7.319000	0.79040	2.748000	0.94277	0.650000	0.86243	GAA		PASS	0.363	TLR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360313.4			19	73	19	73	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187629005	187629005	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr4:187629005G>C	ENST00000441802.2	-	2	2186	c.1977C>G	c.(1975-1977)atC>atG	p.I659M		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	659	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.I659M(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGTTATGTTGATATATAATG	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2																			2	Substitution - Missense(2)		lung(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(1975-1977)ATC>ATG		FAT tumor suppressor 1 precursor							58.0	56.0	57.0					4																	187629005		1886	4124	6010	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629005G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1977C>G	4.37:g.187629005G>C	ENSP00000406229:p.Ile659Met	HNSCC(5;0.00058)				FAT1_uc010iso.1_Missense_Mutation_p.I659M	p.I659M	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	2165	-			659			Extracellular (Potential).|Cadherin 5.			Missense_Mutation	SNP	ENST00000441802.2	37	c.1977C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	3.986	-0.005492	0.07773	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.43294	0.95	5.4	4.55	0.56014	Cadherin (3);Cadherin-like (1);	0.094307	0.64402	D	0.000001	T	0.32793	0.0841	L	0.45422	1.42	0.50467	D	0.999871	B	0.15473	0.013	B	0.12837	0.008	T	0.23190	-1.0195	10	0.72032	D	0.01	.	6.3753	0.21503	0.1499:0.0:0.7009:0.1491	.	659	Q14517	FAT1_HUMAN	M	659	ENSP00000406229:I659M	ENSP00000260147:I659M	I	-	3	3	FAT1	187865999	1.000000	0.71417	0.997000	0.53966	0.120000	0.20174	2.561000	0.45905	1.499000	0.48617	0.655000	0.94253	ATC		PASS	0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		18	61	18	61	---	---	---	---
CTNND2	1501	broad.mit.edu	37	5	11098820	11098820	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:11098820G>T	ENST00000304623.8	-	15	2693	c.2504C>A	c.(2503-2505)cCa>cAa	p.P835Q	CTNND2_ENST00000511377.1_Missense_Mutation_p.P744Q|CTNND2_ENST00000503622.1_Missense_Mutation_p.P498Q|CTNND2_ENST00000458100.2_Missense_Mutation_p.P402Q|CTNND2_ENST00000359640.2_Intron|CTNND2_ENST00000495388.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	835					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.P835Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATCCCTTTTGGTGGTTCAGC	0.507																																						uc003jfa.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1)	8						c.(2503-2505)CCA>CAA		catenin (cadherin-associated protein), delta 2							143.0	130.0	135.0					5																	11098820		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11098820G>T	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.2504C>A	5.37:g.11098820G>T	ENSP00000307134:p.Pro835Gln					CTNND2_uc010itt.2_Missense_Mutation_p.P744Q|CTNND2_uc011cmy.1_Missense_Mutation_p.P498Q|CTNND2_uc011cmz.1_Missense_Mutation_p.P402Q|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_Missense_Mutation_p.P402Q	p.P835Q	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN			15	2649	-			835			ARM 7.		B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.2504C>A	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	31	5.074691	0.94000	.	.	ENSG00000169862	ENST00000304623;ENST00000511377;ENST00000458100;ENST00000503622	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	6.17	6.17	0.99709	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.92567	0.7639	M	0.70595	2.14	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.92048	0.5646	10	0.87932	D	0	-15.475	20.8794	0.99867	0.0:0.0:1.0:0.0	.	498;402;835	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	Q	835;744;402;498	ENSP00000307134:P835Q;ENSP00000426510:P744Q;ENSP00000391155:P402Q;ENSP00000426887:P498Q	ENSP00000307134:P835Q	P	-	2	0	CTNND2	11151820	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CCA		PASS	0.507	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		23	70	23	70	---	---	---	---
ZNF366	167465	broad.mit.edu	37	5	71739897	71739897	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:71739897G>C	ENST00000318442.5	-	5	2411	c.1921C>G	c.(1921-1923)Cag>Gag	p.Q641E	RP11-389C8.2_ENST00000564956.1_RNA	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	641	Interaction with CTBP1.|Interaction with NRIP1.				negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)	p.Q641E(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTGCAGAGCTGCTGGCTCTGG	0.652																																						uc003kce.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1921-1923)CAG>GAG		zinc finger protein 366							110.0	124.0	119.0					5																	71739897		2203	4300	6503	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71739897G>C	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1921C>G	5.37:g.71739897G>C	ENSP00000313158:p.Gln641Glu						p.Q641E	NM_152625	NP_689838	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	5	2107	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	641					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1921C>G	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	G	11.43	1.635651	0.29068	.	.	ENSG00000178175	ENST00000318442	T	0.08807	3.05	5.5	4.62	0.57501	.	1.000790	0.08061	N	0.998288	T	0.06690	0.0171	N	0.14661	0.345	0.09310	N	1	B	0.17465	0.022	B	0.11329	0.006	T	0.36114	-0.9761	10	0.37606	T	0.19	-9.937	10.5995	0.45358	0.0:0.1197:0.6071:0.2732	.	641	Q8N895	ZN366_HUMAN	E	641	ENSP00000313158:Q641E	ENSP00000313158:Q641E	Q	-	1	0	ZNF366	71775653	0.010000	0.17322	0.040000	0.18447	0.087000	0.18053	1.140000	0.31516	1.406000	0.46857	0.655000	0.94253	CAG		PASS	0.652	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			47	205	47	205	---	---	---	---
UTP15	84135	broad.mit.edu	37	5	72873704	72873704	+	Silent	SNP	A	A	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:72873704A>G	ENST00000296792.4	+	9	1173	c.918A>G	c.(916-918)gtA>gtG	p.V306V	UTP15_ENST00000508491.1_Silent_p.V287V|UTP15_ENST00000543251.1_Silent_p.V116V	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	306					rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)	p.V306V(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CAATAGTTGTAGGAATGACCA	0.323																																						uc003kcw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(916-918)GTA>GTG		UTP15, U3 small nucleolar ribonucleoprotein,							83.0	83.0	83.0					5																	72873704		2203	4300	6503	SO:0001819	synonymous_variant	84135				rRNA processing	cytoplasm|nucleolus		g.chr5:72873704A>G	AL831972	CCDS34186.1, CCDS68893.1, CCDS68894.1	5q13.2	2013-01-10	2006-04-20		ENSG00000164338	ENSG00000164338		"""WD repeat domain containing"""	25758	protein-coding gene	gene with protein product			"""UTP15, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			12477932	Standard	NM_032175		Approved	FLJ12787, NET21, FLJ23637	uc003kcw.1	Q8TED0	OTTHUMG00000162453	ENST00000296792.4:c.918A>G	5.37:g.72873704A>G						UTP15_uc011cso.1_Silent_p.V287V|UTP15_uc011csp.1_Silent_p.V116V|UTP15_uc010ize.1_Silent_p.V306V	p.V306V	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)	9	1141	+		Lung NSC(167;0.00405)|Ovarian(174;0.0129)	306			WD 7.		B4DU75|B4DXK8|Q6IA60|Q96E08|Q9H9F8	Silent	SNP	ENST00000296792.4	37	c.918A>G	CCDS34186.1	.	.	.	.	.	.	.	.	.	.	A	10.07	1.250283	0.22880	.	.	ENSG00000164338	ENST00000509005	.	.	.	5.36	-0.0735	0.13735	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	3.478	0.07591	0.4228:0.0:0.2069:0.3703	.	.	.	.	W	333	.	.	X	+	2	0	UTP15	72909460	0.491000	0.26019	0.997000	0.53966	0.977000	0.68977	-0.172000	0.09868	-0.228000	0.09869	-1.308000	0.01314	TAG		PASS	0.323	UTP15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368965.1	NM_032175		12	59	12	59	---	---	---	---
ZCCHC9	84240	broad.mit.edu	37	5	80604814	80604814	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:80604814G>A	ENST00000254037.2	+	3	3740	c.585G>A	c.(583-585)ctG>ctA	p.L195L	ZCCHC9_ENST00000438268.2_Silent_p.L195L|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Silent_p.L195L|ZCCHC9_ENST00000407610.3_Silent_p.L195L			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	195					negative regulation of phosphatase activity (GO:0010923)		poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L195L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TGGGGCACCTGTCTAGATCTT	0.393																																						uc003khj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(583-585)CTG>CTA		zinc finger, CCHC domain containing 9							125.0	112.0	116.0					5																	80604814		2203	4300	6503	SO:0001819	synonymous_variant	84240						nucleic acid binding|zinc ion binding	g.chr5:80604814G>A	BC014841	CCDS4054.1	5q14.1	2013-01-09			ENSG00000131732	ENSG00000131732		"""Zinc fingers, CCHC domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25424	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 41"""					12477932	Standard	NM_032280		Approved	DKFZp761J139, PPP1R41	uc003khi.3	Q8N567	OTTHUMG00000119014	ENST00000254037.2:c.585G>A	5.37:g.80604814G>A						RNU5E_uc011cto.1_Intron|ZCCHC9_uc003khk.3_Silent_p.L195L|ZCCHC9_uc003khi.2_Silent_p.L195L	p.L195L	NM_001131035	NP_001124507	Q8N567	ZCHC9_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)	4	718	+		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)	195			CCHC-type 3.		B2RAE7|Q9H027	Silent	SNP	ENST00000254037.2	37	c.585G>A	CCDS4054.1																																																																																				PASS	0.393	ZCCHC9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239213.1	NM_032280		20	84	20	84	---	---	---	---
POLR3G	10622	broad.mit.edu	37	5	89781457	89781457	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:89781457G>A	ENST00000399107.1	+	2	273	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	POLR3G_ENST00000504930.1_Missense_Mutation_p.E25K|POLR3G_ENST00000514483.1_Missense_Mutation_p.E25K	NM_006467.2	NP_006458.2	O15318	RPC7_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)	25					cell proliferation (GO:0008283)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)	p.E25K(1)		cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		TAGCAAAGGTGAAAAGTTACC	0.388																																						uc003kjq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(73-75)GAA>AAA		polymerase (RNA) III (DNA directed) polypeptide							118.0	106.0	110.0					5																	89781457		1857	4094	5951	SO:0001583	missense	10622				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity	g.chr5:89781457G>A	U93868	CCDS43337.1	5q14.3	2014-06-05			ENSG00000113356	ENSG00000113356		"""RNA polymerase subunits"""	30075	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006467		Approved	RPC32, RPC7	uc003kjq.3	O15318	OTTHUMG00000162809	ENST00000399107.1:c.73G>A	5.37:g.89781457G>A	ENSP00000382058:p.Glu25Lys					POLR3G_uc011cuc.1_Missense_Mutation_p.E25K	p.E25K	NM_006467	NP_006458	O15318	RPC7_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)	2	273	+		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)	25					A8MTH0	Missense_Mutation	SNP	ENST00000399107.1	37	c.73G>A	CCDS43337.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929591	0.92389	.	.	ENSG00000113356	ENST00000512239;ENST00000505345;ENST00000503373;ENST00000503973;ENST00000399107;ENST00000504930;ENST00000514483	.	.	.	5.41	5.41	0.78517	.	0.378246	0.34291	N	0.004099	T	0.77150	0.4088	M	0.65975	2.015	0.37920	D	0.931651	D	0.64830	0.994	D	0.64506	0.926	T	0.80647	-0.1289	9	0.66056	D	0.02	-33.3618	18.1164	0.89556	0.0:0.0:1.0:0.0	.	25	O15318	RPC7_HUMAN	K	25	.	ENSP00000382058:E25K	E	+	1	0	POLR3G	89817213	1.000000	0.71417	0.986000	0.45419	0.873000	0.50193	4.966000	0.63715	2.697000	0.92050	0.563000	0.77884	GAA		PASS	0.388	POLR3G-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370462.1	NM_006467		26	77	26	77	---	---	---	---
KCNN2	3781	broad.mit.edu	37	5	113822800	113822800	+	Missense_Mutation	SNP	T	T	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:113822800T>A	ENST00000512097.3	+	7	2326	c.1308T>A	c.(1306-1308)aaT>aaA	p.N436K	RP11-492A10.1_ENST00000514115.1_RNA|KCNN2_ENST00000264773.3_Missense_Mutation_p.N436K|KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000503706.1_Missense_Mutation_p.N88K			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	436	Calmodulin-binding. {ECO:0000250}.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)	p.N436K(1)|p.N88K(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	TTTACAAAAATACAAAGCTAG	0.328																																						uc003kqo.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(1306-1308)AAT>AAA		small conductance calcium-activated potassium							90.0	87.0	88.0					5																	113822800		2202	4298	6500	SO:0001583	missense	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113822800T>A	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.1308T>A	5.37:g.113822800T>A	ENSP00000427120:p.Asn436Lys					KCNN2_uc003kqp.2_Missense_Mutation_p.N88K|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron	p.N436K	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	6	1765	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	436			Calmodulin-binding (By similarity).		A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	Missense_Mutation	SNP	ENST00000512097.3	37	c.1308T>A	CCDS4114.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.904102	0.72754	.	.	ENSG00000080709	ENST00000264773;ENST00000503706	D;D	0.98280	-4.84;-3.18	5.2	-4.35	0.03656	Calmodulin-binding domain (2);	0.083954	0.85682	D	0.000000	D	0.95828	0.8642	L	0.43152	1.355	0.50039	D	0.999844	B	0.33345	0.409	B	0.38755	0.281	D	0.87381	0.2357	10	0.72032	D	0.01	.	13.9149	0.63890	0.0:0.5305:0.0:0.4695	.	436	Q9H2S1	KCNN2_HUMAN	K	436;88	ENSP00000264773:N436K;ENSP00000421439:N88K	ENSP00000264773:N436K	N	+	3	2	KCNN2	113850699	0.999000	0.42202	0.952000	0.39060	0.995000	0.86356	0.599000	0.24089	-0.992000	0.03472	-0.290000	0.09829	AAT		PASS	0.328	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2	NM_021614		14	61	14	61	---	---	---	---
ALDH7A1	501	broad.mit.edu	37	5	125930765	125930765	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:125930765C>T	ENST00000409134.3	-	1	345	c.126G>A	c.(124-126)ctG>ctA	p.L42L	ALDH7A1_ENST00000413020.1_5'UTR|ALDH7A1_ENST00000447989.2_Silent_p.L69L|ALDH7A1_ENST00000553117.1_Silent_p.L42L	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	42					cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|glycine betaine biosynthetic process from choline (GO:0019285)|lysine catabolic process (GO:0006554)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|betaine-aldehyde dehydrogenase activity (GO:0008802)|L-aminoadipate-semialdehyde dehydrogenase activity (GO:0004043)	p.L14L(1)|p.L69L(1)		endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)		CCAGCTCTTTCAGCCACGCAT	0.612																																						uc003ktx.2																			2	Substitution - coding silent(2)		lung(2)	kidney(2)|ovary(1)	3						c.(124-126)CTG>CTA		aldehyde dehydrogenase 7 family, member A1	NADH(DB00157)|Pyridoxine(DB00165)						29.0	27.0	28.0					5																	125930765		2203	4300	6503	SO:0001819	synonymous_variant	501				cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity	g.chr5:125930765C>T	S74728	CCDS4137.2, CCDS56380.1	5q31	2013-06-03			ENSG00000164904	ENSG00000164904	1.2.1.31	"""Aldehyde dehydrogenases"""	877	protein-coding gene	gene with protein product	"""antiquitin 1"", ""26g turgor protein homolog"", ""alpha-aminoadipic semialdehyde dehydrogenase"", ""alpha-AASA dehydrogenase"", ""delta1-piperideine-6-carboxylate dehydrogenease"", ""P6c dehydrogenase"""	107323		ATQ1		9417906	Standard	NM_001182		Approved	EPD, PDE	uc003ktx.3	P49419	OTTHUMG00000128942	ENST00000409134.3:c.126G>A	5.37:g.125930765C>T						ALDH7A1_uc003kty.2_RNA|ALDH7A1_uc011cxa.1_Silent_p.L69L|ALDH7A1_uc003ktz.2_Silent_p.L69L	p.L42L	NM_001182	NP_001173	P49419	AL7A1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	1	318	-		all_cancers(142;0.24)|Prostate(80;0.081)	42					B2R669|B4DIC7|B4DMA0|E7EPT3|O14619|Q6IPU8|Q9BUL4	Silent	SNP	ENST00000409134.3	37	c.126G>A	CCDS4137.2																																																																																				PASS	0.612	ALDH7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250921.2	NM_001182		4	9	4	9	---	---	---	---
FBN2	2201	broad.mit.edu	37	5	127638692	127638692	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:127638692C>G	ENST00000508053.1	-	52	6864	c.5890G>C	c.(5890-5892)Gaa>Caa	p.E1964Q	FBN2_ENST00000262464.4_Missense_Mutation_p.E1964Q			P35556	FBN2_HUMAN	fibrillin 2	1964	EGF-like 32; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E1964Q(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGAGTGAGTTCAAACCCTGGG	0.378																																						uc003kuu.2																			2	Substitution - Missense(2)		lung(2)	ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15						c.(5890-5892)GAA>CAA		fibrillin 2 precursor							142.0	149.0	147.0					5																	127638692		2203	4300	6503	SO:0001583	missense	2201				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	g.chr5:127638692C>G	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.5890G>C	5.37:g.127638692C>G	ENSP00000424571:p.Glu1964Gln						p.E1964Q	NM_001999	NP_001990	P35556	FBN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)	46	6329	-		all_cancers(142;0.0216)|Prostate(80;0.0551)	1964			EGF-like 32; calcium-binding.		B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	c.5890G>C	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303343	0.40795	.	.	ENSG00000138829	ENST00000262464;ENST00000508053	D;D	0.87256	-2.23;-2.23	5.18	5.18	0.71444	EGF-like region, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.098656	0.44285	D	0.000480	T	0.77177	0.4092	N	0.04203	-0.255	0.42555	D	0.993121	B	0.27700	0.186	B	0.35859	0.212	T	0.72724	-0.4207	10	0.13853	T	0.58	.	18.8763	0.92337	0.0:1.0:0.0:0.0	.	1964	P35556	FBN2_HUMAN	Q	1964	ENSP00000262464:E1964Q;ENSP00000424571:E1964Q	ENSP00000262464:E1964Q	E	-	1	0	FBN2	127666591	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	2.027000	0.41078	2.700000	0.92200	0.655000	0.94253	GAA		PASS	0.378	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999		25	110	25	110	---	---	---	---
IRF1	3659	broad.mit.edu	37	5	131822653	131822653	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:131822653C>G	ENST00000245414.4	-	4	615	c.357G>C	c.(355-357)caG>caC	p.Q119H	IRF1_ENST00000463784.1_5'UTR|IRF1_ENST00000405885.2_Missense_Mutation_p.Q119H	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	119					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell cycle arrest (GO:0007050)|cellular response to interferon-beta (GO:0035458)|cellular response to mechanical stimulus (GO:0071260)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cell proliferation (GO:0008285)|negative regulation of regulatory T cell differentiation (GO:0045590)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta T cell proliferation (GO:2000564)|regulation of cell cycle (GO:0051726)|regulation of innate immune response (GO:0045088)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q119H(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TACCTTTTCTCTGGTTCTTGG	0.582																																						uc003kxa.2																			1	Substitution - Missense(1)		lung(1)		0						c.(355-357)CAG>CAC		interferon regulatory factor 1							172.0	166.0	168.0					5																	131822653		2203	4300	6503	SO:0001583	missense	3659				blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm		g.chr5:131822653C>G		CCDS4155.1	5q23-q31	2008-07-18			ENSG00000125347	ENSG00000125347			6116	protein-coding gene	gene with protein product	"""interferon regulatory factor-1"""	147575				2726461, 1680796	Standard	NM_002198		Approved	MAR	uc003kxa.2	P10914	OTTHUMG00000059497	ENST00000245414.4:c.357G>C	5.37:g.131822653C>G	ENSP00000245414:p.Gln119His					IRF1_uc003kxd.2_RNA|IRF1_uc003kxb.2_Missense_Mutation_p.Q119H|IRF1_uc010jdt.1_Missense_Mutation_p.Q119H	p.Q119H	NM_002198	NP_002189	P10914	IRF1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)	4	591	-		all_cancers(142;0.026)|Breast(839;0.198)	119					Q96GG7	Missense_Mutation	SNP	ENST00000245414.4	37	c.357G>C	CCDS4155.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.004880	0.74932	.	.	ENSG00000125347	ENST00000245414;ENST00000405885;ENST00000437654;ENST00000458069	D;D;D;D	0.99032	-5.35;-5.35;-5.3;-5.31	5.87	5.87	0.94306	.	0.315846	0.35805	N	0.002971	D	0.99146	0.9705	M	0.64997	1.995	0.42095	D	0.991311	D;D	0.67145	0.996;0.996	D;D	0.75484	0.986;0.986	D	0.99912	1.1205	10	0.66056	D	0.02	-23.712	20.1976	0.98245	0.0:1.0:0.0:0.0	.	119;119	Q5FBX3;P10914	.;IRF1_HUMAN	H	119	ENSP00000245414:Q119H;ENSP00000384406:Q119H;ENSP00000405655:Q119H;ENSP00000396318:Q119H	ENSP00000245414:Q119H	Q	-	3	2	IRF1	131850552	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.152000	0.58111	2.772000	0.95346	0.655000	0.94253	CAG		PASS	0.582	IRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132340.1	NM_002198		38	120	38	120	---	---	---	---
PPP2CA	5515	broad.mit.edu	37	5	133534875	133534875	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:133534875G>A	ENST00000481195.1	-	6	1039	c.759C>T	c.(757-759)gaC>gaT	p.D253D	CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1	P67775	PP2AA_HUMAN	protein phosphatase 2, catalytic subunit, alpha isozyme	253					apoptotic process (GO:0006915)|ceramide metabolic process (GO:0006672)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|inactivation of MAPK activity (GO:0000188)|meiotic nuclear division (GO:0007126)|mesoderm development (GO:0007498)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|negative regulation of cell growth (GO:0030308)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of tyrosine phosphorylation of Stat3 protein (GO:0042518)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein dephosphorylation (GO:0006470)|protein heterotrimerization (GO:0070208)|regulation of cell adhesion (GO:0030155)|regulation of cell differentiation (GO:0045595)|regulation of DNA replication (GO:0006275)|regulation of growth (GO:0040008)|regulation of protein autophosphorylation (GO:0031952)|regulation of protein catabolic process (GO:0042176)|regulation of receptor activity (GO:0010469)|regulation of transcription, DNA-templated (GO:0006355)|regulation of Wnt signaling pathway (GO:0030111)|response to organic substance (GO:0010033)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|second-messenger-mediated signaling (GO:0019932)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase type 2A complex (GO:0000159)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)	p.D253D(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Vitamin E(DB00163)	CTACATTCCGGTCATGGCACC	0.368																																						uc003kze.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(757-759)GAC>GAT		protein phosphatase 2, catalytic subunit, alpha	Vitamin E(DB00163)						128.0	117.0	120.0					5																	133534875		2203	4300	6503	SO:0001819	synonymous_variant	5515				ceramide metabolic process|inactivation of MAPK activity|induction of apoptosis|meiosis|negative regulation of cell growth|negative regulation of epithelial to mesenchymal transition|negative regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of protein serine/threonine kinase activity|protein dephosphorylation|regulation of cell adhesion|regulation of DNA replication|regulation of transcription, DNA-dependent|regulation of Wnt receptor signaling pathway|response to organic substance|RNA splicing|second-messenger-mediated signaling	chromosome, centromeric region|cytosol|mitochondrion|nucleus|protein phosphatase type 2A complex|soluble fraction|spindle pole	metal ion binding|phosphoprotein phosphatase activity	g.chr5:133534875G>A		CCDS4173.1	5q31.1	2013-01-24	2010-03-05		ENSG00000113575	ENSG00000113575	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9299	protein-coding gene	gene with protein product	"""protein phosphatase 2A catalytic subunit, alpha isoform"""	176915	"""protein phosphatase 2 (formerly 2A), catalytic subunit, alpha isoform"""			8383590	Standard	NM_002715		Approved	PP2Calpha		P67775	OTTHUMG00000129119	ENST00000481195.1:c.759C>T	5.37:g.133534875G>A							p.D253D	NM_002715	NP_002706	P67775	PP2AA_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		6	1157	-			253					P05323|P13197	Silent	SNP	ENST00000481195.1	37	c.759C>T	CCDS4173.1																																																																																				PASS	0.368	PPP2CA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251165.1	NM_002715		20	50	20	50	---	---	---	---
TGFBI	7045	broad.mit.edu	37	5	135388806	135388806	+	Nonsense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:135388806C>G	ENST00000442011.2	+	8	1285	c.1124C>G	c.(1123-1125)tCa>tGa	p.S375*	TGFBI_ENST00000305126.8_Nonsense_Mutation_p.S375*	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	375	FAS1 3. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)	p.S375*(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATCCCAGACTCAGGTAGGCCA	0.567																																						uc003lbf.3																			1	Substitution - Nonsense(1)		lung(1)	breast(3)|ovary(1)	4						c.(1123-1125)TCA>TGA		transforming growth factor, beta-induced, 68kDa							46.0	49.0	48.0					5																	135388806		1975	4158	6133	SO:0001587	stop_gained	7045				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	g.chr5:135388806C>G	M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.1124C>G	5.37:g.135388806C>G	ENSP00000416330:p.Ser375*					TGFBI_uc003lbg.3_Nonsense_Mutation_p.S108*|TGFBI_uc003lbh.3_Nonsense_Mutation_p.S201*|TGFBI_uc011cyb.1_Nonsense_Mutation_p.S201*|TGFBI_uc010jed.2_Nonsense_Mutation_p.S108*	p.S375*	NM_000358	NP_000349	Q15582	BGH3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		8	1285	+			375			FAS1 3.		D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Nonsense_Mutation	SNP	ENST00000442011.2	37	c.1124C>G	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	C	40	8.254429	0.98727	.	.	ENSG00000120708	ENST00000442011;ENST00000398813;ENST00000305126	.	.	.	5.95	5.95	0.96441	.	0.060172	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.9087	20.3697	0.98890	0.0:1.0:0.0:0.0	.	.	.	.	X	375;108;375	.	ENSP00000306306:S375X	S	+	2	0	TGFBI	135416705	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	6.086000	0.71352	2.811000	0.96726	0.655000	0.94253	TCA		PASS	0.567	TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1			6	29	6	29	---	---	---	---
SPOCK1	6695	broad.mit.edu	37	5	136328224	136328224	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:136328224C>T	ENST00000394945.1	-	7	824	c.655G>A	c.(655-657)Gag>Aag	p.E219K	SPOCK1_ENST00000282223.7_Missense_Mutation_p.E219K	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	219					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.E219K(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCGCATCCTCGTGGAGAGCT	0.478																																						uc003lbo.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(655-657)GAG>AAG		sparc/osteonectin, cwcv and kazal-like domains							158.0	148.0	151.0					5																	136328224		2203	4300	6503	SO:0001583	missense	6695				cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding	g.chr5:136328224C>T	AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.655G>A	5.37:g.136328224C>T	ENSP00000378401:p.Glu219Lys					SPOCK1_uc003lbp.2_Missense_Mutation_p.E219K	p.E219K	NM_004598	NP_004589	Q08629	TICN1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		6	846	-			219					B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	ENST00000394945.1	37	c.655G>A	CCDS4191.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.299826	0.60195	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	T;T	0.46819	0.86;0.86	5.89	5.01	0.66863	SPARC/Testican, calcium-binding domain (1);EF-hand-like domain (1);	0.140036	0.51477	D	0.000081	T	0.44685	0.1305	M	0.62016	1.91	0.34119	D	0.663929	P	0.39520	0.676	B	0.32289	0.143	T	0.62927	-0.6750	10	0.52906	T	0.07	.	16.027	0.80551	0.0:0.8655:0.1345:0.0	.	219	Q08629	TICN1_HUMAN	K	219	ENSP00000378401:E219K;ENSP00000282223:E219K	ENSP00000282223:E219K	E	-	1	0	SPOCK1	136356123	1.000000	0.71417	0.914000	0.36105	0.616000	0.37450	4.816000	0.62642	1.460000	0.47911	0.655000	0.94253	GAG		PASS	0.478	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251222.1	NM_004598		23	63	23	63	---	---	---	---
UBE2D2	7322	broad.mit.edu	37	5	138994186	138994186	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:138994186C>T	ENST00000398733.3	+	3	730	c.104C>T	c.(103-105)gCt>gTt	p.A35V	UBE2D2_ENST00000505548.1_Missense_Mutation_p.A6V|UBE2D2_ENST00000253815.2_Missense_Mutation_p.A6V|UBE2D2_ENST00000511725.1_Missense_Mutation_p.A6V	NM_003339.2	NP_003330.1	P62837	UB2D2_HUMAN	ubiquitin-conjugating enzyme E2D 2	35					cellular protein modification process (GO:0006464)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)	p.A35V(1)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CATTGGCAAGCTACAATAATG	0.313																																						uc003ler.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(103-105)GCT>GTT		ubiquitin-conjugating enzyme E2D 2 isoform 1							128.0	118.0	121.0					5																	138994186		1847	4089	5936	SO:0001583	missense	7322				protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr5:138994186C>T	L40146	CCDS43369.1, CCDS47275.1	5q31.2	2013-10-18	2011-05-19		ENSG00000131508	ENSG00000131508		"""Ubiquitin-conjugating enzymes E2"""	12475	protein-coding gene	gene with protein product		602962	"""ubiquitin-conjugating enzyme E2D 2 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2D 2 (UBC4/5 homolog, yeast)"""			8530467	Standard	NM_181838		Approved	UbcH5B, UBC4	uc003ler.3	P62837	OTTHUMG00000163282	ENST00000398733.3:c.104C>T	5.37:g.138994186C>T	ENSP00000381717:p.Ala35Val					UBE2D2_uc003leq.2_Missense_Mutation_p.A6V	p.A35V	NM_003339	NP_003330	P62837	UB2D2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		3	730	+			35					D3DQC9|P51669|Q3MN78|Q96RP6	Missense_Mutation	SNP	ENST00000398733.3	37	c.104C>T	CCDS43369.1	.	.	.	.	.	.	.	.	.	.	C	34	5.369725	0.95900	.	.	ENSG00000131508	ENST00000511725;ENST00000398733;ENST00000253815;ENST00000505007;ENST00000398734;ENST00000505548	T;T;T;T;T;T	0.71341	-0.56;0.91;-0.56;-0.56;0.91;-0.56	5.9	5.9	0.94986	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.81327	0.4799	L	0.48260	1.515	0.80722	D	1	D	0.89917	1.0	D	0.70716	0.97	T	0.81651	-0.0836	10	0.87932	D	0	.	20.2821	0.98520	0.0:1.0:0.0:0.0	.	35	P62837	UB2D2_HUMAN	V	6;35;6;6;35;6	ENSP00000429613:A6V;ENSP00000381717:A35V;ENSP00000253815:A6V;ENSP00000426523:A6V;ENSP00000381718:A35V;ENSP00000424941:A6V	ENSP00000253815:A6V	A	+	2	0	UBE2D2	138974370	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.729000	0.84864	2.786000	0.95864	0.563000	0.77884	GCT		PASS	0.313	UBE2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372454.3	NM_181838		18	80	18	80	---	---	---	---
PCDHGB6	56100	broad.mit.edu	37	5	140788511	140788511	+	Nonsense_Mutation	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:140788511A>T	ENST00000520790.1	+	1	742	c.742A>T	c.(742-744)Aga>Tga	p.R248*	PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1	Q9Y5F9	PCDGI_HUMAN	protocadherin gamma subfamily B, 6	248	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R248*(1)		breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGACGAATATAGAATTAGTCT	0.493																																						uc003lkj.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(742-744)AGA>TGA		protocadherin gamma subfamily B, 6 isoform 1							33.0	35.0	34.0					5																	140788511		1846	4095	5941	SO:0001587	stop_gained	56100				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140788511A>T	AF152522	CCDS54929.1, CCDS75342.1	5q31	2010-01-26				ENSG00000253305		"""Cadherins / Protocadherins : Clustered"""	8713	other	protocadherin		606303				10380929	Standard	NM_018926		Approved	PCDH-GAMMA-B6		Q9Y5F9		ENST00000520790.1:c.742A>T	5.37:g.140788511A>T	ENSP00000428603:p.Arg248*					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lki.1_Nonsense_Mutation_p.R248*	p.R248*	NM_018926	NP_061749	Q9Y5F9	PCDGI_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	742	+			248			Extracellular (Potential).|Cadherin 3.		Q9Y5C5	Nonsense_Mutation	SNP	ENST00000520790.1	37	c.742A>T	CCDS54929.1	.	.	.	.	.	.	.	.	.	.	a	20.9	4.066937	0.76301	.	.	ENSG00000253305	ENST00000520790	.	.	.	5.34	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4798	0.38893	0.7552:0.1315:0.0:0.1133	.	.	.	.	X	248	.	ENSP00000428603:R248X	R	+	1	2	PCDHGB6	140768695	0.000000	0.05858	0.559000	0.28332	0.732000	0.41865	0.906000	0.28517	0.828000	0.34709	0.383000	0.25322	AGA		PASS	0.493	PCDHGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374746.1	NM_018926		4	20	4	20	---	---	---	---
DIAPH1	1729	broad.mit.edu	37	5	140958124	140958124	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:140958124G>A	ENST00000398557.4	-	10	1142	c.1002C>T	c.(1000-1002)atC>atT	p.I334I	DIAPH1_ENST00000389057.5_Silent_p.I325I|DIAPH1_ENST00000518047.1_Silent_p.I325I|DIAPH1_ENST00000398566.3_Silent_p.I325I|DIAPH1_ENST00000253811.6_Silent_p.I334I|DIAPH1_ENST00000520569.1_Silent_p.I280I|DIAPH1_ENST00000398562.2_Silent_p.I325I|DIAPH1_ENST00000389054.3_Silent_p.I334I	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1	334	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)	p.I334I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTTCACTTCTGATGTGAACTC	0.448																																						uc003llb.3																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1000-1002)ATC>ATT		diaphanous 1 isoform 1							144.0	141.0	142.0					5																	140958124		1998	4177	6175	SO:0001819	synonymous_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140958124G>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.1002C>T	5.37:g.140958124G>A						DIAPH1_uc003llc.3_Silent_p.I325I	p.I334I	NM_005219	NP_005210	O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		10	1143	-			334			GBD/FH3.		A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Silent	SNP	ENST00000398557.4	37	c.1002C>T	CCDS43374.1																																																																																				PASS	0.448	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219		36	118	36	118	---	---	---	---
JAKMIP2	9832	broad.mit.edu	37	5	147051264	147051264	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:147051264C>G	ENST00000265272.5	-	2	573	c.106G>C	c.(106-108)Gag>Cag	p.E36Q	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.E36Q|JAKMIP2_ENST00000333010.6_Intron	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	36						Golgi apparatus (GO:0005794)		p.E36Q(1)		NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGATGCAGCTCTATCTGAATG	0.547																																						uc003loq.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)	2						c.(106-108)GAG>CAG		janus kinase and microtubule interacting protein							170.0	138.0	149.0					5																	147051264		2203	4300	6503	SO:0001583	missense	9832					Golgi apparatus		g.chr5:147051264C>G	AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.106G>C	5.37:g.147051264C>G	ENSP00000265272:p.Glu36Gln					JAKMIP2_uc011dbx.1_Intron|JAKMIP2_uc003lor.1_Missense_Mutation_p.E36Q|JAKMIP2_uc010jgo.1_Missense_Mutation_p.E36Q	p.E36Q	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	488	-			36			Potential.		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	ENST00000265272.5	37	c.106G>C	CCDS4285.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739933	0.89573	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000539401	T;T	0.36878	1.23;1.23	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.60483	0.2272	M	0.73962	2.25	0.80722	D	1	D;D;D	0.61080	0.989;0.989;0.989	D;D;D	0.70487	0.969;0.969;0.969	T	0.61681	-0.7013	10	0.42905	T	0.14	.	18.2676	0.90056	0.0:1.0:0.0:0.0	.	36;36;36	Q96AA8-3;G5E9Y0;Q96AA8	.;.;JKIP2_HUMAN	Q	36	ENSP00000421398:E36Q;ENSP00000265272:E36Q	ENSP00000265272:E36Q	E	-	1	0	JAKMIP2	147031457	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.456000	0.80751	2.483000	0.83821	0.555000	0.69702	GAG		PASS	0.547	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251941.1	NM_014790		14	32	14	32	---	---	---	---
SLC36A2	153201	broad.mit.edu	37	5	150726878	150726878	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:150726878C>T	ENST00000335244.4	-	1	273	c.144G>A	c.(142-144)ttG>ttA	p.L48L	SLC36A2_ENST00000521967.1_Silent_p.L48L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	48					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)	p.L48L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	TGGTCTTCTTCAAGCCTGCTG	0.473																																						uc003lty.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(142-144)TTG>TTA		solute carrier family 36, member 2							176.0	167.0	170.0					5																	150726878		2203	4300	6503	SO:0001819	synonymous_variant	153201				cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity	g.chr5:150726878C>T	AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.144G>A	5.37:g.150726878C>T						GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_5'UTR|SLC36A2_uc010jhv.2_Silent_p.L48L|SLC36A2_uc011dct.1_Silent_p.L48L	p.L48L	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		1	274	-		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	48			Cytoplasmic (Potential).		Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Silent	SNP	ENST00000335244.4	37	c.144G>A	CCDS4315.1																																																																																				PASS	0.473	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252437.1			42	154	42	154	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150907667	150907667	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:150907667G>T	ENST00000261800.5	-	15	10066	c.10054C>A	c.(10054-10056)Cta>Ata	p.L3352I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3352	Cadherin 30. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L3352I(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACTATTTAGGGGTCCATCT	0.542																																						uc003lue.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(10054-10056)CTA>ATA		FAT tumor suppressor 2 precursor							118.0	108.0	111.0					5																	150907667		2203	4300	6503	SO:0001583	missense	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150907667G>T	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.10054C>A	5.37:g.150907667G>T	ENSP00000261800:p.Leu3352Ile					GM2A_uc011dcs.1_Intron|FAT2_uc003lud.3_Missense_Mutation_p.L45I	p.L3352I	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		15	10067	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	3352			Cadherin 30.|Extracellular (Potential).		O75091|Q9NSR7	Missense_Mutation	SNP	ENST00000261800.5	37	c.10054C>A	CCDS4317.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.281|8.281	0.815496|0.815496	0.16607|0.16607	.|.	.|.	ENSG00000086570|ENSG00000086570	ENST00000261800|ENST00000520200	T|T	0.53640|0.53857	0.61|0.6	5.73|5.73	-1.22|-1.22	0.09494|0.09494	Cadherin (4);Cadherin-like (1);|.	1.006500|.	0.07996|.	N|.	0.987965|.	T|T	0.29158|0.29158	0.0725|0.0725	N|N	0.11673|0.11673	0.155|0.155	0.09310|0.09310	N|N	1|1	B;B|.	0.09022|.	0.001;0.002|.	B;B|.	0.13407|.	0.009;0.006|.	T|T	0.24835|0.24835	-1.0149|-1.0149	10|7	0.37606|0.52906	T|T	0.19|0.07	.|.	3.4978|3.4978	0.07661|0.07661	0.1474:0.4355:0.2348:0.1824|0.1474:0.4355:0.2348:0.1824	.|.	3352;543|.	Q9NYQ8;E9PDJ8|.	FAT2_HUMAN;.|.	I|H	3352|210	ENSP00000261800:L3352I|ENSP00000429678:P210H	ENSP00000261800:L3352I|ENSP00000429678:P210H	L|P	-|-	1|2	2|0	FAT2|FAT2	150887860|150887860	0.000000|0.000000	0.05858|0.05858	0.139000|0.139000	0.22197|0.22197	0.986000|0.986000	0.74619|0.74619	-0.337000|-0.337000	0.07852|0.07852	0.007000|0.007000	0.14760|0.14760	0.643000|0.643000	0.83706|0.83706	CTA|CCT		PASS	0.542	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		17	86	17	86	---	---	---	---
IL12B	3593	broad.mit.edu	37	5	158747368	158747368	+	Missense_Mutation	SNP	C	C	A	rs79446920		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:158747368C>A	ENST00000231228.2	-	5	1098	c.643G>T	c.(643-645)Gtt>Ttt	p.V215F	RNU4ATAC2P_ENST00000408674.1_RNA	NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B	215					cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|defense response to Gram-negative bacterium (GO:0050829)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|interferon-gamma biosynthetic process (GO:0042095)|natural killer cell activation (GO:0030101)|natural killer cell activation involved in immune response (GO:0002323)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of cell adhesion (GO:0045785)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of mononuclear cell proliferation (GO:0032946)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|response to UV-B (GO:0010224)|sensory perception of pain (GO:0019233)|sexual reproduction (GO:0019953)|T-helper 1 type immune response (GO:0042088)|T-helper cell differentiation (GO:0042093)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|interleukin-12 complex (GO:0043514)|interleukin-23 complex (GO:0070743)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)|identical protein binding (GO:0042802)|interleukin-12 alpha subunit binding (GO:0042164)|interleukin-12 receptor binding (GO:0005143)|protein heterodimerization activity (GO:0046982)	p.V215F(1)		cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGCTTGTGAACGGCATCCACC	0.483																																						uc003lxr.1																			1	Substitution - Missense(1)		lung(1)		0						c.(643-645)GTT>TTT		interleukin 12B precursor							169.0	149.0	156.0					5																	158747368		2203	4300	6503	SO:0001583	missense	3593				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity	g.chr5:158747368C>A	M65290	CCDS4346.1	5q31.1-q33.1	2014-09-17	2014-04-04		ENSG00000113302	ENSG00000113302		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5970	protein-coding gene	gene with protein product	"""natural killer cell stimulatory factor-2"", ""cytotoxic lymphocyte maturation factor 2, p40"", ""interleukin 12, p40"", ""natural killer cell stimulatory factor, 40 kD subunit"", ""interleukin-12 beta chain"", ""IL12, subunit p40"""	161561	"""interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)"""	NKSF2		1673147	Standard	NM_002187		Approved	CLMF, IL-12B, NKSF, CLMF2	uc003lxr.1	P29460	OTTHUMG00000130307	ENST00000231228.2:c.643G>T	5.37:g.158747368C>A	ENSP00000231228:p.Val215Phe						p.V215F	NM_002187	NP_002178	P29460	IL12B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		5	685	-	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	215						Missense_Mutation	SNP	ENST00000231228.2	37	c.643G>T	CCDS4346.1	.	.	.	.	.	.	.	.	.	.	C	3.901	-0.022105	0.07634	.	.	ENSG00000113302	ENST00000231228	T	0.18810	2.19	5.28	-6.08	0.02151	Fibronectin, type III (1);Interleukin-12, beta subunit, central domain (1);Immunoglobulin-like fold (1);	0.878975	0.10236	N	0.699001	T	0.20659	0.0497	M	0.65975	2.015	0.09310	N	1	P	0.35011	0.48	B	0.37267	0.245	T	0.08330	-1.0727	10	0.42905	T	0.14	-0.2775	9.9015	0.41351	0.0:0.235:0.1067:0.6583	.	215	P29460	IL12B_HUMAN	F	215	ENSP00000231228:V215F	ENSP00000231228:V215F	V	-	1	0	IL12B	158679946	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-1.381000	0.02549	-1.570000	0.01665	-1.579000	0.00862	GTT		PASS	0.483	IL12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252652.2	NM_002187		25	102	25	102	---	---	---	---
CREBRF	153222	broad.mit.edu	37	5	172513617	172513617	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:172513617C>T	ENST00000296953.2	+	3	442	c.123C>T	c.(121-123)ttC>ttT	p.F41F	CREBRF_ENST00000522692.1_Silent_p.F41F|CREBRF_ENST00000520420.1_Silent_p.F41F|CREBRF_ENST00000540014.1_Silent_p.F41F	NM_153607.2	NP_705835.2	Q8IUR6	CRERF_HUMAN	CREB3 regulatory factor	41					negative regulation of endoplasmic reticulum unfolded protein response (GO:1900102)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of intracellular transport (GO:0032388)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein transport (GO:0051222)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F41F(1)									ATCCAGATTTCATGTATGAAC	0.403																																						uc003mch.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(121-123)TTC>TTT		luman-recruiting factor							162.0	147.0	152.0					5																	172513617		2203	4300	6503	SO:0001819	synonymous_variant	153222						protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:172513617C>T	AY139008	CCDS34293.1, CCDS54948.1	5q35.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164463	ENSG00000164463			24050	protein-coding gene	gene with protein product	"""luman/CREB3 recruitment factor"""		"""chromosome 5 open reading frame 41"""	C5orf41		18391022	Standard	NM_153607		Approved	LRF	uc003mch.3	Q8IUR6	OTTHUMG00000163322	ENST00000296953.2:c.123C>T	5.37:g.172513617C>T						C5orf41_uc003mcg.2_Silent_p.F41F|C5orf41_uc003mcf.2_Silent_p.F41F|C5orf41_uc011dfd.1_Silent_p.F41F	p.F41F	NM_153607	NP_705835	Q8IUR6	CE041_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		3	427	+	Renal(175;0.000159)|Lung NSC(126;0.00223)|all_lung(126;0.00391)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	41					B3DFH2|B3KW49|D3DQM2|F5GXN3|Q5HYG4|Q5HYK0|Q86YR3|Q8IZG1	Silent	SNP	ENST00000296953.2	37	c.123C>T	CCDS34293.1																																																																																				PASS	0.403	CREBRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372667.1	NM_153607		25	96	25	96	---	---	---	---
DDX41	51428	broad.mit.edu	37	5	176943821	176943821	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:176943821C>A	ENST00000507955.1	-	2	566	c.43G>T	c.(43-45)Gag>Tag	p.E15*	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	15					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E15*(1)				all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCAGGCACCTCGTCGGTGCGA	0.687																																						uc003mho.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(43-45)GAG>TAG		DEAD-box protein abstrakt							40.0	35.0	37.0					5																	176943821		2200	4299	6499	SO:0001587	stop_gained	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176943821C>A	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.43G>T	5.37:g.176943821C>A	ENSP00000422753:p.Glu15*					DDX41_uc003mhm.2_5'Flank|DDX41_uc003mhn.2_5'UTR|DDX41_uc003mhp.2_5'UTR|DDX41_uc003mhq.1_5'UTR	p.E15*	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		2	64	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	15					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Nonsense_Mutation	SNP	ENST00000507955.1	37	c.43G>T	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883308	0.72410	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	.	.	.	4.85	3.05	0.35203	.	0.937506	0.09070	N	0.852993	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-14.2336	8.6154	0.33829	0.0:0.7644:0.1526:0.0831	.	.	.	.	X	33;15	.	ENSP00000330349:E33X	E	-	1	0	DDX41	176876427	0.944000	0.32072	0.379000	0.26080	0.199000	0.23934	3.714000	0.54889	0.714000	0.32081	-0.229000	0.12294	GAG		PASS	0.687	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		9	25	9	25	---	---	---	---
MGAT1	4245	broad.mit.edu	37	5	180219415	180219415	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr5:180219415G>A	ENST00000446023.2	-	3	1307	c.557C>T	c.(556-558)gCg>gTg	p.A186V	MGAT1_ENST00000307826.4_Missense_Mutation_p.A186V|MGAT1_ENST00000427865.2_Missense_Mutation_p.A186V|MGAT1_ENST00000333055.3_Missense_Mutation_p.A186V|MGAT1_ENST00000393340.3_Missense_Mutation_p.A186V	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	186					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine catabolic process (GO:0006049)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	acetylglucosaminyltransferase activity (GO:0008375)|alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity (GO:0003827)|metal ion binding (GO:0046872)	p.A186V(1)		endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTAGTGGCGCGCGATCTTGTA	0.687																																						uc003mmg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(556-558)GCG>GTG		mannosyl (alpha-1,3-)-glycoprotein							40.0	47.0	45.0					5																	180219415		2200	4293	6493	SO:0001583	missense	4245				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr5:180219415G>A	M61829	CCDS4458.1	5q35.3	2013-02-25			ENSG00000131446	ENSG00000131446	2.4.1.101	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7044	protein-coding gene	gene with protein product		160995		MGAT, GLYT1		1827260	Standard	NM_002406		Approved	GNT-1, GLCNAC-TI	uc003mmg.4	P26572	OTTHUMG00000130937	ENST00000446023.2:c.557C>T	5.37:g.180219415G>A	ENSP00000404718:p.Ala186Val					MGAT1_uc010jlf.2_Missense_Mutation_p.A186V|MGAT1_uc010jlg.2_Missense_Mutation_p.A186V|MGAT1_uc003mmh.3_Missense_Mutation_p.A186V|MGAT1_uc010jlh.2_Missense_Mutation_p.A186V|MGAT1_uc003mmi.3_Missense_Mutation_p.A186V	p.A186V	NM_002406	NP_002397	P26572	MGAT1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	1052	-	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	186			Lumenal (Potential).		A8K404|B3KRU8|D3DWR1|Q6IBE3	Missense_Mutation	SNP	ENST00000446023.2	37	c.557C>T	CCDS4458.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.854852	0.91355	.	.	ENSG00000131446	ENST00000333055;ENST00000307826;ENST00000446023;ENST00000393340;ENST00000427865;ENST00000504671	D;D;D;D;D;D	0.87966	-2.32;-2.32;-2.32;-2.32;-2.32;-2.32	5.09	5.09	0.68999	.	0.122706	0.53938	D	0.000054	D	0.93347	0.7879	M	0.81497	2.545	0.54753	D	0.999989	D	0.89917	1.0	D	0.75020	0.985	D	0.93820	0.7118	10	0.87932	D	0	-22.0049	16.3966	0.83607	0.0:0.0:1.0:0.0	.	186	P26572	MGAT1_HUMAN	V	186	ENSP00000332073:A186V;ENSP00000311888:A186V;ENSP00000404718:A186V;ENSP00000377010:A186V;ENSP00000402838:A186V;ENSP00000424891:A186V	ENSP00000311888:A186V	A	-	2	0	MGAT1	180152021	0.998000	0.40836	0.698000	0.30274	0.879000	0.50718	6.832000	0.75329	2.811000	0.96726	0.655000	0.94253	GCG		PASS	0.687	MGAT1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368189.1	NM_001114618		20	46	20	46	---	---	---	---
IRF4	3662	broad.mit.edu	37	6	401436	401436	+	Missense_Mutation	SNP	A	A	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:401436A>C	ENST00000380956.4	+	7	884	c.758A>C	c.(757-759)cAc>cCc	p.H253P		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	253					cytokine-mediated signaling pathway (GO:0019221)|defense response to protozoan (GO:0042832)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|interferon-gamma-mediated signaling pathway (GO:0060333)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of DNA binding (GO:0043388)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of interleukin-13 biosynthetic process (GO:0045368)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of T-helper cell differentiation (GO:0045622)|T cell activation (GO:0042110)|T-helper 17 cell lineage commitment (GO:0072540)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|membrane (GO:0016020)|nuclear nucleosome (GO:0000788)|nucleus (GO:0005634)	protein-lysine N-methyltransferase activity (GO:0016279)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.H253P(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		TGCCGGCTGCACATCTGCCTG	0.617			T	IGH@	MM																																	uc003msz.3				Dom	yes		6	6p25-p23	3662	T	interferon regulatory factor 4			L	IGH@		MM 		1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(757-759)CAC>CCC		interferon regulatory factor 4							46.0	41.0	43.0					6																	401436		2203	4300	6503	SO:0001583	missense	3662				interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr6:401436A>C	U52682	CCDS4469.1	6p25-p23	2008-08-29			ENSG00000137265	ENSG00000137265			6119	protein-coding gene	gene with protein product		601900		MUM1		8921401, 18417578	Standard	NM_002460		Approved	LSIRF	uc003msz.4	Q15306	OTTHUMG00000016294	ENST00000380956.4:c.758A>C	6.37:g.401436A>C	ENSP00000370343:p.His253Pro					IRF4_uc010jne.1_Missense_Mutation_p.H253P|IRF4_uc003mta.3_RNA|IRF4_uc003mtb.3_Missense_Mutation_p.H252P|IRF4_uc003mtc.1_Missense_Mutation_p.H83P	p.H253P	NM_002460	NP_002451	Q15306	IRF4_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)	7	871	+		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)	253					Q5VUI7|Q99660	Missense_Mutation	SNP	ENST00000380956.4	37	c.758A>C	CCDS4469.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.431539	0.83776	.	.	ENSG00000137265	ENST00000380956;ENST00000412334	D	0.95137	-3.62	5.53	5.53	0.82687	SMAD domain-like (1);SMAD/FHA domain (1);Interferon regulatory factor-3 (1);	0.087288	0.85682	D	0.000000	D	0.96027	0.8706	M	0.71036	2.16	0.80722	D	1	D;B;D;D	0.76494	0.994;0.295;0.993;0.999	D;B;D;D	0.72982	0.968;0.246;0.921;0.979	D	0.95395	0.8485	10	0.38643	T	0.18	-35.5734	15.6645	0.77217	1.0:0.0:0.0:0.0	.	253;283;252;253	F2Z3D5;Q99419;Q15306-2;Q15306	.;.;.;IRF4_HUMAN	P	253;282	ENSP00000370343:H253P	ENSP00000370343:H253P	H	+	2	0	IRF4	346436	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.904000	0.92590	2.086000	0.62901	0.460000	0.39030	CAC		PASS	0.617	IRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043638.1			13	27	13	27	---	---	---	---
ERVFRD-1	405754	broad.mit.edu	37	6	11105243	11105243	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:11105243G>T	ENST00000472091.1	-	2	676	c.301C>A	c.(301-303)Cct>Act	p.P101T	SMIM13_ENST00000416247.2_Intron|ERVFRD-1_ENST00000542862.1_Missense_Mutation_p.P101T	NM_207582.2	NP_997465.1	P60508	SYCY2_HUMAN	endogenous retrovirus group FRD, member 1	101					syncytium formation (GO:0006949)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral envelope (GO:0019031)		p.P101T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(4)|stomach(1)	15						CGGATATCAGGGAAATCTTGC	0.418																																						uc003mzt.2																			1	Substitution - Missense(1)		lung(1)		0						c.(301-303)CCT>ACT		syncytin 2							118.0	116.0	117.0					6																	11105243		2203	4300	6503	SO:0001583	missense	405754					integral to membrane|plasma membrane|virion		g.chr6:11105243G>T	AK075092, AK123938, AY358244	CCDS4519.1	6p24.2	2014-05-02			ENSG00000244476	ENSG00000244476			33823	other	endogenous retrovirus		610524				12970426, 14557543, 15476554, 21542922	Standard	NM_207582		Approved	HERV-W/FRD, HERV-FRD, envFRD, ERVFRDE1, syncytin-2	uc003mzt.3	P60508	OTTHUMG00000159193	ENST00000472091.1:c.301C>A	6.37:g.11105243G>T	ENSP00000420174:p.Pro101Thr					LOC221710_uc003mzr.2_Intron|LOC221710_uc011dio.1_Intron	p.P101T	NM_207582	NP_997465	P60508	EFRD1_HUMAN			2	671	-			101			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000472091.1	37	c.301C>A	CCDS4519.1	.	.	.	.	.	.	.	.	.	.	G	11.52	1.663964	0.29604	.	.	ENSG00000244476	ENST00000472091;ENST00000542862	T;T	0.15718	2.4;2.4	0.235	0.235	0.15431	.	.	.	.	.	T	0.03053	0.0090	N	0.17082	0.46	0.09310	N	1	P	0.42993	0.797	B	0.37650	0.255	T	0.35500	-0.9786	8	0.52906	T	0.07	.	.	.	.	.	101	P60508	EFRD1_HUMAN	T	101	ENSP00000420174:P101T;ENSP00000444461:P101T	ENSP00000420174:P101T	P	-	1	0	ERVFRD-1	11213229	0.604000	0.26932	0.269000	0.24586	0.273000	0.26683	0.364000	0.20325	0.308000	0.22923	0.313000	0.20887	CCT		PASS	0.418	ERVFRD-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353776.1	NM_207582		26	135	26	135	---	---	---	---
NEDD9	4739	broad.mit.edu	37	6	11185539	11185539	+	Silent	SNP	G	G	C	rs145403433		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:11185539G>C	ENST00000379446.5	-	7	2527	c.2361C>G	c.(2359-2361)ctC>ctG	p.L787L	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Silent_p.L787L	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	787					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)		p.L787L(3)		endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CTATGGTCTTGAGCTGCTCGC	0.542																																						uc003mzv.2																			3	Substitution - coding silent(3)		lung(3)		0						c.(2359-2361)CTC>CTG		neural precursor cell expressed, developmentally							194.0	171.0	178.0					6																	11185539		2203	4300	6503	SO:0001819	synonymous_variant	4739				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding	g.chr6:11185539G>C	L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.2361C>G	6.37:g.11185539G>C						NEDD9_uc010joz.2_Silent_p.L787L|NEDD9_uc003mzw.3_Silent_p.L641L	p.L787L	NM_006403	NP_006394	Q14511	CASL_HUMAN	Epithelial(50;0.0647)|all cancers(50;0.179)		7	2528	-	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	787					A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Silent	SNP	ENST00000379446.5	37	c.2361C>G	CCDS4520.1																																																																																				PASS	0.542	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039853.2	NM_006403		64	120	64	120	---	---	---	---
HIVEP1	3096	broad.mit.edu	37	6	12124483	12124483	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:12124483G>A	ENST00000379388.2	+	4	4787	c.4455G>A	c.(4453-4455)caG>caA	p.Q1485Q	HIVEP1_ENST00000541134.1_5'Flank	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1485					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q1485Q(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TGCACTCTCAGACTCAGGTTA	0.423																																						uc003nac.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(4453-4455)CAG>CAA		human immunodeficiency virus type I enhancer							100.0	94.0	95.0					6																	12124483		1915	4150	6065	SO:0001819	synonymous_variant	3096				transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr6:12124483G>A	J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.4455G>A	6.37:g.12124483G>A						HIVEP1_uc011diq.1_RNA	p.Q1485Q	NM_002114	NP_002105	P15822	ZEP1_HUMAN			4	4634	+	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)	1485					B2RTU3|Q14122|Q5MPB1|Q5VW60	Silent	SNP	ENST00000379388.2	37	c.4455G>A	CCDS43426.1																																																																																				PASS	0.423	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039870.2	NM_002114		12	78	12	78	---	---	---	---
HIST1H2BF	8343	broad.mit.edu	37	6	26199929	26199929	+	Missense_Mutation	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:26199929A>T	ENST00000359985.1	+	1	182	c.143A>T	c.(142-144)cAg>cTg	p.Q48L	HIST1H2AD_ENST00000341023.1_5'Flank|HIST1H3D_ENST00000377831.5_5'Flank|HIST1H3D_ENST00000356476.2_5'Flank	NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	48					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q48L(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				GTGCTAAAGCAGGTCCACCCC	0.567																																						uc003ngx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(142-144)CAG>CTG		histone cluster 1, H2bf							233.0	214.0	220.0					6																	26199929		2203	4300	6503	SO:0001583	missense	8343				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26199929A>T	Z80779	CCDS4592.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000197846	ENSG00000277224		"""Histones / Replication-dependent"""	4752	protein-coding gene	gene with protein product		602804	"""H2B histone family, member G"", ""histone 1, H2bf"""	H2BFG		9119399, 12408966	Standard	NM_003522		Approved	H2B/g	uc003ngx.3	P62807	OTTHUMG00000014445	ENST00000359985.1:c.143A>T	6.37:g.26199929A>T	ENSP00000353074:p.Gln48Leu					HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	p.Q48L	NM_003522	NP_003513	P62807	H2B1C_HUMAN			1	143	+		all_hematologic(11;0.196)	48					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000359985.1	37	c.143A>T	CCDS4592.1	.	.	.	.	.	.	.	.	.	.	.	17.54	3.414230	0.62511	.	.	ENSG00000197846	ENST00000359985	T	0.28895	1.59	3.89	3.89	0.44902	.	0.000000	0.38959	N	0.001512	T	0.34803	0.0910	.	.	.	0.36341	D	0.859495	.	.	.	.	.	.	T	0.34576	-0.9823	7	0.87932	D	0	.	12.5787	0.56378	1.0:0.0:0.0:0.0	.	.	.	.	L	48	ENSP00000353074:Q48L	ENSP00000353074:Q48L	Q	+	2	0	HIST1H2BF	26307908	1.000000	0.71417	0.999000	0.59377	0.030000	0.12068	9.062000	0.93920	1.707000	0.51288	0.528000	0.53228	CAG		PASS	0.567	HIST1H2BF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040108.1	NM_003522		46	257	46	257	---	---	---	---
AGPAT1	10554	broad.mit.edu	37	6	32138256	32138256	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:32138256C>T	ENST00000395499.1	-	4	1035	c.456G>A	c.(454-456)acG>acA	p.T152T	AGPAT1_ENST00000395497.1_Silent_p.T152T|PPT2-EGFL8_ENST00000422437.1_3'UTR|AGPAT1_ENST00000412465.2_Silent_p.T40T|AGPAT1_ENST00000375107.3_Silent_p.T152T|AGPAT1_ENST00000375104.2_Silent_p.T152T|AGPAT1_ENST00000336984.6_Silent_p.T152T|AGPAT1_ENST00000395496.1_Silent_p.T152T|AGPAT1_ENST00000490711.1_Intron			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	152					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)	p.T152T(1)		central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						TGGCATCCCCCGTGCGCTTCC	0.627																																						uc003oae.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(454-456)ACG>ACA		1-acylglycerol-3-phosphate O-acyltransferase 1							79.0	82.0	81.0					6																	32138256		1511	2709	4220	SO:0001819	synonymous_variant	10554				energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr6:32138256C>T	U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.456G>A	6.37:g.32138256C>T						PPT2_uc003nzy.1_RNA|AGPAT1_uc011dpj.1_RNA|AGPAT1_uc011dpk.1_Silent_p.T116T|AGPAT1_uc003oaf.2_Silent_p.T152T|AGPAT1_uc003oag.2_Intron|AGPAT1_uc003oah.2_Silent_p.T152T|AGPAT1_uc003oai.1_Silent_p.T152T|AGPAT1_uc011dpl.1_Silent_p.T40T	p.T152T	NM_006411	NP_006402	Q99943	PLCA_HUMAN			4	774	-			152					A2BFI5|Q5BL03	Silent	SNP	ENST00000395499.1	37	c.456G>A	CCDS4744.1																																																																																				PASS	0.627	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268941.1	NM_006411		36	65	36	65	---	---	---	---
UHRF1BP1	54887	broad.mit.edu	37	6	34835144	34835144	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:34835144C>T	ENST00000192788.5	+	16	3726	c.3555C>T	c.(3553-3555)ctC>ctT	p.L1185L	UHRF1BP1_ENST00000452449.2_Silent_p.L1185L	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1185							histone deacetylase binding (GO:0042826)|identical protein binding (GO:0042802)	p.L1185L(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GAGAAGACCTCATCTTTCACC	0.493																																						uc003oju.3																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(3553-3555)CTC>CTT		ICBP90 binding protein 1							114.0	113.0	113.0					6																	34835144		1925	4121	6046	SO:0001819	synonymous_variant	54887							g.chr6:34835144C>T	AB126777	CCDS43455.1	6p21.31	2008-10-28	2008-08-15	2007-11-27	ENSG00000065060	ENSG00000065060			21216	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 107"""	C6orf107			Standard	NM_017754		Approved	FLJ20302, dJ349A12.1, ICBP90	uc003oju.4	Q6BDS2	OTTHUMG00000014557	ENST00000192788.5:c.3555C>T	6.37:g.34835144C>T						UHRF1BP1_uc010jvm.1_RNA|UHRF1BP1_uc010jvn.2_RNA|UHRF1BP1_uc010jvo.2_RNA	p.L1185L	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN			16	3789	+			1185					Q9NXE0	Silent	SNP	ENST00000192788.5	37	c.3555C>T	CCDS43455.1																																																																																				PASS	0.493	UHRF1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040260.1	NM_017754		24	138	24	138	---	---	---	---
PNPLA1	285848	broad.mit.edu	37	6	36260877	36260877	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:36260877C>T	ENST00000394571.2	+	3	478	c.478C>T	c.(478-480)Ctc>Ttc	p.L160F	PNPLA1_ENST00000312917.5_Missense_Mutation_p.L65F|PNPLA1_ENST00000388715.3_Missense_Mutation_p.L65F	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	160	Patatin.				lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)	p.L65F(1)|p.L160F(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GTACTGTGGCCTCATCCCCCC	0.652																																						uc010jwf.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|pancreas(1)|breast(1)|skin(1)	4						c.(478-480)CTC>TTC		patatin-like phospholipase domain containing 1							122.0	100.0	108.0					6																	36260877		2203	4300	6503	SO:0001583	missense	285848				lipid catabolic process		hydrolase activity	g.chr6:36260877C>T		CCDS34438.1, CCDS47416.1, CCDS54997.1	6p21.31	2009-01-12			ENSG00000180316	ENSG00000180316		"""Patatin-like phospholipase domain containing"""	21246	protein-coding gene	gene with protein product		612121				16799181, 19029121	Standard	NM_001145717		Approved	FLJ38755, dJ50J22.1	uc010jwf.2	Q8N8W4	OTTHUMG00000014590	ENST00000394571.2:c.478C>T	6.37:g.36260877C>T	ENSP00000378072:p.Leu160Phe					PNPLA1_uc003olw.1_Missense_Mutation_p.L65F|PNPLA1_uc010jwe.1_Missense_Mutation_p.L65F	p.L160F	NM_001145717	NP_001139189	Q8N8W4	PLPL1_HUMAN			3	478	+			160			Patatin.		A3RMU3|J3JS20|Q2A6N1|Q3SY95|Q3SY96|Q5R3L2	Missense_Mutation	SNP	ENST00000394571.2	37	c.478C>T	CCDS54997.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877344	0.33162	.	.	ENSG00000180316	ENST00000388715;ENST00000312917;ENST00000457797;ENST00000394571	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.45	0.967	0.19674	Acyl transferase/acyl hydrolase/lysophospholipase (1);	0.548726	0.17299	N	0.179349	T	0.25865	0.0630	N	0.17631	0.505	0.28089	N	0.931893	B;B	0.20261	0.012;0.043	B;B	0.24006	0.016;0.05	T	0.20009	-1.0288	10	0.33141	T	0.24	-11.1155	7.3106	0.26473	0.1472:0.7211:0.0:0.1317	.	160;65	Q8N8W4;Q8N8W4-3	PLPL1_HUMAN;.	F	65;65;161;160	ENSP00000373367:L65F;ENSP00000321116:L65F;ENSP00000391868:L161F;ENSP00000378072:L160F	ENSP00000321116:L65F	L	+	1	0	PNPLA1	36368855	0.167000	0.22975	0.994000	0.49952	0.935000	0.57460	0.555000	0.23422	-0.129000	0.11620	0.655000	0.94253	CTC		PASS	0.652	PNPLA1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_173676		57	80	57	80	---	---	---	---
DNAH8	1769	broad.mit.edu	37	6	38813505	38813505	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:38813505G>C	ENST00000359357.3	+	34	4604	c.4350G>C	c.(4348-4350)ttG>ttC	p.L1450F	DNAH8_ENST00000441566.1_Missense_Mutation_p.L1450F|DNAH8_ENST00000449981.2_Missense_Mutation_p.L1667F			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1450					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.L1450F(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTATCACTTTGATGGAGGATA	0.363																																						uc003ooe.1																			2	Substitution - Missense(2)		lung(2)	skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(4348-4350)TTG>TTC		dynein, axonemal, heavy polypeptide 8							111.0	114.0	113.0					6																	38813505		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38813505G>C	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.4350G>C	6.37:g.38813505G>C	ENSP00000352312:p.Leu1450Phe						p.L1450F	NM_001371	NP_001362					34	4950	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.4350G>C		.	.	.	.	.	.	.	.	.	.	G	15.78	2.934455	0.52866	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T;T	0.64991	-0.13;0.02;0.02;0.02	5.49	3.7	0.42460	Dynein heavy chain, domain-2 (1);	0.194848	0.36234	N	0.002709	T	0.58538	0.2129	M	0.86420	2.815	0.37321	D	0.909547	B	0.31227	0.314	B	0.42163	0.378	T	0.62388	-0.6865	10	0.56958	D	0.05	.	7.4103	0.27014	0.1408:0.0:0.7247:0.1345	.	1450	Q96JB1	DYH8_HUMAN	F	1655;1655;1450;1450	ENSP00000415331:L1655F;ENSP00000333363:L1655F;ENSP00000352312:L1450F;ENSP00000402294:L1450F	ENSP00000333363:L1655F	L	+	3	2	DNAH8	38921483	0.181000	0.23161	0.998000	0.56505	0.997000	0.91878	0.324000	0.19610	0.686000	0.31488	0.644000	0.83932	TTG		PASS	0.363	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		34	62	34	62	---	---	---	---
FOXP4	116113	broad.mit.edu	37	6	41545800	41545800	+	Missense_Mutation	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:41545800A>T	ENST00000307972.4	+	2	293	c.281A>T	c.(280-282)cAg>cTg	p.Q94L	FOXP4_ENST00000373057.3_Missense_Mutation_p.Q94L|FOXP4_ENST00000373063.3_Missense_Mutation_p.Q94L|FOXP4_ENST00000373060.1_Missense_Mutation_p.Q94L|FOXP4_ENST00000409208.1_Missense_Mutation_p.Q94L			Q8IVH2	FOXP4_HUMAN	forkhead box P4	94	Gln-rich.				embryonic foregut morphogenesis (GO:0048617)|heart development (GO:0007507)|lung secretory cell differentiation (GO:0061140)|negative regulation of lung goblet cell differentiation (GO:1901250)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.Q94L(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					GACAGCAAACAGTCTGCCTCT	0.642																																						uc003oql.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(280-282)CAG>CTG		forkhead box P4 isoform 1							35.0	33.0	34.0					6																	41545800		2203	4300	6503	SO:0001583	missense	116113				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr6:41545800A>T	AB080747	CCDS4856.1, CCDS34447.1, CCDS34448.1	6p21.1	2008-02-05			ENSG00000137166	ENSG00000137166		"""Forkhead boxes"""	20842	protein-coding gene	gene with protein product		608924					Standard	XM_006714991		Approved	FLJ40908	uc003oql.3	Q8IVH2	OTTHUMG00000014679	ENST00000307972.4:c.281A>T	6.37:g.41545800A>T	ENSP00000309823:p.Gln94Leu					FOXP4_uc003oqm.2_Missense_Mutation_p.Q94L|FOXP4_uc003oqn.2_Missense_Mutation_p.Q94L	p.Q94L	NM_001012426	NP_001012426	Q8IVH2	FOXP4_HUMAN			3	739	+	Ovarian(28;0.0327)|Colorectal(47;0.196)		94			Gln-rich.		Q5W098|Q7Z7F8|Q8IW55|Q96E19	Missense_Mutation	SNP	ENST00000307972.4	37	c.281A>T	CCDS34447.1	.	.	.	.	.	.	.	.	.	.	A	26.8	4.770606	0.90108	.	.	ENSG00000137166	ENST00000373060;ENST00000373063;ENST00000409208;ENST00000373057;ENST00000307972;ENST00000451305	D;D;D;D;D;T	0.91464	-2.85;-2.83;-2.84;-2.83;-2.85;0.54	4.61	4.61	0.57282	.	0.164613	0.43579	D	0.000560	D	0.91791	0.7403	L	0.57536	1.79	0.58432	D	0.999992	D;D;D	0.54601	0.967;0.967;0.967	P;D;D	0.65140	0.901;0.932;0.932	D	0.92658	0.6139	10	0.62326	D	0.03	.	12.9927	0.58630	1.0:0.0:0.0:0.0	.	94;94;94	Q8IW55;Q7Z7F8;Q8IVH2	.;.;FOXP4_HUMAN	L	94;94;94;94;94;65	ENSP00000362151:Q94L;ENSP00000362154:Q94L;ENSP00000386958:Q94L;ENSP00000362148:Q94L;ENSP00000309823:Q94L;ENSP00000393704:Q65L	ENSP00000309823:Q94L	Q	+	2	0	FOXP4	41653778	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.668000	0.83897	1.723000	0.51488	0.482000	0.46254	CAG		PASS	0.642	FOXP4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000106767.1	NM_138457		10	18	10	18	---	---	---	---
PTK7	5754	broad.mit.edu	37	6	43114398	43114398	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:43114398G>A	ENST00000230419.4	+	17	2904	c.2683G>A	c.(2683-2685)Gaa>Aaa	p.E895K	PTK7_ENST00000352931.2_Missense_Mutation_p.E839K|PTK7_ENST00000345201.2_Missense_Mutation_p.E855K|PTK7_ENST00000349241.2_Missense_Mutation_p.E765K|PTK7_ENST00000481273.1_Missense_Mutation_p.E903K	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	895	Interaction with CTNNB1.|Protein kinase; inactive. {ECO:0000255|PROSITE-ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.E895K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GAGCAAGGATGAAAAATTGAA	0.562																																						uc003oub.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(2683-2685)GAA>AAA		PTK7 protein tyrosine kinase 7 isoform a							90.0	87.0	88.0					6																	43114398		2203	4300	6503	SO:0001583	missense	5754				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43114398G>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2683G>A	6.37:g.43114398G>A	ENSP00000230419:p.Glu895Lys					PTK7_uc003ouc.1_Missense_Mutation_p.E839K|PTK7_uc003oud.1_Missense_Mutation_p.E855K|PTK7_uc003oue.1_Missense_Mutation_p.E765K|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Missense_Mutation_p.E903K|PTK7_uc010jyj.1_Missense_Mutation_p.E221K	p.E895K	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		17	2881	+			895			Cytoplasmic (Potential).|Protein kinase; inactive.|Interaction with CTNNB1.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Missense_Mutation	SNP	ENST00000230419.4	37	c.2683G>A	CCDS4884.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.159390|4.159390	0.78226|0.78226	.|.	.|.	ENSG00000112655|ENSG00000112655	ENST00000230419;ENST00000325774;ENST00000349241;ENST00000352931;ENST00000345201;ENST00000481273;ENST00000473339|ENST00000489707	D;D;D;D;D;D|.	0.88896|.	-2.44;-2.44;-2.44;-2.44;-2.44;-2.44|.	5.33|5.33	4.46|4.46	0.54185|0.54185	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.169648|.	0.52532|.	D|.	0.000070|.	T|T	0.24851|0.24851	0.0603|0.0603	N|N	0.11845|0.11845	0.185|0.185	0.54753|0.54753	D|D	0.999983|0.999983	P;B;P;P;B;P|.	0.44429|.	0.605;0.063;0.591;0.835;0.336;0.536|.	P;B;P;P;B;P|.	0.45913|.	0.464;0.02;0.467;0.466;0.333;0.497|.	T|T	0.14172|0.14172	-1.0482|-1.0482	10|5	0.24483|.	T|.	0.36|.	.|.	14.4881|14.4881	0.67631|0.67631	0.0713:0.0:0.9287:0.0|0.0713:0.0:0.9287:0.0	.|.	903;221;765;855;839;895|.	E9PFZ5;F8W9X8;Q13308-3;Q13308-2;Q13308-4;Q13308|.	.;.;.;.;.;PTK7_HUMAN|.	K|I	895;221;765;839;855;903;163|189	ENSP00000230419:E895K;ENSP00000325462:E765K;ENSP00000326029:E839K;ENSP00000325992:E855K;ENSP00000418754:E903K;ENSP00000420186:E163K|.	ENSP00000230419:E895K|.	E|M	+|+	1|3	0|0	PTK7|PTK7	43222376|43222376	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.999000|0.999000	0.98932|0.98932	7.668000|7.668000	0.83897|0.83897	1.369000|1.369000	0.46134|0.46134	0.655000|0.655000	0.94253|0.94253	GAA|ATG		PASS	0.562	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			16	85	16	85	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51889423	51889423	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:51889423C>A	ENST00000371117.3	-	32	5460	c.5185G>T	c.(5185-5187)Gcc>Tcc	p.A1729S	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1729S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1729	IPT/TIG 12; atypical.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.A1729S(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AACACCAGGGCAGATGAGGCC	0.502																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(5185-5187)GCC>TCC		fibrocystin isoform 1							91.0	91.0	91.0					6																	51889423		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51889423C>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.5185G>T	6.37:g.51889423C>A	ENSP00000360158:p.Ala1729Ser					PKHD1_uc003pai.2_Missense_Mutation_p.A1729S	p.A1729S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			32	5461	-	Lung NSC(77;0.0605)		1729			IPT/TIG 12; atypical.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.5185G>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	C	13.29	2.192949	0.38707	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86694	-1.94;-2.16	5.64	-0.205	0.13196	Immunoglobulin-like fold (1);	2.109970	0.01872	N	0.037286	T	0.56171	0.1967	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.57081	-0.7872	10	0.05959	T	0.93	.	8.7631	0.34687	0.0:0.2875:0.0:0.7125	.	1729;1729	P08F94-2;P08F94	.;PKHD1_HUMAN	S	1729	ENSP00000360158:A1729S;ENSP00000341097:A1729S	ENSP00000341097:A1729S	A	-	1	0	PKHD1	51997382	0.000000	0.05858	0.000000	0.03702	0.415000	0.31203	0.185000	0.16958	0.026000	0.15269	-0.145000	0.13849	GCC		PASS	0.502	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		54	115	54	115	---	---	---	---
MLIP	90523	broad.mit.edu	37	6	54025350	54025350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:54025350G>T	ENST00000274897.5	+	6	900	c.787G>T	c.(787-789)Gag>Tag	p.E263*	MLIP_ENST00000509997.1_Intron|MLIP_ENST00000514921.1_Nonsense_Mutation_p.E787*|MLIP_ENST00000502396.1_Nonsense_Mutation_p.E798*|MLIP_ENST00000358276.5_Intron|MLIP_ENST00000370877.2_Intron|MLIP_ENST00000370876.2_Intron|MLIP_ENST00000511744.1_3'UTR	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein	263						nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.E263*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						GCAAACTGAAGAGCTCTGTGC	0.408																																						uc003pcg.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(787-789)GAG>TAG		hypothetical protein LOC90523							72.0	67.0	68.0					6																	54025350		2203	4300	6503	SO:0001587	stop_gained	90523					nuclear envelope|PML body	protein binding	g.chr6:54025350G>T	AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.787G>T	6.37:g.54025350G>T	ENSP00000274897:p.Glu263*					C6orf142_uc003pcf.2_Nonsense_Mutation_p.E787*|C6orf142_uc003pch.3_Intron|C6orf142_uc011dxa.1_Nonsense_Mutation_p.E798*	p.E263*	NM_138569	NP_612636	Q5VWP3	MLIP_HUMAN			6	900	+	Lung NSC(77;0.0317)		263					B7Z2N0|D6RE05|Q96H08|Q96NF7	Nonsense_Mutation	SNP	ENST00000274897.5	37	c.787G>T	CCDS4954.1	.	.	.	.	.	.	.	.	.	.	G	40	7.953157	0.98580	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000502396	.	.	.	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-5.298	16.9323	0.86193	0.0:0.0:1.0:0.0	.	.	.	.	X	263;787;798	.	ENSP00000274897:E263X	E	+	1	0	MLIP	54133309	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.773000	0.75006	2.600000	0.87896	0.467000	0.42956	GAG		PASS	0.408	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569		14	55	14	55	---	---	---	---
DST	667	broad.mit.edu	37	6	56374593	56374593	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:56374593C>A	ENST00000361203.3	-	69	17906	c.17899G>T	c.(17899-17901)Gca>Tca	p.A5967S	DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Missense_Mutation_p.A6078S|DST_ENST00000370754.5_Missense_Mutation_p.A6256S|DST_ENST00000370788.2_Missense_Mutation_p.A3881S|DST_ENST00000244364.6_Missense_Mutation_p.A3664S|DST_ENST00000446842.2_Missense_Mutation_p.A5752S|DST_ENST00000421834.2_Missense_Mutation_p.A3990S|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5968					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.A3664S(1)|p.A6078S(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAACCTCTGCAGAGATAGAG	0.458																																						uc003pdf.2																			2	Substitution - Missense(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(12502-12504)GCA>TCA		dystonin isoform 2							114.0	102.0	106.0					6																	56374593		1895	4131	6026	SO:0001583	missense	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56374593C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17899G>T	6.37:g.56374593C>A	ENSP00000354508:p.Ala5967Ser					DST_uc003pcz.3_Missense_Mutation_p.A3990S|DST_uc011dxj.1_Missense_Mutation_p.A4019S|DST_uc011dxk.1_Missense_Mutation_p.A4030S|DST_uc003pcy.3_Missense_Mutation_p.A3664S	p.A4168S	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		68	12530	-	Lung NSC(77;0.103)		6076			Spectrin 12.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37	c.12502G>T		.	.	.	.	.	.	.	.	.	.	C	19.32	3.805401	0.70682	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203;ENST00000537444	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	5.96	5.96	0.96718	.	0.000000	0.52532	D	0.000072	T	0.59432	0.2193	L	0.54323	1.7	0.30916	N	0.7285539999999999	D;D;D;P;D	0.89917	0.999;1.0;0.998;0.928;0.997	D;D;D;P;D	0.87578	0.998;0.992;0.952;0.809;0.965	T	0.48490	-0.9031	9	0.32370	T	0.25	.	20.4008	0.98991	0.0:1.0:0.0:0.0	.	3990;6078;6256;6076;3664	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	S	3664;6256;6078;3990;5752;3881;5967;80	ENSP00000244364:A3664S;ENSP00000359790:A6256S;ENSP00000359805:A6078S;ENSP00000400883:A3990S;ENSP00000393645:A5752S;ENSP00000359824:A3881S;ENSP00000354508:A5967S	ENSP00000244364:A3664S	A	-	1	0	DST	56482552	1.000000	0.71417	0.902000	0.35471	0.444000	0.32077	7.818000	0.86416	2.826000	0.97356	0.655000	0.94253	GCA		PASS	0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		30	46	30	46	---	---	---	---
DST	667	broad.mit.edu	37	6	56382353	56382353	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:56382353C>A	ENST00000361203.3	-	65	17242	c.17235G>T	c.(17233-17235)ctG>ctT	p.L5745L	DST_ENST00000340834.4_5'UTR|DST_ENST00000370769.4_Silent_p.L5856L|DST_ENST00000370754.5_Silent_p.L6034L|DST_ENST00000370788.2_Silent_p.L3659L|DST_ENST00000244364.6_Silent_p.L3442L|DST_ENST00000446842.2_Silent_p.L5530L|DST_ENST00000421834.2_Silent_p.L3768L|DST_ENST00000312431.6_3'UTR			Q03001	DYST_HUMAN	dystonin	5745					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.L5856L(1)|p.L3442L(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGATGTCACCCAGAGACATCA	0.383																																						uc003pdf.2																			2	Substitution - coding silent(2)		lung(2)	ovary(7)|central_nervous_system(6)|upper_aerodigestive_tract(1)	14						c.(11836-11838)CTG>CTT		dystonin isoform 2							75.0	68.0	70.0					6																	56382353		1860	4090	5950	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56382353C>A	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17235G>T	6.37:g.56382353C>A						DST_uc003pcz.3_Silent_p.L3768L|DST_uc011dxj.1_Silent_p.L3797L|DST_uc011dxk.1_Silent_p.L3808L|DST_uc003pcy.3_Silent_p.L3442L	p.L3946L	NM_001144769	NP_001138241	Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		64	11866	-	Lung NSC(77;0.103)		5854			Spectrin 10.		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.11838G>T																																																																																					PASS	0.383	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		5	35	5	35	---	---	---	---
PHIP	55023	broad.mit.edu	37	6	79650830	79650830	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:79650830G>C	ENST00000275034.4	-	40	5213	c.5046C>G	c.(5044-5046)atC>atG	p.I1682M	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1682					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)	p.I1682M(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CTTCATCTCTGATGGGATGCA	0.363																																						uc003pir.2																			2	Substitution - Missense(2)		lung(2)	large_intestine(2)|central_nervous_system(2)|upper_aerodigestive_tract(1)|ovary(1)	6						c.(5044-5046)ATC>ATG		pleckstrin homology domain interacting protein							188.0	178.0	181.0					6																	79650830		2203	4300	6503	SO:0001583	missense	55023				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding	g.chr6:79650830G>C	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.5046C>G	6.37:g.79650830G>C	ENSP00000275034:p.Ile1682Met					PHIP_uc003piq.2_Missense_Mutation_p.I706M|PHIP_uc011dyp.1_Missense_Mutation_p.I1681M|IRAK1BP1_uc010kbg.1_Intron|PHIP_uc003pio.3_Missense_Mutation_p.I568M	p.I1682M	NM_017934	NP_060404	Q8WWQ0	PHIP_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.231)	40	5272	-		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)	1682					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	ENST00000275034.4	37	c.5046C>G	CCDS4987.1	.	.	.	.	.	.	.	.	.	.	G	11.35	1.611895	0.28712	.	.	ENSG00000146247	ENST00000275034	T	0.40225	1.04	5.87	5.0	0.66597	.	0.637296	0.16634	N	0.205939	T	0.09069	0.0224	N	0.14661	0.345	0.30952	N	0.724575	B;B	0.25169	0.119;0.119	B;B	0.21917	0.037;0.037	T	0.17715	-1.0360	9	.	.	.	-0.5867	5.8718	0.18807	0.1571:0.0:0.6775:0.1653	.	1682;1682	A7J992;Q8WWQ0	.;PHIP_HUMAN	M	1682	ENSP00000275034:I1682M	.	I	-	3	3	PHIP	79707549	1.000000	0.71417	1.000000	0.80357	0.837000	0.47467	2.499000	0.45372	1.492000	0.48499	0.650000	0.86243	ATC		PASS	0.363	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041297.2			23	134	23	134	---	---	---	---
UBE3D	90025	broad.mit.edu	37	6	83732255	83732255	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:83732255C>T	ENST00000369747.3	-	7	885	c.763G>A	c.(763-765)Gcc>Acc	p.A255T		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	255	Interaction with UBE2C.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)	p.A255T(1)									AGACACTGGGCGATCACGCTC	0.373																																						uc003pjp.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(763-765)GCC>ACC		ubiquitin-conjugating enzyme E2C binding							65.0	63.0	64.0					6																	83732255		2203	4300	6503	SO:0001583	missense	90025					cytoplasm	ligase activity	g.chr6:83732255C>T	AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.763G>A	6.37:g.83732255C>T	ENSP00000358762:p.Ala255Thr					UBE2CBP_uc011dyx.1_RNA|UBE2CBP_uc003pjq.2_Missense_Mutation_p.A45T	p.A255T	NM_198920	NP_944602	Q7Z6J8	UB2CB_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.0944)	7	871	-		all_cancers(76;0.000374)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0548)	255			Interaction with UBE2C.		B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	ENST00000369747.3	37	c.763G>A	CCDS34491.1	.	.	.	.	.	.	.	.	.	.	C	7.382	0.628902	0.14257	.	.	ENSG00000118420	ENST00000369747	T	0.32988	1.43	5.72	3.94	0.45596	.	0.151747	0.64402	N	0.000017	T	0.13329	0.0323	L	0.57536	1.79	0.80722	D	1	B;B	0.31859	0.067;0.343	B;B	0.26517	0.059;0.07	T	0.03364	-1.1044	10	0.21014	T	0.42	-20.0945	13.078	0.59097	0.0:0.8579:0.0:0.1421	.	234;255	C9JRS1;Q7Z6J8	.;UB2CB_HUMAN	T	255	ENSP00000358762:A255T	ENSP00000358762:A255T	A	-	1	0	UBE2CBP	83788974	0.928000	0.31464	0.289000	0.24876	0.164000	0.22412	1.768000	0.38511	0.365000	0.24400	-1.119000	0.02030	GCC		PASS	0.373	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041347.7	NM_198920		6	31	6	31	---	---	---	---
REV3L	5980	broad.mit.edu	37	6	111634624	111634624	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:111634624C>T	ENST00000358835.3	-	29	8989	c.8535G>A	c.(8533-8535)caG>caA	p.Q2845Q	REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000435970.1_Silent_p.Q2767Q|REV3L_ENST00000368802.3_Silent_p.Q2845Q|REV3L_ENST00000368805.1_Silent_p.Q2845Q|RP5-1112D6.8_ENST00000607434.1_RNA			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2845					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.Q2767Q(1)|p.Q2845Q(1)		NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTGGGTCCTTCTGATCCAGTG	0.358								DNA polymerases (catalytic subunits)																														uc003puy.3																			2	Substitution - coding silent(2)		lung(2)	large_intestine(2)|ovary(2)|skin(2)	6						c.(8533-8535)CAG>CAA	DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage	DNA polymerase zeta							115.0	111.0	112.0					6																	111634624		2203	4300	6503	SO:0001819	synonymous_variant	5980				DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding	g.chr6:111634624C>T	AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8535G>A	6.37:g.111634624C>T						REV3L_uc003pux.3_Silent_p.Q2767Q|REV3L_uc003puz.3_Silent_p.Q2767Q|REV3L_uc003pva.1_RNA	p.Q2845Q	NM_002912	NP_002903	O60673	DPOLZ_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)	28	8858	-		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)	2845					O43214|Q5TC33	Silent	SNP	ENST00000358835.3	37	c.8535G>A	CCDS5091.2																																																																																				PASS	0.358	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043695.1	NM_002912		18	53	18	53	---	---	---	---
LAMA4	3910	broad.mit.edu	37	6	112452258	112452259	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:112452258_112452259CC>AA	ENST00000230538.7	-	29	4276_4277	c.3879_3880GG>TT	c.(3877-3882)atGGat>atTTat	p.1293_1294MD>IY	LAMA4_ENST00000424408.2_Missense_Mutation_p.1286_1287MD>IY|LAMA4_ENST00000522006.1_Missense_Mutation_p.1286_1287MD>IY|LAMA4_ENST00000389463.4_Missense_Mutation_p.1286_1287MD>IY	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1293	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.M1286I(3)|p.D1287Y(1)|p.M1286_D1287>IY(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCCTTTACATCCATGATGACAG	0.455																																						uc003pvu.2																			5	Substitution - Missense(4)|Complex - compound substitution(1)	|p.M1286I(1)	lung(4)|breast(1)	ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1)	9						c.(3880-3882)GAT>TAT|c.(3877-3879)ATG>ATT		laminin, alpha 4 isoform 1 precursor																																				SO:0001583	missense	3910				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding	g.chr6:112452258C>A|g.chr6:112452259C>A		CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3879_3880delinsAA	6.37:g.112452258_112452259delinsAA	ENSP00000230538:p.M1293_D1294delinsIY					LAMA4_uc003pvv.2_Missense_Mutation_p.D1287Y|LAMA4_uc003pvt.2_Missense_Mutation_p.D1287Y|LAMA4_uc003pvv.2_Missense_Mutation_p.M1286I|LAMA4_uc003pvt.2_Missense_Mutation_p.M1286I	p.D1294Y|p.M1293I	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)	29	4189|4188	-		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)	1294|1293			Laminin G-like 3.		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	ENST00000230538.7	37	c.3880G>T|c.3879G>T	CCDS43491.1																																																																																				PASS	0.455	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206		30	62|63	30	62	---	---	---	---
PKIB	5570	broad.mit.edu	37	6	123046281	123046281	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:123046281G>C	ENST00000368448.1	+	6	805	c.178G>C	c.(178-180)Gag>Cag	p.E60Q	PKIB_ENST00000354275.2_Missense_Mutation_p.E60Q|PKIB_ENST00000392491.2_Missense_Mutation_p.E60Q|PKIB_ENST00000258014.3_Missense_Mutation_p.E67Q|PKIB_ENST00000368446.1_Missense_Mutation_p.E69Q|PKIB_ENST00000392490.1_Missense_Mutation_p.E60Q|PKIB_ENST00000368452.2_Missense_Mutation_p.E60Q			Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	60							cAMP-dependent protein kinase inhibitor activity (GO:0004862)	p.E60Q(1)		large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		AGATGCAAAAGAGAAAGATGA	0.299																																						uc003pyz.2																			1	Substitution - Missense(1)		lung(1)		0						c.(178-180)GAG>CAG		cAMP-dependent protein kinase inhibitor beta							73.0	68.0	70.0					6																	123046281		2202	4299	6501	SO:0001583	missense	5570						cAMP-dependent protein kinase inhibitor activity	g.chr6:123046281G>C		CCDS5126.1, CCDS59033.1	6q21-q22.1	2008-05-27			ENSG00000135549	ENSG00000135549			9018	protein-coding gene	gene with protein product		606914		PRKACN2		10880337	Standard	NM_181795		Approved		uc003pzc.4	Q9C010	OTTHUMG00000015488	ENST00000368448.1:c.178G>C	6.37:g.123046281G>C	ENSP00000357433:p.Glu60Gln					PKIB_uc003pza.2_Missense_Mutation_p.E60Q|PKIB_uc003pzb.2_Missense_Mutation_p.E60Q|PKIB_uc003pzc.2_Missense_Mutation_p.E67Q|PKIB_uc011ebq.1_Missense_Mutation_p.E60Q	p.E60Q	NM_181794	NP_861459	Q9C010	IPKB_HUMAN		GBM - Glioblastoma multiforme(226;0.164)	7	639	+			60					B2RCK2|Q567T9|Q5T0Z7	Missense_Mutation	SNP	ENST00000368448.1	37	c.178G>C	CCDS5126.1	.	.	.	.	.	.	.	.	.	.	G	4.425	0.078698	0.08533	.	.	ENSG00000135549	ENST00000392491;ENST00000368452;ENST00000368448;ENST00000392490;ENST00000258014;ENST00000354275;ENST00000368446	.	.	.	5.25	-2.34	0.06704	.	1.065220	0.07295	N	0.873040	T	0.07818	0.0196	.	.	.	0.09310	N	1	B;B	0.10296	0.003;0.001	B;B	0.10450	0.005;0.002	T	0.33803	-0.9854	8	0.20046	T	0.44	-0.3888	5.7219	0.17992	0.3264:0.4165:0.2571:0.0	.	67;60	Q5T0Z7;Q9C010	.;IPKB_HUMAN	Q	60;60;60;60;67;60;69	.	ENSP00000258014:E67Q	E	+	1	0	PKIB	123087980	0.012000	0.17670	0.097000	0.21041	0.347000	0.29111	-0.129000	0.10515	-0.359000	0.08150	-0.290000	0.09829	GAG		PASS	0.299	PKIB-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042035.1			9	31	9	31	---	---	---	---
TMEM200A	114801	broad.mit.edu	37	6	130762297	130762297	+	Missense_Mutation	SNP	C	C	A	rs201003025		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:130762297C>A	ENST00000296978.3	+	3	1601	c.730C>A	c.(730-732)Ccc>Acc	p.P244T	TMEM200A_ENST00000545622.1_Missense_Mutation_p.P244T|TMEM200A_ENST00000392429.1_Missense_Mutation_p.P244T	NM_001258276.1|NM_001258277.1|NM_001258278.1	NP_001245205.1|NP_001245206.1|NP_001245207.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	244						integral component of membrane (GO:0016021)		p.P244S(2)|p.P244T(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GCATCTTATGCCCCCTTTGCT	0.483																																						uc003qca.2																			4	Substitution - Missense(4)		lung(4)	ovary(1)	1						c.(730-732)CCC>ACC		transmembrane protein 200A							73.0	70.0	71.0					6																	130762297		2203	4299	6502	SO:0001583	missense	114801					integral to membrane		g.chr6:130762297C>A	AB067500	CCDS5140.1	6q23.1	2009-09-04	2007-12-18	2007-12-18	ENSG00000164484	ENSG00000164484			21075	protein-coding gene	gene with protein product			"""KIAA1913"""	KIAA1913		15722956	Standard	NM_001258276		Approved	TTMC	uc010kfh.4	Q86VY9	OTTHUMG00000015557	ENST00000296978.3:c.730C>A	6.37:g.130762297C>A	ENSP00000296978:p.Pro244Thr					TMEM200A_uc010kfh.2_Missense_Mutation_p.P244T|TMEM200A_uc010kfi.2_Missense_Mutation_p.P244T|TMEM200A_uc003qcb.2_Missense_Mutation_p.P244T	p.P244T	NM_052913	NP_443145	Q86VY9	T200A_HUMAN		GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)	3	1601	+			244			Cytoplasmic (Potential).		Q96PX5	Missense_Mutation	SNP	ENST00000296978.3	37	c.730C>A	CCDS5140.1	.	.	.	.	.	.	.	.	.	.	C	17.92	3.506710	0.64410	.	.	ENSG00000164484	ENST00000296978;ENST00000545622;ENST00000392429	.	.	.	5.93	5.93	0.95920	.	0.108415	0.64402	D	0.000004	T	0.69043	0.3067	L	0.59436	1.845	0.80722	D	1	D	0.63880	0.993	P	0.56343	0.796	T	0.70417	-0.4877	9	0.72032	D	0.01	-11.1798	20.3368	0.98748	0.0:1.0:0.0:0.0	.	244	Q86VY9	T200A_HUMAN	T	244	.	ENSP00000296978:P244T	P	+	1	0	TMEM200A	130803990	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.095000	0.50235	2.805000	0.96524	0.655000	0.94253	CCC		PASS	0.483	TMEM200A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042201.1	NM_052913		32	55	32	55	---	---	---	---
PLEKHG1	57480	broad.mit.edu	37	6	151121854	151121854	+	Splice_Site	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:151121854G>A	ENST00000358517.2	+	6	840		c.e6-1		PLEKHG1_ENST00000367328.1_Splice_Site			Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1								Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		TCTTCCTGCAGGTCCGTGGCT	0.433																																						uc003qny.1																			1	Unknown(1)		lung(1)	ovary(2)	2						c.e7-1		pleckstrin homology domain containing, family G							98.0	95.0	96.0					6																	151121854		2203	4300	6503	SO:0001630	splice_region_variant	57480				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr6:151121854G>A	AB033035	CCDS34552.1	6q25.1	2013-01-11			ENSG00000120278	ENSG00000120278		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20884	protein-coding gene	gene with protein product						10574462	Standard	XM_005267064		Approved	KIAA1209, ARHGEF41	uc003qny.1	Q9ULL1	OTTHUMG00000015824	ENST00000358517.2:c.630-1G>A	6.37:g.151121854G>A						PLEKHG1_uc011eel.1_Splice_Site_p.R250_splice|PLEKHG1_uc011eem.1_Splice_Site_p.R269_splice|PLEKHG1_uc003qnz.2_Splice_Site_p.R210_splice	p.R210_splice	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)	7	942	+								Q5T1F2	Splice_Site	SNP	ENST00000358517.2	37	c.630_splice	CCDS34552.1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.596864	0.46318	.	.	ENSG00000120278	ENST00000367328;ENST00000535018;ENST00000358517	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHG1	151163547	1.000000	0.71417	0.990000	0.47175	0.117000	0.20001	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	.		PASS	0.433	PLEKHG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042691.1		Intron	22	63	22	63	---	---	---	---
MTRF1L	54516	broad.mit.edu	37	6	153311084	153311084	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:153311084C>T	ENST00000367233.5	-	7	1088	c.1089G>A	c.(1087-1089)ttG>ttA	p.L363L	MTRF1L_ENST00000464135.1_5'UTR|RP1-101K10.6_ENST00000442269.1_RNA|MTRF1L_ENST00000367230.1_3'UTR|MTRF1L_ENST00000367231.5_3'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like	363						mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)	p.L363L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		CGTATTCCTTCAATGACTGTA	0.333																																						uc003qpi.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1087-1089)TTG>TTA		mitochondrial translational release factor							86.0	89.0	88.0					6																	153311084		2203	4300	6503	SO:0001819	synonymous_variant	54516					mitochondrion	translation release factor activity, codon specific	g.chr6:153311084C>T	BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.1089G>A	6.37:g.153311084C>T						MTRF1L_uc003qpl.3_3'UTR|MTRF1L_uc011efa.1_Silent_p.L327L|MTRF1L_uc003qpj.3_Silent_p.L221L|MTRF1L_uc003qpk.3_3'UTR	p.L363L	NM_019041	NP_061914	Q9UGC7	RF1ML_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)	7	1194	-		Ovarian(120;0.125)	363					B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	Silent	SNP	ENST00000367233.5	37	c.1089G>A	CCDS5243.1																																																																																				PASS	0.333	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042764.1	NM_019041		33	133	33	133	---	---	---	---
MAS1	4142	broad.mit.edu	37	6	160328255	160328255	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:160328255G>T	ENST00000252660.4	+	1	282	c.268G>T	c.(268-270)Gac>Tac	p.D90Y		NM_002377.2	NP_002368.1	P04201	MAS_HUMAN	MAS1 proto-oncogene, G protein-coupled receptor	90					activation of NF-kappaB-inducing kinase activity (GO:0007250)|anatomical structure morphogenesis (GO:0009653)|cell proliferation (GO:0008283)|cellular response to peptide hormone stimulus (GO:0071375)|G-protein coupled receptor signaling pathway (GO:0007186)|hippocampus development (GO:0021766)|male gonad development (GO:0008584)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of inositol phosphate biosynthetic process (GO:0060732)|protein kinase C signaling (GO:0070528)|regulation of inflammatory response (GO:0050727)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin receptor activity (GO:0001595)|angiotensin type II receptor activity (GO:0004945)|G-protein coupled receptor activity (GO:0004930)|peptide binding (GO:0042277)|peptide hormone binding (GO:0017046)	p.D90Y(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)		CTTGTCTATCGACTATGCTTT	0.433																																						uc003qsz.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(268-270)GAC>TAC		MAS1 oncogene							249.0	238.0	242.0					6																	160328255		2203	4300	6503	SO:0001583	missense	4142				anatomical structure morphogenesis|cell proliferation|protein kinase C signaling cascade	integral to plasma membrane	angiotensin type II receptor activity	g.chr6:160328255G>T	M13150	CCDS5272.1	6q24-q27	2014-06-26	2014-06-26		ENSG00000130368	ENSG00000130368		"""GPCR / Class A : Orphans"""	6899	protein-coding gene	gene with protein product		165180	"""MAS1 oncogene"""				Standard	NM_002377		Approved		uc003qsz.3	P04201	OTTHUMG00000015944	ENST00000252660.4:c.268G>T	6.37:g.160328255G>T	ENSP00000252660:p.Asp90Tyr						p.D90Y	NM_002377	NP_002368	P04201	MAS_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.44e-18)|BRCA - Breast invasive adenocarcinoma(81;5.6e-06)	1	282	+		Breast(66;0.000776)|Ovarian(120;0.0303)	90			Extracellular (Potential).		E1P5B3|Q2TBC9|Q6FG47	Missense_Mutation	SNP	ENST00000252660.4	37	c.268G>T	CCDS5272.1	.	.	.	.	.	.	.	.	.	.	G	13.24	2.177243	0.38413	.	.	ENSG00000130368	ENST00000252660	T	0.09538	2.97	5.68	5.68	0.88126	GPCR, rhodopsin-like superfamily (1);	0.209202	0.32935	N	0.005477	T	0.10165	0.0249	N	0.11927	0.2	0.42091	D	0.991294	D	0.71674	0.998	P	0.62560	0.904	T	0.37731	-0.9693	10	0.38643	T	0.18	.	18.8348	0.92157	0.0:0.0:1.0:0.0	.	90	P04201	MAS_HUMAN	Y	90	ENSP00000252660:D90Y	ENSP00000252660:D90Y	D	+	1	0	MAS1	160248245	0.994000	0.37717	0.988000	0.46212	0.173000	0.22820	2.304000	0.43655	2.697000	0.92050	0.650000	0.86243	GAC		PASS	0.433	MAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042930.2	NM_002377		44	159	44	159	---	---	---	---
QKI	9444	broad.mit.edu	37	6	163899889	163899889	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:163899889C>T	ENST00000361752.3	+	3	914	c.363C>T	c.(361-363)atC>atT	p.I121I	QKI_ENST00000392127.2_Silent_p.I121I|QKI_ENST00000361195.2_Silent_p.I121I|QKI_ENST00000453779.2_Silent_p.I121I|QKI_ENST00000424802.3_Silent_p.I121I|QKI_ENST00000275262.7_Silent_p.I121I	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	121	KH.				long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.I121I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GATGTAAAATCATGGTCCGAG	0.363																																						uc003qui.2																			2	Substitution - coding silent(2)		lung(2)	large_intestine(1)|ovary(1)	2						c.(361-363)ATC>ATT		quaking homolog, KH domain RNA binding isoform							90.0	91.0	91.0					6																	163899889		2203	4300	6503	SO:0001819	synonymous_variant	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163899889C>T	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.363C>T	6.37:g.163899889C>T						QKI_uc003que.2_Silent_p.I121I|QKI_uc003quf.2_Silent_p.I121I|QKI_uc003qug.2_Silent_p.I121I|QKI_uc003quh.2_Silent_p.I121I|QKI_uc003quj.2_Silent_p.I121I	p.I121I	NM_006775	NP_006766	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	3	914	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	121			KH.		Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Silent	SNP	ENST00000361752.3	37	c.363C>T	CCDS5285.1																																																																																				PASS	0.363	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		24	92	24	92	---	---	---	---
C6orf118	168090	broad.mit.edu	37	6	165715275	165715275	+	Missense_Mutation	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:165715275A>T	ENST00000230301.8	-	2	556	c.536T>A	c.(535-537)cTg>cAg	p.L179Q	C6orf118_ENST00000543069.1_Missense_Mutation_p.L75Q	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	179								p.L179Q(1)		breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CAAGTCGGGCAGCCGGAGTTC	0.642																																						uc003qum.3																			1	Substitution - Missense(1)		lung(1)		0						c.(535-537)CTG>CAG		hypothetical protein LOC168090							37.0	41.0	40.0					6																	165715275		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715275A>T		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.536T>A	6.37:g.165715275A>T	ENSP00000230301:p.Leu179Gln					C6orf118_uc011egi.1_RNA	p.L179Q	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	572	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	179					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.536T>A	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	A	15.19	2.759982	0.49468	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.13196	2.61;2.61	4.9	1.1	0.20463	.	0.707747	0.12684	N	0.447708	T	0.15609	0.0376	M	0.62723	1.935	0.09310	N	1	D	0.89917	1.0	D	0.78314	0.991	T	0.04900	-1.0919	10	0.72032	D	0.01	-1.8708	6.1555	0.20335	0.5641:0.3494:0.0865:0.0	.	179	Q5T5N4	CF118_HUMAN	Q	179;75	ENSP00000230301:L179Q;ENSP00000439288:L75Q	ENSP00000230301:L179Q	L	-	2	0	C6orf118	165635265	0.194000	0.23325	0.000000	0.03702	0.002000	0.02628	1.426000	0.34870	0.276000	0.22118	0.533000	0.62120	CTG		PASS	0.642	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		6	41	6	41	---	---	---	---
TTLL2	83887	broad.mit.edu	37	6	167753644	167753644	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:167753644C>A	ENST00000239587.5	+	3	344	c.256C>A	c.(256-258)Ccg>Acg	p.P86T		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	86	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)		ligase activity (GO:0016874)	p.P86T(1)		central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CCTCTTGAAGCCGCTGGTTTT	0.507																																						uc003qvs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(256-258)CCG>ACG		tubulin tyrosine ligase-like family, member 2							49.0	52.0	51.0					6																	167753644		2203	4300	6503	SO:0001583	missense	83887				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr6:167753644C>A	AK093039	CCDS5301.1	6q27	2013-02-14		2004-01-14	ENSG00000120440	ENSG00000120440		"""Tubulin tyrosine ligase-like family"""	21211	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 104"""	C6orf104		11054573	Standard	XM_006715572		Approved	NYD-TSPG, dJ366N23.3	uc003qvs.1	Q9BWV7	OTTHUMG00000016023	ENST00000239587.5:c.256C>A	6.37:g.167753644C>A	ENSP00000239587:p.Pro86Thr					TTLL2_uc011egr.1_RNA	p.P86T	NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)	3	344	+		Breast(66;7.8e-06)|Ovarian(120;0.024)	86			TTL.		B2RB11|B3KS77|Q7Z6R8|Q86X22	Missense_Mutation	SNP	ENST00000239587.5	37	c.256C>A	CCDS5301.1	.	.	.	.	.	.	.	.	.	.	C	15.34	2.803418	0.50315	.	.	ENSG00000120440	ENST00000239587;ENST00000540954	T	0.02656	4.21	3.13	3.13	0.36017	.	0.000000	0.64402	D	0.000004	T	0.03390	0.0098	M	0.69823	2.125	0.35602	D	0.807927	D	0.53312	0.959	P	0.50109	0.631	T	0.47548	-0.9109	10	0.38643	T	0.18	.	11.4019	0.49875	0.0:1.0:0.0:0.0	.	86	Q9BWV7	TTLL2_HUMAN	T	86;13	ENSP00000239587:P86T	ENSP00000239587:P86T	P	+	1	0	TTLL2	167673634	0.969000	0.33509	0.032000	0.17829	0.026000	0.11368	4.183000	0.58317	1.760000	0.52011	0.484000	0.47621	CCG		PASS	0.507	TTLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043127.3	NM_031949		17	53	17	53	---	---	---	---
DLL1	28514	broad.mit.edu	37	6	170594017	170594017	+	Silent	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr6:170594017G>T	ENST00000366756.3	-	8	1572	c.1239C>A	c.(1237-1239)ccC>ccA	p.P413P		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	413	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|cell-cell signaling (GO:0007267)|compartment pattern specification (GO:0007386)|determination of left/right symmetry (GO:0007368)|heart looping (GO:0001947)|hemopoiesis (GO:0030097)|inner ear development (GO:0048839)|left/right axis specification (GO:0070986)|loop of Henle development (GO:0072070)|negative regulation of auditory receptor cell differentiation (GO:0045608)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of myeloid cell differentiation (GO:0045638)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal tubule development (GO:0072014)|regulation of cell adhesion (GO:0030155)|somite specification (GO:0001757)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|Notch binding (GO:0005112)	p.P413P(1)		NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CATTAGAACAGGGTGAAGAGC	0.547																																						uc003qxm.2																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(1)	5						c.(1237-1239)CCC>CCA		delta-like 1 precursor							60.0	66.0	64.0					6																	170594017		2203	4300	6503	SO:0001819	synonymous_variant	28514				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding	g.chr6:170594017G>T	AF003522	CCDS5313.1	6q13-q22.33	2008-07-28	2001-12-03		ENSG00000198719	ENSG00000198719			2908	protein-coding gene	gene with protein product		606582	"""delta (Drosophila)-like 1"""				Standard	NM_005618		Approved		uc003qxm.3	O00548	OTTHUMG00000016078	ENST00000366756.3:c.1239C>A	6.37:g.170594017G>T							p.P413P	NM_005618	NP_005609	O00548	DLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)	8	1709	-		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	413			Extracellular (Potential).|EGF-like 6.		B2RAK7|B5M0B3|Q9NU41|Q9UJV2	Silent	SNP	ENST00000366756.3	37	c.1239C>A	CCDS5313.1																																																																																				PASS	0.547	DLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043254.1			13	47	13	47	---	---	---	---
CARD11	84433	broad.mit.edu	37	7	2946460	2946460	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:2946460G>T	ENST00000396946.4	-	25	3680	c.3277C>A	c.(3277-3279)Cct>Act	p.P1093T		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	1093	Guanylate kinase-like.				Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.P1086T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCGTCTCAGGTCGGGGCAGC	0.682			Mis		DLBCL																																	uc003smv.2				Dom	yes		7	7p22	84433	Mis	"""caspase recruitment domain family, member 11"""			L			DLBCL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(43)|ovary(2)|kidney(2)|skin(2)|central_nervous_system(1)	50						c.(3277-3279)CCT>ACT		caspase recruitment domain family, member 11							35.0	30.0	31.0					7																	2946460		2203	4300	6503	SO:0001583	missense	84433				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	g.chr7:2946460G>T	AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.3277C>A	7.37:g.2946460G>T	ENSP00000380150:p.Pro1093Thr						p.P1093T	NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)	25	3681	-		Ovarian(82;0.0115)	1093			Guanylate kinase-like.		A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	c.3277C>A	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	G	5.406	0.260038	0.10239	.	.	ENSG00000198286	ENST00000396946	T	0.16324	2.35	3.86	3.86	0.44501	.	0.190900	0.36444	N	0.002597	T	0.14830	0.0358	L	0.43152	1.355	0.41089	D	0.985583	P	0.34864	0.473	B	0.32762	0.152	T	0.07558	-1.0766	10	0.14656	T	0.56	-22.797	15.7975	0.78423	0.0:0.0:1.0:0.0	.	1093	Q9BXL7	CAR11_HUMAN	T	1093	ENSP00000380150:P1093T	ENSP00000380150:P1093T	P	-	1	0	CARD11	2912986	1.000000	0.71417	0.142000	0.22268	0.039000	0.13416	3.189000	0.50965	1.704000	0.51252	0.511000	0.50034	CCT		PASS	0.682	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415		7	18	7	18	---	---	---	---
HDAC9	9734	broad.mit.edu	37	7	18869172	18869172	+	Splice_Site	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:18869172G>T	ENST00000432645.2	+	18	2457		c.e18+1		HDAC9_ENST00000441542.2_Splice_Site|HDAC9_ENST00000401921.1_Splice_Site|HDAC9_ENST00000406451.4_Splice_Site	NM_058176.2	NP_478056.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cellular response to insulin stimulus (GO:0032869)|heart development (GO:0007507)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell migration involved in sprouting angiogenesis (GO:0090050)|regulation of skeletal muscle fiber development (GO:0048742)|regulation of striated muscle cell differentiation (GO:0051153)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|histone methyltransferase complex (GO:0035097)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|protein deacetylase activity (GO:0033558)|protein kinase C binding (GO:0005080)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)	p.?(2)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	TGTAGATCTGGTATGTATTCC	0.388																																						uc003suh.2																			2	Unknown(2)		lung(2)	lung(2)|central_nervous_system(2)|kidney(1)	5						c.e18+1		histone deacetylase 9 isoform 1	Valproic Acid(DB00313)						76.0	74.0	74.0					7																	18869172		1848	4092	5940	SO:0001630	splice_region_variant	9734				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	g.chr7:18869172G>T	AF124924	CCDS47553.1, CCDS47554.1, CCDS47555.1, CCDS47557.1, CCDS56465.1, CCDS56466.1, CCDS56467.1, CCDS56468.1, CCDS75565.1	7p21.1	2008-05-15			ENSG00000048052	ENSG00000048052			14065	protein-coding gene	gene with protein product		606543				10523670, 10487760	Standard	NM_178425		Approved	KIAA0744, HDAC, MITR, HD7, HDAC7B	uc003sui.3	Q9UKV0	OTTHUMG00000152487	ENST00000432645.2:c.2457+1G>T	7.37:g.18869172G>T						HDAC9_uc003sue.2_Splice_Site_p.L819_splice|HDAC9_uc011jyd.1_Splice_Site_p.L819_splice|HDAC9_uc003sui.2_Splice_Site_p.L822_splice|HDAC9_uc003suj.2_Splice_Site_p.L778_splice|HDAC9_uc003suk.2_Splice_Site_p.L67_splice	p.L819_splice	NM_058176	NP_478056	Q9UKV0	HDAC9_HUMAN			18	2498	+	all_lung(11;0.187)							A7E2F3|B7Z4I4|B7Z917|B7Z928|B7Z940|C9JS87|E7EX34|F8W9E0|O94845|O95028|Q2M2R6|Q86SL1|Q86US3	Splice_Site	SNP	ENST00000432645.2	37	c.2457_splice	CCDS47555.1	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501709	0.44455	.	.	ENSG00000048052	ENST00000406451;ENST00000401921;ENST00000432645;ENST00000441542;ENST00000341009	.	.	.	5.31	4.36	0.52297	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3011	0.37847	0.0762:0.1463:0.7775:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HDAC9	18835697	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.697000	0.74603	2.634000	0.89283	0.650000	0.86243	.		PASS	0.388	HDAC9-023	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376176.1		Intron	22	48	22	48	---	---	---	---
ITGB8	3696	broad.mit.edu	37	7	20441706	20441707	+	Missense_Mutation	DNP	GG	GG	TT			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:20441706_20441707GG>TT	ENST00000222573.4	+	10	2328_2329	c.1644_1645GG>TT	c.(1642-1647)aaGGat>aaTTat	p.548_549KD>NY	ITGB8_ENST00000537992.1_Missense_Mutation_p.413_414KD>NY	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8	548	Cysteine-rich tandem repeats.				cartilage development (GO:0051216)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|ganglioside metabolic process (GO:0001573)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of gene expression (GO:0010629)|placenta blood vessel development (GO:0060674)|positive regulation of gene expression (GO:0010628)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	extracellular matrix protein binding (GO:1990430)|receptor activity (GO:0004872)	p.K548_D549>NY(2)|p.D549Y(2)|p.K548N(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						ACTGTGAAAAGGATGACTTTTC	0.386																																						uc003suu.2																			6	Substitution - Missense(4)|Complex - compound substitution(2)		lung(6)	skin(3)	3						c.(1642-1644)AAG>AAT|c.(1645-1647)GAT>TAT		integrin, beta 8 precursor																																				SO:0001583	missense	3696				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity	g.chr7:20441706G>T|g.chr7:20441707G>T		CCDS5370.1	7p15.3	2010-03-23			ENSG00000105855	ENSG00000105855		"""Integrins"""	6163	protein-coding gene	gene with protein product		604160					Standard	XM_005249751		Approved		uc003suu.3	P26012	OTTHUMG00000023594	Exception_encountered	7.37:g.20441706_20441707delinsTT	ENSP00000222573:p.K548_D549delinsNY					ITGB8_uc011jyh.1_Missense_Mutation_p.K413N|ITGB8_uc011jyh.1_Missense_Mutation_p.D414Y	p.K548N|p.D549Y	NM_002214	NP_002205	P26012	ITB8_HUMAN			10	2349|2350	+			548|549			Cysteine-rich tandem repeats.|II.|Extracellular (Potential).		A4D133|B4DHD4	Missense_Mutation	SNP	ENST00000222573.4	37	c.1644G>T|c.1645G>T	CCDS5370.1																																																																																				PASS	0.386	ITGB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059915.3	NM_002214		33|34	70	33	70	---	---	---	---
DNAH11	8701	broad.mit.edu	37	7	21765525	21765525	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:21765525G>A	ENST00000409508.3	+	45	7394	c.7363G>A	c.(7363-7365)Gac>Aac	p.D2455N	DNAH11_ENST00000328843.6_Missense_Mutation_p.D2462N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2462					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.D2462N(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTATTATGTGGACCACAAAAC	0.423									Kartagener syndrome																													uc003svc.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1)	15						c.(7384-7386)GAC>AAC		dynein, axonemal, heavy chain 11							82.0	85.0	84.0					7																	21765525		1836	4086	5922	SO:0001583	missense	8701	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21765525G>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.7363G>A	7.37:g.21765525G>A	ENSP00000475939:p.Asp2455Asn						p.D2462N	NM_003777	NP_003768	Q96DT5	DYH11_HUMAN			46	7415	+			2462					Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.7384G>A		.	.	.	.	.	.	.	.	.	.	G	25.5	4.643347	0.87859	.	.	ENSG00000105877	ENST00000328843	T	0.26810	1.71	5.55	5.55	0.83447	.	0.000000	0.27912	U	0.017351	T	0.50274	0.1606	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.31251	-0.9950	9	0.30078	T	0.28	.	18.2659	0.90052	0.0:0.0:1.0:0.0	.	2462	Q96DT5	DYH11_HUMAN	N	2462	ENSP00000330671:D2462N	ENSP00000330671:D2462N	D	+	1	0	DNAH11	21732050	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.426000	0.80270	2.597000	0.87782	0.655000	0.94253	GAC		PASS	0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		4	14	4	14	---	---	---	---
HOXA2	3199	broad.mit.edu	37	7	27142065	27142065	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:27142065C>A	ENST00000222718.5	-	1	365	c.55G>T	c.(55-57)Gct>Tct	p.A19S	HOTAIRM1_ENST00000593300.1_RNA|HOTAIRM1_ENST00000434063.3_RNA|HOTAIRM1_ENST00000425358.2_RNA|HOTAIRM1_ENST00000428939.3_RNA|HOTAIRM1_ENST00000429611.3_RNA	NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	19					anterior/posterior pattern specification (GO:0009952)|brain segmentation (GO:0035284)|cell fate determination (GO:0001709)|dorsal/ventral pattern formation (GO:0009953)|embryonic viscerocranium morphogenesis (GO:0048703)|middle ear morphogenesis (GO:0042474)|motor neuron axon guidance (GO:0008045)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|osteoblast development (GO:0002076)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|rhombomere 2 development (GO:0021568)|rhombomere 3 morphogenesis (GO:0021658)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A19S(1)		breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						AGGCACTCAGCGAGCGACGGC	0.478																																						uc003syh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(55-57)GCT>TCT		homeobox A2							110.0	116.0	114.0					7																	27142065		2203	4300	6503	SO:0001583	missense	3199					nucleus	sequence-specific DNA binding transcription factor activity	g.chr7:27142065C>A		CCDS5403.1	7p15.2	2011-06-20	2005-12-22		ENSG00000105996	ENSG00000105996		"""Homeoboxes / ANTP class : HOXL subclass"""	5103	protein-coding gene	gene with protein product		604685	"""homeo box A2"""	HOX1K		1358459	Standard	NM_006735		Approved		uc003syh.3	O43364	OTTHUMG00000023208	ENST00000222718.5:c.55G>T	7.37:g.27142065C>A	ENSP00000222718:p.Ala19Ser						p.A19S	NM_006735	NP_006726	O43364	HXA2_HUMAN			1	330	-			19					A1L4K3|B2RMW3	Missense_Mutation	SNP	ENST00000222718.5	37	c.55G>T	CCDS5403.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080418	0.76528	.	.	ENSG00000105996	ENST00000222718	T	0.09817	2.94	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.43765	0.1262	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.53173	-0.8476	10	0.87932	D	0	.	19.2869	0.94082	0.0:1.0:0.0:0.0	.	19	O43364	HXA2_HUMAN	S	19	ENSP00000222718:A19S	ENSP00000222718:A19S	A	-	1	0	HOXA2	27108590	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.415000	0.80131	2.555000	0.86185	0.591000	0.81541	GCT		PASS	0.478	HOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358508.2			17	152	17	152	---	---	---	---
AVL9	23080	broad.mit.edu	37	7	32598723	32598723	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:32598723G>C	ENST00000318709.4	+	10	1083	c.862G>C	c.(862-864)Gat>Cat	p.D288H	AVL9_ENST00000409301.1_Missense_Mutation_p.D288H|AVL9_ENST00000404479.1_Missense_Mutation_p.D288H	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	288					cell migration (GO:0016477)	integral component of membrane (GO:0016021)|recycling endosome (GO:0055037)		p.D288H(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CCATGGAGAAGATGCTGCCAT	0.453																																						uc003tcv.1																			2	Substitution - Missense(2)		lung(2)		0						c.(862-864)GAT>CAT		AVL9 homolog (S. cerevisiase)							76.0	69.0	72.0					7																	32598723		2203	4300	6503	SO:0001583	missense	23080					integral to membrane		g.chr7:32598723G>C	D87682	CCDS34613.1	7p14.3	2013-05-01	2008-10-03	2008-10-03	ENSG00000105778	ENSG00000105778			28994	protein-coding gene	gene with protein product		612927	"""KIAA0241"""	KIAA0241		17229886, 22595670	Standard	XM_005249668		Approved		uc003tcv.1	Q8NBF6	OTTHUMG00000152929	ENST00000318709.4:c.862G>C	7.37:g.32598723G>C	ENSP00000315568:p.Asp288His					AVL9_uc011kai.1_Missense_Mutation_p.D288H|AVL9_uc010kwj.1_Missense_Mutation_p.D129H	p.D288H	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN			10	1008	+			288					Q92573	Missense_Mutation	SNP	ENST00000318709.4	37	c.862G>C	CCDS34613.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254957	0.39896	.	.	ENSG00000105778	ENST00000318709;ENST00000409301;ENST00000329714;ENST00000404479;ENST00000446718	T;T;T;T	0.50277	0.83;0.83;0.76;0.75	5.31	4.41	0.53225	.	0.418594	0.25019	N	0.033763	T	0.37652	0.1011	N	0.22421	0.69	0.30006	N	0.815561	B;B;B	0.22003	0.063;0.051;0.028	B;B;B	0.25759	0.063;0.037;0.018	T	0.38394	-0.9663	10	0.48119	T	0.1	-12.5946	15.9827	0.80125	0.0:0.1348:0.8652:0.0	.	288;288;288	Q8N6Z3;Q8NBF6-2;Q8NBF6	.;.;AVL9_HUMAN	H	288;288;288;288;219	ENSP00000315568:D288H;ENSP00000387011:D288H;ENSP00000385242:D288H;ENSP00000395134:D219H	ENSP00000315568:D288H	D	+	1	0	AVL9	32565248	0.992000	0.36948	0.282000	0.24776	0.047000	0.14425	5.325000	0.65869	1.439000	0.47511	0.591000	0.81541	GAT		PASS	0.453	AVL9-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328643.1	NM_015060		15	22	15	22	---	---	---	---
KBTBD2	25948	broad.mit.edu	37	7	32909154	32909154	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:32909154C>G	ENST00000304056.4	-	4	2374	c.1675G>C	c.(1675-1677)Gac>Cac	p.D559H	KBTBD2_ENST00000485611.1_5'Flank|AVL9_ENST00000404479.1_Intron	NM_015483.2	NP_056298.2	Q8IY47	KBTB2_HUMAN	kelch repeat and BTB (POZ) domain containing 2	559								p.D559H(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GACCACCGGTCAAGTTCCAGG	0.463																																						uc003tdb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1675-1677)GAC>CAC		kelch repeat and BTB (POZ) domain containing 2							156.0	143.0	147.0					7																	32909154		2203	4300	6503	SO:0001583	missense	25948							g.chr7:32909154C>G	AB040922	CCDS34614.1	7p14.3	2013-01-08	2003-12-12	2003-12-12	ENSG00000170852	ENSG00000170852		"""BTB/POZ domain containing"""	21751	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 1"""	BKLHD1		10819331	Standard	NM_015483		Approved	DKFZP566C134	uc003tdb.2	Q8IY47	OTTHUMG00000152984	ENST00000304056.4:c.1675G>C	7.37:g.32909154C>G	ENSP00000302586:p.Asp559His					AVL9_uc011kai.1_Intron	p.D559H	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	GBM - Glioblastoma multiforme(11;0.0499)		4	2334	-			559			Kelch 5.		A8K9T7|Q86Y62|Q9P239|Q9UFM7|Q9Y382	Missense_Mutation	SNP	ENST00000304056.4	37	c.1675G>C	CCDS34614.1	.	.	.	.	.	.	.	.	.	.	C	15.75	2.926435	0.52759	.	.	ENSG00000170852	ENST00000304056	T	0.69306	-0.39	5.63	5.63	0.86233	Kelch-type beta propeller (1);	0.044852	0.85682	D	0.000000	T	0.59307	0.2184	L	0.32530	0.975	0.58432	D	0.999998	P	0.38195	0.622	B	0.40477	0.33	T	0.63514	-0.6620	10	0.66056	D	0.02	.	12.9538	0.58415	0.0:0.9263:0.0:0.0737	.	559	Q8IY47	KBTB2_HUMAN	H	559	ENSP00000302586:D559H	ENSP00000302586:D559H	D	-	1	0	KBTBD2	32875679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.091000	0.71406	2.669000	0.90835	0.591000	0.81541	GAC		PASS	0.463	KBTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328890.1	XM_291224		48	105	48	105	---	---	---	---
KIAA0895	23366	broad.mit.edu	37	7	36396527	36396527	+	Missense_Mutation	SNP	T	T	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:36396527T>A	ENST00000297063.6	-	3	901	c.851A>T	c.(850-852)gAc>gTc	p.D284V	KIAA0895_ENST00000436884.1_Missense_Mutation_p.D133V|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000338533.5_Missense_Mutation_p.D271V|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000415803.2_Missense_Mutation_p.D271V|KIAA0895_ENST00000440378.1_Missense_Mutation_p.D233V|KIAA0895_ENST00000317020.6_Missense_Mutation_p.D233V	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895	284								p.D284V(1)|p.D271V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGAAATCGGTCAGATGCGTG	0.358																																						uc003tfd.2																			2	Substitution - Missense(2)		lung(2)		0						c.(850-852)GAC>GTC		hypothetical protein LOC23366 isoform 1							76.0	67.0	70.0					7																	36396527		1868	4115	5983	SO:0001583	missense	23366							g.chr7:36396527T>A	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.851A>T	7.37:g.36396527T>A	ENSP00000297063:p.Asp284Val					KIAA0895_uc003tfc.2_Missense_Mutation_p.D271V|KIAA0895_uc011kaw.1_Missense_Mutation_p.D133V|KIAA0895_uc003tfb.2_Missense_Mutation_p.D233V|KIAA0895_uc011kax.1_Missense_Mutation_p.D233V|KIAA0895_uc003tfe.2_Missense_Mutation_p.D271V|KIAA0895_uc011kay.1_Missense_Mutation_p.D233V	p.D284V	NM_001100425	NP_001093895	Q8NCT3	K0895_HUMAN			3	902	-			284					B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Missense_Mutation	SNP	ENST00000297063.6	37	c.851A>T	CCDS43570.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.262677	0.80358	.	.	ENSG00000164542	ENST00000297063;ENST00000338533;ENST00000317020;ENST00000440378;ENST00000436884;ENST00000415803	.	.	.	5.74	5.74	0.90152	.	0.043197	0.85682	D	0.000000	T	0.75398	0.3844	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.997;0.999;1.0;0.999;0.999;0.996	D;D;D;D;D;D;D	0.76575	0.984;0.953;0.979;0.988;0.986;0.967;0.944	T	0.76280	-0.3017	9	0.52906	T	0.07	-16.6509	16.0469	0.80725	0.0:0.0:0.0:1.0	.	233;233;133;271;284;271;233	B4DGN6;B7ZLT4;B4DF35;Q8NCT3-4;Q8NCT3;Q8NCT3-2;Q8NCT3-3	.;.;.;.;K0895_HUMAN;.;.	V	284;271;233;233;133;271	.	ENSP00000297063:D284V	D	-	2	0	KIAA0895	36363052	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	7.421000	0.80204	2.194000	0.70268	0.460000	0.39030	GAC		PASS	0.358	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000337717.1	NM_015314		12	51	12	51	---	---	---	---
GLI3	2737	broad.mit.edu	37	7	42005006	42005006	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:42005006G>C	ENST00000395925.3	-	15	3749	c.3665C>G	c.(3664-3666)cCc>cGc	p.P1222R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1222					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P1222R(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GCCACCGTAGGGGTTGCTGTT	0.637									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																													uc011kbh.1																			1	Substitution - Missense(1)		lung(1)	lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1)	19						c.(3664-3666)CCC>CGC		GLI-Kruppel family member GLI3							58.0	66.0	63.0					7																	42005006		2203	4300	6503	SO:0001583	missense	2737	Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome	Familial Cancer Database	;	negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:42005006G>C		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3665C>G	7.37:g.42005006G>C	ENSP00000379258:p.Pro1222Arg					GLI3_uc011kbg.1_Missense_Mutation_p.P1163R	p.P1222R	NM_000168	NP_000159	P10071	GLI3_HUMAN			15	3756	-			1222					A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	c.3665C>G	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398931	0.42512	.	.	ENSG00000106571	ENST00000395925	T	0.12984	2.63	5.7	4.77	0.60923	.	1.637910	0.02382	N	0.078879	T	0.11024	0.0269	N	0.08118	0	0.80722	D	1	B	0.15930	0.015	B	0.15870	0.014	T	0.13764	-1.0497	10	0.17369	T	0.5	.	16.1695	0.81793	0.0:0.1332:0.8668:0.0	.	1222	P10071	GLI3_HUMAN	R	1222	ENSP00000379258:P1222R	ENSP00000379258:P1222R	P	-	2	0	GLI3	41971531	0.968000	0.33430	0.786000	0.31890	0.013000	0.08279	2.627000	0.46469	2.679000	0.91253	0.655000	0.94253	CCC		PASS	0.637	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168		11	79	11	79	---	---	---	---
ABCA13	154664	broad.mit.edu	37	7	48411966	48411966	+	Missense_Mutation	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:48411966A>T	ENST00000435803.1	+	33	11029	c.11005A>T	c.(11005-11007)Agt>Tgt	p.S3669C		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3669					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S3669C(1)|p.S3614C(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTACCTCTTGAGTGCATTTTT	0.433																																						uc003toq.2																			2	Substitution - Missense(2)		lung(2)	ovary(5)|central_nervous_system(4)|skin(1)	10						c.(11005-11007)AGT>TGT		ATP binding cassette, sub-family A (ABC1),							257.0	249.0	251.0					7																	48411966		2015	4193	6208	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48411966A>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.11005A>T	7.37:g.48411966A>T	ENSP00000411096:p.Ser3669Cys					ABCA13_uc010kys.1_Missense_Mutation_p.S743C|ABCA13_uc003tos.1_Missense_Mutation_p.S495C	p.S3669C	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN			33	11030	+			3669					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.11005A>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.952577	0.73787	.	.	ENSG00000179869	ENST00000435803	D	0.93763	-3.28	5.77	3.4	0.38934	.	0.224643	0.32372	N	0.006200	D	0.96315	0.8798	M	0.88181	2.935	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.972;0.987	D	0.95581	0.8646	10	0.87932	D	0	.	7.6716	0.28462	0.775:0.0:0.225:0.0	.	1371;3669	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	C	3669	ENSP00000411096:S3669C	ENSP00000411096:S3669C	S	+	1	0	ABCA13	48382512	1.000000	0.71417	0.400000	0.26346	0.993000	0.82548	2.605000	0.46283	1.110000	0.41699	0.533000	0.62120	AGT		PASS	0.433	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		53	235	53	235	---	---	---	---
DMTF1	9988	broad.mit.edu	37	7	86823350	86823350	+	Missense_Mutation	SNP	G	G	A	rs559125403		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:86823350G>A	ENST00000394703.5	+	18	2523	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	DMTF1_ENST00000331242.7_Missense_Mutation_p.E654K|TMEM243_ENST00000481425.1_5'Flank|DMTF1_ENST00000413276.2_Missense_Mutation_p.E584K|DMTF1_ENST00000432937.2_Missense_Mutation_p.E566K|DMTF1_ENST00000414194.2_Missense_Mutation_p.E388K	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	654	Interaction with CCND1, CCND2 and CCND3. {ECO:0000250}.|Required for transcriptional activation. {ECO:0000250}.				cell cycle (GO:0007049)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E654K(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AACAGAAGAAGAAATCTCTGA	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		22445	0.0		0.0	False		,,,				2504	0.001					uc003uih.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1960-1962)GAA>AAA		cyclin D binding myb-like transcription factor 1							85.0	85.0	85.0					7																	86823350		2203	4300	6503	SO:0001583	missense	9988				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:86823350G>A	AF084530	CCDS5601.1, CCDS47633.1	7q21	2014-06-25			ENSG00000135164	ENSG00000135164			14603	protein-coding gene	gene with protein product	"""cyclin D-binding Myb-like protein"""	608491				10095122, 24958102	Standard	NR_024549		Approved	DMP1, DMTF, hDMP1, MRUL	uc003uih.3	Q9Y222	OTTHUMG00000154135	ENST00000394703.5:c.1960G>A	7.37:g.86823350G>A	ENSP00000378193:p.Glu654Lys					DMTF1_uc003uii.2_Missense_Mutation_p.E388K|DMTF1_uc003uij.2_Missense_Mutation_p.E388K|DMTF1_uc011khb.1_Missense_Mutation_p.E566K|DMTF1_uc003uik.2_RNA|DMTF1_uc003uil.2_Missense_Mutation_p.E654K|DMTF1_uc003uin.2_Missense_Mutation_p.E388K	p.E654K	NM_001142327	NP_001135799	Q9Y222	DMTF1_HUMAN			16	2286	+	Esophageal squamous(14;0.0058)		654			Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for transcriptional activation (By similarity).		B2RBE1|B4DJS5|Q05C48|Q59G79|Q6IS13|Q969T2|Q9H2Z2|Q9H2Z3	Missense_Mutation	SNP	ENST00000394703.5	37	c.1960G>A	CCDS5601.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965018	0.92855	.	.	ENSG00000135164	ENST00000331242;ENST00000413276;ENST00000432937;ENST00000394703;ENST00000414194	T;T;T;T;T	0.55588	0.59;0.51;0.6;0.59;0.6	5.79	5.79	0.91817	.	0.321769	0.27447	N	0.019322	T	0.46288	0.1385	L	0.27053	0.805	0.54753	D	0.999986	D	0.53885	0.963	B	0.44108	0.441	T	0.38178	-0.9673	10	0.36615	T	0.2	-4.2071	19.0117	0.92875	0.0:0.0:1.0:0.0	.	654	Q9Y222	DMTF1_HUMAN	K	654;584;566;654;388	ENSP00000332171:E654K;ENSP00000402627:E584K;ENSP00000412532:E566K;ENSP00000378193:E654K;ENSP00000415910:E388K	ENSP00000332171:E654K	E	+	1	0	DMTF1	86661286	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.575000	0.53870	2.727000	0.93392	0.563000	0.77884	GAA		PASS	0.388	DMTF1-002	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334025.5	NM_021145		19	89	19	89	---	---	---	---
FZD1	8321	broad.mit.edu	37	7	90895882	90895882	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:90895882G>T	ENST00000287934.2	+	1	2100	c.1687G>T	c.(1687-1689)Gac>Tac	p.D563Y		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled class receptor 1	563					autocrine signaling (GO:0035425)|axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in mesenchymal stem cell differentiation (GO:0044338)|canonical Wnt signaling pathway involved in osteoblast differentiation (GO:0044339)|cell-cell signaling (GO:0007267)|epithelial cell differentiation (GO:0030855)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|gonad development (GO:0008406)|hard palate development (GO:0060022)|lung alveolus development (GO:0048286)|membranous septum morphogenesis (GO:0003149)|muscular septum morphogenesis (GO:0003150)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|outflow tract morphogenesis (GO:0003151)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|vasculature development (GO:0001944)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|neuron projection membrane (GO:0032589)|plasma membrane (GO:0005886)	frizzled binding (GO:0005109)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|receptor binding (GO:0005102)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.D563Y(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCCTTCCGGGACCAGTGGGA	0.662																																						uc003ula.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1687-1689)GAC>TAC		frizzled 1 precursor							62.0	51.0	55.0					7																	90895882		2203	4300	6503	SO:0001583	missense	8321				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding	g.chr7:90895882G>T	AB017363	CCDS5620.1	7q21	2014-01-29	2014-01-29		ENSG00000157240	ENSG00000157240		"""GPCR / Class F : Frizzled receptors"""	4038	protein-coding gene	gene with protein product	"""Wnt receptor"", ""frizzled, Drosophila, homolog of, 1"""	603408	"""frizzled (Drosophila) homolog 1"", ""frizzled homolog 1 (Drosophila)"", ""frizzled 1, seven transmembrane spanning receptor"", ""frizzled family receptor 1"""			9813155	Standard	NM_003505		Approved	DKFZp564G072	uc003ula.3	Q9UP38	OTTHUMG00000023046	ENST00000287934.2:c.1687G>T	7.37:g.90895882G>T	ENSP00000287934:p.Asp563Tyr						p.D563Y	NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0134)		1	2100	+	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		563			Extracellular (Potential).		A4D1E8|O94815|Q549T8	Missense_Mutation	SNP	ENST00000287934.2	37	c.1687G>T	CCDS5620.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.653067	0.67472	.	.	ENSG00000157240	ENST00000287934	D	0.82803	-1.65	4.73	4.73	0.59995	GPCR, family 2-like (1);	0.075159	0.50627	D	0.000120	D	0.90068	0.6898	M	0.74647	2.275	0.54753	D	0.999986	D	0.58970	0.984	P	0.62491	0.903	D	0.91295	0.5062	10	0.87932	D	0	.	18.2476	0.89992	0.0:0.0:1.0:0.0	.	563	Q9UP38	FZD1_HUMAN	Y	563	ENSP00000287934:D563Y	ENSP00000287934:D563Y	D	+	1	0	FZD1	90733818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.387000	0.73191	2.607000	0.88179	0.655000	0.94253	GAC		PASS	0.662	FZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059367.2	NM_003505		15	51	15	51	---	---	---	---
MUC17	140453	broad.mit.edu	37	7	100680261	100680261	+	Missense_Mutation	SNP	C	C	A	rs141195508	byFrequency	TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:100680261C>A	ENST00000306151.4	+	3	5628	c.5564C>A	c.(5563-5565)aCc>aAc	p.T1855N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1855	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.T1855N(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCTGAAGGTACCAGCATAGCA	0.478																																						uc003uxp.1																			1	Substitution - Missense(1)		lung(1)	ovary(14)|skin(8)|breast(3)|lung(2)	27						c.(5563-5565)ACC>AAC		mucin 17 precursor							209.0	218.0	215.0					7																	100680261		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100680261C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.5564C>A	7.37:g.100680261C>A	ENSP00000302716:p.Thr1855Asn					MUC17_uc010lho.1_RNA	p.T1855N	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			3	5617	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1855			Extracellular (Potential).|Ser-rich.|29.|59 X approximate tandem repeats.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.5564C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	c	1.754	-0.488515	0.04352	.	.	ENSG00000169876	ENST00000306151	T	0.02472	4.28	0.824	-0.378	0.12497	.	.	.	.	.	T	0.02012	0.0063	N	0.14661	0.345	0.09310	N	1	D	0.59357	0.985	B	0.43728	0.429	T	0.50499	-0.8821	9	0.41790	T	0.15	.	5.8673	0.18783	0.3073:0.6927:0.0:0.0	.	1855	Q685J3	MUC17_HUMAN	N	1855	ENSP00000302716:T1855N	ENSP00000302716:T1855N	T	+	2	0	MUC17	100466981	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.049000	0.11924	-0.088000	0.12506	0.134000	0.15878	ACC		PASS	0.478	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		55	240	55	240	---	---	---	---
PPP1R3A	5506	broad.mit.edu	37	7	113519333	113519333	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:113519333C>A	ENST00000284601.3	-	4	1882	c.1814G>T	c.(1813-1815)aGt>aTt	p.S605I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	605					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.S605I(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCTGCCTTCACTAGTCAAATG	0.418																																						uc010ljy.1																			1	Substitution - Missense(1)		lung(1)	lung(9)|ovary(9)|pancreas(7)|skin(6)|breast(2)|prostate(1)	34						c.(1813-1815)AGT>ATT		protein phosphatase 1, regulatory (inhibitor)							121.0	117.0	119.0					7																	113519333		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113519333C>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.1814G>T	7.37:g.113519333C>A	ENSP00000284601:p.Ser605Ile						p.S605I	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			4	1845	-			605					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.1814G>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	11.23	1.577870	0.28180	.	.	ENSG00000154415	ENST00000284601	T	0.17213	2.29	5.55	-5.1	0.02911	.	1.268860	0.05097	N	0.486244	T	0.14614	0.0353	L	0.60455	1.87	0.09310	N	1	B	0.15473	0.013	B	0.17979	0.02	T	0.41520	-0.9504	10	0.59425	D	0.04	-0.6152	1.8413	0.03150	0.151:0.3453:0.199:0.3048	.	605	Q16821	PPR3A_HUMAN	I	605	ENSP00000284601:S605I	ENSP00000284601:S605I	S	-	2	0	PPP1R3A	113306569	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.708000	0.05035	-0.834000	0.04239	-0.907000	0.02831	AGT		PASS	0.418	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		23	141	23	141	---	---	---	---
AASS	10157	broad.mit.edu	37	7	121738539	121738539	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:121738539C>A	ENST00000393376.1	-	14	1715	c.1620G>T	c.(1618-1620)ctG>ctT	p.L540L	AASS_ENST00000417368.2_Silent_p.L540L|AASS_ENST00000473553.1_5'UTR			Q9UDR5	AASS_HUMAN	aminoadipate-semialdehyde synthase	540	Saccharopine dehydrogenase.				cellular nitrogen compound metabolic process (GO:0034641)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|protein tetramerization (GO:0051262)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity (GO:0047131)|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity (GO:0047130)	p.L540L(2)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54						CCAAGAAGCCCAGCTTCTCTT	0.338																																						uc003vka.2																			2	Substitution - coding silent(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1618-1620)CTG>CTT		aminoadipate-semialdehyde synthase precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						129.0	128.0	128.0					7																	121738539		2203	4300	6503	SO:0001819	synonymous_variant	10157				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	g.chr7:121738539C>A	AF229180	CCDS5783.1	7q31.3	2010-12-14			ENSG00000008311	ENSG00000008311			17366	protein-coding gene	gene with protein product		605113				10775527	Standard	NM_005763		Approved	LORSDH, LKRSDH	uc003vkb.3	Q9UDR5	OTTHUMG00000157058	ENST00000393376.1:c.1620G>T	7.37:g.121738539C>A						AASS_uc011knu.1_RNA|AASS_uc011knv.1_RNA|AASS_uc003vkb.2_Silent_p.L540L|AASS_uc011knw.1_Silent_p.L28L	p.L540L	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN			14	1716	-			540			Saccharopine dehydrogenase.		O95462	Silent	SNP	ENST00000393376.1	37	c.1620G>T	CCDS5783.1																																																																																				PASS	0.338	AASS-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347300.1	NM_005763		25	42	25	42	---	---	---	---
KIAA1549	57670	broad.mit.edu	37	7	138579246	138579246	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:138579246G>A	ENST00000422774.1	-	10	3922	c.3874C>T	c.(3874-3876)Ccg>Tcg	p.P1292S	KIAA1549_ENST00000440172.1_Missense_Mutation_p.P1292S|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1242S			Q9HCM3	K1549_HUMAN	KIAA1549	1292						integral component of membrane (GO:0016021)		p.P1242S(1)|p.P1292S(1)	KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TGGGATTCCGGAGACGGCCTC	0.493			O	BRAF	pilocytic astrocytoma																																NSCLC(119;1534 1718 44213 46230 50068)	uc011kql.1				Dom	yes		7	7q34	57670	O	KIAA1549			O	BRAF		pilocytic astrocytoma	KIAA1549/BRAF(229)	2	Substitution - Missense(2)		lung(2)	central_nervous_system(229)|pancreas(1)	230						c.(3874-3876)CCG>TCG		hypothetical protein LOC57670 isoform 1							103.0	99.0	100.0					7																	138579246		2020	4179	6199	SO:0001583	missense	57670					integral to membrane		g.chr7:138579246G>A		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.3874C>T	7.37:g.138579246G>A	ENSP00000416040:p.Pro1292Ser					KIAA1549_uc011kqi.1_Missense_Mutation_p.P76S|KIAA1549_uc003vuk.3_Missense_Mutation_p.P1242S|KIAA1549_uc011kqj.1_Missense_Mutation_p.P1292S|KIAA1549_uc011kqk.1_Missense_Mutation_p.P76S	p.P1292S	NM_020910	NP_065961	Q9HCM3	K1549_HUMAN			10	3923	-			1292					B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	c.3874C>T	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	G	1.085	-0.665821	0.03428	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.20598	2.06;2.07;2.06	5.66	0.834	0.18880	.	0.378221	0.30869	N	0.008702	T	0.03739	0.0106	N	0.00289	-1.7	0.09310	N	1	B;B;B;B	0.17465	0.022;0.0;0.018;0.0	B;B;B;B	0.23852	0.049;0.001;0.029;0.001	T	0.41574	-0.9501	10	0.13470	T	0.59	.	4.5345	0.12022	0.098:0.3837:0.3831:0.1352	.	1292;76;1292;76	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	S	1292;1242;1292	ENSP00000406661:P1292S;ENSP00000242365:P1242S;ENSP00000416040:P1292S	ENSP00000242365:P1242S	P	-	1	0	KIAA1549	138229786	0.848000	0.29623	0.004000	0.12327	0.242000	0.25591	1.577000	0.36515	0.197000	0.20387	0.655000	0.94253	CCG		PASS	0.493	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1			17	66	17	66	---	---	---	---
TBXAS1	6916	broad.mit.edu	37	7	139529251	139529251	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:139529251C>T	ENST00000455353.1	+	1	199	c.62C>T	c.(61-63)tCa>tTa	p.S21L	TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000263552.6_Missense_Mutation_p.S22L|TBXAS1_ENST00000416849.2_Missense_Mutation_p.S22L|TBXAS1_ENST00000414508.2_Missense_Mutation_p.S22L|TBXAS1_ENST00000458722.1_Missense_Mutation_p.S21L|TBXAS1_ENST00000336425.5_Missense_Mutation_p.S21L|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000539806.1_Missense_Mutation_p.S22L|TBXAS1_ENST00000411653.1_Missense_Mutation_p.S21L|TBXAS1_ENST00000436047.2_Missense_Mutation_p.S22L|TBXAS1_ENST00000448866.1_Missense_Mutation_p.S21L			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	21					arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)	p.S22L(2)		breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	GTGGCCCTGTCAGTGGCTCTC	0.577																																						uc011kqv.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|breast(1)	3						c.(64-66)TCA>TTA		thromboxane A synthase 1, platelet isoform							67.0	59.0	62.0					7																	139529251		2203	4300	6503	SO:0001583	missense	6916				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity	g.chr7:139529251C>T	L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000455353.1:c.62C>T	7.37:g.139529251C>T	ENSP00000391567:p.Ser21Leu					TBXAS1_uc003vvh.2_Missense_Mutation_p.S22L|TBXAS1_uc010lne.2_Intron|TBXAS1_uc011kqu.1_Missense_Mutation_p.S22L|TBXAS1_uc003vvi.2_Missense_Mutation_p.S22L|TBXAS1_uc003vvj.2_Missense_Mutation_p.S22L|TBXAS1_uc011kqw.1_5'UTR|TBXAS1_uc011kqx.1_Missense_Mutation_p.S22L	p.S22L	NM_001130966	NP_001124438	P24557	THAS_HUMAN			1	229	+	Melanoma(164;0.0142)		21			Helical; (Potential).		B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	Missense_Mutation	SNP	ENST00000455353.1	37	c.65C>T		.	.	.	.	.	.	.	.	.	.	C	0.007	-1.969446	0.00457	.	.	ENSG00000059377	ENST00000263552;ENST00000438104;ENST00000336425;ENST00000416849;ENST00000436047;ENST00000414508;ENST00000448866;ENST00000455353;ENST00000458722;ENST00000411653;ENST00000539806	T;T;T;T;T;T;T;T;T;T;T	0.05199	3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48;3.48	5.17	-1.45	0.08828	.	2.534390	0.01466	N	0.016096	T	0.02848	0.0085	N	0.03608	-0.345	0.09310	N	1	B;B;B;B;B;B	0.06786	0.001;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.06405	0.002;0.001;0.001;0.001;0.001;0.001	T	0.40117	-0.9580	10	0.02654	T	1	.	8.8237	0.35041	0.0:0.4483:0.0:0.5517	.	22;22;22;22;22;21	B7Z6W1;E7EP08;B4E0M5;E7EMU9;Q53F23;P24557	.;.;.;.;.;THAS_HUMAN	L	22;21;21;22;22;22;21;21;21;21;22	ENSP00000263552:S22L;ENSP00000388612:S21L;ENSP00000338087:S21L;ENSP00000389414:S22L;ENSP00000392361:S22L;ENSP00000392702:S22L;ENSP00000402536:S21L;ENSP00000391567:S21L;ENSP00000411274:S21L;ENSP00000411326:S21L;ENSP00000444626:S22L	ENSP00000263552:S22L	S	+	2	0	TBXAS1	139175720	0.000000	0.05858	0.001000	0.08648	0.100000	0.18952	-1.248000	0.02890	-0.151000	0.11176	-0.145000	0.13849	TCA		PASS	0.577	TBXAS1-008	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000348380.1			10	36	10	36	---	---	---	---
BRAF	673	broad.mit.edu	37	7	140481411	140481411	+	Missense_Mutation	SNP	C	C	A	rs121913351		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:140481411C>A	ENST00000288602.6	-	11	1457	c.1397G>T	c.(1396-1398)gGa>gTa	p.G466V		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	466	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> A (in melanoma). {ECO:0000269|PubMed:12068308}.|G -> E (in melanoma). {ECO:0000269|PubMed:12068308}.|G -> V (in LNCR). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12460919}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.G466V(15)|p.G466E(5)|p.G466A(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCCAAATGATCCAGATCCAAT	0.378	G466V(CAL12T_LUNG)|G466V(NCIH1666_LUNG)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.3	G466V(NCIH1666_LUNG)|G466V(CAL12T_LUNG)	61		Dom	yes		7	7q34	673	Mis|T|O	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	AKAP9|KIAA1549		melanoma|colorectal|papillary thyroid|borderline ov|Non small-cell lung cancer (NSCLC)|cholangiocarcinoma|pilocytic astrocytoma	KIAA1549/BRAF(229)|AKAP9_ENST00000356239/BRAF(10)|AGTRAP/BRAF(2)|FCHSD1/BRAF(2)|SLC45A3/BRAF(2)	21	Substitution - Missense(21)	p.G466V(12)|p.G466E(5)|p.G466A(3)|p.G466R(2)	lung(10)|skin(7)|ovary(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)	thyroid(8166)|large_intestine(5052)|skin(3798)|NS(368)|central_nervous_system(284)|ovary(236)|lung(78)|eye(53)|prostate(44)|endometrium(30)|biliary_tract(28)|soft_tissue(27)|haematopoietic_and_lymphoid_tissue(22)|breast(18)|upper_aerodigestive_tract(13)|stomach(13)|pancreas(10)|small_intestine(10)|testis(7)|bone(6)|cervix(5)|genital_tract(4)|oesophagus(3)|urinary_tract(3)|adrenal_gland(3)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|meninges(1)|kidney(1)|autonomic_ganglia(1)|pituitary(1)|salivary_gland(1)	18290						c.(1396-1398)GGA>GTA		B-Raf	Sorafenib(DB00398)						173.0	148.0	156.0					7																	140481411		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous_syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140481411C>A	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1397G>T	7.37:g.140481411C>A	ENSP00000288602:p.Gly466Val						p.G466V	NM_004333	NP_004324	P15056	BRAF_HUMAN			11	1458	-	Melanoma(164;0.00956)		466		G -> V (in LNCR).|G -> A (in melanoma).|G -> E (in melanoma).	ATP (By similarity).|Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1397G>T	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.9|26.9	4.783205|4.783205	0.90282|0.90282	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000496384|ENST00000288602	.|D	.|0.99931	.|-8.17	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.100477	.|0.64402	.|D	.|0.000002	D|D	0.99953|0.99953	0.9980|0.9980	H|H	0.99225|0.99225	4.475|4.475	0.80722|0.80722	D|D	1|1	.|D	.|0.67145	.|0.996	.|D	.|0.69142	.|0.962	D|D	0.96300|0.96300	0.9220|0.9220	5|10	.|0.87932	.|D	.|0	.|.	17.8428|17.8428	0.88720|0.88720	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|466	.|P15056	.|BRAF_HUMAN	Y|V	74|466	.|ENSP00000288602:G466V	.|ENSP00000288602:G466V	D|G	-|-	1|2	0|0	BRAF|BRAF	140127880|140127880	1.000000|1.000000	0.71417|0.71417	0.926000|0.926000	0.36857|0.36857	0.983000|0.983000	0.72400|0.72400	7.818000|7.818000	0.86416|0.86416	2.637000|2.637000	0.89404|0.89404	0.585000|0.585000	0.79938|0.79938	GAT|GGA		PASS	0.378	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		31	80	31	80	---	---	---	---
OR9A4	130075	broad.mit.edu	37	7	141618739	141618739	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:141618739C>A	ENST00000548136.1	+	1	123	c.64C>A	c.(64-66)Cta>Ata	p.L22I	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	22						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L22I(1)		NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CTCTGAAGAACTACATCATAT	0.378																																						uc003vwu.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(64-66)CTA>ATA		olfactory receptor, family 9, subfamily A,							240.0	247.0	245.0					7																	141618739		2159	4282	6441	SO:0001583	missense	130075				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr7:141618739C>A		CCDS43661.1	7q34	2012-10-03			ENSG00000258083	ENSG00000258083		"""GPCR / Class A : Olfactory receptors"""	15095	protein-coding gene	gene with protein product							Standard	NM_001001656		Approved		uc003vwu.1	Q8NGU2	OTTHUMG00000158370	ENST00000548136.1:c.64C>A	7.37:g.141618739C>A	ENSP00000448789:p.Leu22Ile						p.L22I	NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN			1	64	+	Melanoma(164;0.0171)		22			Extracellular (Potential).		B9EGV6|Q6IFI4	Missense_Mutation	SNP	ENST00000548136.1	37	c.64C>A	CCDS43661.1	.	.	.	.	.	.	.	.	.	.	.	1.656	-0.512634	0.04200	.	.	ENSG00000258083	ENST00000548136	T	0.01304	5.03	3.88	1.02	0.19986	.	.	.	.	.	T	0.01489	0.0048	L	0.43646	1.37	0.09310	N	1	B	0.14805	0.011	B	0.17979	0.02	T	0.46721	-0.9171	9	0.52906	T	0.07	-0.95	2.5683	0.04788	0.2156:0.4678:0.0:0.3166	.	22	Q8NGU2	OR9A4_HUMAN	I	22	ENSP00000448789:L22I	ENSP00000386148:L22I	L	+	1	2	OR9A4	141265208	0.000000	0.05858	0.002000	0.10522	0.018000	0.09664	-0.963000	0.03837	0.412000	0.25729	-0.148000	0.13756	CTA		PASS	0.378	OR9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350806.3	NM_001001656		71	169	71	169	---	---	---	---
CLCN1	1180	broad.mit.edu	37	7	143039210	143039210	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:143039210C>G	ENST00000343257.2	+	15	1858	c.1771C>G	c.(1771-1773)Cct>Gct	p.P591A		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	591					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)	p.P591A(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					ACCCTACTTGCCTGACCTTGG	0.552																																						uc003wcr.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5						c.(1771-1773)CCT>GCT		chloride channel 1, skeletal muscle							66.0	61.0	62.0					7																	143039210		2203	4300	6503	SO:0001583	missense	1180				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr7:143039210C>G	Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1771C>G	7.37:g.143039210C>G	ENSP00000339867:p.Pro591Ala					CLCN1_uc011ktc.1_Missense_Mutation_p.P203A	p.P591A	NM_000083	NP_000074	P35523	CLCN1_HUMAN			15	1858	+	Melanoma(164;0.205)		591			Cytoplasmic (By similarity).		A4D2H5|Q2M202	Missense_Mutation	SNP	ENST00000343257.2	37	c.1771C>G	CCDS5881.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.989461	0.93106	.	.	ENSG00000188037	ENST00000343257	D	0.92965	-3.14	6.04	6.04	0.98038	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.96027	0.8706	M	0.71206	2.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95347	0.8443	10	0.59425	D	0.04	.	20.5801	0.99389	0.0:1.0:0.0:0.0	.	591	P35523	CLCN1_HUMAN	A	591	ENSP00000339867:P591A	ENSP00000339867:P591A	P	+	1	0	CLCN1	142749332	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.811000	0.86092	2.873000	0.98535	0.643000	0.83706	CCT		PASS	0.552	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327420.1	NM_000083		12	74	12	74	---	---	---	---
ARHGEF5	7984	broad.mit.edu	37	7	144060783	144060783	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:144060783C>G	ENST00000056217.5	+	2	1195	c.1021C>G	c.(1021-1023)Cag>Gag	p.Q341E	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	341					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Q341E(1)		breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GGCGGACTCTCAGGACGAAAA	0.517																																						uc003wel.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(1021-1023)CAG>GAG		rho guanine nucleotide exchange factor 5							112.0	99.0	104.0					7																	144060783		2084	4008	6092	SO:0001583	missense	7984				intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr7:144060783C>G	U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1021C>G	7.37:g.144060783C>G	ENSP00000056217:p.Gln341Glu					ARHGEF5_uc003wek.2_Missense_Mutation_p.Q341E	p.Q341E	NM_005435	NP_005426	Q12774	ARHG5_HUMAN			2	1139	+	Melanoma(164;0.14)		341					A6NNJ2|Q6ZML7	Missense_Mutation	SNP	ENST00000056217.5	37	c.1021C>G	CCDS34771.1	.	.	.	.	.	.	.	.	.	.	C	13.20	2.167264	0.38315	.	.	ENSG00000050327	ENST00000056217	T	0.74526	-0.85	3.85	1.97	0.26223	.	.	.	.	.	T	0.56499	0.1989	L	0.52573	1.65	0.09310	N	1	P	0.43477	0.808	B	0.27887	0.084	T	0.51694	-0.8673	8	.	.	.	-0.1926	3.5715	0.07918	0.1966:0.5802:0.0:0.2233	.	341	Q12774	ARHG5_HUMAN	E	341	ENSP00000056217:Q341E	.	Q	+	1	0	ARHGEF5	143691716	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.472000	0.22116	0.827000	0.34685	-0.266000	0.10368	CAG		PASS	0.517	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349981.1	NM_005435		50	71	50	71	---	---	---	---
EZH2	2146	broad.mit.edu	37	7	148515176	148515176	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:148515176C>T	ENST00000460911.1	-	10	1106	c.1018G>A	c.(1018-1020)Gct>Act	p.A340T	EZH2_ENST00000350995.2_Missense_Mutation_p.A301T|EZH2_ENST00000541220.1_Missense_Mutation_p.A331T|EZH2_ENST00000478654.1_Missense_Mutation_p.A331T|EZH2_ENST00000536783.1_3'UTR|EZH2_ENST00000476773.1_Missense_Mutation_p.A331T|EZH2_ENST00000320356.2_Missense_Mutation_p.A345T|EZH2_ENST00000483967.1_Missense_Mutation_p.A331T|RNU7-20P_ENST00000515903.1_RNA			Q15910	EZH2_HUMAN	enhancer of zeste 2 polycomb repressive complex 2 subunit	340	Interaction with CDYL.|Interaction with DNMT1, DNMT3A and DNMT3B.				cellular response to hydrogen peroxide (GO:0070301)|cerebellar cortex development (GO:0021695)|chromatin organization (GO:0006325)|DNA methylation (GO:0006306)|G1 to G0 transition (GO:0070314)|histone H3-K27 methylation (GO:0070734)|negative regulation of epidermal cell differentiation (GO:0045605)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|protein localization to chromatin (GO:0071168)|regulation of cell proliferation (GO:0042127)|regulation of circadian rhythm (GO:0042752)|regulation of gliogenesis (GO:0014013)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|RNA binding (GO:0003723)|sequence-specific DNA binding (GO:0043565)	p.A345T(2)|p.A301T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATCCGCTCAGCGGTGAGAGCA	0.488			Mis		DLBCL																																	uc003wfd.1				Rec?	yes		7	7q35-q36	2146	Mis	enhancer of zeste homolog 2			L			DLBCL		3	Substitution - Missense(3)	p.A345T(1)	lung(2)|haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(180)|skin(2)|large_intestine(1)	183						c.(1018-1020)GCT>ACT		enhancer of zeste 2 isoform a							114.0	112.0	112.0					7																	148515176		2203	4300	6503	SO:0001583	missense	2146				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr7:148515176C>T		CCDS5891.1, CCDS5892.1, CCDS56516.1, CCDS56517.1, CCDS56518.1	7q35-q36	2014-09-17	2014-05-28		ENSG00000106462	ENSG00000106462		"""Chromatin-modifying enzymes / K-methyltransferases"""	3527	protein-coding gene	gene with protein product		601573	"""enhancer of zeste (Drosophila) homolog 2"", ""enhancer of zeste homolog 2 (Drosophila)"""			8954776, 17172412	Standard	NM_152998		Approved	EZH1, ENX-1, KMT6, KMT6A	uc003wfb.2	Q15910	OTTHUMG00000158973	ENST00000460911.1:c.1018G>A	7.37:g.148515176C>T	ENSP00000419711:p.Ala340Thr					EZH2_uc011kug.1_Missense_Mutation_p.A331T|EZH2_uc003wfb.1_Missense_Mutation_p.A345T|EZH2_uc003wfc.1_Missense_Mutation_p.A301T|EZH2_uc011kuh.1_Missense_Mutation_p.A331T|EZH2_uc011kui.1_Missense_Mutation_p.A340T|EZH2_uc011kuj.1_RNA	p.A340T	NM_004456	NP_004447	Q15910	EZH2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00239)		10	1184	-	Melanoma(164;0.15)		340			Interaction with DNMT1, DNMT3A and DNMT3B.		B2RAQ1|B3KS30|B7Z1D6|B7Z7L6|Q15755|Q75MG3|Q92857|Q96FI6	Missense_Mutation	SNP	ENST00000460911.1	37	c.1018G>A	CCDS56516.1	.	.	.	.	.	.	.	.	.	.	c	19.66	3.869977	0.72065	.	.	ENSG00000106462	ENST00000478654;ENST00000320356;ENST00000460911;ENST00000350995;ENST00000541220;ENST00000476773;ENST00000483967	T;T;T;T;T;T;T	0.79352	-1.26;-1.26;-1.26;-1.26;-1.26;-1.26;-1.26	5.78	5.78	0.91487	.	0.057124	0.64402	D	0.000001	T	0.65893	0.2735	N	0.19112	0.55	0.80722	D	1	B;B;B;B;B;B	0.30361	0.277;0.01;0.004;0.013;0.01;0.046	B;B;B;B;B;B	0.15870	0.014;0.004;0.001;0.003;0.006;0.009	T	0.62723	-0.6794	10	0.37606	T	0.19	.	20.0139	0.97470	0.0:1.0:0.0:0.0	.	340;331;331;340;301;345	B7Z8K5;Q15910-4;Q15910-5;Q15910;Q15910-3;Q15910-2	.;.;.;EZH2_HUMAN;.;.	T	331;345;340;301;331;331;331	ENSP00000417062:A331T;ENSP00000320147:A345T;ENSP00000419711:A340T;ENSP00000223193:A301T;ENSP00000443219:A331T;ENSP00000419050:A331T;ENSP00000419856:A331T	ENSP00000320147:A345T	A	-	1	0	EZH2	148146109	0.998000	0.40836	0.929000	0.37066	0.969000	0.65631	4.134000	0.57990	2.724000	0.93272	0.563000	0.77884	GCT		PASS	0.488	EZH2-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352744.1	NM_004456		4	161	4	161	---	---	---	---
SSPO	23145	broad.mit.edu	37	7	149502658	149502658	+	RNA	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:149502658C>T	ENST00000378016.2	+	0	8471							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCTGCAGCCCCCCTGTATGC	0.667																																						uc010lpk.2																			0					0						c.(8470-8472)CCC>CTC		SCO-spondin precursor							30.0	36.0	34.0					7																	149502658		1871	4089	5960			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149502658C>T	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149502658C>T							p.P2824L	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		58	8471	+	Melanoma(164;0.165)|Ovarian(565;0.177)		2824			TSP type-1 7.		Q76B61	Missense_Mutation	SNP	ENST00000378016.2	37	c.8471C>T																																																																																					PASS	0.667	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				9	44	9	44	---	---	---	---
GIMAP1	170575	broad.mit.edu	37	7	150417443	150417443	+	Silent	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:150417443G>T	ENST00000307194.5	+	3	491	c.351G>T	c.(349-351)ctG>ctT	p.L117L		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	117	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)	p.L117L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCTGCTCCTGGTGACCCAGT	0.617																																						uc003whq.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(349-351)CTG>CTT		GTPase, IMAP family member 1							44.0	43.0	43.0					7																	150417443		2203	4300	6503	SO:0001819	synonymous_variant	170575					endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr7:150417443G>T	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.351G>T	7.37:g.150417443G>T						GIMAP1_uc003whp.2_Silent_p.L125L	p.L117L	NM_130759	NP_570115	Q8WWP7	GIMA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	438	+			117			Cytoplasmic (Potential).		B2RCI3|Q8NAZ0	Silent	SNP	ENST00000307194.5	37	c.351G>T	CCDS5906.1																																																																																				PASS	0.617	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		15	52	15	52	---	---	---	---
KMT2C	58508	broad.mit.edu	37	7	151932935	151932935	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:151932935C>T	ENST00000262189.6	-	16	2954	c.2736G>A	c.(2734-2736)ctG>ctA	p.L912L	KMT2C_ENST00000355193.2_Silent_p.L912L	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	912					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.L912L(2)									TTCCACTTTTCAGCTTTGACC	0.488																																						uc003wla.2										N							medulloblastoma		2	Substitution - coding silent(2)		lung(2)	large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	63						c.(2734-2736)CTG>CTA		myeloid/lymphoid or mixed-lineage leukemia 3							67.0	61.0	63.0					7																	151932935		2202	4284	6486	SO:0001819	synonymous_variant	58508				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	g.chr7:151932935C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.2736G>A	7.37:g.151932935C>T						MLL3_uc003wkz.2_5'UTR	p.L912L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)	16	2955	-	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	912					Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.2736G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.237161	0.22711	.	.	ENSG00000055609	ENST00000418673	.	.	.	5.0	0.0662	0.14360	.	.	.	.	.	T	0.51991	0.1707	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43376	-0.9395	4	.	.	.	.	6.4424	0.21856	0.0:0.5078:0.304:0.1881	.	.	.	.	K	68	.	.	E	-	1	0	MLL3	151563868	0.298000	0.24417	0.991000	0.47740	0.948000	0.59901	-0.400000	0.07241	0.400000	0.25396	-0.482000	0.04802	GAA		PASS	0.488	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			19	94	19	94	---	---	---	---
HTR5A	3361	broad.mit.edu	37	7	154862998	154862998	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr7:154862998G>A	ENST00000287907.2	+	1	965	c.389G>A	c.(388-390)tGg>tAg	p.W130*	HTR5A-AS1_ENST00000543018.1_Nonsense_Mutation_p.Q6*|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_Nonsense_Mutation_p.Q6*	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	130					cAMP-mediated signaling (GO:0019933)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|hippocampus development (GO:0021766)|response to estradiol (GO:0032355)|serotonin receptor signaling pathway (GO:0007210)	dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	serotonin receptor activity (GO:0004993)	p.W130*(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	Asenapine(DB06216)|Loxapine(DB00408)|Olanzapine(DB00334)	GCCAGCATCTGGAACGTGACG	0.647																																						uc003wlu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(388-390)TGG>TAG		5-hydroxytryptamine receptor 5A							73.0	55.0	61.0					7																	154862998		2203	4300	6503	SO:0001587	stop_gained	3361					integral to plasma membrane	serotonin receptor activity	g.chr7:154862998G>A		CCDS5936.1	7q36.1	2012-08-08	2012-02-03		ENSG00000157219	ENSG00000157219		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5300	protein-coding gene	gene with protein product		601305	"""5-hydroxytryptamine (serotonin) receptor 5A"""			7988681	Standard	NM_024012		Approved	5-HT5A	uc003wlu.2	P47898	OTTHUMG00000151327	ENST00000287907.2:c.389G>A	7.37:g.154862998G>A	ENSP00000287907:p.Trp130*					uc011kvt.1_Nonsense_Mutation_p.Q6*|uc003wlt.2_Nonsense_Mutation_p.Q6*	p.W130*	NM_024012	NP_076917	P47898	5HT5A_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)	1	453	+	all_neural(206;0.119)	all_hematologic(28;0.0592)	130			Helical; Name=3; (By similarity).		Q2M2D2	Nonsense_Mutation	SNP	ENST00000287907.2	37	c.389G>A	CCDS5936.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.750755|9.750755	0.99255|0.99255	.|.	.|.	ENSG00000220575|ENSG00000157219	ENST00000395731;ENST00000543018|ENST00000287907	.|.	.|.	.|.	4.52|4.52	4.52|4.52	0.55395|0.55395	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.87932|0.34782	D|T	0|0.22	.|.	17.4477|17.4477	0.87583|0.87583	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|X	6|130	.|.	ENSP00000379080:Q6X|ENSP00000287907:W130X	Q|W	-|+	1|2	0|0	AC093726.4|HTR5A	154493931|154493931	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.881000|0.881000	0.50899|0.50899	7.399000|7.399000	0.79935|0.79935	2.338000|2.338000	0.79540|0.79540	0.563000|0.563000	0.77884|0.77884	CAG|TGG		PASS	0.647	HTR5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322240.1	NM_024012		11	41	11	41	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2815331	2815331	+	Splice_Site	SNP	T	T	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:2815331T>A	ENST00000520002.1	-	64	10261		c.e64-2		CSMD1_ENST00000537824.1_Splice_Site|CSMD1_ENST00000542608.1_Splice_Site|CSMD1_ENST00000400186.3_Splice_Site|CSMD1_ENST00000602557.1_Splice_Site|CSMD1_ENST00000602723.1_Splice_Site			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1							integral component of membrane (GO:0016021)		p.?(2)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTCCAACCTAGAGAGGAAA	0.458																																						uc011kwk.1																			2	Unknown(2)		lung(2)	breast(20)|large_intestine(5)	25						c.e63-1		CUB and Sushi multiple domains 1 precursor							61.0	56.0	58.0					8																	2815331		1890	4113	6003	SO:0001630	splice_region_variant	64478					integral to membrane		g.chr8:2815331T>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9706-2A>T	8.37:g.2815331T>A						CSMD1_uc011kwj.1_Splice_Site_p.V2565_splice|CSMD1_uc010lrg.2_Splice_Site_p.V1127_splice	p.V3236_splice	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	63	10096	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)						Q0H0J5|Q96QU9|Q96RM4	Splice_Site	SNP	ENST00000520002.1	37	c.9706_splice		.	.	.	.	.	.	.	.	.	.	T	23.2	4.383179	0.82792	.	.	ENSG00000183117	ENST00000335551;ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8754	0.79156	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSMD1	2802738	1.000000	0.71417	0.920000	0.36463	0.754000	0.42855	7.800000	0.85949	2.202000	0.70862	0.523000	0.50628	.		PASS	0.458	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	Intron	5	4	5	4	---	---	---	---
PRSS55	203074	broad.mit.edu	37	8	10383125	10383125	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:10383125G>A	ENST00000328655.3	+	1	70	c.30G>A	c.(28-30)ctG>ctA	p.L10L	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.L10L	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	10						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)	p.L10L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGCTGCTCCTGTCCCTGGTCA	0.672																																						uc003wta.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(28-30)CTG>CTA		hypothetical protein LOC203074 precursor							99.0	80.0	87.0					8																	10383125		2203	4300	6503	SO:0001819	synonymous_variant	203074				proteolysis	integral to membrane	serine-type endopeptidase activity	g.chr8:10383125G>A	AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.30G>A	8.37:g.10383125G>A						uc010lru.2_Intron	p.L10L	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN			1	45	+			10					E5RJX5	Silent	SNP	ENST00000328655.3	37	c.30G>A	CCDS5976.1																																																																																				PASS	0.672	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251493.3	NM_198464		15	65	15	65	---	---	---	---
RP1L1	94137	broad.mit.edu	37	8	10468421	10468421	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:10468421C>A	ENST00000382483.3	-	4	3410	c.3187G>T	c.(3187-3189)Gag>Tag	p.E1063*		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1063					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)		p.E1063*(1)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTGGGGCCTCTCTGTCTGCT	0.677																																						uc003wtc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(3)|central_nervous_system(1)	8						c.(3187-3189)GAG>TAG		retinitis pigmentosa 1-like 1							8.0	10.0	9.0					8																	10468421		1800	3971	5771	SO:0001587	stop_gained	94137				intracellular signal transduction			g.chr8:10468421C>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.3187G>T	8.37:g.10468421C>A	ENSP00000371923:p.Glu1063*						p.E1063*	NM_178857	NP_849188	Q8IWN7	RP1L1_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	3416	-			1063					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Nonsense_Mutation	SNP	ENST00000382483.3	37	c.3187G>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	C	40	8.091936	0.98648	.	.	ENSG00000183638	ENST00000382483	.	.	.	4.48	2.39	0.29439	.	0.484900	0.15453	N	0.261530	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-7.0881	6.2553	0.20870	0.0:0.7529:0.0:0.2471	.	.	.	.	X	1063	.	ENSP00000371923:E1063X	E	-	1	0	RP1L1	10505831	0.001000	0.12720	0.007000	0.13788	0.013000	0.08279	0.985000	0.29578	0.970000	0.38263	0.313000	0.20887	GAG		PASS	0.677	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			9	10	9	10	---	---	---	---
CCAR2	57805	broad.mit.edu	37	8	22465539	22465539	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:22465539C>A	ENST00000308511.4	+	7	794	c.545C>A	c.(544-546)cCt>cAt	p.P182H	CCAR2_ENST00000520861.1_5'UTR|CCAR2_ENST00000389279.3_Missense_Mutation_p.P182H			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2	182					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)	p.P182H(1)									AACAGATTTCCTGCCCGGGGC	0.473																																						uc003xch.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(544-546)CCT>CAT		p30 DBC protein							172.0	191.0	185.0					8																	22465539		2203	4300	6503	SO:0001583	missense	57805				apoptosis|positive regulation of apoptosis	mitochondrial matrix|nucleus	enzyme binding|enzyme inhibitor activity	g.chr8:22465539C>A	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.545C>A	8.37:g.22465539C>A	ENSP00000310670:p.Pro182His					KIAA1967_uc003xci.2_Missense_Mutation_p.P182H|KIAA1967_uc003xcj.1_Translation_Start_Site	p.P182H	NM_199205	NP_954675	Q8N163	K1967_HUMAN		BRCA - Breast invasive adenocarcinoma(99;0.00593)|Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)	7	682	+		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)	182					A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	Missense_Mutation	SNP	ENST00000308511.4	37	c.545C>A	CCDS34863.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805134	0.90623	.	.	ENSG00000158941	ENST00000308511;ENST00000389279	T;T	0.30714	1.52;1.52	5.82	5.82	0.92795	.	0.165197	0.44097	D	0.000489	T	0.43144	0.1234	N	0.22421	0.69	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.35301	-0.9794	10	0.66056	D	0.02	-15.8786	17.0158	0.86419	0.0:1.0:0.0:0.0	.	182	Q8N163	K1967_HUMAN	H	182	ENSP00000310670:P182H;ENSP00000373930:P182H	ENSP00000310670:P182H	P	+	2	0	KIAA1967	22521484	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.134000	0.57990	2.752000	0.94435	0.655000	0.94253	CCT		PASS	0.473	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375865.1	NM_021174		5	242	5	242	---	---	---	---
KCTD9	54793	broad.mit.edu	37	8	25303650	25303650	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:25303650C>G	ENST00000221200.4	-	2	385	c.165G>C	c.(163-165)ttG>ttC	p.L55F	KCTD9_ENST00000518067.1_5'UTR	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	55	KHA. {ECO:0000255|PROSITE- ProRule:PRU00823}.				protein homooligomerization (GO:0051260)			p.L55F(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		GTTACCTGATCAAAGCAATAT	0.403																																						uc003xeo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(163-165)TTG>TTC		potassium channel tetramerisation domain							119.0	96.0	104.0					8																	25303650		2203	4300	6503	SO:0001583	missense	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25303650C>G	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.165G>C	8.37:g.25303650C>G	ENSP00000221200:p.Leu55Phe					PPP2R2A_uc003xek.2_Intron	p.L55F	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	2	323	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	55			KHA.		Q6NUM8|Q9NXV4	Missense_Mutation	SNP	ENST00000221200.4	37	c.165G>C	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001671	0.54254	.	.	ENSG00000104756	ENST00000221200	D	0.86297	-2.1	5.62	3.83	0.44106	Potassium channel, plant-type (2);	0.000000	0.64402	U	0.000019	D	0.90683	0.7077	M	0.72894	2.215	0.54753	D	0.999982	D	0.69078	0.997	D	0.81914	0.995	D	0.88109	0.2824	10	0.39692	T	0.17	.	6.3879	0.21572	0.0:0.6553:0.1322:0.2125	.	55	Q7L273	KCTD9_HUMAN	F	55	ENSP00000221200:L55F	ENSP00000221200:L55F	L	-	3	2	KCTD9	25359567	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.479000	0.22228	0.842000	0.35045	0.650000	0.86243	TTG		PASS	0.403	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		12	44	12	44	---	---	---	---
KCTD9	54793	broad.mit.edu	37	8	25303661	25303661	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:25303661C>T	ENST00000221200.4	-	2	374	c.154G>A	c.(154-156)Gat>Aat	p.D52N	KCTD9_ENST00000518067.1_5'UTR	NM_017634.3	NP_060104.2	Q7L273	KCTD9_HUMAN	potassium channel tetramerization domain containing 9	52	KHA. {ECO:0000255|PROSITE- ProRule:PRU00823}.				protein homooligomerization (GO:0051260)			p.D52N(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		AAAGCAATATCATCAATCAGT	0.403																																						uc003xeo.2																			1	Substitution - Missense(1)		lung(1)		0						c.(154-156)GAT>AAT		potassium channel tetramerisation domain							122.0	98.0	106.0					8																	25303661		2203	4300	6503	SO:0001583	missense	54793					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr8:25303661C>T	BC021216	CCDS6048.1	8p21.1	2013-06-20	2013-06-20		ENSG00000104756	ENSG00000104756		"""BTB/POZ domain containing"""	22401	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 9"""			11483580	Standard	NM_017634		Approved	FLJ20038, BTBD27	uc003xeo.3	Q7L273	OTTHUMG00000099428	ENST00000221200.4:c.154G>A	8.37:g.25303661C>T	ENSP00000221200:p.Asp52Asn					PPP2R2A_uc003xek.2_Intron	p.D52N	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)	2	312	-		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)	52			KHA.		Q6NUM8|Q9NXV4	Missense_Mutation	SNP	ENST00000221200.4	37	c.154G>A	CCDS6048.1	.	.	.	.	.	.	.	.	.	.	C	36	5.773354	0.96922	.	.	ENSG00000104756	ENST00000221200	D	0.86694	-2.16	5.62	5.62	0.85841	Potassium channel, plant-type (2);	0.000000	0.85682	U	0.000000	D	0.95007	0.8384	M	0.89715	3.055	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.95195	0.8311	10	0.72032	D	0.01	.	20.0205	0.97499	0.0:1.0:0.0:0.0	.	52	Q7L273	KCTD9_HUMAN	N	52	ENSP00000221200:D52N	ENSP00000221200:D52N	D	-	1	0	KCTD9	25359578	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.378000	0.79679	2.801000	0.96364	0.650000	0.86243	GAT		PASS	0.403	KCTD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216890.1	NM_017634		11	53	11	53	---	---	---	---
HMBOX1	79618	broad.mit.edu	37	8	28827693	28827693	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:28827693C>G	ENST00000397358.3	+	4	861	c.157C>G	c.(157-159)Ctt>Gtt	p.L53V	HMBOX1_ENST00000558662.1_Missense_Mutation_p.L53V|HMBOX1_ENST00000403668.2_Missense_Mutation_p.L53V|HMBOX1_ENST00000519047.1_Missense_Mutation_p.L53V|HMBOX1_ENST00000355231.5_Missense_Mutation_p.L53V|HMBOX1_ENST00000287701.10_Missense_Mutation_p.L53V|HMBOX1_ENST00000524238.1_Missense_Mutation_p.L53V|HMBOX1_ENST00000523613.1_Missense_Mutation_p.L53V|HMBOX1_ENST00000444075.1_Missense_Mutation_p.L53V	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	53					negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.L53V(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TTTGGACCGTCTTGATCAAGA	0.443																																						uc003xhd.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(157-159)CTT>GTT		homeobox containing 1							119.0	109.0	112.0					8																	28827693		2203	4300	6503	SO:0001583	missense	79618				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr8:28827693C>G	AY522342	CCDS6071.1	8p12	2013-05-23			ENSG00000147421	ENSG00000147421		"""Homeoboxes / HNF class"""	26137	protein-coding gene	gene with protein product	"""homeobox telomere-binding protein 1"""					16825764	Standard	NM_024567		Approved	HNF1LA, PBHNF, FLJ21616, HOT1	uc003xhd.4	Q6NT76	OTTHUMG00000172138	ENST00000397358.3:c.157C>G	8.37:g.28827693C>G	ENSP00000380516:p.Leu53Val					HMBOX1_uc010lvd.2_Missense_Mutation_p.L53V|HMBOX1_uc003xhc.3_Missense_Mutation_p.L53V|HMBOX1_uc010lve.2_RNA|HMBOX1_uc003xhe.2_Missense_Mutation_p.L53V|HMBOX1_uc011lay.1_Missense_Mutation_p.L53V|HMBOX1_uc003xhf.2_Missense_Mutation_p.L41V|HMBOX1_uc003xhg.2_Missense_Mutation_p.L41V	p.L53V	NM_001135726	NP_001129198	Q6NT76	HMBX1_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)	3	499	+		Ovarian(32;0.0192)	53					A4K385|A8K3R8|B4DHY5|D3DSU0|Q3Y6P1|Q96GS5|Q9H701	Missense_Mutation	SNP	ENST00000397358.3	37	c.157C>G	CCDS6071.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596678	0.86953	.	.	ENSG00000147421	ENST00000287701;ENST00000444075;ENST00000403668;ENST00000519662;ENST00000519047;ENST00000397358;ENST00000524238;ENST00000517340;ENST00000355231	T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.62	5.62	0.85841	Hepatocyte nuclear factor 1, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.72882	0.3516	M	0.65498	2.005	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.997;0.999	D;D;D;D;D;D	0.87578	0.996;0.998;0.996;0.996;0.995;0.998	T	0.74044	-0.3791	10	0.66056	D	0.02	-5.5378	19.6604	0.95864	0.0:1.0:0.0:0.0	.	53;53;53;53;53;53	Q6NT76-5;D3DSU2;Q6NT76-2;Q6NT76-3;Q6NT76;E5RGZ2	.;.;.;.;HMBX1_HUMAN;.	V	53	ENSP00000287701:L53V;ENSP00000401769:L53V;ENSP00000384261:L53V;ENSP00000429767:L53V;ENSP00000430059:L53V;ENSP00000380516:L53V;ENSP00000430110:L53V	ENSP00000287701:L53V	L	+	1	0	HMBOX1	28883612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.636000	0.67848	2.648000	0.89879	0.655000	0.94253	CTT		PASS	0.443	HMBOX1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255267.4	NM_024567		36	103	36	103	---	---	---	---
WRN	7486	broad.mit.edu	37	8	30921849	30921849	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:30921849G>T	ENST00000298139.5	+	4	503	c.254G>T	c.(253-255)tGg>tTg	p.W85L		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	85	3'-5' exonuclease.|Interaction with WRNIP1. {ECO:0000250}.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)	p.W85L(1)		central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GACATGGAGTGGCCACCATTA	0.363			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	uc003xio.3			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Mis|N|F|S	Werner syndrome (RECQL2)			"""L, E, M, O"""		osteosarcoma|meningioma|others			1	Substitution - Missense(1)		lung(1)	ovary(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	7						c.(253-255)TGG>TTG	Genes_defective_in_diseases_associated_with_sensitivity_to_DNA_damaging_agents	Werner syndrome protein							211.0	193.0	199.0					8																	30921849		2203	4300	6503	SO:0001583	missense	7486	Werner_syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30921849G>T		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.254G>T	8.37:g.30921849G>T	ENSP00000298139:p.Trp85Leu						p.W85L	NM_000553	NP_000544	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	4	1042	+		Breast(100;0.195)	85			Interaction with WRNIP1 (By similarity).|3'-5' exonuclease.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.254G>T	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.551631	0.86127	.	.	ENSG00000165392	ENST00000298139	T	0.65364	-0.15	5.7	5.7	0.88788	-5&apos (2);Ribonuclease H-like (1); exonuclease (2);3&apos (2);	0.000000	0.85682	D	0.000000	D	0.87055	0.6082	H	0.96916	3.905	0.49213	D	0.999761	D	0.89917	1.0	D	0.97110	1.0	D	0.90914	0.4778	10	0.87932	D	0	-7.8514	19.4169	0.94704	0.0:0.0:1.0:0.0	.	85	Q14191	WRN_HUMAN	L	85	ENSP00000298139:W85L	ENSP00000298139:W85L	W	+	2	0	WRN	31041391	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.808000	0.86044	2.678000	0.91216	0.655000	0.94253	TGG		PASS	0.363	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			54	114	54	114	---	---	---	---
IDO2	169355	broad.mit.edu	37	8	39806779	39806779	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:39806779C>G	ENST00000389060.4	+	1	95	c.95C>G	c.(94-96)tCt>tGt	p.S32C	RP11-44K6.3_ENST00000517623.1_RNA|IDO2_ENST00000502986.2_Missense_Mutation_p.S45C|IDO2_ENST00000343295.4_3'UTR			Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	32					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)|tryptophan catabolic process to kynurenine (GO:0019441)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	heme binding (GO:0020037)|indoleamine 2,3-dioxygenase activity (GO:0033754)|metal ion binding (GO:0046872)|tryptophan 2,3-dioxygenase activity (GO:0004833)	p.S45F(1)|p.S32C(1)|p.S45C(1)|p.S32F(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CTTCCAGATTCTCTGGTAAGG	0.383																																						uc010lwy.1																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)	ovary(2)	2						c.(133-135)TCT>TGT		indoleamine-pyrrole 2,3 dioxygenase-like 1							54.0	51.0	52.0					8																	39806779		1867	4100	5967	SO:0001583	missense	169355				tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity	g.chr8:39806779C>G	AK128691		8p11.21	2012-04-19	2009-01-07	2009-01-07	ENSG00000188676	ENSG00000188676			27269	protein-coding gene	gene with protein product		612129	"""indoleamine-pyrrole 2,3 dioxygenase-like 1"""	INDOL1			Standard	NM_194294		Approved		uc010lwy.1	Q6ZQW0	OTTHUMG00000141271	ENST00000389060.4:c.95C>G	8.37:g.39806779C>G	ENSP00000426447:p.Ser32Cys					IDO2_uc003xno.1_RNA	p.S45C	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN			2	376	+			32					A4UD41	Missense_Mutation	SNP	ENST00000389060.4	37	c.134C>G		.	.	.	.	.	.	.	.	.	.	-	18.11	3.551750	0.65311	.	.	ENSG00000188676	ENST00000502986;ENST00000389060	T;T	0.43688	0.94;0.94	4.92	4.92	0.64577	.	0.064020	0.64402	D	0.000007	T	0.28797	0.0714	N	0.14661	0.345	0.23823	N	0.996741	P	0.51791	0.948	B	0.44163	0.443	T	0.13522	-1.0506	9	.	.	.	.	13.5172	0.61547	0.0:1.0:0.0:0.0	.	45	F5H5G0	.	C	45;32	ENSP00000443432:S45C;ENSP00000426447:S32C	.	S	+	2	0	IDO2	39925936	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.550000	0.53691	2.550000	0.86006	0.645000	0.84053	TCT		PASS	0.383	IDO2-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372742.1	NM_194294		8	13	8	13	---	---	---	---
PXDNL	137902	broad.mit.edu	37	8	52384806	52384806	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:52384806G>A	ENST00000356297.4	-	8	853	c.753C>T	c.(751-753)gtC>gtT	p.V251V	PXDNL_ENST00000543296.1_Silent_p.V251V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	251	Ig-like C2-type 1.				hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)	p.V251V(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGGTGAAGTAGACGGTATTTC	0.438																																						uc003xqu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(751-753)GTC>GTT		peroxidasin homolog-like precursor							172.0	164.0	166.0					8																	52384806		1880	4099	5979	SO:0001819	synonymous_variant	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52384806G>A		CCDS47855.1	8q11.21-q11.22	2013-02-18	2007-01-12		ENSG00000147485	ENSG00000147485		"""Immunoglobulin superfamily / I-set domain containing"""	26359	protein-coding gene	gene with protein product	"""polysomal ribonuclease 1 homolog (Xenopus)"""	615904	"""peroxidasin homolog-like (Drosophila)"""			22543864	Standard	NM_144651		Approved	FLJ25471, PMR1	uc003xqu.4	A1KZ92	OTTHUMG00000164244	ENST00000356297.4:c.753C>T	8.37:g.52384806G>A							p.V251V	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			8	854	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	251			Ig-like C2-type 1.		B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Silent	SNP	ENST00000356297.4	37	c.753C>T	CCDS47855.1																																																																																				PASS	0.438	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651		50	176	50	176	---	---	---	---
CYP7A1	1581	broad.mit.edu	37	8	59410849	59410849	+	Missense_Mutation	SNP	T	T	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:59410849T>A	ENST00000301645.3	-	2	397	c.260A>T	c.(259-261)aAg>aTg	p.K87M		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	87					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.K87M(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GCACAACACCTTATGGTATGA	0.353									Neonatal Giant Cell Hepatitis																													uc003xtm.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(259-261)AAG>ATG		cytochrome P450, family 7, subfamily A,							119.0	123.0	122.0					8																	59410849		2203	4300	6503	SO:0001583	missense	1581	Neonatal_Giant_Cell_Hepatitis	Familial Cancer Database	Neonatal Hemochromatosis	bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	g.chr8:59410849T>A	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.260A>T	8.37:g.59410849T>A	ENSP00000301645:p.Lys87Met						p.K87M	NM_000780	NP_000771	P22680	CP7A1_HUMAN			2	323	-		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)	87					P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	ENST00000301645.3	37	c.260A>T	CCDS6171.1	.	.	.	.	.	.	.	.	.	.	T	21.0	4.087533	0.76642	.	.	ENSG00000167910	ENST00000301645	T	0.69806	-0.43	5.9	4.79	0.61399	.	0.157483	0.64402	D	0.000020	T	0.63153	0.2487	L	0.44542	1.39	0.42819	D	0.993983	P	0.43231	0.801	P	0.45946	0.498	T	0.65631	-0.6121	10	0.49607	T	0.09	-26.9	11.098	0.48157	0.0:0.0:0.3815:0.6185	.	87	P22680	CP7A1_HUMAN	M	87	ENSP00000301645:K87M	ENSP00000301645:K87M	K	-	2	0	CYP7A1	59573403	1.000000	0.71417	0.792000	0.32020	0.968000	0.65278	7.298000	0.78815	2.254000	0.74563	0.482000	0.46254	AAG		PASS	0.353	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1	NM_000780		82	86	82	86	---	---	---	---
PREX2	80243	broad.mit.edu	37	8	69021791	69021791	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:69021791C>G	ENST00000288368.4	+	25	3356	c.3079C>G	c.(3079-3081)Cag>Gag	p.Q1027E		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1027					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.Q1027E(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGACATCTATCAGAAACTGCT	0.453																																						uc003xxv.1																			1	Substitution - Missense(1)		lung(1)	skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(3079-3081)CAG>GAG		DEP domain containing 2 isoform a							126.0	125.0	125.0					8																	69021791		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69021791C>G	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.3079C>G	8.37:g.69021791C>G	ENSP00000288368:p.Gln1027Glu					PREX2_uc011lez.1_Missense_Mutation_p.Q962E	p.Q1027E	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			25	3106	+			1027					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.3079C>G	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	16.95	3.263712	0.59431	.	.	ENSG00000046889	ENST00000288368	T	0.35048	1.33	5.72	4.84	0.62591	.	.	.	.	.	T	0.32645	0.0836	L	0.40543	1.245	0.43803	D	0.99635	B	0.06786	0.001	B	0.14023	0.01	T	0.04551	-1.0943	9	0.31617	T	0.26	.	16.7318	0.85436	0.0:0.8706:0.1294:0.0	.	1027	Q70Z35	PREX2_HUMAN	E	1027	ENSP00000288368:Q1027E	ENSP00000288368:Q1027E	Q	+	1	0	PREX2	69184345	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.602000	0.67612	1.394000	0.46624	0.655000	0.94253	CAG		PASS	0.453	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		48	148	48	148	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77763549	77763549	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:77763549C>T	ENST00000521891.2	+	10	4840	c.4392C>T	c.(4390-4392)ccC>ccT	p.P1464P	ZFHX4_ENST00000518282.1_Silent_p.P1438P|ZFHX4_ENST00000455469.2_Silent_p.P1419P|ZFHX4_ENST00000050961.6_Silent_p.P1419P	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1419					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.P1464P(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTCCTTGCCCGTGAATGGAG	0.507										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(4255-4257)CCC>CCT		zinc finger homeodomain 4							43.0	41.0	41.0					8																	77763549		2000	4175	6175	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763549C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4392C>T	8.37:g.77763549C>T		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.P1464P|ZFHX4_uc003yaw.1_Silent_p.P1419P	p.P1419P	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4644	+			1419					G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.4257C>T	CCDS47878.2																																																																																				PASS	0.507	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		12	32	12	32	---	---	---	---
ZFHX4	79776	broad.mit.edu	37	8	77765673	77765673	+	Silent	SNP	T	T	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:77765673T>G	ENST00000521891.2	+	10	6964	c.6516T>G	c.(6514-6516)gtT>gtG	p.V2172V	ZFHX4_ENST00000518282.1_Silent_p.V2146V|ZFHX4_ENST00000455469.2_Silent_p.V2127V|ZFHX4_ENST00000050961.6_Silent_p.V2127V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2127					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.V2156V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCCAAAAAGTTATCAAACACT	0.363										HNSCC(33;0.089)																												uc003yav.2																			1	Substitution - coding silent(1)		lung(1)	ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(6379-6381)GTT>GTG		zinc finger homeodomain 4							87.0	85.0	86.0					8																	77765673		1828	4078	5906	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77765673T>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.6516T>G	8.37:g.77765673T>G		HNSCC(33;0.089)				ZFHX4_uc003yau.1_Silent_p.V2172V|ZFHX4_uc003yaw.1_Silent_p.V2127V	p.V2127V	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	6768	+			2127			Homeobox 1.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.6381T>G	CCDS47878.2																																																																																				PASS	0.363	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		99	122	99	122	---	---	---	---
E2F5	1875	broad.mit.edu	37	8	86121488	86121488	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:86121488G>A	ENST00000416274.2	+	6	761	c.727G>A	c.(727-729)Gtt>Att	p.V243I	E2F5_ENST00000521429.1_Missense_Mutation_p.V70I|E2F5_ENST00000418930.2_Missense_Mutation_p.V243I|E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000256117.5_Missense_Mutation_p.V244I|E2F5_ENST00000517476.1_Missense_Mutation_p.V82I	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	243					gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.V243I(1)		NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GGTTTTTCCTGTTCCCCCACC	0.458																																						uc003ycz.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(727-729)GTT>ATT		E2F transcription factor 5 isoform 1							132.0	132.0	132.0					8																	86121488		1999	4169	6168	SO:0001583	missense	1875				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr8:86121488G>A	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785	ENST00000416274.2:c.727G>A	8.37:g.86121488G>A	ENSP00000398124:p.Val243Ile					E2F5_uc003yda.3_Missense_Mutation_p.V243I|E2F5_uc010mab.2_Missense_Mutation_p.V82I|E2F5_uc003ydb.3_Missense_Mutation_p.V62I	p.V243I	NM_001951	NP_001942	Q15329	E2F5_HUMAN			6	764	+			243					E9PBN9|Q16601|Q92756	Missense_Mutation	SNP	ENST00000416274.2	37	c.727G>A	CCDS47885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.430790|4.430790	0.83776|0.83776	.|.	.|.	ENSG00000133740|ENSG00000133740	ENST00000520225|ENST00000418930;ENST00000256117;ENST00000416274;ENST00000517476;ENST00000521429;ENST00000518234	.|D;D;D;D;D;D	.|0.88975	.|-2.45;-2.45;-2.45;-2.45;-2.45;-2.45	6.13|6.13	4.29|4.29	0.51040|0.51040	.|.	.|0.055345	.|0.64402	.|N	.|0.000001	D|D	0.93638|0.93638	0.7968|0.7968	M|M	0.81802|0.81802	2.56|2.56	0.58432|0.58432	D|D	0.999998|0.999998	.|B;D;D	.|0.76494	.|0.069;0.999;0.999	.|B;D;D	.|0.72982	.|0.058;0.979;0.953	D|D	0.92975|0.92975	0.6401|0.6401	5|10	.|0.51188	.|T	.|0.08	-16.7134|-16.7134	11.8543|11.8543	0.52429|0.52429	0.1459:0.0:0.8541:0.0|0.1459:0.0:0.8541:0.0	.|.	.|70;243;243	.|E5RHD4;Q15329-2;Q15329	.|.;.;E2F5_HUMAN	Y|I	14|243;244;243;82;70;79	.|ENSP00000414312:V243I;ENSP00000256117:V244I;ENSP00000398124:V243I;ENSP00000429120:V82I;ENSP00000428606:V70I;ENSP00000429669:V79I	.|ENSP00000256117:V244I	C|V	+|+	2|1	0|0	E2F5|E2F5	86308740|86308740	1.000000|1.000000	0.71417|0.71417	0.142000|0.142000	0.22268|0.22268	0.997000|0.997000	0.91878|0.91878	7.591000|7.591000	0.82666|0.82666	0.876000|0.876000	0.35872|0.35872	0.650000|0.650000	0.86243|0.86243	TGT|GTT		PASS	0.458	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		13	100	13	100	---	---	---	---
MMP16	4325	broad.mit.edu	37	8	89339329	89339329	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:89339329C>T	ENST00000286614.6	-	1	388	c.107G>A	c.(106-108)gGa>gAa	p.G36E	MMP16_ENST00000544227.1_5'UTR|RP11-586K2.1_ENST00000523254.1_RNA|RP11-586K2.1_ENST00000521433.1_RNA|RP11-586K2.1_ENST00000520849.1_RNA	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	36					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G36E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	CTGCTCCGTTCCGCAGACTGT	0.502																																						uc003yeb.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(2)|ovary(2)|central_nervous_system(1)|urinary_tract(1)|skin(1)|kidney(1)	8						c.(106-108)GGA>GAA		matrix metalloproteinase 16 isoform 1							138.0	120.0	126.0					8																	89339329		2203	4300	6503	SO:0001583	missense	4325				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding	g.chr8:89339329C>T	D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.107G>A	8.37:g.89339329C>T	ENSP00000286614:p.Gly36Glu					MMP16_uc003yec.2_Missense_Mutation_p.G36E	p.G36E	NM_005941	NP_005932	P51512	MMP16_HUMAN			1	389	-			36					B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	ENST00000286614.6	37	c.107G>A	CCDS6246.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.633913	0.47049	.	.	ENSG00000156103	ENST00000286614;ENST00000522726	T;T	0.37411	1.2;1.2	5.58	4.65	0.58169	.	0.705929	0.14408	N	0.321447	T	0.18383	0.0441	N	0.08118	0	0.30923	N	0.727836	B;B	0.20988	0.05;0.0	B;B	0.18871	0.023;0.001	T	0.06552	-1.0820	10	0.29301	T	0.29	.	8.2355	0.31622	0.0:0.7501:0.161:0.0889	.	36;36	P51512-2;P51512	.;MMP16_HUMAN	E	36;53	ENSP00000286614:G36E;ENSP00000429147:G53E	ENSP00000286614:G36E	G	-	2	0	MMP16	89408445	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.232000	0.32636	2.621000	0.88768	0.563000	0.77884	GGA		PASS	0.502	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375304.2	NM_005941		6	148	6	148	---	---	---	---
RBM12B	389677	broad.mit.edu	37	8	94746677	94746677	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:94746677G>A	ENST00000399300.2	-	3	2175	c.1962C>T	c.(1960-1962)ccC>ccT	p.P654P	RBM12B_ENST00000517700.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	654							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.P654P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTCCTCAGGGGGTTGCCTGA	0.642																																						uc003yfz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1960-1962)CCC>CCT		RNA binding motif protein 12B							87.0	89.0	88.0					8																	94746677		1861	4091	5952	SO:0001819	synonymous_variant	389677						nucleotide binding|RNA binding	g.chr8:94746677G>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1962C>T	8.37:g.94746677G>A							p.P654P	NM_203390	NP_976324	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	2155	-	Breast(36;4.14e-07)		654					A8MYB5	Silent	SNP	ENST00000399300.2	37	c.1962C>T	CCDS43755.1																																																																																				PASS	0.642	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		55	221	55	221	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100568799	100568799	+	Nonsense_Mutation	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:100568799A>T	ENST00000358544.2	+	31	5053	c.4942A>T	c.(4942-4944)Aag>Tag	p.K1648*	VPS13B_ENST00000357162.2_Nonsense_Mutation_p.K1623*|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1648					protein transport (GO:0015031)			p.K1623*(1)|p.K1648*(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAAACCAGAGAAGGAAAGTGT	0.438																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(4942-4944)AAG>TAG		vacuolar protein sorting 13B isoform 5							89.0	83.0	85.0					8																	100568799		2203	4300	6503	SO:0001587	stop_gained	157680				protein transport			g.chr8:100568799A>T	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4942A>T	8.37:g.100568799A>T	ENSP00000351346:p.Lys1648*					VPS13B_uc003yiw.2_Nonsense_Mutation_p.K1623*	p.K1648*	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		31	5053	+	Breast(36;3.73e-07)		1648					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	ENST00000358544.2	37	c.4942A>T	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	45	11.932643	0.99618	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.4561	0.75314	1.0:0.0:0.0:0.0	.	.	.	.	X	1623;1648	.	ENSP00000349685:K1623X	K	+	1	0	VPS13B	100637975	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	6.098000	0.71458	2.053000	0.61076	0.528000	0.53228	AAG		PASS	0.438	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		9	89	9	89	---	---	---	---
LRP12	29967	broad.mit.edu	37	8	105502956	105502956	+	Nonsense_Mutation	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:105502956A>T	ENST00000276654.5	-	7	2633	c.2525T>A	c.(2524-2526)tTa>tAa	p.L842*	LRP12_ENST00000518375.1_5'UTR|LRP12_ENST00000424843.2_Nonsense_Mutation_p.L823*	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	842					endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)	p.L842*(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTACTTCTAAGCAAGTGTC	0.433																																						uc003yma.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(2524-2526)TTA>TAA		low density lipoprotein-related protein 12							151.0	132.0	139.0					8																	105502956		2203	4300	6503	SO:0001587	stop_gained	29967				endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding	g.chr8:105502956A>T	AF166350	CCDS6303.1, CCDS47907.1	8q22.2	2013-02-27	2010-01-26		ENSG00000147650	ENSG00000147650		"""Low density lipoprotein receptors"""	31708	protein-coding gene	gene with protein product						12809483, 14676824	Standard	NM_013437		Approved	ST7, FLJ12929	uc003yma.3	Q9Y561	OTTHUMG00000164892	ENST00000276654.5:c.2525T>A	8.37:g.105502956A>T	ENSP00000276654:p.Leu842*					LRP12_uc003ymb.2_Nonsense_Mutation_p.L823*|LRP12_uc003ylz.2_Nonsense_Mutation_p.L248*	p.L842*	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)		7	2620	-			842			Cytoplasmic (Potential).		A8K137|B4DRQ2	Nonsense_Mutation	SNP	ENST00000276654.5	37	c.2525T>A	CCDS6303.1	.	.	.	.	.	.	.	.	.	.	A	38	7.184704	0.98121	.	.	ENSG00000147650	ENST00000424843;ENST00000276654;ENST00000520873	.	.	.	5.81	4.63	0.57726	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.5485	12.1711	0.54160	0.8718:0.0:0.0:0.1282	.	.	.	.	X	823;842;207	.	ENSP00000276654:L842X	L	-	2	0	LRP12	105572132	1.000000	0.71417	0.787000	0.31911	0.895000	0.52256	5.624000	0.67764	0.984000	0.38629	0.528000	0.53228	TTA		PASS	0.433	LRP12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380821.1	NM_013437		39	134	39	134	---	---	---	---
PKHD1L1	93035	broad.mit.edu	37	8	110497275	110497275	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:110497275G>T	ENST00000378402.5	+	58	9683	c.9579G>T	c.(9577-9579)gaG>gaT	p.E3193D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3193					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.E3195D(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTCTAAGGAGGGAGAAGAGA	0.279										HNSCC(38;0.096)																												uc003yne.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(9577-9579)GAG>GAT		fibrocystin L precursor							55.0	51.0	52.0					8																	110497275		1806	4060	5866	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110497275G>T	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.9579G>T	8.37:g.110497275G>T	ENSP00000367655:p.Glu3193Asp	HNSCC(38;0.096)					p.E3193D	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		58	9683	+			3193			Extracellular (Potential).		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.9579G>T	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907670	0.52333	.	.	ENSG00000205038	ENST00000378402;ENST00000526472	D;D	0.83075	-1.68;-1.68	5.3	-1.5	0.08691	.	0.156998	0.41294	D	0.000919	T	0.71693	0.3370	L	0.46157	1.445	0.23391	N	0.997771	B	0.24823	0.112	B	0.26614	0.071	T	0.62163	-0.6912	10	0.66056	D	0.02	.	4.0524	0.09801	0.3357:0.0:0.4049:0.2595	.	3193	Q86WI1	PKHL1_HUMAN	D	3193;121	ENSP00000367655:E3193D;ENSP00000437376:E121D	ENSP00000367655:E3193D	E	+	3	2	PKHD1L1	110566451	0.993000	0.37304	0.998000	0.56505	0.998000	0.95712	0.072000	0.14617	-0.001000	0.14495	0.563000	0.77884	GAG		PASS	0.279	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		10	62	10	62	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113518987	113518987	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:113518987G>A	ENST00000297405.5	-	29	5072	c.4828C>T	c.(4828-4830)Cat>Tat	p.H1610Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.H1570Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.H1610Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.H1506Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1610	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.H1610Y(1)|p.H1570Y(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCTCTGCTATGCGGATATGGA	0.383										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(4828-4830)CAT>TAT		CUB and Sushi multiple domains 3 isoform 1							128.0	120.0	123.0					8																	113518987		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113518987G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.4828C>T	8.37:g.113518987G>A	ENSP00000297405:p.His1610Tyr	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.H882Y|CSMD3_uc003ynt.2_Missense_Mutation_p.H1570Y|CSMD3_uc011lhx.1_Missense_Mutation_p.H1506Y	p.H1610Y	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			29	4987	-			1610			Extracellular (Potential).|CUB 9.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.4828C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.425589	0.83667	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07	4.99	4.99	0.66335	CUB (5);	0.000000	0.85682	D	0.000000	T	0.37544	0.1007	M	0.65677	2.01	0.40869	D	0.983899	D;D;P	0.62365	0.989;0.991;0.919	P;P;P	0.60609	0.702;0.877;0.628	T	0.23261	-1.0193	10	0.02654	T	1	.	18.4644	0.90750	0.0:0.0:1.0:0.0	.	1506;1610;1570	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	Y	1570;1610;950;1506;1610	ENSP00000345799:H1570Y;ENSP00000297405:H1610Y;ENSP00000341558:H950Y;ENSP00000412263:H1506Y;ENSP00000343124:H1610Y	ENSP00000297405:H1610Y	H	-	1	0	CSMD3	113588163	1.000000	0.71417	0.835000	0.33067	0.780000	0.44128	9.657000	0.98554	2.587000	0.87381	0.557000	0.71058	CAT		PASS	0.383	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		27	87	27	87	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	114448937	114448937	+	Silent	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:114448937G>C	ENST00000297405.5	-	1	391	c.147C>G	c.(145-147)ctC>ctG	p.L49L	CSMD3_ENST00000352409.3_Silent_p.L49L|CSMD3_ENST00000455883.2_Silent_p.L49L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	49						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L49L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAAAAGACGAGGTTCCAAA	0.507										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			1	Substitution - coding silent(1)		lung(1)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(145-147)CTC>CTG		CUB and Sushi multiple domains 3 isoform 1							197.0	203.0	201.0					8																	114448937		2203	4300	6503	SO:0001819	synonymous_variant	114788					integral to membrane|plasma membrane		g.chr8:114448937G>C	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.147C>G	8.37:g.114448937G>C		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc011lhx.1_Silent_p.L49L|CSMD3_uc010mcx.1_Silent_p.L49L|CSMD3_uc003ynx.3_Silent_p.L49L	p.L49L	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			1	306	-			49			Helical; (Potential).		Q96PZ3	Silent	SNP	ENST00000297405.5	37	c.147C>G	CCDS6315.1																																																																																				PASS	0.507	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		94	285	94	285	---	---	---	---
ZHX2	22882	broad.mit.edu	37	8	123964740	123964740	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:123964740G>A	ENST00000314393.4	+	3	1825	c.990G>A	c.(988-990)cgG>cgA	p.R330R		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	330	Required for homodimerization.|Required for interaction with NFYA.|Required for nuclear localization.|Required for repressor activity.				mRNA catabolic process (GO:0006402)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.R330R(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			AGGAGGCCCGGAAGAAGATGT	0.597																																					Esophageal Squamous(94;1056 1388 11767 13799 49639)	uc003ypk.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|skin(1)	2						c.(988-990)CGG>CGA		zinc fingers and homeoboxes 2							97.0	82.0	87.0					8																	123964740		2203	4300	6503	SO:0001819	synonymous_variant	22882					cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:123964740G>A	AB020661	CCDS6336.1	8q24.13	2012-03-09	2004-01-23		ENSG00000178764	ENSG00000178764		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	18513	protein-coding gene	gene with protein product		609185	"""zinc-fingers and homeoboxes 2"""			10048485, 12741956	Standard	XM_005250837		Approved	KIAA0854	uc003ypk.1	Q9Y6X8	OTTHUMG00000165077	ENST00000314393.4:c.990G>A	8.37:g.123964740G>A							p.R330R	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		3	1557	+	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		330			Required for interaction with NFYA.|Required for homodimerization.|Required for repressor activity.|Required for nuclear localization.			Silent	SNP	ENST00000314393.4	37	c.990G>A	CCDS6336.1																																																																																				PASS	0.597	ZHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381709.1	NM_014943		42	120	42	120	---	---	---	---
FAM83A	84985	broad.mit.edu	37	8	124219473	124219473	+	Missense_Mutation	SNP	G	G	A	rs370437311		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:124219473G>A	ENST00000518448.1	+	5	2864	c.850G>A	c.(850-852)Gag>Aag	p.E284K	FAM83A_ENST00000522648.1_Missense_Mutation_p.E228K|FAM83A_ENST00000546351.1_Missense_Mutation_p.E228K|FAM83A_ENST00000276699.6_Missense_Mutation_p.E284K|FAM83A_ENST00000536633.1_Missense_Mutation_p.E284K|FAM83A_ENST00000318462.6_Missense_Mutation_p.E284K			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	284								p.E284K(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCTGTTTGACGAGGAGTTCCG	0.662																																						uc003ypv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(850-852)GAG>AAG		hypothetical protein LOC84985 isoform a		G	LYS/GLU,LYS/GLU	0,4406		0,0,2203	33.0	29.0	30.0		850,850	4.0	1.0	8		30	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	FAM83A	NM_032899.4,NM_207006.1	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	284/435,284/368	124219473	1,13005	2203	4300	6503	SO:0001583	missense	84985							g.chr8:124219473G>A	BC052300	CCDS6339.1, CCDS6340.1, CCDS75784.1	8q24.13	2014-03-13			ENSG00000147689	ENSG00000147689			28210	protein-coding gene	gene with protein product						22886303	Standard	XM_005251087		Approved	MGC14128, BJ-TSA-9	uc003ypx.3	Q86UY5	OTTHUMG00000165083	ENST00000518448.1:c.850G>A	8.37:g.124219473G>A	ENSP00000428876:p.Glu284Lys					FAM83A_uc003ypw.2_Missense_Mutation_p.E284K|FAM83A_uc003ypy.2_Missense_Mutation_p.E228K|FAM83A_uc003ypx.2_Missense_Mutation_p.E284K|FAM83A_uc003ypz.2_Missense_Mutation_p.E284K	p.E284K	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	STAD - Stomach adenocarcinoma(47;0.00527)		5	2864	+	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		284					Q71HL2|Q8N7I1|Q96I47	Missense_Mutation	SNP	ENST00000518448.1	37	c.850G>A	CCDS6340.1	.	.	.	.	.	.	.	.	.	.	G	15.80	2.940509	0.52972	0.0	1.16E-4	ENSG00000147689	ENST00000518448;ENST00000546351;ENST00000536633;ENST00000318462;ENST00000522648;ENST00000276699	T;T;T;T;T;T	0.13538	2.71;2.58;2.71;2.71;2.58;2.71	4.85	3.96	0.45880	.	0.193900	0.44688	D	0.000429	T	0.25121	0.0610	L	0.59912	1.85	0.49483	D	0.999799	D;P;D	0.57899	0.981;0.901;0.96	P;B;P	0.54706	0.759;0.09;0.448	T	0.02477	-1.1153	10	0.23302	T	0.38	-25.6449	15.3486	0.74363	0.0:0.1404:0.8596:0.0	.	228;284;284	Q86UY5-2;Q86UY5-3;Q86UY5	.;.;FA83A_HUMAN	K	284;228;284;284;228;284	ENSP00000428876:E284K;ENSP00000440565:E228K;ENSP00000445218:E284K;ENSP00000323034:E284K;ENSP00000427979:E228K;ENSP00000276699:E284K	ENSP00000276699:E284K	E	+	1	0	FAM83A	124288654	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	4.237000	0.58681	1.145000	0.42336	0.436000	0.28706	GAG		PASS	0.662	FAM83A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381737.1	NM_032899		4	53	4	53	---	---	---	---
ATAD2	29028	broad.mit.edu	37	8	124408548	124408548	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:124408548G>T	ENST00000287394.5	-	1	157	c.50C>A	c.(49-51)tCg>tAg	p.S17*	ATAD2_ENST00000521903.1_Intron	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	17					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.S17*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCCCGTGGCCGAGGCCGCGGA	0.682																																						uc003yqh.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)	2						c.(49-51)TCG>TAG		ATPase family, AAA domain containing 2							20.0	26.0	24.0					8																	124408548		2201	4299	6500	SO:0001587	stop_gained	29028				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity	g.chr8:124408548G>T	BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.50C>A	8.37:g.124408548G>T	ENSP00000287394:p.Ser17*					ATAD2_uc011lii.1_5'UTR|ATAD2_uc003yqi.3_Intron|ATAD2_uc003yqj.2_Nonsense_Mutation_p.S17*	p.S17*	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		1	158	-	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		17					Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Nonsense_Mutation	SNP	ENST00000287394.5	37	c.50C>A	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	G	36	5.805551	0.96967	.	.	ENSG00000156802	ENST00000287394	.	.	.	4.54	4.54	0.55810	.	3.460850	0.00879	N	0.002112	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.0793	12.6532	0.56774	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	ENSP00000287394:S17X	S	-	2	0	ATAD2	124477729	0.403000	0.25319	0.687000	0.30102	0.532000	0.34746	2.447000	0.44917	2.327000	0.79052	0.561000	0.74099	TCG		PASS	0.682	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109		8	45	8	45	---	---	---	---
ASAP1	50807	broad.mit.edu	37	8	131130450	131130450	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:131130450C>A	ENST00000518721.1	-	20	2064	c.1837G>T	c.(1837-1839)Gat>Tat	p.D613Y	ASAP1_ENST00000357668.1_Missense_Mutation_p.D613Y	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	613					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)	p.D613Y(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GATGTCTGATCTGCAGTTCGG	0.403																																						uc003yta.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1837-1839)GAT>TAT		development and differentiation enhancing factor							80.0	79.0	79.0					8																	131130450		2203	4300	6503	SO:0001583	missense	50807				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	g.chr8:131130450C>A	AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.1837G>T	8.37:g.131130450C>A	ENSP00000429900:p.Asp613Tyr					ASAP1_uc003ysz.1_Missense_Mutation_p.D424Y|ASAP1_uc011liw.1_Missense_Mutation_p.D606Y	p.D613Y	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN			19	1865	-			613			ANK 1.		B2RNV3	Missense_Mutation	SNP	ENST00000518721.1	37	c.1837G>T	CCDS6362.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.7|29.7	5.030018|5.030018	0.93575|0.93575	.|.	.|.	ENSG00000153317|ENSG00000153317	ENST00000343135;ENST00000357668;ENST00000518721|ENST00000524124;ENST00000519483	T;T|.	0.65178|.	-0.14;-0.14|.	5.8|5.8	5.8|5.8	0.92144|0.92144	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75049|0.75049	0.3797|0.3797	M|M	0.67569|0.67569	2.06|2.06	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	1.0;1.0;0.999|.	T|T	0.72487|0.72487	-0.4278|-0.4278	10|5	0.72032|.	D|.	0.01|.	.|.	18.6411|18.6411	0.91396|0.91396	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	613;613;616|.	B2RNV3;Q9ULH1;Q9ULH1-2|.	.;ASAP1_HUMAN;.|.	Y|I	616;613;613|433;26	ENSP00000350297:D613Y;ENSP00000429900:D613Y|.	ENSP00000344591:D616Y|.	D|R	-|-	1|2	0|0	ASAP1|ASAP1	131199632|131199632	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.968000|0.968000	0.65278|0.65278	7.440000|7.440000	0.80464|0.80464	2.741000|2.741000	0.93983|0.93983	0.650000|0.650000	0.86243|0.86243	GAT|AGA		PASS	0.403	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482		31	102	31	102	---	---	---	---
CYP11B2	1585	broad.mit.edu	37	8	143996481	143996481	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:143996481G>C	ENST00000323110.2	-	3	578	c.576C>G	c.(574-576)atC>atG	p.I192M		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	192					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.I192M(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	TGTAGTGGAAGATGCTGGGCT	0.637									Familial Hyperaldosteronism type I																													uc003yxk.1																			1	Substitution - Missense(1)		lung(1)		0						c.(574-576)ATC>ATG		cytochrome P450, family 11, subfamily B,	Candesartan(DB00796)|Metyrapone(DB01011)						47.0	44.0	45.0					8																	143996481		2203	4300	6503	SO:0001583	missense	1585	Familial_Hyperaldosteronism_type_I	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	g.chr8:143996481G>C	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.576C>G	8.37:g.143996481G>C	ENSP00000325822:p.Ile192Met						p.I192M	NM_000498	NP_000489	P19099	C11B2_HUMAN			3	579	-	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)		192					B0ZBE4|Q16726	Missense_Mutation	SNP	ENST00000323110.2	37	c.576C>G	CCDS6393.1	.	.	.	.	.	.	.	.	.	.	.	8.990	0.977496	0.18812	.	.	ENSG00000179142	ENST00000323110	T	0.69561	-0.41	3.44	2.55	0.30701	.	0.546908	0.16682	N	0.203887	T	0.54919	0.1888	L	0.45698	1.435	0.24817	N	0.992608	B	0.24258	0.1	B	0.29077	0.098	T	0.47262	-0.9131	10	0.45353	T	0.12	.	4.3657	0.11223	0.1305:0.2384:0.6311:0.0	.	192	P19099	C11B2_HUMAN	M	192	ENSP00000325822:I192M	ENSP00000325822:I192M	I	-	3	3	CYP11B2	143993483	0.999000	0.42202	0.055000	0.19348	0.798000	0.45092	0.215000	0.17562	1.910000	0.55303	0.561000	0.74099	ATC		PASS	0.637	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359904.1			9	48	9	48	---	---	---	---
TIGD5	84948	broad.mit.edu	37	8	144681126	144681126	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:144681126G>T	ENST00000504548.2	+	1	1053	c.1053G>T	c.(1051-1053)caG>caT	p.Q351H	EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000528610.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000423316.2_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.Q302H	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	351	DDE 1.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.Q302H(1)		NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCCTGCAGCAGAAGGCCGTGC	0.706																																						uc003yyx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(904-906)CAG>CAT		tigger transposable element derived 5							5.0	7.0	6.0					8																	144681126		2061	4128	6189	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681126G>T	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1053G>T	8.37:g.144681126G>T	ENSP00000421489:p.Gln351His					EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	p.Q302H	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	906	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		351					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.906G>T	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904328	0.52333	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.46063	0.88;0.88	4.61	3.74	0.42951	.	0.000000	0.53938	U	0.000051	T	0.51601	0.1684	L	0.37630	1.12	0.27690	N	0.946144	D	0.71674	0.998	D	0.74348	0.983	T	0.45862	-0.9232	10	0.56958	D	0.05	.	12.0051	0.53255	0.0846:0.0:0.9154:0.0	.	302	Q53EQ6	TIGD5_HUMAN	H	351;302	ENSP00000421489:Q351H;ENSP00000315906:Q302H	ENSP00000315906:Q302H	Q	+	3	2	TIGD5	144752269	1.000000	0.71417	0.999000	0.59377	0.684000	0.39900	3.376000	0.52417	0.937000	0.37394	-0.224000	0.12420	CAG		PASS	0.706	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		5	11	5	11	---	---	---	---
TIGD5	84948	broad.mit.edu	37	8	144681439	144681439	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:144681439G>C	ENST00000504548.2	+	1	1366	c.1366G>C	c.(1366-1368)Gac>Cac	p.D456H	EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000528610.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000423316.2_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.D407H	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	456	DDE 2.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.D407H(1)		NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CATGCTCAAGGACATGCTCTA	0.677																																						uc003yyx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1219-1221)GAC>CAC		tigger transposable element derived 5							23.0	24.0	23.0					8																	144681439		2188	4290	6478	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681439G>C	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1366G>C	8.37:g.144681439G>C	ENSP00000421489:p.Asp456His					EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	p.D407H	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1219	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		456					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1219G>C	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	G	17.53	3.413308	0.62511	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.49432	0.78;0.78	4.3	4.3	0.51218	.	0.000000	0.64402	U	0.000015	T	0.63651	0.2529	L	0.55990	1.75	0.30594	N	0.76122	D	0.89917	1.0	D	0.79784	0.993	T	0.66412	-0.5930	10	0.56958	D	0.05	.	15.7834	0.78281	0.0:0.0:1.0:0.0	.	407	Q53EQ6	TIGD5_HUMAN	H	456;407	ENSP00000421489:D456H;ENSP00000315906:D407H	ENSP00000315906:D407H	D	+	1	0	TIGD5	144752582	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.514000	0.73746	1.926000	0.55796	0.655000	0.94253	GAC		PASS	0.677	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		7	36	7	36	---	---	---	---
TIGD5	84948	broad.mit.edu	37	8	144681815	144681815	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:144681815G>T	ENST00000504548.2	+	1	1742	c.1742G>T	c.(1741-1743)gGa>gTa	p.G581V	EEF1D_ENST00000419152.2_5'Flank|EEF1D_ENST00000524624.1_5'Flank|EEF1D_ENST00000317198.6_5'Flank|EEF1D_ENST00000532400.1_5'Flank|EEF1D_ENST00000395119.3_5'Flank|EEF1D_ENST00000531621.1_5'Flank|EEF1D_ENST00000442189.2_5'Flank|EEF1D_ENST00000526838.1_5'Flank|EEF1D_ENST00000529272.1_5'Flank|EEF1D_ENST00000531770.1_5'Flank|EEF1D_ENST00000528610.1_5'Flank|RP11-661A12.14_ENST00000606452.1_lincRNA|EEF1D_ENST00000423316.2_5'Flank|TIGD5_ENST00000321385.3_Missense_Mutation_p.G532V	NM_032862.4	NP_116251.4	Q53EQ6	TIGD5_HUMAN	tigger transposable element derived 5	581						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.G532V(1)		NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACCGACTATGGAGGGACCTCA	0.716																																						uc003yyx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1594-1596)GGA>GTA		tigger transposable element derived 5							14.0	15.0	14.0					8																	144681815		2174	4279	6453	SO:0001583	missense	84948				regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding	g.chr8:144681815G>T	AK027832	CCDS6406.1, CCDS6406.2	8q24.3	2008-02-01				ENSG00000179886			18336	protein-coding gene	gene with protein product							Standard	NM_032862		Approved	FLJ14926	uc003yyx.2	Q53EQ6		ENST00000504548.2:c.1742G>T	8.37:g.144681815G>T	ENSP00000421489:p.Gly581Val					EEF1D_uc011lki.1_5'Flank|EEF1D_uc011lkj.1_5'Flank|EEF1D_uc003yyr.2_5'Flank|EEF1D_uc003yyt.2_5'Flank|EEF1D_uc011lkk.1_5'Flank|EEF1D_uc003yys.2_5'Flank|EEF1D_uc003yyv.2_5'Flank|EEF1D_uc003yyu.2_5'Flank|EEF1D_uc011lkl.1_5'Flank	p.G532V	NM_032862	NP_116251	Q53EQ6	TIGD5_HUMAN	Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		1	1595	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		581					E7EWS2|Q6NT83|Q8N5A1|Q96JW8	Missense_Mutation	SNP	ENST00000504548.2	37	c.1595G>T	CCDS6406.2	.	.	.	.	.	.	.	.	.	.	G	0.846	-0.740270	0.03088	.	.	ENSG00000179886	ENST00000504548;ENST00000321385	T;T	0.33438	1.41;1.44	2.24	0.284	0.15701	.	.	.	.	.	T	0.18130	0.0435	N	0.24115	0.695	0.09310	N	1	P	0.41313	0.745	B	0.40444	0.329	T	0.14755	-1.0461	9	0.27785	T	0.31	.	5.6273	0.17490	0.315:0.0:0.685:0.0	.	532	Q53EQ6	TIGD5_HUMAN	V	581;532	ENSP00000421489:G581V;ENSP00000315906:G532V	ENSP00000315906:G532V	G	+	2	0	TIGD5	144752958	0.004000	0.15560	0.001000	0.08648	0.003000	0.03518	-0.051000	0.11885	0.057000	0.16193	0.650000	0.86243	GGA		PASS	0.716	TIGD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368269.1	NM_032862		6	40	6	40	---	---	---	---
PLEC	5339	broad.mit.edu	37	8	144996741	144996741	+	Silent	SNP	G	G	A	rs199958797	byFrequency	TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:144996741G>A	ENST00000322810.4	-	31	7936	c.7767C>T	c.(7765-7767)atC>atT	p.I2589I	PLEC_ENST00000354589.3_Silent_p.I2452I|PLEC_ENST00000356346.3_Silent_p.I2438I|PLEC_ENST00000527096.1_Silent_p.I2475I|PLEC_ENST00000354958.2_Silent_p.I2430I|PLEC_ENST00000345136.3_Silent_p.I2452I|PLEC_ENST00000357649.2_Silent_p.I2456I|PLEC_ENST00000436759.2_Silent_p.I2479I|PLEC_ENST00000398774.2_Silent_p.I2420I	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2589	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)	p.I2479I(1)|p.I2452I(1)|p.I2589I(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCAGCTCAGCGATGGCCTCCC	0.642													G|||	3	0.000599042	0.0	0.0	5008	,	,		16611	0.0		0.003	False		,,,				2504	0.0					uc003zaf.1																			3	Substitution - coding silent(3)		lung(3)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(7765-7767)ATC>ATT		plectin isoform 1		G	,,,,,,,	0,4294		0,0,2147	36.0	39.0	38.0		7437,7314,7290,7767,7260,7356,7368,7356	-8.1	0.0	8		38	4,8490		0,4,4243	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	,,,,,,,	0,4,6390	AA,AG,GG		0.0471,0.0,0.0313	,,,,,,,	2479/4575,2438/4534,2430/4526,2589/4685,2420/4516,2452/4548,2456/4552,2452/4548	144996741	4,12784	2147	4247	6394	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144996741G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.7767C>T	8.37:g.144996741G>A						PLEC_uc003zab.1_Silent_p.I2452I|PLEC_uc003zac.1_Silent_p.I2456I|PLEC_uc003zad.2_Silent_p.I2452I|PLEC_uc003zae.1_Silent_p.I2420I|PLEC_uc003zag.1_Silent_p.I2430I|PLEC_uc003zah.2_Silent_p.I2438I|PLEC_uc003zaj.2_Silent_p.I2479I	p.I2589I	NM_201380	NP_958782	Q15149	PLEC_HUMAN			31	7937	-			2589			Central fibrous rod domain.|Potential.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.7767C>T	CCDS43772.1																																																																																				PASS	0.642	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		10	57	10	57	---	---	---	---
PARP10	84875	broad.mit.edu	37	8	145049349	145049349	+	IGR	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:145049349G>A	ENST00000313028.7	-	0	3497				PLEC_ENST00000356346.3_5'Flank|PLEC_ENST00000527096.1_Silent_p.I63I|PLEC_ENST00000436759.2_Silent_p.I63I	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10						negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I63I(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGTTACCTGCGATGCGAATGA	0.687											OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003zaj.2																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9						c.(187-189)ATC>ATT		plectin isoform 1c							52.0	62.0	59.0					8																	145049349		2091	4213	6304	SO:0001628	intergenic_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:145049349G>A	AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7			8.37:g.145049349G>A			OREG0019050	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1691	PLEC_uc003zah.2_5'Flank	p.I63I	NM_000445	NP_000436	Q15149	PLEC_HUMAN			2	238	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q8N2I0|Q8WV05|Q96CH7|Q96K72	Silent	SNP	ENST00000313028.7	37	c.189C>T	CCDS34960.1																																																																																				PASS	0.687	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		35	119	35	119	---	---	---	---
KIFC2	90990	broad.mit.edu	37	8	145693754	145693754	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:145693754G>T	ENST00000301332.2	+	8	1230	c.853G>T	c.(853-855)Gag>Tag	p.E285*	CYHR1_ENST00000403000.2_5'Flank|CYHR1_ENST00000424149.2_5'Flank|CYHR1_ENST00000306145.5_5'Flank|KIFC2_ENST00000301331.5_Nonsense_Mutation_p.E33*	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	285	Gln-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E285*(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCGGCTTCAGGAGGCCCAAGA	0.667																																						uc003zcz.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(853-855)GAG>TAG		kinesin family member C2							21.0	26.0	24.0					8																	145693754		2200	4299	6499	SO:0001587	stop_gained	90990				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr8:145693754G>T	AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.853G>T	8.37:g.145693754G>T	ENSP00000301332:p.Glu285*					CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	p.E285*	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)		8	918	+	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		285			Potential.|Gln-rich.		E9PHB2|Q96NN6	Nonsense_Mutation	SNP	ENST00000301332.2	37	c.853G>T	CCDS6427.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	37|37	5.994974|5.994974	0.97184|0.97184	.|.	.|.	ENSG00000167702|ENSG00000167702	ENST00000301332;ENST00000301331|ENST00000528415	.|.	.|.	.|.	4.13|4.13	4.13|4.13	0.48395|0.48395	.|.	0.000000|.	0.34603|.	N|.	0.003825|.	.|T	.|0.63426	.|0.2510	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70506	.|-0.4853	.|3	0.30854|.	T|.	0.27|.	-17.8777|-17.8777	13.8902|13.8902	0.63733|0.63733	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|V	285;33|105	.|.	ENSP00000301331:E33X|.	E|G	+|+	1|2	0|0	KIFC2|KIFC2	145664562|145664562	0.995000|0.995000	0.38212|0.38212	1.000000|1.000000	0.80357|0.80357	0.987000|0.987000	0.75469|0.75469	3.054000|3.054000	0.49908|0.49908	2.135000|2.135000	0.66039|0.66039	0.491000|0.491000	0.48974|0.48974	GAG|GGA		PASS	0.667	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382052.2	NM_145754		16	88	16	88	---	---	---	---
MFSD3	113655	broad.mit.edu	37	8	145736103	145736103	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr8:145736103G>A	ENST00000301327.4	+	3	1213	c.953G>A	c.(952-954)aGa>aAa	p.R318K	RECQL4_ENST00000532237.1_5'Flank|CTD-2517M22.17_ENST00000580385.1_RNA	NM_138431.1	NP_612440.1	Q96ES6	MFSD3_HUMAN	major facilitator superfamily domain containing 3	318	Leu-rich.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.R318K(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACAATCTTGAGAGGTGAGGGG	0.652																																						uc003zdi.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(952-954)AGA>AAA		major facilitator superfamily domain containing							45.0	52.0	49.0					8																	145736103		2203	4298	6501	SO:0001583	missense	113655				transmembrane transport	integral to membrane		g.chr8:145736103G>A		CCDS6431.1	8q24.3	2005-11-17			ENSG00000167700	ENSG00000167700			25157	protein-coding gene	gene with protein product							Standard	NM_138431		Approved		uc003zdi.1	Q96ES6	OTTHUMG00000165177	ENST00000301327.4:c.953G>A	8.37:g.145736103G>A	ENSP00000301327:p.Arg318Lys						p.R318K	NM_138431	NP_612440	Q96ES6	MFSD3_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	1118	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		318			Leu-rich.			Missense_Mutation	SNP	ENST00000301327.4	37	c.953G>A	CCDS6431.1	.	.	.	.	.	.	.	.	.	.	G	1.738	-0.492401	0.04322	.	.	ENSG00000167700	ENST00000301327	T	0.62232	0.04	5.24	2.0	0.26442	Major facilitator superfamily domain, general substrate transporter (1);	0.455332	0.24330	N	0.039462	T	0.41719	0.1171	L	0.35288	1.05	0.21473	N	0.999674	B	0.02656	0.0	B	0.04013	0.001	T	0.22138	-1.0225	10	0.07175	T	0.84	.	7.2619	0.26207	0.3481:0.0:0.6519:0.0	.	318	Q96ES6	MFSD3_HUMAN	K	318	ENSP00000301327:R318K	ENSP00000301327:R318K	R	+	2	0	MFSD3	145706911	0.988000	0.35896	0.976000	0.42696	0.057000	0.15508	1.199000	0.32235	0.409000	0.25649	-0.367000	0.07326	AGA		PASS	0.652	MFSD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382478.2	NM_138431		21	150	21	150	---	---	---	---
ERMP1	79956	broad.mit.edu	37	9	5833008	5833008	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr9:5833008G>A	ENST00000339450.5	-	1	109	c.20C>T	c.(19-21)tCg>tTg	p.S7L	ERMP1_ENST00000381506.3_5'Flank|ERMP1_ENST00000214893.5_5'Flank	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	7						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)	p.S7L(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CACAGCAGCCGACTCAGAACC	0.756																																						uc003zjm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(19-21)TCG>TTG		aminopeptidase Fxna							5.0	7.0	7.0					9																	5833008		1686	3679	5365	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5833008G>A	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.20C>T	9.37:g.5833008G>A	ENSP00000340427:p.Ser7Leu					ERMP1_uc011lme.1_RNA|ERMP1_uc010mhs.1_5'UTR|ERMP1_uc003zjn.1_Missense_Mutation_p.S7L	p.S7L	NM_024896	NP_079172	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	1	74	-		Acute lymphoblastic leukemia(23;0.158)	7			Cytoplasmic (Potential).		B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.20C>T	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	G	14.26	2.482489	0.44147	.	.	ENSG00000099219	ENST00000339450	T	0.50001	0.76	3.82	3.82	0.43975	.	0.489467	0.15266	N	0.271525	T	0.26340	0.0643	N	0.08118	0	0.80722	D	1	P;P	0.40638	0.725;0.553	B;B	0.32342	0.144;0.08	T	0.32955	-0.9887	10	0.87932	D	0	-1.9303	13.6577	0.62348	0.0:0.0:1.0:0.0	.	7;7	E7ER77;Q7Z2K6	.;ERMP1_HUMAN	L	7	ENSP00000340427:S7L	ENSP00000340427:S7L	S	-	2	0	ERMP1	5823008	1.000000	0.71417	0.990000	0.47175	0.274000	0.26718	4.777000	0.62361	1.973000	0.57446	0.313000	0.20887	TCG		PASS	0.756	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		8	6	8	6	---	---	---	---
FRMD3	257019	broad.mit.edu	37	9	86004554	86004554	+	Missense_Mutation	SNP	A	A	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr9:86004554A>G	ENST00000304195.3	-	2	423	c.217T>C	c.(217-219)Ttt>Ctt	p.F73L	FRMD3_ENST00000376438.1_Missense_Mutation_p.F73L	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	73	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)		p.F73L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CGAATGCCAAAGTAGTCCTTC	0.498																																						uc004ams.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(217-219)TTT>CTT		FERM domain containing 3							126.0	123.0	124.0					9																	86004554		1980	4164	6144	SO:0001583	missense	257019					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding	g.chr9:86004554A>G	AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.217T>C	9.37:g.86004554A>G	ENSP00000303508:p.Phe73Leu					FRMD3_uc004amr.1_Missense_Mutation_p.F59L	p.F73L	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN			2	419	-			73			FERM.		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	ENST00000304195.3	37	c.217T>C	CCDS43840.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.175437	0.78564	.	.	ENSG00000172159	ENST00000376438;ENST00000304195	D;D	0.86230	-2.09;-2.09	5.59	5.59	0.84812	FERM, N-terminal (1);Band 4.1 domain (1);FERM domain (1);	0.000000	0.85682	D	0.000000	D	0.90518	0.7029	M	0.91300	3.195	0.80722	D	1	B;B	0.30511	0.209;0.282	B;B	0.34385	0.181;0.159	D	0.90237	0.4283	10	0.54805	T	0.06	.	14.7363	0.69419	1.0:0.0:0.0:0.0	.	73;73	A2A2Y4;A2A2Y4-2	FRMD3_HUMAN;.	L	73	ENSP00000365621:F73L;ENSP00000303508:F73L	ENSP00000303508:F73L	F	-	1	0	FRMD3	85194374	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.379000	0.90146	2.137000	0.66172	0.533000	0.62120	TTT		PASS	0.498	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157355.1	NM_174938		19	72	19	72	---	---	---	---
RMI1	80010	broad.mit.edu	37	9	86616459	86616459	+	Silent	SNP	C	C	T	rs200445200		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr9:86616459C>T	ENST00000325875.3	+	3	890	c.558C>T	c.(556-558)aaC>aaT	p.N186N		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	186					DNA replication (GO:0006260)|glucose homeostasis (GO:0042593)|multicellular organism growth (GO:0035264)|reduction of food intake in response to dietary excess (GO:0002023)|response to glucose (GO:0009749)	nucleus (GO:0005634)		p.N186N(1)		biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AACCAGAAAACGTGAAAGTGT	0.353																																						uc004anq.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(556-558)AAC>AAT		RMI1, RecQ mediated genome instability 1,							73.0	76.0	75.0					9																	86616459		2203	4300	6503	SO:0001819	synonymous_variant	80010				DNA replication	nucleus		g.chr9:86616459C>T	AK022950	CCDS6669.1	9q22.1	2013-06-10	2013-06-10	2006-06-12	ENSG00000178966	ENSG00000178966			25764	protein-coding gene	gene with protein product	"""BLM-Associated Polypeptide, 75 kDa"""	610404	"""chromosome 9 open reading frame 76"", ""RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae)"""	C9orf76		15775963, 20826341	Standard	NM_024945		Approved	FLJ12888, BLAP75	uc004anq.4	Q9H9A7	OTTHUMG00000020113	ENST00000325875.3:c.558C>T	9.37:g.86616459C>T						RMI1_uc004anr.3_Silent_p.N186N|RMI1_uc004anp.3_Silent_p.N186N|RMI1_uc004ans.3_Silent_p.N186N	p.N186N	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN			3	966	+			186					Q05BX1|Q05CW3|Q5SQG8|Q5SQG9|Q6P1Q4|Q6PI89|Q7Z6L6	Silent	SNP	ENST00000325875.3	37	c.558C>T	CCDS6669.1																																																																																				PASS	0.353	RMI1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052870.1	NM_024945		29	55	29	55	---	---	---	---
GRIN3A	116443	broad.mit.edu	37	9	104357169	104357169	+	Intron	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr9:104357169C>G	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.C15S	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)	p.C15S(1)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AAAGTGGGAGCACATCTCCGC	0.562																																						uc004bbr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(43-45)TGC>TCC		protein phosphatase 3 regulatory subunit B, beta	Cyclosporine(DB00091)						56.0	61.0	59.0					9																	104357169		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104357169C>G		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15527G>C	9.37:g.104357169C>G						GRIN3A_uc004bbp.1_Intron|GRIN3A_uc004bbq.1_Intron|PPP3R2_uc010mtf.1_RNA	p.C15S	NM_147180	NP_671709	Q96LZ3	CANB2_HUMAN			1	115	-		Acute lymphoblastic leukemia(62;0.0527)	12					B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.44G>C	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	C	12.98	2.098968	0.37048	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.28069	1.63	3.84	3.84	0.44239	.	0.167338	0.28996	N	0.013476	T	0.26011	0.0634	L	0.46157	1.445	0.42212	D	0.991812	B	0.13145	0.007	B	0.06405	0.002	T	0.05767	-1.0865	10	0.33141	T	0.24	-16.393	11.5661	0.50807	0.0:1.0:0.0:0.0	.	12	Q96LZ3	CANB2_HUMAN	S	15	ENSP00000363939:C15S	ENSP00000363939:C15S	C	-	2	0	PPP3R2	103396990	0.963000	0.33076	0.951000	0.38953	0.821000	0.46438	2.134000	0.42102	2.444000	0.82710	0.563000	0.77884	TGC		PASS	0.562	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			32	46	32	46	---	---	---	---
KIAA1958	158405	broad.mit.edu	37	9	115421863	115421863	+	Silent	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr9:115421863C>G	ENST00000337530.6	+	4	1961	c.1665C>G	c.(1663-1665)ctC>ctG	p.L555L	KIAA1958_ENST00000536272.1_Silent_p.L583L	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	555								p.L555L(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CTATCACTCTCCTGTCCACTG	0.567																																						uc004bgf.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(1663-1665)CTC>CTG		hypothetical protein LOC158405							76.0	72.0	73.0					9																	115421863		2203	4300	6503	SO:0001819	synonymous_variant	158405							g.chr9:115421863C>G	AB075838	CCDS35108.1, CCDS69642.1	9q33.1	2009-09-22			ENSG00000165185	ENSG00000165185			23427	protein-coding gene	gene with protein product							Standard	NM_001287038		Approved	FLJ39294	uc004bgf.1	Q8N8K9	OTTHUMG00000020508	ENST00000337530.6:c.1665C>G	9.37:g.115421863C>G						KIAA1958_uc011lwx.1_Silent_p.L583L	p.L555L	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN			4	1840	+			555					B7ZKW6|Q2M336|Q5T252|Q8TF43|Q96N02	Silent	SNP	ENST00000337530.6	37	c.1665C>G	CCDS35108.1																																																																																				PASS	0.567	KIAA1958-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053690.1	NM_133465		8	16	8	16	---	---	---	---
FKBP15	23307	broad.mit.edu	37	9	115940912	115940912	+	Nonsense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr9:115940912G>C	ENST00000238256.3	-	20	2201	c.2084C>G	c.(2083-2085)tCa>tGa	p.S695*		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	695					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)		p.S695*(1)|p.S720*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GCACATACCTGAGAGCTTTGC	0.463																																						uc004bgs.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(3)	3						c.(2083-2085)TCA>TGA		FK506 binding protein 15, 133kDa							57.0	53.0	54.0					9																	115940912		1948	4141	6089	SO:0001587	stop_gained	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115940912G>C	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.2084C>G	9.37:g.115940912G>C	ENSP00000238256:p.Ser695*					FKBP15_uc010muu.1_Nonsense_Mutation_p.S759*|FKBP15_uc004bgr.2_Nonsense_Mutation_p.S132*|FKBP15_uc011lxc.1_Nonsense_Mutation_p.S276*|FKBP15_uc011lxd.1_Nonsense_Mutation_p.S627*|FKBP15_uc010mut.1_Nonsense_Mutation_p.S563*	p.S695*	NM_015258	NP_056073	Q5T1M5	FKB15_HUMAN			20	2202	-			695			Potential.		Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Nonsense_Mutation	SNP	ENST00000238256.3	37	c.2084C>G	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	.	33	5.228502	0.95173	.	.	ENSG00000119321	ENST00000446284;ENST00000238256	.	.	.	5.78	3.93	0.45458	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-20.8199	8.326	0.32158	0.2432:0.0:0.7568:0.0	.	.	.	.	X	720;695	.	ENSP00000238256:S695X	S	-	2	0	FKBP15	114980733	0.966000	0.33281	0.998000	0.56505	0.152000	0.21847	2.050000	0.41297	0.769000	0.33313	-0.145000	0.13849	TCA		PASS	0.463	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		4	7	4	7	---	---	---	---
QRFP	347148	broad.mit.edu	37	9	133768899	133768899	+	Missense_Mutation	SNP	G	G	T	rs376613837		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr9:133768899G>T	ENST00000343079.1	-	1	326	c.327C>A	c.(325-327)agC>agA	p.S109R		NM_198180.1	NP_937823.1			pyroglutamylated RFamide peptide									p.S109R(1)		cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		CTAACGGGCCGCTGGTCTTCT	0.647																																						uc011mcb.1																			1	Substitution - Missense(1)		lung(1)		0						c.(325-327)AGC>AGA		RF(Arg-Phe)amide family 26 amino acid peptide							54.0	61.0	59.0					9																	133768899		2203	4300	6503	SO:0001583	missense	347148				locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding	g.chr9:133768899G>T	AB109625	CCDS6936.1	9q34.12	2013-02-28			ENSG00000188710	ENSG00000188710		"""Endogenous ligands"""	29982	protein-coding gene	gene with protein product	"""prepro-QRFP"""	609795				12714592, 15808908	Standard	NM_198180		Approved	26RFa, P518	uc011mcb.2	P83859	OTTHUMG00000131663	ENST00000343079.1:c.327C>A	9.37:g.133768899G>T	ENSP00000345487:p.Ser109Arg						p.S109R	NM_198180	NP_937823	P83859	OX26_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)	1	327	-	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)	109						Missense_Mutation	SNP	ENST00000343079.1	37	c.327C>A	CCDS6936.1	.	.	.	.	.	.	.	.	.	.	g	15.35	2.806275	0.50421	.	.	ENSG00000188710	ENST00000343079	T	0.52754	0.65	4.54	-8.43	0.00953	.	1.044460	0.07571	N	0.918592	T	0.46852	0.1414	M	0.63843	1.955	0.09310	N	1	P	0.50272	0.933	P	0.52267	0.694	T	0.52540	-0.8562	10	0.54805	T	0.06	0.0821	5.4771	0.16702	0.25:0.0889:0.5719:0.0891	.	109	P83859	OX26_HUMAN	R	109	ENSP00000345487:S109R	ENSP00000345487:S109R	S	-	3	2	QRFP	132758720	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-3.444000	0.00469	-1.653000	0.01500	-1.402000	0.01139	AGC		PASS	0.647	QRFP-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254566.1	NM_198180		48	58	48	58	---	---	---	---
GFI1B	8328	broad.mit.edu	37	9	135866411	135866411	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr9:135866411C>T	ENST00000339463.3	+	11	1786	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	GFI1B_ENST00000372122.1_Missense_Mutation_p.R323C|GFI1B_ENST00000372124.1_Missense_Mutation_p.R277C|GFI1B_ENST00000372123.1_Missense_Mutation_p.R277C|GFI1B_ENST00000450530.1_Missense_Mutation_p.R323C|GFI1B_ENST00000534944.1_Missense_Mutation_p.R277C			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	323	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)	p.R323C(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		GCGGCGGCACCGCGAGAGCCA	0.652																																						uc004ccg.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(967-969)CGC>TGC		growth factor independent 1B transcription							72.0	62.0	66.0					9																	135866411		2203	4300	6503	SO:0001583	missense	8328				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	g.chr9:135866411C>T	AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.967C>T	9.37:g.135866411C>T	ENSP00000344782:p.Arg323Cys					GFI1B_uc010mzy.2_Missense_Mutation_p.R277C	p.R323C	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)	7	1118	+			323			C2H2-type 6.|Mediates interaction with GATA1.|Interaction with ARIH2.		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	ENST00000339463.3	37	c.967C>T	CCDS6957.1	.	.	.	.	.	.	.	.	.	.	C	28.9	4.957359	0.92726	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.36878	1.23;2.95;2.95;1.23;1.23;2.95	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.070094	0.64402	D	0.000015	T	0.52108	0.1714	L	0.41906	1.305	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71870	0.975;0.973	T	0.54846	-0.8232	10	0.87932	D	0	-35.0934	17.6439	0.88144	0.0:1.0:0.0:0.0	.	277;323	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	C	277;323;323;277;277;323	ENSP00000361197:R277C;ENSP00000344782:R323C;ENSP00000409546:R323C;ENSP00000446134:R277C;ENSP00000361196:R277C;ENSP00000361195:R323C	ENSP00000344782:R323C	R	+	1	0	GFI1B	134856232	1.000000	0.71417	0.996000	0.52242	0.946000	0.59487	3.190000	0.50973	2.482000	0.83794	0.462000	0.41574	CGC		PASS	0.652	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393840.1	NM_004188		17	23	17	23	---	---	---	---
ABCA2	20	broad.mit.edu	37	9	139909531	139909531	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr9:139909531C>A	ENST00000371605.3	-	24	3860	c.3713G>T	c.(3712-3714)aGc>aTc	p.S1238I	ABCA2_ENST00000341511.6_Missense_Mutation_p.S1239I|ABCA2_ENST00000265662.5_Missense_Mutation_p.S1239I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1238					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)	p.S1239I(1)		central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ACCTGGGGGGCTGGATGCCAG	0.652																																						uc011mem.1																			1	Substitution - Missense(1)		lung(1)		0						c.(3712-3714)AGC>ATC		ATP-binding cassette, sub-family A, member 2							26.0	33.0	31.0					9																	139909531		1916	4106	6022	SO:0001583	missense	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139909531C>A	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.3713G>T	9.37:g.139909531C>A	ENSP00000360666:p.Ser1238Ile					ABCA2_uc011mel.1_Missense_Mutation_p.S1239I|ABCA2_uc004ckl.1_Missense_Mutation_p.S1169I|ABCA2_uc004ckm.1_Missense_Mutation_p.S1269I|ABCA2_uc004ckn.1_RNA	p.S1238I	NM_001606	NP_001597	Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	24	3861	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1238					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Missense_Mutation	SNP	ENST00000371605.3	37	c.3713G>T		.	.	.	.	.	.	.	.	.	.	c	9.977	1.227009	0.22542	.	.	ENSG00000107331	ENST00000265662;ENST00000371605;ENST00000355090;ENST00000341511	D;D;D	0.88046	-2.33;-2.33;-2.33	4.35	4.35	0.52113	.	1932.380000	0.00780	U	0.001264	D	0.86393	0.5922	L	0.53249	1.67	0.32136	N	0.586108	B;P	0.38922	0.346;0.651	B;B	0.30251	0.113;0.113	T	0.77330	-0.2628	10	0.52906	T	0.07	.	16.496	0.84246	0.0:1.0:0.0:0.0	.	1238;1269	Q9BZC7;E7ETC3	ABCA2_HUMAN;.	I	1239;1238;1269;1239	ENSP00000265662:S1239I;ENSP00000360666:S1238I;ENSP00000344155:S1239I	ENSP00000265662:S1239I	S	-	2	0	ABCA2	139029352	1.000000	0.71417	0.998000	0.56505	0.111000	0.19643	2.833000	0.48159	1.994000	0.58287	0.298000	0.19748	AGC		PASS	0.652	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		17	91	17	91	---	---	---	---
TUBB8	347688	broad.mit.edu	37	10	93743	93743	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:93743C>G	ENST00000309812.4	-	4	651	c.589G>C	c.(589-591)Gat>Cat	p.D197H	TUBB8_ENST00000413237.3_5'UTR|TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000447903.2_Missense_Mutation_p.D125H	NM_177987.2	NP_817124.1	Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	197					microtubule-based process (GO:0007017)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)	p.D197H(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		AAGGTCTCATCTGCGTTTTCT	0.522																																					Pancreas(192;2041 3010 9013 18103)	uc001ifi.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(589-591)GAT>CAT		tubulin, beta 8 isoform 1							110.0	101.0	104.0					10																	93743		2203	4298	6501	SO:0001583	missense	347688				microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr10:93743C>G	AF355127	CCDS7051.1	10p15.3	2014-05-06			ENSG00000173876			"""Tubulins"""	20773	protein-coding gene	gene with protein product	"""class VIII beta-tubulin"""						Standard	NM_177987		Approved	bA631M21.2	uc001ifi.2	Q3ZCM7	OTTHUMG00000174803	ENST00000309812.4:c.589G>C	10.37:g.93743C>G	ENSP00000311042:p.Asp197His					TUBB8_uc009xhe.2_Missense_Mutation_p.D160H|TUBB8_uc010pzs.1_Missense_Mutation_p.D125H	p.D197H	NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)	4	589	-		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)	197					Q5SQX9|Q8WZ78	Missense_Mutation	SNP	ENST00000309812.4	37	c.589G>C	CCDS7051.1	.	.	.	.	.	.	.	.	.	.	C	10.06	1.247776	0.22880	.	.	ENSG00000173876	ENST00000447903;ENST00000272035;ENST00000440680;ENST00000328974	D	0.81739	-1.53	.	.	.	Tubulin/FtsZ, GTPase domain (4);	0.000000	0.64402	U	0.000007	D	0.89629	0.6770	M	0.93420	3.415	0.38791	D	0.954972	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87253	0.2274	9	0.87932	D	0	.	5.9051	0.18992	0.0:0.9992:0.0:8.0E-4	.	160;197	C9JAA5;Q3ZCM7	.;TBB8_HUMAN	H	125;163;160;197	ENSP00000403895:D125H	ENSP00000272035:D163H	D	-	1	0	RP11-631M21.2	83743	1.000000	0.71417	0.098000	0.21074	0.099000	0.18886	5.268000	0.65536	0.119000	0.18210	0.121000	0.15741	GAT		PASS	0.522	TUBB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467795.1	NM_177987		71	159	71	159	---	---	---	---
ZMYND11	10771	broad.mit.edu	37	10	282786	282786	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:282786G>C	ENST00000397962.3	+	5	875	c.447G>C	c.(445-447)aaG>aaC	p.K149N	ZMYND11_ENST00000309776.4_Missense_Mutation_p.K109N|ZMYND11_ENST00000381607.4_Missense_Mutation_p.K55N|ZMYND11_ENST00000381584.1_Missense_Mutation_p.K132N|ZMYND11_ENST00000403354.1_Missense_Mutation_p.K95N|ZMYND11_ENST00000381591.1_Missense_Mutation_p.K149N|ZMYND11_ENST00000402736.1_Missense_Mutation_p.K149N|ZMYND11_ENST00000535374.1_5'UTR|ZMYND11_ENST00000381604.4_Missense_Mutation_p.K109N|ZMYND11_ENST00000381602.4_Missense_Mutation_p.K109N|ZMYND11_ENST00000545619.1_Missense_Mutation_p.K55N|ZMYND11_ENST00000558098.2_Missense_Mutation_p.K149N|ZMYND11_ENST00000397959.3_Missense_Mutation_p.K95N|ZMYND11_ENST00000509513.2_Missense_Mutation_p.K149N|ZMYND11_ENST00000602682.1_Missense_Mutation_p.K95N			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	149					cell cycle (GO:0007049)|cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription elongation from RNA polymerase II promoter (GO:0034243)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.K149N(2)|p.K109N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGAGCATTAAGAAGAAGAATA	0.338																																						uc010pzt.1																			3	Substitution - Missense(3)		lung(3)		0						c.(445-447)AAG>AAC		zinc finger, MYND domain containing 11 isoform							56.0	53.0	54.0					10																	282786		2203	4300	6503	SO:0001583	missense	10771				cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:282786G>C	X86098	CCDS7052.1, CCDS7053.1, CCDS7052.2, CCDS55696.1, CCDS55697.1, CCDS7053.2, CCDS73060.1, CCDS73061.1	10p14	2011-01-26	2011-01-26		ENSG00000015171	ENSG00000015171		"""Zinc fingers, MYND-type"""	16966	protein-coding gene	gene with protein product		608668	"""zinc finger, MYND domain containing 11"""			7621829, 10734313	Standard	NM_006624		Approved	BS69	uc010pzx.2	Q15326	OTTHUMG00000017526	ENST00000397962.3:c.447G>C	10.37:g.282786G>C	ENSP00000381053:p.Lys149Asn					ZMYND11_uc001ifk.2_Missense_Mutation_p.K149N|ZMYND11_uc010pzu.1_Missense_Mutation_p.K149N|ZMYND11_uc010pzv.1_Missense_Mutation_p.K95N|ZMYND11_uc010pzw.1_Missense_Mutation_p.K95N|ZMYND11_uc001ifm.2_Missense_Mutation_p.K95N|ZMYND11_uc010pzx.1_Missense_Mutation_p.K149N|ZMYND11_uc001ifn.2_Missense_Mutation_p.K95N|ZMYND11_uc009xhg.2_Missense_Mutation_p.K132N|ZMYND11_uc009xhh.2_Missense_Mutation_p.K49N|ZMYND11_uc010pzy.1_Missense_Mutation_p.K49N	p.K149N	NM_006624	NP_006615	Q15326	ZMY11_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)	5	875	+		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	109					B2R6G8|B7Z293|F6UH50|Q2LD45|Q2LD46|Q2LD47|Q2LD48|Q5VUI1|Q8N4B3	Missense_Mutation	SNP	ENST00000397962.3	37	c.447G>C	CCDS7052.2	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995108	0.54041	.	.	ENSG00000015171	ENST00000439456;ENST00000397962;ENST00000309776;ENST00000381602;ENST00000509513;ENST00000397959;ENST00000381591;ENST00000403354;ENST00000381607;ENST00000402736;ENST00000381604;ENST00000397955;ENST00000381584;ENST00000545619	T;T;T;T;T;T;T;D;T	0.88046	2.16;2.16;2.16;2.16;2.16;2.16;2.16;-2.33;2.16	5.16	2.31	0.28768	Zinc finger, RING/FYVE/PHD-type (1);Bromodomain (1);Zinc finger, FYVE/PHD-type (1);	0.093696	0.64402	D	0.000001	D	0.88819	0.6540	L	0.52759	1.655	0.42417	D	0.992627	D;P;P;P;D;D;D;P;P;D	0.58970	0.984;0.938;0.895;0.801;0.984;0.981;0.984;0.956;0.956;0.984	P;B;P;B;P;D;P;B;P;P	0.69824	0.724;0.428;0.452;0.258;0.724;0.966;0.724;0.444;0.549;0.724	D	0.86792	0.1986	9	0.21014	T	0.42	-29.9658	9.5915	0.39548	0.2772:0.0:0.7228:0.0	.	109;149;95;95;149;95;109;95;95;149	Q15326;Q2LD45;B7Z293;B7Z2J6;Q2LD48;B0QZE2;B0QZE3;Q2LD46;Q2LD47;E7ENI9	ZMY11_HUMAN;.;.;.;.;.;.;.;.;.	N	95;149;109;109;149;95;149;95;55;149;109;164;132;55	ENSP00000381053:K149N;ENSP00000309992:K109N;ENSP00000371015:K109N;ENSP00000424205:K149N;ENSP00000371003:K149N;ENSP00000386010:K149N;ENSP00000371017:K109N;ENSP00000381046:K164N;ENSP00000370996:K132N	ENSP00000309992:K109N	K	+	3	2	ZMYND11	272786	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.638000	0.54332	0.286000	0.22352	-0.140000	0.14226	AAG		PASS	0.338	ZMYND11-206	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046382.4	NM_006624		8	48	8	48	---	---	---	---
IDI2	91734	broad.mit.edu	37	10	1065705	1065705	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:1065705C>G	ENST00000277517.1	-	5	500	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI2-AS1_ENST00000434470.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|GTPBP4_ENST00000360803.4_3'UTR	NM_033261.2	NP_150286.1	Q9BXS1	IDI2_HUMAN	isopentenyl-diphosphate delta isomerase 2	146	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.				cholesterol biosynthetic process (GO:0006695)|dimethylallyl diphosphate biosynthetic process (GO:0050992)|isopentenyl diphosphate metabolic process (GO:0046490)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|isopentenyl-diphosphate delta-isomerase activity (GO:0004452)|metal ion binding (GO:0046872)	p.E146Q(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		ATTTCATGCTCTCCCCAAATT	0.438																																						uc001ifv.1																			1	Substitution - Missense(1)		lung(1)		0						c.(436-438)GAG>CAG		isopentenyl-diphosphate delta isomerase 2							142.0	123.0	129.0					10																	1065705		2203	4300	6503	SO:0001583	missense	91734				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	g.chr10:1065705C>G	AF271725	CCDS7055.1	10p15.3	2003-11-19			ENSG00000148377	ENSG00000148377			23487	protein-coding gene	gene with protein product		615389				12477932	Standard	NM_033261		Approved	IPPI2	uc001ifv.1	Q9BXS1	OTTHUMG00000017537	ENST00000277517.1:c.436G>C	10.37:g.1065705C>G	ENSP00000277517:p.Glu146Gln					C10orf110_uc010qaf.1_5'Flank|C10orf110_uc001ifx.3_5'Flank|C10orf110_uc001ifw.3_5'Flank|C10orf110_uc001ify.3_5'Flank	p.E146Q	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)	5	501	-		Colorectal(49;0.235)	146			Nudix hydrolase.	Magnesium (By similarity).		Missense_Mutation	SNP	ENST00000277517.1	37	c.436G>C	CCDS7055.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502902	0.64298	.	.	ENSG00000148377	ENST00000277517	T	0.08984	3.03	3.55	1.65	0.23941	NUDIX hydrolase domain (3);NUDIX hydrolase domain-like (1);	0.052348	0.85682	U	0.000000	T	0.33089	0.0851	H	0.94698	3.57	0.58432	D	0.999999	D	0.89917	1.0	D	0.80764	0.994	T	0.08513	-1.0718	10	0.87932	D	0	-12.4082	7.1224	0.25453	0.0:0.7312:0.1726:0.0962	.	146	Q9BXS1	IDI2_HUMAN	Q	146	ENSP00000277517:E146Q	ENSP00000277517:E146Q	E	-	1	0	IDI2	1055705	0.993000	0.37304	0.159000	0.22649	0.392000	0.30506	2.248000	0.43160	0.318000	0.23185	-1.206000	0.01644	GAG		PASS	0.438	IDI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046411.1	NM_033261		29	74	29	74	---	---	---	---
FAM171A1	221061	broad.mit.edu	37	10	15255181	15255181	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:15255181C>A	ENST00000378116.4	-	8	2412	c.2406G>T	c.(2404-2406)ggG>ggT	p.G802G	FAM171A1_ENST00000477161.1_5'Flank	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	802						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.G802G(2)		breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						AGACCGTGGTCCCACATTCGC	0.622																																						uc001iob.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)|skin(1)	4						c.(2404-2406)GGG>GGT		hypothetical protein LOC221061 precursor							64.0	54.0	57.0					10																	15255181		2203	4300	6503	SO:0001819	synonymous_variant	221061					integral to membrane		g.chr10:15255181C>A	AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.2406G>T	10.37:g.15255181C>A							p.G802G	NM_001010924	NP_001010924	Q5VUB5	F1711_HUMAN			8	2413	-			802			Cytoplasmic (Potential).		D3DRT9|Q32M49|Q8N4I0	Silent	SNP	ENST00000378116.4	37	c.2406G>T	CCDS31154.1																																																																																				PASS	0.622	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046984.1	XM_167709		22	37	22	37	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17024625	17024625	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:17024625C>A	ENST00000377833.4	-	31	4618	c.4553G>T	c.(4552-4554)aGt>aTt	p.S1518I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1518	CUB 10. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S1518I(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATCTCTCCACTGGGAGCCTG	0.443																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(4552-4554)AGT>ATT		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						76.0	65.0	68.0					10																	17024625		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17024625C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4553G>T	10.37:g.17024625C>A	ENSP00000367064:p.Ser1518Ile						p.S1518I	NM_001081	NP_001072	O60494	CUBN_HUMAN			31	4605	-			1518			CUB 10.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.4553G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045735	0.55110	.	.	ENSG00000107611	ENST00000377833;ENST00000438254	T;T	0.19938	2.11;2.11	5.39	-1.31	0.09230	CUB (5);	1.028390	0.07731	N	0.945242	T	0.48696	0.1514	M	0.88979	2.995	0.09310	N	1	D	0.61080	0.989	D	0.63192	0.912	T	0.49011	-0.8983	10	0.72032	D	0.01	.	11.8377	0.52336	0.0:0.5537:0.0:0.4463	.	1518	O60494	CUBN_HUMAN	I	1518;40	ENSP00000367064:S1518I;ENSP00000391830:S40I	ENSP00000367064:S1518I	S	-	2	0	CUBN	17064631	0.297000	0.24408	0.962000	0.40283	0.866000	0.49608	0.343000	0.19944	-0.469000	0.06911	-0.768000	0.03414	AGT		PASS	0.443	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		19	38	19	38	---	---	---	---
ANKRD30A	91074	broad.mit.edu	37	10	37508275	37508275	+	Missense_Mutation	SNP	T	T	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:37508275T>A	ENST00000602533.1	+	34	3566	c.3467T>A	c.(3466-3468)aTt>aAt	p.I1156N	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.I1156N|ANKRD30A_ENST00000374660.1_Missense_Mutation_p.I1275N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1212					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I1156N(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATGATCAAATTGTGACATCA	0.363																																						uc001iza.1																			1	Substitution - Missense(1)		lung(1)	ovary(7)|breast(1)|skin(1)	9						c.(3466-3468)ATT>AAT		ankyrin repeat domain 30A							67.0	64.0	65.0					10																	37508275		1884	4103	5987	SO:0001583	missense	91074					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:37508275T>A	AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.3467T>A	10.37:g.37508275T>A	ENSP00000473551:p.Ile1156Asn						p.I1156N	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN			34	3566	+			1212					Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37	c.3467T>A		.	.	.	.	.	.	.	.	.	.	t	0.019	-1.456234	0.01071	.	.	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.13778	2.56;2.56	2.85	-1.57	0.08506	.	.	.	.	.	T	0.06188	0.0160	N	0.12182	0.205	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.35201	-0.9798	9	0.41790	T	0.15	.	3.4173	0.07380	0.4769:0.0:0.3355:0.1877	.	1212	Q9BXX3	AN30A_HUMAN	N	1156;1275	ENSP00000354432:I1156N;ENSP00000363792:I1275N	ENSP00000354432:I1156N	I	+	2	0	ANKRD30A	37548281	0.997000	0.39634	0.000000	0.03702	0.000000	0.00434	1.378000	0.34328	-0.737000	0.04824	-1.841000	0.00585	ATT		PASS	0.363	ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997		17	64	17	64	---	---	---	---
ZNF37A	7587	broad.mit.edu	37	10	38407496	38407496	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:38407496G>T	ENST00000361085.5	+	7	1762	c.1417G>T	c.(1417-1419)Ggg>Tgg	p.G473W	ZNF37A_ENST00000351773.3_Missense_Mutation_p.G473W	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A	473					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G473W(2)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TAATGAATGTGGGAAAACCTT	0.398																																						uc001izk.2																			2	Substitution - Missense(2)		lung(2)	breast(1)	1						c.(1417-1419)GGG>TGG		zinc finger protein 37a							56.0	58.0	57.0					10																	38407496		2203	4300	6503	SO:0001583	missense	7587					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr10:38407496G>T	X69115	CCDS31183.1	10p11.2	2013-01-08	2006-05-11		ENSG00000075407	ENSG00000075407		"""Zinc fingers, C2H2-type"", ""-"""	13102	protein-coding gene	gene with protein product			"""zinc finger protein 37a (KOX 21)"""			2014798, 8464732	Standard	NM_001178101		Approved	KOX21, ZNF37	uc001izl.3	P17032	OTTHUMG00000017990	ENST00000361085.5:c.1417G>T	10.37:g.38407496G>T	ENSP00000354377:p.Gly473Trp					ZNF37A_uc001izl.2_Missense_Mutation_p.G473W|ZNF37A_uc001izm.2_Missense_Mutation_p.G473W	p.G473W	NM_001007094	NP_001007095	P17032	ZN37A_HUMAN			8	2236	+			473			C2H2-type 10.		B3KRQ3|D3DRZ3|Q96B88	Missense_Mutation	SNP	ENST00000361085.5	37	c.1417G>T	CCDS31183.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.898623	0.52227	.	.	ENSG00000075407	ENST00000351773;ENST00000361085	T;T	0.22336	1.96;1.96	2.22	2.22	0.28083	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.55737	0.1939	H	0.96208	3.785	0.33448	D	0.583257	D	0.89917	1.0	D	0.80764	0.994	T	0.72246	-0.4349	9	0.87932	D	0	.	10.0958	0.42475	0.0:0.0:1.0:0.0	.	473	P17032	ZN37A_HUMAN	W	473	ENSP00000329141:G473W;ENSP00000354377:G473W	ENSP00000329141:G473W	G	+	1	0	ZNF37A	38447502	1.000000	0.71417	0.998000	0.56505	0.988000	0.76386	3.616000	0.54174	1.246000	0.43901	0.591000	0.81541	GGG		PASS	0.398	ZNF37A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047624.2	NM_003421		17	51	17	51	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55591249	55591249	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:55591249G>T	ENST00000320301.6	-	30	4422	c.4028C>A	c.(4027-4029)cCg>cAg	p.P1343Q	PCDH15_ENST00000437009.1_Missense_Mutation_p.P1272Q|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Missense_Mutation_p.P1348Q|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P1306Q|PCDH15_ENST00000395430.1_Missense_Mutation_p.P1343Q|PCDH15_ENST00000409834.1_Missense_Mutation_p.P954Q|PCDH15_ENST00000395433.1_Missense_Mutation_p.P1321Q|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Missense_Mutation_p.P1343Q|PCDH15_ENST00000395445.1_Missense_Mutation_p.P1350Q|PCDH15_ENST00000395438.1_Missense_Mutation_p.P1343Q|PCDH15_ENST00000373965.2_Missense_Mutation_p.P1350Q	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1343					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.P1343Q(2)|p.P1348Q(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCCATAATACGGCTGAAAGTC	0.398										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Missense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(4027-4029)CCG>CAG		protocadherin 15 isoform CD1-4 precursor							108.0	100.0	103.0					10																	55591249		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55591249G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4028C>A	10.37:g.55591249G>T	ENSP00000322604:p.Pro1343Gln	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Missense_Mutation_p.P1348Q|PCDH15_uc010qhr.1_Missense_Mutation_p.P1343Q|PCDH15_uc010qhs.1_Missense_Mutation_p.P1355Q|PCDH15_uc010qht.1_Missense_Mutation_p.P1350Q|PCDH15_uc010qhu.1_Missense_Mutation_p.P1343Q|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Missense_Mutation_p.P1343Q|PCDH15_uc010qhw.1_Missense_Mutation_p.P1306Q|PCDH15_uc010qhx.1_Missense_Mutation_p.P1272Q|PCDH15_uc010qhy.1_Missense_Mutation_p.P1348Q|PCDH15_uc010qhz.1_Missense_Mutation_p.P1343Q|PCDH15_uc010qia.1_Missense_Mutation_p.P1321Q|PCDH15_uc010qib.1_Missense_Mutation_p.P1321Q	p.P1343Q	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			30	4423	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1343			Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4028C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	18.47	3.630856	0.67015	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.58060	0.5;0.55;0.47;0.48;0.45;0.4;0.36;0.43;0.36;0.38;0.36	5.75	5.75	0.90469	.	.	.	.	.	T	0.62514	0.2434	L	0.34521	1.04	0.54753	D	0.999982	D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.998;1.0;1.0;1.0;1.0;1.0;0.998;0.999;0.999;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D	0.81914	0.983;0.992;0.992;0.989;0.995;0.992;0.983;0.98;0.989;0.989;0.98;0.98;0.992	T	0.64533	-0.6385	9	0.87932	D	0	.	14.3927	0.66991	0.0:0.0:0.8522:0.1478	.	1321;1343;1343;1348;1272;1306;1343;1343;1350;1350;1343;1348;1343	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	Q	1350;1348;1343;1343;954;1350;1306;1343;1321;1343;1343;1348;1272	ENSP00000363076:P1350Q;ENSP00000410304:P1348Q;ENSP00000378826:P1343Q;ENSP00000386693:P954Q;ENSP00000378832:P1350Q;ENSP00000378820:P1306Q;ENSP00000354950:P1343Q;ENSP00000378821:P1321Q;ENSP00000322604:P1343Q;ENSP00000378818:P1343Q;ENSP00000412628:P1272Q	ENSP00000322604:P1343Q	P	-	2	0	PCDH15	55261255	1.000000	0.71417	0.962000	0.40283	0.538000	0.34931	6.630000	0.74272	2.709000	0.92574	0.585000	0.79938	CCG		PASS	0.398	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		12	67	12	67	---	---	---	---
PCDH15	65217	broad.mit.edu	37	10	55600180	55600180	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:55600180C>A	ENST00000320301.6	-	29	4277	c.3883G>T	c.(3883-3885)Gga>Tga	p.G1295*	PCDH15_ENST00000437009.1_Nonsense_Mutation_p.G1224*|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000414778.1_Nonsense_Mutation_p.G1300*|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395432.2_Nonsense_Mutation_p.G1258*|PCDH15_ENST00000395430.1_Nonsense_Mutation_p.G1295*|PCDH15_ENST00000409834.1_Nonsense_Mutation_p.G906*|PCDH15_ENST00000395433.1_Nonsense_Mutation_p.G1273*|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000361849.3_Nonsense_Mutation_p.G1295*|PCDH15_ENST00000395445.1_Nonsense_Mutation_p.G1302*|PCDH15_ENST00000395438.1_Nonsense_Mutation_p.G1295*|PCDH15_ENST00000373965.2_Nonsense_Mutation_p.G1302*	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1295					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)	p.G1295*(2)|p.G1300*(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AAGGCATCTCCATGCCGGCGA	0.438										HNSCC(58;0.16)																												uc001jju.1																			4	Substitution - Nonsense(4)		lung(4)	pancreas(5)|ovary(4)|upper_aerodigestive_tract(2)|skin(2)	13						c.(3883-3885)GGA>TGA		protocadherin 15 isoform CD1-4 precursor							129.0	118.0	122.0					10																	55600180		2203	4300	6503	SO:0001587	stop_gained	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55600180C>A	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.3883G>T	10.37:g.55600180C>A	ENSP00000322604:p.Gly1295*	HNSCC(58;0.16)				PCDH15_uc010qhq.1_Nonsense_Mutation_p.G1300*|PCDH15_uc010qhr.1_Nonsense_Mutation_p.G1295*|PCDH15_uc010qhs.1_Nonsense_Mutation_p.G1307*|PCDH15_uc010qht.1_Nonsense_Mutation_p.G1302*|PCDH15_uc010qhu.1_Nonsense_Mutation_p.G1295*|PCDH15_uc001jjv.1_Intron|PCDH15_uc010qhv.1_Nonsense_Mutation_p.G1295*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.G1258*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.G1224*|PCDH15_uc010qhy.1_Nonsense_Mutation_p.G1300*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.G1295*|PCDH15_uc010qia.1_Nonsense_Mutation_p.G1273*|PCDH15_uc010qib.1_Nonsense_Mutation_p.G1273*	p.G1295*	NM_033056	NP_149045	Q96QU1	PCD15_HUMAN			29	4278	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1295			Extracellular (Potential).		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Nonsense_Mutation	SNP	ENST00000320301.6	37	c.3883G>T	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	C	47	13.121614	0.99721	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	19.1946	0.93682	0.0:1.0:0.0:0.0	.	.	.	.	X	1302;1300;1295;1295;906;1302;1258;1295;1273;1295;1295;1300;1224	.	ENSP00000322604:G1295X	G	-	1	0	PCDH15	55270186	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.765000	0.85310	2.703000	0.92315	0.579000	0.79373	GGA		PASS	0.438	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		28	74	28	74	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68526066	68526066	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:68526066C>G	ENST00000433211.2	-	9	1411	c.1237G>C	c.(1237-1239)Gaa>Caa	p.E413Q	CTNNA3_ENST00000373744.4_Missense_Mutation_p.E413Q	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.E413Q(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GCAGCATATTCTTTTATTTCC	0.433																																						uc009xpn.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1237-1239)GAA>CAA		catenin, alpha 3							201.0	187.0	191.0					10																	68526066		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68526066C>G	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1237G>C	10.37:g.68526066C>G	ENSP00000389714:p.Glu413Gln					CTNNA3_uc001jmw.2_Missense_Mutation_p.E413Q|CTNNA3_uc001jmx.3_Missense_Mutation_p.E413Q	p.E413Q	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			9	1360	-			413						Missense_Mutation	SNP	ENST00000433211.2	37	c.1237G>C	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787699	0.70337	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.48836	0.8;0.8	6.17	6.17	0.99709	.	0.096661	0.44902	D	0.000412	T	0.59418	0.2192	M	0.80028	2.48	0.80722	D	1	B;B	0.26258	0.042;0.145	B;B	0.35114	0.08;0.196	T	0.57370	-0.7823	10	0.52906	T	0.07	-17.5167	18.3732	0.90420	0.0:1.0:0.0:0.0	.	413;413	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	Q	413	ENSP00000389714:E413Q;ENSP00000362849:E413Q	ENSP00000362849:E413Q	E	-	1	0	CTNNA3	68196072	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.433	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		50	129	50	129	---	---	---	---
COL13A1	1305	broad.mit.edu	37	10	71664711	71664711	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:71664711C>A	ENST00000398978.3	+	16	1403	c.911C>A	c.(910-912)cCa>cAa	p.P304Q	COL13A1_ENST00000356340.3_Missense_Mutation_p.P304Q|COL13A1_ENST00000354547.3_Missense_Mutation_p.P282Q|COL13A1_ENST00000398973.3_Missense_Mutation_p.P304Q|COL13A1_ENST00000398968.3_Missense_Mutation_p.P285Q|COL13A1_ENST00000398969.3_Missense_Mutation_p.P247Q|COL13A1_ENST00000357811.3_Missense_Mutation_p.P282Q|COL13A1_ENST00000398964.3_Missense_Mutation_p.P275Q|COL13A1_ENST00000522165.1_Missense_Mutation_p.P285Q|COL13A1_ENST00000398972.3_Missense_Mutation_p.P304Q|COL13A1_ENST00000517713.1_Missense_Mutation_p.P282Q|COL13A1_ENST00000398971.3_Missense_Mutation_p.P304Q|COL13A1_ENST00000520133.1_Missense_Mutation_p.P253Q|COL13A1_ENST00000398974.3_Missense_Mutation_p.P292Q|COL13A1_ENST00000398966.3_Missense_Mutation_p.P282Q|COL13A1_ENST00000520267.1_Missense_Mutation_p.P247Q	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1									p.P304Q(1)|p.P287Q(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CCTCCTGGACCAAAGGTGAGT	0.502																																						uc001jpr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(910-912)CCA>CAA		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						53.0	51.0	52.0					10																	71664711		1918	4118	6036	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71664711C>A	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.911C>A	10.37:g.71664711C>A	ENSP00000381949:p.Pro304Gln					COL13A1_uc001jqj.1_Missense_Mutation_p.P304Q|COL13A1_uc001jps.1_Missense_Mutation_p.P275Q|COL13A1_uc001jpt.1_Missense_Mutation_p.P263Q|COL13A1_uc001jpu.1_Missense_Mutation_p.P285Q|COL13A1_uc001jpv.1_Missense_Mutation_p.P304Q|COL13A1_uc001jpx.1_Missense_Mutation_p.P282Q|COL13A1_uc001jpw.1_Missense_Mutation_p.P251Q|COL13A1_uc001jpy.1_Missense_Mutation_p.P242Q|COL13A1_uc001jpz.1_Missense_Mutation_p.P247Q|COL13A1_uc001jqa.1_Missense_Mutation_p.P244Q|COL13A1_uc001jqc.1_Missense_Mutation_p.P304Q|COL13A1_uc001jqb.1_Missense_Mutation_p.P253Q|COL13A1_uc001jql.2_Missense_Mutation_p.P304Q|COL13A1_uc001jqd.1_Missense_Mutation_p.P292Q|COL13A1_uc001jqe.1_Missense_Mutation_p.P287Q|COL13A1_uc001jqf.1_Missense_Mutation_p.P285Q|COL13A1_uc001jqg.1_Missense_Mutation_p.P282Q|COL13A1_uc001jqh.1_Missense_Mutation_p.P304Q|COL13A1_uc001jqi.1_Missense_Mutation_p.P304Q|COL13A1_uc010qjf.1_Missense_Mutation_p.P94Q|COL13A1_uc001jqk.1_Missense_Mutation_p.P142Q	p.P304Q	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			15	1447	+			304			Extracellular (Potential).|Triple-helical region 2 (COL2).			Missense_Mutation	SNP	ENST00000398978.3	37	c.911C>A	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612440	0.46631	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96716	-3.05;-3.05;-3.05;-3.05;-3.05;-4.1;-3.05;-3.05;-3.05;-3.05;-3.05;-3.05;-4.1;-4.1;-3.05;-4.1	4.64	3.72	0.42706	.	0.394822	0.24236	N	0.040304	D	0.96734	0.8934	L	0.57536	1.79	0.37029	D	0.896584	B;D;D;B;P;B;D;D;D;B;D;D;D;P;P;B;D;D;D	0.69078	0.006;0.966;0.994;0.005;0.934;0.003;0.991;0.975;0.991;0.006;0.997;0.97;0.985;0.85;0.789;0.005;0.985;0.981;0.981	B;P;D;B;P;B;P;P;P;B;D;P;P;P;P;B;P;P;P	0.65874	0.005;0.747;0.926;0.005;0.709;0.002;0.859;0.841;0.872;0.009;0.939;0.714;0.775;0.566;0.452;0.005;0.823;0.759;0.72	D	0.96128	0.9090	10	0.16420	T	0.52	1.2778	14.3338	0.66576	0.1495:0.8505:0.0:0.0	.	247;304;304;304;304;282;285;304;292;304;253;282;282;313;304;285;282;275;304	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	Q	292;304;285;282;275;247;304;304;304;304;282;282;247;282;285;253	ENSP00000381946:P292Q;ENSP00000381943:P304Q;ENSP00000381940:P285Q;ENSP00000381938:P282Q;ENSP00000381936:P275Q;ENSP00000381941:P247Q;ENSP00000348695:P304Q;ENSP00000381944:P304Q;ENSP00000381945:P304Q;ENSP00000381949:P304Q;ENSP00000346553:P282Q;ENSP00000350463:P282Q;ENSP00000428057:P247Q;ENSP00000430061:P282Q;ENSP00000428342:P285Q;ENSP00000430173:P253Q	ENSP00000346553:P282Q	P	+	2	0	COL13A1	71334717	0.973000	0.33851	0.935000	0.37517	0.974000	0.67602	3.449000	0.52950	1.278000	0.44430	0.462000	0.41574	CCA		PASS	0.502	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		3	7	3	7	---	---	---	---
COL13A1	1305	broad.mit.edu	37	10	71682537	71682537	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:71682537C>A	ENST00000398978.3	+	22	1676	c.1184C>A	c.(1183-1185)cCc>cAc	p.P395H	COL13A1_ENST00000356340.3_Missense_Mutation_p.P395H|COL13A1_ENST00000354547.3_Missense_Mutation_p.P373H|COL13A1_ENST00000398973.3_Missense_Mutation_p.P395H|COL13A1_ENST00000398968.3_Missense_Mutation_p.P376H|COL13A1_ENST00000398969.3_Missense_Mutation_p.P338H|COL13A1_ENST00000357811.3_Missense_Mutation_p.P373H|COL13A1_ENST00000398964.3_Missense_Mutation_p.P366H|COL13A1_ENST00000522165.1_Missense_Mutation_p.P376H|COL13A1_ENST00000398972.3_Missense_Mutation_p.P395H|COL13A1_ENST00000517713.1_Missense_Mutation_p.P373H|COL13A1_ENST00000398971.3_Missense_Mutation_p.P395H|COL13A1_ENST00000520133.1_Missense_Mutation_p.P344H|COL13A1_ENST00000398974.3_Missense_Mutation_p.P383H|COL13A1_ENST00000398966.3_Missense_Mutation_p.P373H|COL13A1_ENST00000520267.1_Missense_Mutation_p.P338H	NM_001130103.1	NP_001123575.1			collagen, type XIII, alpha 1									p.P395H(1)|p.P378H(1)		endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28						CTCCCTGGGCCCCCAGGGCCA	0.617																																						uc001jpr.1																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1183-1185)CCC>CAC		alpha 1 type XIII collagen isoform 1	Atorvastatin(DB01076)|Simvastatin(DB00641)						21.0	28.0	26.0					10																	71682537		1876	4101	5977	SO:0001583	missense	1305				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding	g.chr10:71682537C>A	AJ293624	CCDS44419.1, CCDS44423.1, CCDS44424.1, CCDS44425.1, CCDS44427.1, CCDS44428.1, CCDS44423.2, CCDS44424.2, CCDS44425.2, CCDS44427.2, CCDS44428.2	10q22	2013-01-16			ENSG00000197467	ENSG00000197467		"""Collagens"""	2190	protein-coding gene	gene with protein product		120350					Standard	NM_001130103		Approved		uc001jql.3	Q5TAT6	OTTHUMG00000018394	ENST00000398978.3:c.1184C>A	10.37:g.71682537C>A	ENSP00000381949:p.Pro395His					COL13A1_uc001jqj.1_Missense_Mutation_p.P395H|COL13A1_uc001jps.1_Missense_Mutation_p.P366H|COL13A1_uc001jpt.1_Missense_Mutation_p.P354H|COL13A1_uc001jpu.1_Missense_Mutation_p.P376H|COL13A1_uc001jpv.1_Missense_Mutation_p.P395H|COL13A1_uc001jpx.1_Missense_Mutation_p.P373H|COL13A1_uc001jpw.1_Missense_Mutation_p.P342H|COL13A1_uc001jpy.1_Missense_Mutation_p.P333H|COL13A1_uc001jpz.1_Missense_Mutation_p.P338H|COL13A1_uc001jqa.1_Missense_Mutation_p.P335H|COL13A1_uc001jqc.1_Missense_Mutation_p.P395H|COL13A1_uc001jqb.1_Missense_Mutation_p.P344H|COL13A1_uc001jql.2_Missense_Mutation_p.P395H|COL13A1_uc001jqd.1_Missense_Mutation_p.P383H|COL13A1_uc001jqe.1_Missense_Mutation_p.P378H|COL13A1_uc001jqf.1_Missense_Mutation_p.P376H|COL13A1_uc001jqg.1_Missense_Mutation_p.P373H|COL13A1_uc001jqh.1_Missense_Mutation_p.P395H|COL13A1_uc001jqi.1_Missense_Mutation_p.P395H|COL13A1_uc010qjf.1_Missense_Mutation_p.P185H|COL13A1_uc001jqk.1_Missense_Mutation_p.P233H	p.P395H	NM_005203	NP_005194	Q5TAT6	CODA1_HUMAN			21	1720	+			395			Extracellular (Potential).|Triple-helical region 2 (COL2).			Missense_Mutation	SNP	ENST00000398978.3	37	c.1184C>A	CCDS44419.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.162249	0.38217	.	.	ENSG00000197467	ENST00000398974;ENST00000398971;ENST00000398968;ENST00000398966;ENST00000398964;ENST00000398969;ENST00000356340;ENST00000398972;ENST00000398973;ENST00000398978;ENST00000354547;ENST00000357811;ENST00000520267;ENST00000517713;ENST00000522165;ENST00000520133	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96967	-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19;-4.19	6.17	4.32	0.51571	.	0.000000	0.64402	D	0.000001	D	0.98137	0.9385	M	0.88704	2.975	0.53005	D	0.999961	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.989;0.999;0.999;0.98;0.999;0.989;1.0;1.0;1.0;0.989;1.0;0.999;0.998;1.0;0.996;0.98;0.999;0.999;1.0	D	0.98616	1.0665	10	0.54805	T	0.06	-1.2071	13.4468	0.61146	0.0:0.8719:0.0:0.1281	.	338;395;395;395;395;373;376;395;383;395;344;373;373;404;395;376;373;366;395	B9EGD2;Q5TAT6;Q5TAT6-5;Q5TAT6-6;E9PEG9;E7ES55;E7ES51;E7ES47;E7ES46;E7ES49;E7EWL8;Q5TAT6-3;Q5TAT6-4;E7EX21;Q5TAT6-7;Q5TAT6-8;Q5TAT6-2;E7ES56;G5E987	.;CODA1_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	H	383;395;376;373;366;338;395;395;395;395;373;373;338;373;376;344	ENSP00000381946:P383H;ENSP00000381943:P395H;ENSP00000381940:P376H;ENSP00000381938:P373H;ENSP00000381936:P366H;ENSP00000381941:P338H;ENSP00000348695:P395H;ENSP00000381944:P395H;ENSP00000381945:P395H;ENSP00000381949:P395H;ENSP00000346553:P373H;ENSP00000350463:P373H;ENSP00000428057:P338H;ENSP00000430061:P373H;ENSP00000428342:P376H;ENSP00000430173:P344H	ENSP00000346553:P373H	P	+	2	0	COL13A1	71352543	0.997000	0.39634	0.999000	0.59377	0.647000	0.38526	2.564000	0.45931	1.636000	0.50526	-0.136000	0.14681	CCC		PASS	0.617	COL13A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048468.1	NM_005203		6	14	6	14	---	---	---	---
USP54	159195	broad.mit.edu	37	10	75276616	75276616	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:75276616G>A	ENST00000339859.4	-	19	3668	c.3568C>T	c.(3568-3570)Ctg>Ttg	p.L1190L	USP54_ENST00000394811.2_Silent_p.L278L|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000422491.2_Silent_p.L372L|USP54_ENST00000428547.1_Silent_p.L1040L|USP54_ENST00000497106.1_5'UTR|RP11-137L10.6_ENST00000595069.1_RNA|USP54_ENST00000408019.1_Silent_p.L1190L|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1190					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)	p.L278L(1)|p.L1190L(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCACCCTCCAGAGAGGATTGT	0.502																																					Colon(195;880 2046 8854 25025 38456)	uc001juo.2																			2	Substitution - coding silent(2)		lung(2)	breast(3)|lung(2)|kidney(1)	6						c.(3568-3570)CTG>TTG		ubiquitin specific peptidase 54							160.0	168.0	165.0					10																	75276616		2203	4300	6503	SO:0001819	synonymous_variant	159195				ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	g.chr10:75276616G>A	AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.3568C>T	10.37:g.75276616G>A						USP54_uc010qkk.1_Silent_p.L372L|USP54_uc001juk.2_Silent_p.L278L|USP54_uc001jul.2_Silent_p.L278L|USP54_uc001jum.2_RNA|USP54_uc001jun.2_RNA	p.L1190L	NM_152586	NP_689799	Q70EL1	UBP54_HUMAN			18	3585	-	Prostate(51;0.0112)		1190					A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Silent	SNP	ENST00000339859.4	37	c.3568C>T	CCDS7329.2																																																																																				PASS	0.502	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316563.2	NM_152586		113	251	113	251	---	---	---	---
GLUD1	2746	broad.mit.edu	37	10	88817471	88817471	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:88817471C>T	ENST00000277865.4	-	11	1567	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T	GLUD1_ENST00000537649.1_Missense_Mutation_p.A324T|GLUD1_ENST00000544149.1_Missense_Mutation_p.A358T|GLUD1_ENST00000465164.1_5'Flank	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	491					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamine metabolic process (GO:0006541)|positive regulation of insulin secretion (GO:0032024)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|tricarboxylic acid metabolic process (GO:0072350)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|identical protein binding (GO:0042802)|leucine binding (GO:0070728)|NAD+ binding (GO:0070403)	p.A491T(1)		endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					Hexachlorophene(DB00756)	TGGAACTCTGCCGTGGGTACA	0.428																																						uc001keh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1471-1473)GCA>ACA		glutamate dehydrogenase 1 precursor	L-Glutamic Acid(DB00142)|NADH(DB00157)						199.0	179.0	186.0					10																	88817471		2203	4300	6503	SO:0001583	missense	2746				glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding	g.chr10:88817471C>T	M20867	CCDS7382.1	10q23.2	2010-03-17			ENSG00000148672	ENSG00000148672	1.4.1.3		4335	protein-coding gene	gene with protein product		138130		GLUD		2757358	Standard	NM_005271		Approved	GDH	uc001keh.3	P00367	OTTHUMG00000018666	ENST00000277865.4:c.1471G>A	10.37:g.88817471C>T	ENSP00000277865:p.Ala491Thr					GLUD1_uc001keg.2_Missense_Mutation_p.A324T|GLUD1_uc010qmp.1_Missense_Mutation_p.A358T	p.A491T	NM_005271	NP_005262	P00367	DHE3_HUMAN			11	1568	-			491					B3KV55|B4DGN5|Q5TBU3	Missense_Mutation	SNP	ENST00000277865.4	37	c.1471G>A	CCDS7382.1	.	.	.	.	.	.	.	.	.	.	C	13.41	2.230052	0.39399	.	.	ENSG00000148672	ENST00000277865;ENST00000394415;ENST00000537649;ENST00000535802;ENST00000513510;ENST00000544149	D;D;D	0.96459	-4.02;-4.02;-4.02	4.98	3.02	0.34903	Glutamate/phenylalanine/leucine/valine dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.107964	0.64402	D	0.000007	D	0.92877	0.7734	L	0.41824	1.3	0.53688	D	0.999973	B;B	0.12630	0.001;0.006	B;B	0.11329	0.001;0.006	D	0.87513	0.2441	10	0.27082	T	0.32	.	13.8326	0.63391	0.2791:0.7209:0.0:0.0	.	358;491	B4DGN5;P00367	.;DHE3_HUMAN	T	491;448;324;190;423;358	ENSP00000277865:A491T;ENSP00000439291:A324T;ENSP00000444732:A358T	ENSP00000277865:A491T	A	-	1	0	GLUD1	88807451	0.925000	0.31364	0.958000	0.39756	0.948000	0.59901	1.757000	0.38400	0.549000	0.28973	0.298000	0.19748	GCA		PASS	0.428	GLUD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049188.1	NM_005271		4	132	4	132	---	---	---	---
KIF20B	9585	broad.mit.edu	37	10	91497625	91497625	+	Silent	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:91497625C>G	ENST00000371728.3	+	20	3092	c.3027C>G	c.(3025-3027)ctC>ctG	p.L1009L	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.L969L|KIF20B_ENST00000416354.1_Silent_p.L1039L|KIF20B_ENST00000394289.2_Silent_p.L1009L	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1009					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)	p.L969L(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TGCTCAATCTCAGGGATCTGT	0.323																																						uc001kgs.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3025-3027)CTC>CTG		M-phase phosphoprotein 1							61.0	65.0	63.0					10																	91497625		2203	4299	6502	SO:0001819	synonymous_variant	9585				cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding	g.chr10:91497625C>G	L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3027C>G	10.37:g.91497625C>G						KIF20B_uc001kgr.1_Silent_p.L969L|KIF20B_uc001kgt.1_Silent_p.L220L|KIF20B_uc009xtw.1_RNA	p.L1009L	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN			20	3099	+			1009					A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	ENST00000371728.3	37	c.3027C>G																																																																																					PASS	0.323	KIF20B-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000049330.1	NM_016195		15	88	15	88	---	---	---	---
TNKS2	80351	broad.mit.edu	37	10	93608302	93608302	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:93608302C>G	ENST00000371627.4	+	19	2900	c.2521C>G	c.(2521-2523)Ctt>Gtt	p.L841V		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	841					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.L841V(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGCCAGCAGTCTTGACAACTT	0.493																																						uc001khp.2																			1	Substitution - Missense(1)		lung(1)	kidney(3)|skin(3)|ovary(1)|lung(1)	8						c.(2521-2523)CTT>GTT		tankyrase, TRF1-interacting ankyrin-related							107.0	100.0	102.0					10																	93608302		2203	4300	6503	SO:0001583	missense	80351				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	g.chr10:93608302C>G	AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.2521C>G	10.37:g.93608302C>G	ENSP00000360689:p.Leu841Val						p.L841V	NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN			19	2818	+		Colorectal(252;0.162)	841					B2RBD3|Q9H8F2|Q9HAS4	Missense_Mutation	SNP	ENST00000371627.4	37	c.2521C>G	CCDS7417.1	.	.	.	.	.	.	.	.	.	.	C	8.164	0.790096	0.16258	.	.	ENSG00000107854	ENST00000371627	T	0.64085	-0.08	5.79	5.79	0.91817	.	0.000000	0.53938	D	0.000050	T	0.58935	0.2157	L	0.50333	1.59	0.47476	D	0.999438	B	0.20671	0.047	B	0.20767	0.031	T	0.53549	-0.8423	10	0.17369	T	0.5	.	20.0155	0.97477	0.0:1.0:0.0:0.0	.	841	Q9H2K2	TNKS2_HUMAN	V	841	ENSP00000360689:L841V	ENSP00000360689:L841V	L	+	1	0	TNKS2	93598282	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.750000	0.62162	2.742000	0.94016	0.591000	0.81541	CTT		PASS	0.493	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049374.1	NM_025235		19	86	19	86	---	---	---	---
PKD2L1	9033	broad.mit.edu	37	10	102054753	102054753	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:102054753C>A	ENST00000318222.3	-	8	1866	c.1484G>T	c.(1483-1485)gGc>gTc	p.G495V	PKD2L1_ENST00000353274.3_Missense_Mutation_p.G495V|PKD2L1_ENST00000338519.3_Missense_Mutation_p.G420V	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	495					cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|detection of mechanical stimulus (GO:0050982)|potassium ion transmembrane transport (GO:0071805)|protein homotrimerization (GO:0070207)|sensory perception of sour taste (GO:0050915)|smoothened signaling pathway (GO:0007224)|sodium ion transmembrane transport (GO:0035725)	calcium channel complex (GO:0034704)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	alpha-actinin binding (GO:0051393)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-activated potassium channel activity (GO:0015269)|cation channel activity (GO:0005261)|cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|sodium channel activity (GO:0005272)|sour taste receptor activity (GO:0033040)	p.G495V(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AAGCAGGTAGCCGAGTTGGGC	0.562																																						uc001kqx.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)	4						c.(1483-1485)GGC>GTC		polycystic kidney disease 2-like 1							129.0	122.0	124.0					10																	102054753		2203	4300	6503	SO:0001583	missense	9033				signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	g.chr10:102054753C>A	AF094827	CCDS7492.1	10q24.31	2011-12-16			ENSG00000107593	ENSG00000107593		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9011	protein-coding gene	gene with protein product	"""transient receptor potential cation channel, subfamily P, member 3"""	604532		PKD2L, PKDL		9878261, 9748274	Standard	NM_016112		Approved	PCL, TRPP3	uc001kqx.1	Q9P0L9	OTTHUMG00000018910	ENST00000318222.3:c.1484G>T	10.37:g.102054753C>A	ENSP00000325296:p.Gly495Val					PKD2L1_uc009xwm.1_Missense_Mutation_p.G448V	p.G495V	NM_016112	NP_057196	Q9P0L9	PK2L1_HUMAN		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)	8	1867	-		Colorectal(252;0.117)	495			Helical; (Potential).		O75972|Q5W039|Q9UP35|Q9UPA2	Missense_Mutation	SNP	ENST00000318222.3	37	c.1484G>T	CCDS7492.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312085	0.81358	.	.	ENSG00000107593	ENST00000338519;ENST00000353274;ENST00000318222;ENST00000339977	D;D;D	0.97430	-4.38;-4.38;-4.38	5.93	4.03	0.46877	Polycystin cation channel, PKD1/PKD2 (1);	0.097009	0.64402	D	0.000001	D	0.98661	0.9551	M	0.91510	3.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98792	1.0736	10	0.52906	T	0.07	-15.3135	15.6653	0.77225	0.0:0.74:0.26:0.0	.	448;495	Q1L4F0;Q9P0L9	.;PK2L1_HUMAN	V	420;495;495;493	ENSP00000345068:G420V;ENSP00000266049:G495V;ENSP00000325296:G495V	ENSP00000325296:G495V	G	-	2	0	PKD2L1	102044743	1.000000	0.71417	0.982000	0.44146	0.995000	0.86356	4.899000	0.63245	0.801000	0.34066	0.561000	0.74099	GGC		PASS	0.562	PKD2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049863.2	NM_016112		14	58	14	58	---	---	---	---
PSD	5662	broad.mit.edu	37	10	104172152	104172152	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:104172152C>T	ENST00000020673.5	-	6	2260	c.1734G>A	c.(1732-1734)cgG>cgA	p.R578R	PSD_ENST00000406432.1_Silent_p.R578R	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	578	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)	p.R578R(1)|p.R363R(1)		breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TGCCCAGGTGCCGGGCCACAT	0.597																																						uc001kvg.1																			2	Substitution - coding silent(2)		lung(2)	breast(2)|urinary_tract(1)	3						c.(1732-1734)CGG>CGA		pleckstrin and Sec7 domain containing							59.0	52.0	55.0					10																	104172152		2203	4300	6503	SO:0001819	synonymous_variant	5662				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr10:104172152C>T	X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.1734G>A	10.37:g.104172152C>T						PSD_uc001kvh.1_Silent_p.R199R|PSD_uc009xxd.1_Silent_p.R578R	p.R578R	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN		Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)	6	2261	-			578			SEC7.		B1AKX7|D3DR87|Q15673|Q8IVG0	Silent	SNP	ENST00000020673.5	37	c.1734G>A	CCDS31272.1																																																																																				PASS	0.597	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050041.2			11	28	11	28	---	---	---	---
SORCS1	114815	broad.mit.edu	37	10	108923810	108923811	+	Nonsense_Mutation	DNP	TC	TC	AA			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:108923810_108923811TC>AA	ENST00000263054.6	-	1	481_482	c.474_475GA>TT	c.(472-477)ctGAga>ctTTga	p.R159*	SORCS1_ENST00000344440.6_Nonsense_Mutation_p.R159*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	159					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.R159*(4)|p.L158L(2)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTGGTCAGTCTCAGCTCCTCCA	0.634																																						uc001kym.2																			6	Substitution - Nonsense(4)|Substitution - coding silent(2)		lung(6)	breast(1)|central_nervous_system(1)	2						c.(475-477)AGA>TGA|c.(472-474)CTG>CTT		SORCS receptor 1 isoform a																																				SO:0001587	stop_gained	114815					integral to membrane	neuropeptide receptor activity|protein binding	g.chr10:108923810T>A|g.chr10:108923811C>A	AF284756	CCDS7559.1	10q23-q25	2004-04-20			ENSG00000108018	ENSG00000108018			16697	protein-coding gene	gene with protein product		606283				11499680	Standard	NM_001206570		Approved	sorCS1	uc001kyl.3	Q8WY21	OTTHUMG00000019018	ENST00000263054.6:c.474_475delinsAA	10.37:g.108923810_108923811delinsAA	ENSP00000263054:p.Arg159*					SORCS1_uc001kyl.2_Nonsense_Mutation_p.R159*|SORCS1_uc009xxs.2_Nonsense_Mutation_p.R159*|SORCS1_uc001kyn.1_Nonsense_Mutation_p.R159*|SORCS1_uc001kyo.2_Nonsense_Mutation_p.R159*|SORCS1_uc001kyl.2_Silent_p.L158L|SORCS1_uc009xxs.2_Silent_p.L158L|SORCS1_uc001kyn.1_Silent_p.L158L|SORCS1_uc001kyo.2_Silent_p.L158L	p.R159*|p.L158L	NM_052918	NP_443150	Q8WY21	SORC1_HUMAN		Epithelial(162;1.66e-05)|all cancers(201;0.000689)	1	483|482	-		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)	159|158			Lumenal (Potential).		A2RRF4|Q59GG7|Q5JVT7|Q5JVT8|Q5VY14|Q86WQ1|Q86WQ2|Q9H1Y1|Q9H1Y2	Nonsense_Mutation|Silent	SNP	ENST00000263054.6	37	c.475A>T|c.474G>T	CCDS7559.1																																																																																				PASS	0.634	SORCS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050232.4	NM_052918		12	63|64	12	63	---	---	---	---
SMC3	9126	broad.mit.edu	37	10	112361435	112361436	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:112361435_112361436GG>AA	ENST00000361804.4	+	24	2811_2812	c.2685_2686GG>AA	c.(2683-2688)aaGGag>aaAAag	p.E896K		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	896					DNA repair (GO:0006281)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|mitotic spindle organization (GO:0007052)|negative regulation of DNA endoreduplication (GO:0032876)|regulation of DNA replication (GO:0006275)|signal transduction (GO:0007165)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	basement membrane (GO:0005604)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cohesin core heterodimer (GO:0008280)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lateral element (GO:0000800)|meiotic cohesin complex (GO:0030893)|nuclear matrix (GO:0016363)|nuclear meiotic cohesin complex (GO:0034991)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|dynein binding (GO:0045502)|microtubule motor activity (GO:0003777)|protein heterodimerization activity (GO:0046982)	p.E896K(2)|p.K895K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CTGGAATTAAGGAGCTTCAGAA	0.351																																						uc001kze.2																			3	Substitution - Missense(2)|Substitution - coding silent(1)		lung(3)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(2683-2685)AAG>AAA|c.(2686-2688)GAG>AAG		structural maintenance of chromosomes 3																																				SO:0001583	missense	9126				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	g.chr10:112361435G>A|g.chr10:112361436G>A	AF020043	CCDS31285.1	10q25	2014-09-17	2006-07-06	2006-07-06	ENSG00000108055	ENSG00000108055		"""Structural maintenance of chromosomes proteins"", ""Proteoglycans / Extracellular Matrix : Other"""	2468	protein-coding gene	gene with protein product	"""bamacan proteoglycan"""	606062	"""chondroitin sulfate proteoglycan 6 (bamacan)"""	CSPG6		9506951, 10358101	Standard	NM_005445		Approved	HCAP, BAM, SMC3L1, bamacan	uc001kze.3	Q9UQE7	OTTHUMG00000019042	Exception_encountered	10.37:g.112361435_112361436delinsAA	ENSP00000354720:p.Glu896Lys						p.K895K|p.E896K	NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)	24	2811|2812	+		Breast(234;0.0848)|Lung NSC(174;0.238)	895|896			Potential.		A8K156|O60464|Q5T482	Silent|Missense_Mutation	SNP	ENST00000361804.4	37	c.2685G>A|c.2686G>A	CCDS31285.1																																																																																				PASS	0.351	SMC3-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050337.1	NM_005445		20	147|146	20	146	---	---	---	---
HABP2	3026	broad.mit.edu	37	10	115341888	115341888	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:115341888C>A	ENST00000351270.3	+	9	1188	c.1092C>A	c.(1090-1092)acC>acA	p.T364T	HABP2_ENST00000542051.1_Silent_p.T338T|HABP2_ENST00000541666.1_Intron	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	364	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell adhesion (GO:0007155)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	glycosaminoglycan binding (GO:0005539)|serine-type endopeptidase activity (GO:0004252)	p.T364T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)	Hyaluronan(DB08818)	CCCACTGCACCGAGTAGGTGC	0.637																																						uc001lai.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(1090-1092)ACC>ACA		hyaluronan binding protein 2 preproprotein							16.0	18.0	17.0					10																	115341888		2201	4298	6499	SO:0001819	synonymous_variant	3026				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	g.chr10:115341888C>A		CCDS7577.1, CCDS53579.1	10q25.3	2008-08-01	2001-11-28		ENSG00000148702	ENSG00000148702			4798	protein-coding gene	gene with protein product	"""plasma hyaluronan binding protein"", ""factor VII activating protein"""	603924	"""hyaluronan-binding protein 2"""			8827452, 12437095	Standard	NM_004132		Approved	HABP, PHBP, HGFAL, FSAP	uc001lai.4	Q14520	OTTHUMG00000019073	ENST00000351270.3:c.1092C>A	10.37:g.115341888C>A						HABP2_uc010qrz.1_Intron	p.T364T	NM_004132	NP_004123	Q14520	HABP2_HUMAN		Epithelial(162;0.00319)|all cancers(201;0.0112)	9	1195	+		Colorectal(252;0.0233)|Breast(234;0.0672)	364			Peptidase S1.		A8K467|B7Z8U5|F5H5M6|O00663	Silent	SNP	ENST00000351270.3	37	c.1092C>A	CCDS7577.1																																																																																				PASS	0.637	HABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050428.1	NM_004132		3	19	3	19	---	---	---	---
ATRNL1	26033	broad.mit.edu	37	10	117093882	117093882	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:117093882G>T	ENST00000355044.3	+	19	3254	c.3128G>T	c.(3127-3129)tGt>tTt	p.C1043F	ATRNL1_ENST00000303745.7_Intron|ATRNL1_ENST00000423111.2_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1043	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)	p.C1043F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		TGTCAAGATTGTATGCCAGGT	0.368																																						uc001lcg.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|lung(1)|central_nervous_system(1)	7						c.(3127-3129)TGT>TTT		attractin-like 1 precursor							147.0	129.0	135.0					10																	117093882		2203	4300	6503	SO:0001583	missense	26033					integral to membrane	sugar binding	g.chr10:117093882G>T	AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3128G>T	10.37:g.117093882G>T	ENSP00000347152:p.Cys1043Phe					ATRNL1_uc010qsm.1_Intron|ATRNL1_uc010qsn.1_Intron	p.C1043F	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)	19	3514	+		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)	1043			Laminin EGF-like 1.|Extracellular (Potential).		O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Missense_Mutation	SNP	ENST00000355044.3	37	c.3128G>T	CCDS7592.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.449598	0.84101	.	.	ENSG00000107518	ENST00000355044	D	0.96232	-3.95	5.34	5.34	0.76211	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	D	0.99187	0.9718	H	0.99719	4.725	0.80722	D	1	D	0.65815	0.995	D	0.75484	0.986	D	0.98583	1.0651	10	0.87932	D	0	-14.4708	19.4025	0.94635	0.0:0.0:1.0:0.0	.	1043	Q5VV63	ATRN1_HUMAN	F	1043	ENSP00000347152:C1043F	ENSP00000347152:C1043F	C	+	2	0	ATRNL1	117083872	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.809000	0.99208	2.655000	0.90218	0.585000	0.79938	TGT		PASS	0.368	ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349		10	51	10	51	---	---	---	---
PNLIPRP3	119548	broad.mit.edu	37	10	118231286	118231286	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:118231286G>A	ENST00000369230.3	+	10	1213	c.1067G>A	c.(1066-1068)aGg>aAg	p.R356K		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	356	PLAT.				lipid catabolic process (GO:0016042)	extracellular region (GO:0005576)	triglyceride lipase activity (GO:0004806)	p.R356K(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		CTAGGTTGGAGGCACAAATTG	0.413																																						uc001lcl.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1066-1068)AGG>AAG		pancreatic lipase-related protein 3 precursor							174.0	180.0	178.0					10																	118231286		2203	4300	6503	SO:0001583	missense	119548				lipid catabolic process	extracellular region	triglyceride lipase activity	g.chr10:118231286G>A	BC015840	CCDS31292.1	10q26.12	2014-03-14			ENSG00000203837	ENSG00000203837	3.1.1.3		23492	protein-coding gene	gene with protein product							Standard	NM_001011709		Approved		uc001lcl.4	Q17RR3	OTTHUMG00000019100	ENST00000369230.3:c.1067G>A	10.37:g.118231286G>A	ENSP00000358232:p.Arg356Lys						p.R356K	NM_001011709	NP_001011709	Q17RR3	LIPR3_HUMAN		all cancers(201;0.0131)	10	1168	+			356			PLAT.			Missense_Mutation	SNP	ENST00000369230.3	37	c.1067G>A	CCDS31292.1	.	.	.	.	.	.	.	.	.	.	G	13.96	2.394091	0.42410	.	.	ENSG00000203837	ENST00000369230	T	0.75589	-0.95	4.18	2.27	0.28462	Lipoxygenase, LH2 (2);Lipase/lipooxygenase, PLAT/LH2 (1);	0.285245	0.22162	N	0.063774	T	0.70211	0.3198	M	0.83774	2.66	0.25916	N	0.983174	B	0.32604	0.377	B	0.25884	0.064	T	0.65413	-0.6174	10	0.72032	D	0.01	.	7.1508	0.25610	0.0909:0.0:0.7394:0.1697	.	356	Q17RR3	LIPR3_HUMAN	K	356	ENSP00000358232:R356K	ENSP00000358232:R356K	R	+	2	0	PNLIPRP3	118221276	1.000000	0.71417	1.000000	0.80357	0.638000	0.38207	2.003000	0.40844	0.473000	0.27368	-0.293000	0.09583	AGG		PASS	0.413	PNLIPRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050520.1	XM_058404		31	166	31	166	---	---	---	---
SLC18A2	6571	broad.mit.edu	37	10	119012937	119012937	+	Silent	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:119012937G>C	ENST00000298472.5	+	4	635	c.492G>C	c.(490-492)gcG>gcC	p.A164A	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	164					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)	p.A164A(2)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCATATTTGCGGGATTCTGCA	0.433																																						uc001ldd.1																			2	Substitution - coding silent(2)		lung(2)		0						c.(490-492)GCG>GCC		solute carrier family 18 (vesicular monoamine),	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)						250.0	216.0	227.0					10																	119012937		2203	4300	6503	SO:0001819	synonymous_variant	6571				neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity	g.chr10:119012937G>C	L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.492G>C	10.37:g.119012937G>C						SLC18A2_uc009xyy.1_5'UTR	p.A164A	NM_003054	NP_003045	Q05940	VMAT2_HUMAN		all cancers(201;0.029)	4	523	+		Colorectal(252;0.19)	164			Helical; (Potential).		B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Silent	SNP	ENST00000298472.5	37	c.492G>C	CCDS7599.1																																																																																				PASS	0.433	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050563.1	NM_003054		19	136	19	136	---	---	---	---
PIDD1	55367	broad.mit.edu	37	11	803520	803520	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:803520C>T	ENST00000347755.5	-	3	504	c.363G>A	c.(361-363)ctG>ctA	p.L121L	PIDD_ENST00000534649.1_5'UTR|PIDD_ENST00000411829.2_Silent_p.L121L	NM_145886.3|NM_145887.3	NP_665893.2|NP_665894.2												p.L121L(1)									CCAGGCCACTCAGACCAGCGG	0.677																																						uc001lro.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(361-363)CTG>CTA		leucine rich repeat and death domain containing							43.0	47.0	46.0					11																	803520		2203	4299	6502	SO:0001819	synonymous_variant	55367				apoptosis|signal transduction	cytoplasm|nucleus	death receptor binding	g.chr11:803520C>T																												ENST00000347755.5:c.363G>A	11.37:g.803520C>T						LRDD_uc009yck.1_5'Flank|LRDD_uc001lrk.1_Silent_p.L121L|LRDD_uc001lrl.1_5'UTR|LRDD_uc001lrm.1_5'UTR|LRDD_uc001lrn.1_5'UTR|LRDD_uc001lrp.1_5'UTR	p.L121L	NM_145886	NP_665893	Q9HB75	PIDD_HUMAN		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	3	505	-		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	121						Silent	SNP	ENST00000347755.5	37	c.363G>A	CCDS7716.1																																																																																				PASS	0.677	PIDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257103.1			8	27	8	27	---	---	---	---
CHID1	66005	broad.mit.edu	37	11	884148	884148	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:884148G>A	ENST00000449825.1	-	9	1079	c.723C>T	c.(721-723)ttC>ttT	p.F241F	CHID1_ENST00000526714.1_Intron|CHID1_ENST00000436108.2_Silent_p.F241F|CHID1_ENST00000323578.8_Silent_p.F241F|CHID1_ENST00000336845.5_Silent_p.F266F|CHID1_ENST00000454838.2_Silent_p.F266F|CHID1_ENST00000429789.2_Silent_p.F210F|CHID1_ENST00000528581.1_Silent_p.F266F|CHID1_ENST00000323541.7_Silent_p.F271F	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	241					carbohydrate metabolic process (GO:0005975)|chitin catabolic process (GO:0006032)|innate immune response (GO:0045087)|negative regulation of cytokine production involved in inflammatory response (GO:1900016)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	chitinase activity (GO:0004568)|oligosaccharide binding (GO:0070492)	p.F241F(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		CCTTGTGCGTGAACATGCCCA	0.612																																					Pancreas(117;992 2327 5172 41921)	uc001lsl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(721-723)TTC>TTT		chitinase domain containing 1 isoform a							135.0	94.0	108.0					11																	884148		2203	4299	6502	SO:0001819	synonymous_variant	66005				chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	g.chr11:884148G>A	AK124697	CCDS7722.1, CCDS44510.1, CCDS44511.1	11p15.5	2005-10-27			ENSG00000177830	ENSG00000177830			28474	protein-coding gene	gene with protein product		615692					Standard	NM_023947		Approved	MGC3234, FLJ42707	uc001lsm.3	Q9BWS9	OTTHUMG00000133314	ENST00000449825.1:c.723C>T	11.37:g.884148G>A						CHID1_uc010qwu.1_Silent_p.F271F|CHID1_uc010qwv.1_Silent_p.F302F|CHID1_uc001lsn.2_Silent_p.F266F|CHID1_uc001lsm.2_Silent_p.F241F|CHID1_uc001lso.2_Silent_p.F241F|CHID1_uc001lsp.2_Silent_p.F210F|CHID1_uc010qww.1_Silent_p.F241F|uc001lsq.1_5'Flank|uc001lsr.1_5'Flank	p.F241F	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)	9	884	-		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	241					B3KWB0|Q8NBM9|Q96CZ3|Q96S93|Q96SK0|Q9BY52	Silent	SNP	ENST00000449825.1	37	c.723C>T	CCDS7722.1																																																																																				PASS	0.612	CHID1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257112.1	NM_023947		9	30	9	30	---	---	---	---
MUC2	4583	broad.mit.edu	37	11	1087495	1087495	+	Nonsense_Mutation	SNP	T	T	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:1087495T>A	ENST00000441003.2	+	24	3273	c.3246T>A	c.(3244-3246)tgT>tgA	p.C1082*	MUC2_ENST00000359061.5_Nonsense_Mutation_p.C1082*	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1082					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)		p.C1082*(2)		NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGTGCTCCTGTGACACGGGTG	0.657																																						uc001lsx.1																			2	Substitution - Nonsense(2)		lung(2)	lung(1)|breast(1)	2						c.(3244-3246)TGT>TGA		mucin 2 precursor	Pranlukast(DB01411)						80.0	92.0	88.0					11																	1087495		2165	4262	6427	SO:0001587	stop_gained	4583					inner mucus layer|outer mucus layer	protein binding	g.chr11:1087495T>A	L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.3246T>A	11.37:g.1087495T>A	ENSP00000415183:p.Cys1082*						p.C1082*	NM_002457	NP_002448	Q02817	MUC2_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	24	3273	+		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)	1082					Q14878	Nonsense_Mutation	SNP	ENST00000441003.2	37	c.3246T>A		.	.	.	.	.	.	.	.	.	.	t	40	8.006793	0.98607	.	.	ENSG00000198788	ENST00000441003;ENST00000359061	.	.	.	3.62	-2.29	0.06805	.	0.162448	0.39407	U	0.001364	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.747	0.46187	0.0:0.1799:0.0:0.8201	.	.	.	.	X	1082	.	ENSP00000351956:C1082X	C	+	3	2	MUC2	1077495	0.107000	0.21998	0.955000	0.39395	0.684000	0.39900	-0.589000	0.05767	-0.316000	0.08690	-0.433000	0.05886	TGT		PASS	0.657	MUC2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000345894.2	NM_002457		6	37	6	37	---	---	---	---
OR52B4	143496	broad.mit.edu	37	11	4389100	4389100	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:4389100C>A	ENST00000408920.2	-	1	516	c.426G>T	c.(424-426)ctG>ctT	p.L142L		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	142					cognition (GO:0050890)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L142L(1)		NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTTCTTGATCAGAGCATTTG	0.383																																						uc010qye.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(424-426)CTG>CTT		olfactory receptor, family 52, subfamily B,							100.0	96.0	97.0					11																	4389100		1941	4152	6093	SO:0001819	synonymous_variant	143496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:4389100C>A	AB065792	CCDS41609.1	11p15.4	2012-08-09			ENSG00000221996	ENSG00000221996		"""GPCR / Class A : Olfactory receptors"""	15209	protein-coding gene	gene with protein product							Standard	NM_001005161		Approved		uc010qye.2	Q8NGK2	OTTHUMG00000154222	ENST00000408920.2:c.426G>T	11.37:g.4389100C>A							p.L142L	NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)	1	426	-		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)	142			Helical; Name=4; (Potential).		A6NP68|Q6IFK6	Silent	SNP	ENST00000408920.2	37	c.426G>T	CCDS41609.1																																																																																				PASS	0.383	OR52B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334449.3	NM_001005161		20	63	20	63	---	---	---	---
TAF10	6881	broad.mit.edu	37	11	6635806	6635806	+	5'Flank	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:6635806C>A	ENST00000299424.4	-	0	0				TPP1_ENST00000534644.1_5'Flank|TAF10_ENST00000531760.1_5'Flank|TPP1_ENST00000533371.1_Missense_Mutation_p.A312S|TPP1_ENST00000299427.6_Missense_Mutation_p.A555S	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa						chromatin organization (GO:0006325)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|protein homooligomerization (GO:0051260)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|perinuclear region of cytoplasm (GO:0048471)|STAGA complex (GO:0030914)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|RNA polymerase binding (GO:0070063)|transcription coactivator activity (GO:0003713)	p.A555S(1)					Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCAGCAAAGCTGGGAAGTTG	0.562																																						uc001mel.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1663-1665)GCT>TCT		tripeptidyl-peptidase I preproprotein							83.0	78.0	80.0					11																	6635806		2201	4296	6497	SO:0001631	upstream_gene_variant	1200				bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity	g.chr11:6635806C>A	U13991, U25816	CCDS7769.1	11p15.5-p15.2	2006-11-14	2002-08-29	2001-12-07	ENSG00000166337	ENSG00000166337			11543	protein-coding gene	gene with protein product		600475	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, H, 30kD"""	TAF2H, TAF2A		7923369	Standard	NM_006284		Approved	TAFII30	uc001mej.2	Q12962	OTTHUMG00000133402		11.37:g.6635806C>A	Exception_encountered					TAF10_uc001mej.1_5'Flank|TPP1_uc001mek.1_Missense_Mutation_p.A312S	p.A555S	NM_000391	NP_000382	O14773	TPP1_HUMAN		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)	13	1724	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	555					O00703|Q13175|Q6FH13	Missense_Mutation	SNP	ENST00000299424.4	37	c.1663G>T	CCDS7769.1	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872073	0.51695	.	.	ENSG00000166340	ENST00000299427;ENST00000533371;ENST00000453338	D;D	0.99105	-5.43;-5.16	4.61	4.61	0.57282	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.155323	0.48767	D	0.000162	D	0.97056	0.9038	L	0.50993	1.605	0.80722	D	1	B	0.29835	0.258	B	0.26770	0.073	D	0.97341	0.9957	10	0.14252	T	0.57	-23.5936	15.0025	0.71486	0.0:1.0:0.0:0.0	.	555	O14773	TPP1_HUMAN	S	555;312;338	ENSP00000299427:A555S;ENSP00000437066:A312S	ENSP00000299427:A555S	A	-	1	0	TPP1	6592382	0.992000	0.36948	1.000000	0.80357	0.982000	0.71751	5.591000	0.67536	2.401000	0.81631	0.561000	0.74099	GCT		PASS	0.562	TAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257259.2	NM_006284		18	77	18	77	---	---	---	---
SERGEF	26297	broad.mit.edu	37	11	18029510	18029510	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:18029510C>T	ENST00000265965.5	-	2	325	c.174G>A	c.(172-174)ggG>ggA	p.G58G	SERGEF_ENST00000532265.1_5'UTR|SERGEF_ENST00000528200.1_Silent_p.G58G|RP1-59M18.2_ENST00000525523.1_RNA|SERGEF_ENST00000532212.1_5'UTR	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	58					negative regulation of protein secretion (GO:0050709)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)	p.G58G(1)		autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						CAGAGTGGCCCCCTCCTCCTG	0.468																																						uc001mnm.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(172-174)GGG>GGA		deafness locus associated putative guanine							86.0	79.0	81.0					11																	18029510		2200	4293	6493	SO:0001819	synonymous_variant	26297				negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity	g.chr11:18029510C>T	AJ243950	CCDS7828.1	11p14.3	2006-03-09			ENSG00000129158	ENSG00000129158			17499	protein-coding gene	gene with protein product		606051				10571079, 12459492	Standard	NM_012139		Approved	DelGEF, Gnefr	uc001mnm.3	Q9UGK8	OTTHUMG00000166420	ENST00000265965.5:c.174G>A	11.37:g.18029510C>T						SERGEF_uc009yhd.2_RNA|SERGEF_uc001mnn.2_Silent_p.G58G|SERGEF_uc010rcz.1_5'UTR|SERGEF_uc001mno.1_5'UTR	p.G58G	NM_012139	NP_036271	Q9UGK8	SRGEF_HUMAN			2	254	-			58			RCC1 1.		Q9UGK9	Silent	SNP	ENST00000265965.5	37	c.174G>A	CCDS7828.1																																																																																				PASS	0.468	SERGEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389538.1	NM_012139		23	62	23	62	---	---	---	---
SAAL1	113174	broad.mit.edu	37	11	18111804	18111804	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:18111804C>A	ENST00000524803.1	-	6	556	c.507G>T	c.(505-507)gtG>gtT	p.V169V	SAAL1_ENST00000300013.4_Silent_p.V169V|SAAL1_ENST00000529318.1_Silent_p.V169V|SAAL1_ENST00000533851.1_5'UTR			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	169								p.V169V(1)		breast(2)|large_intestine(5)|lung(8)	15						AAACACTGGCCACTTCTGCCT	0.373																																						uc001mnq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(505-507)GTG>GTT		serum amyloid A-like 1							55.0	51.0	53.0					11																	18111804		2200	4293	6493	SO:0001819	synonymous_variant	113174				acute-phase response	extracellular region	binding	g.chr11:18111804C>A	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.507G>T	11.37:g.18111804C>A						SAAL1_uc001mnr.2_Silent_p.V169V|SAAL1_uc001mns.2_RNA|SAAL1_uc009yhf.2_Silent_p.V169V	p.V169V	NM_138421	NP_612430	Q96ER3	SAAL1_HUMAN			6	557	-			169					A6NH05	Silent	SNP	ENST00000524803.1	37	c.507G>T	CCDS31439.1																																																																																				PASS	0.373	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		7	44	7	44	---	---	---	---
MRGPRX2	117194	broad.mit.edu	37	11	19077955	19077955	+	De_novo_Start_InFrame	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:19077955G>T	ENST00000329773.2	-	0	82					NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2						positive regulation of cytokinesis (GO:0032467)|sensory perception of pain (GO:0019233)|sleep (GO:0030431)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide binding (GO:0042923)			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TCCATGCTCAGAAAACCTCCA	0.498																																					GBM(198;1966 2199 4849 37227 49954)	uc001mph.2																			0				ovary(1)	1						c.(-7--3)TTCTG>TTATG		MAS-related GPR, member X2							136.0	151.0	146.0					11																	19077955		2199	4293	6492			117194				sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	g.chr11:19077955G>T		CCDS7847.1	11p15.1	2013-10-10			ENSG00000183695	ENSG00000183695		"""GPCR / Class A : Orphans"""	17983	protein-coding gene	gene with protein product		607228				11551509	Standard	NM_054030		Approved	MRGX2	uc001mph.3	Q96LB1	OTTHUMG00000166098		11.37:g.19077955G>T								NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN			2	83	-								B5B0C7|Q4QXW4|Q4QXW7|Q4QXX0|Q4QXX2|Q4QXX3|Q4QXX4|Q4QXX6|Q4QXX7	Translation_Start_Site	SNP	ENST00000329773.2	37	c.-5C>A	CCDS7847.1																																																																																				PASS	0.498	MRGPRX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387819.1	NM_054030		37	188	37	188	---	---	---	---
NAV2	89797	broad.mit.edu	37	11	20124928	20124928	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:20124928G>T	ENST00000396087.3	+	36	6821	c.6722G>T	c.(6721-6723)gGg>gTg	p.G2241V	NAV2_ENST00000311043.8_Missense_Mutation_p.G1246V|NAV2_ENST00000533917.1_Missense_Mutation_p.G1246V|NAV2_ENST00000360655.4_Missense_Mutation_p.G2118V|NAV2_ENST00000540292.1_Missense_Mutation_p.G2172V|NAV2_ENST00000349880.4_Missense_Mutation_p.G2182V|NAV2_ENST00000396085.1_Missense_Mutation_p.G2185V|NAV2_ENST00000527559.2_Missense_Mutation_p.G2170V	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2241					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.G2241V(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ATCTTCAATGGGCTGCTCAAC	0.557																																						uc001mpr.3																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(1)|pancreas(1)	6						c.(6553-6555)GGG>GTG		neuron navigator 2 isoform 1							145.0	124.0	131.0					11																	20124928		2203	4300	6503	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:20124928G>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.6722G>T	11.37:g.20124928G>T	ENSP00000379396:p.Gly2241Val					NAV2_uc001mpp.2_Missense_Mutation_p.G2118V|NAV2_uc009yhx.2_Missense_Mutation_p.G1246V|NAV2_uc009yhz.2_Missense_Mutation_p.G827V|NAV2_uc001mpu.2_Missense_Mutation_p.G620V|NAV2_uc001mpv.2_5'Flank	p.G2185V	NM_182964	NP_892009	Q8IVL1	NAV2_HUMAN			33	6915	+			2241					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.6554G>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948348	0.92593	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292;ENST00000533917;ENST00000311043	D;D;D;D;D;D;D;D	0.88664	-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41;-2.41	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000003	D	0.94574	0.8252	M	0.78456	2.415	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.93992	0.7268	9	.	.	.	.	19.2099	0.93749	0.0:0.0:1.0:0.0	.	2185;1246;2182;2118	A7E2D6;Q8IVL1-5;Q8IVL1-3;Q8IVL1-4	.;.;.;.	V	2118;2185;2182;2241;2170;2172;1246;1246	ENSP00000353871:G2118V;ENSP00000379394:G2185V;ENSP00000309577:G2182V;ENSP00000379396:G2241V;ENSP00000435395:G2170V;ENSP00000443489:G2172V;ENSP00000437316:G1246V;ENSP00000312169:G1246V	.	G	+	2	0	NAV2	20081504	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	9.869000	0.99810	2.631000	0.89168	0.655000	0.94253	GGG		PASS	0.557	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		18	94	18	94	---	---	---	---
ANO5	203859	broad.mit.edu	37	11	22294421	22294421	+	Silent	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:22294421G>T	ENST00000324559.8	+	19	2438	c.2121G>T	c.(2119-2121)gtG>gtT	p.V707V	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	707					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.V707V(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGATTCGAGTGGATGCCTGGA	0.393																																						uc001mqi.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(2119-2121)GTG>GTT		anoctamin 5 isoform a							150.0	137.0	142.0					11																	22294421		2203	4300	6503	SO:0001819	synonymous_variant	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22294421G>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2121G>T	11.37:g.22294421G>T						ANO5_uc001mqj.2_Silent_p.V706V	p.V707V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN			19	2438	+			707			Cytoplasmic (Potential).			Silent	SNP	ENST00000324559.8	37	c.2121G>T	CCDS31444.1																																																																																				PASS	0.393	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		14	58	14	58	---	---	---	---
CCDC73	493860	broad.mit.edu	37	11	32635290	32635290	+	Silent	SNP	G	G	A	rs201555986		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:32635290G>A	ENST00000335185.5	-	16	2617	c.2574C>T	c.(2572-2574)ttC>ttT	p.F858F	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	858								p.F858F(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GTCCTTCACTGAACATTTTTC	0.358																																						uc001mtv.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2572-2574)TTC>TTT		sarcoma antigen NY-SAR-79		G		0,3692		0,0,1846	157.0	146.0	149.0		2574	2.2	0.1	11		149	4,8182		0,4,4089	no	coding-synonymous	CCDC73	NM_001008391.2		0,4,5935	AA,AG,GG		0.0489,0.0,0.0337		858/1080	32635290	4,11874	1846	4093	5939	SO:0001819	synonymous_variant	493860							g.chr11:32635290G>A	AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.2574C>T	11.37:g.32635290G>A							p.F858F	NM_001008391	NP_001008392	Q6ZRK6	CCD73_HUMAN			16	2618	-	Breast(20;0.112)		858					Q6P5Q7|Q6ZMW0|Q86WE7	Silent	SNP	ENST00000335185.5	37	c.2574C>T	CCDS41630.1																																																																																				PASS	0.358	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		29	132	29	132	---	---	---	---
CD44	960	broad.mit.edu	37	11	35226076	35226076	+	Missense_Mutation	SNP	A	A	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:35226076A>G	ENST00000428726.2	+	10	1294	c.1171A>G	c.(1171-1173)Agt>Ggt	p.S391G	CD44_ENST00000360158.4_Intron|CD44_ENST00000278386.6_Intron|CD44_ENST00000437706.2_Missense_Mutation_p.S391G|CD44_ENST00000434472.2_Intron|CD44_ENST00000433354.2_Missense_Mutation_p.S392G|CD44_ENST00000263398.6_Intron|CD44_ENST00000352818.4_Intron|CD44_ENST00000449691.2_Intron|CD44_ENST00000433892.2_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.S348G|CD44_ENST00000526669.2_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	391	Stem.				blood coagulation (GO:0007596)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell-matrix adhesion (GO:0007160)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|monocyte aggregation (GO:0070487)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|single organismal cell-cell adhesion (GO:0016337)|small molecule metabolic process (GO:0044281)|Wnt signaling pathway (GO:0016055)|wound healing involved in inflammatory response (GO:0002246)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)	p.S391G(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronan(DB08818)	AACTCCTAGTAGTACAACGGA	0.443																																						uc001mvu.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1171-1173)AGT>GGT		CD44 antigen isoform 1 precursor	Hyaluronidase(DB00070)						147.0	125.0	133.0					11																	35226076		2202	4298	6500	SO:0001583	missense	960				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity	g.chr11:35226076A>G	M59040	CCDS7897.1, CCDS31455.1, CCDS31456.1, CCDS31457.1, CCDS31458.1, CCDS55754.1, CCDS55755.1	11p13	2014-07-18	2006-03-28		ENSG00000026508	ENSG00000026508		"""CD molecules"", ""Blood group antigens"", ""Proteoglycans / Cell surface : Other"""	1681	protein-coding gene	gene with protein product	"""hematopoietic cell E- and L-selectin ligand"", ""chondroitin sulfate proteoglycan 8"""	107269	"""CD44 antigen (homing function and Indian blood group system)"""	MIC4, MDU2, MDU3		2454887	Standard	NM_001202555		Approved	IN, MC56, Pgp1, CD44R, HCELL, CSPG8	uc001mvu.3	P16070	OTTHUMG00000044388	ENST00000428726.2:c.1171A>G	11.37:g.35226076A>G	ENSP00000398632:p.Ser391Gly					CD44_uc001mvv.2_Missense_Mutation_p.S348G|CD44_uc001mvw.2_Intron|CD44_uc001mvx.2_Intron|CD44_uc001mvy.2_Intron|CD44_uc001mwc.3_Intron|CD44_uc010rer.1_Intron|CD44_uc009ykh.2_Intron|CD44_uc010res.1_Intron|CD44_uc010ret.1_Intron|CD44_uc010reu.1_Intron	p.S391G	NM_000610	NP_000601	P16070	CD44_HUMAN	STAD - Stomach adenocarcinoma(6;0.00731)		10	1605	+	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	391			Extracellular (Potential).|Stem.		A5YRN9|B6EAT9|D3DR12|D3DR13|O95370|P22511|Q04858|Q13419|Q13957|Q13958|Q13959|Q13960|Q13961|Q13967|Q13968|Q13980|Q15861|Q16064|Q16065|Q16066|Q16208|Q16522|Q86T72|Q86Z27|Q8N694|Q92493|Q96J24|Q9H5A5|Q9UC28|Q9UC29|Q9UC30|Q9UCB0|Q9UJ36	Missense_Mutation	SNP	ENST00000428726.2	37	c.1171A>G	CCDS7897.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.926|9.926	1.213581|1.213581	0.22289|0.22289	.|.	.|.	ENSG00000026508|ENSG00000026508	ENST00000415148;ENST00000433354;ENST00000437706;ENST00000428726;ENST00000531110;ENST00000528672|ENST00000526553	T;T;T;T;T;T|.	0.25414|.	1.8;1.8;1.8;1.8;1.8;1.8|.	4.39|4.39	3.27|3.27	0.37495|0.37495	.|.	0.466636|.	0.20449|.	N|.	0.092132|.	T|.	0.46073|.	0.1374|.	M|M	0.65975|0.65975	2.015|2.015	0.22081|0.22081	N|N	0.999374|0.999374	B;P|.	0.36683|.	0.218;0.565|.	B;B|.	0.32211|.	0.088;0.142|.	T|.	0.35126|.	-0.9801|.	10|.	0.37606|.	T|.	0.19|.	-22.2004|-22.2004	6.7088|6.7088	0.23266|0.23266	0.8954:0.0:0.1046:0.0|0.8954:0.0:0.1046:0.0	.|.	348;391|.	P16070-4;P16070|.	.;CD44_HUMAN|.	G|W	348;392;391;391;103;43|44	ENSP00000389830:S348G;ENSP00000414567:S392G;ENSP00000403990:S391G;ENSP00000398632:S391G;ENSP00000436549:S103G;ENSP00000431860:S43G|.	ENSP00000389830:S348G|.	S|X	+|+	1|2	0|0	CD44|CD44	35182652|35182652	0.752000|0.752000	0.28338|0.28338	0.027000|0.027000	0.17364|0.17364	0.001000|0.001000	0.01503|0.01503	1.141000|1.141000	0.31528|0.31528	1.020000|1.020000	0.39573|0.39573	-0.250000|-0.250000	0.11733|0.11733	AGT|TAG		PASS	0.443	CD44-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388927.1	NM_000610		35	56	35	56	---	---	---	---
RAG1	5896	broad.mit.edu	37	11	36595984	36595984	+	Nonsense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:36595984C>G	ENST00000299440.5	+	2	1242	c.1130C>G	c.(1129-1131)tCa>tGa	p.S377*		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	377					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.S377*(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				CACCACATCTCAAGTCACAAG	0.468									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.3																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)|lung(1)|kidney(1)|skin(1)	5						c.(1129-1131)TCA>TGA		recombination activating gene 1							49.0	50.0	50.0					11																	36595984		2202	4298	6500	SO:0001587	stop_gained	5896	Familial_Hemophagocytic_Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36595984C>G	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.1130C>G	11.37:g.36595984C>G	ENSP00000299440:p.Ser377*					RAG1_uc001mwt.2_RNA	p.S377*	NM_000448	NP_000439	P15918	RAG1_HUMAN			2	1254	+	all_lung(20;0.226)	all_hematologic(20;0.107)	377			RAG1-type.		E9PPC4|Q8IY72|Q8NER2	Nonsense_Mutation	SNP	ENST00000299440.5	37	c.1130C>G	CCDS7902.1	.	.	.	.	.	.	.	.	.	.	C	32	5.133217	0.94517	.	.	ENSG00000166349	ENST00000534663;ENST00000299440	.	.	.	5.53	4.62	0.57501	.	0.549008	0.18317	N	0.144925	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.2017	0.65710	0.0:0.9284:0.0:0.0716	.	.	.	.	X	377	.	ENSP00000299440:S377X	S	+	2	0	RAG1	36552560	0.665000	0.27466	0.965000	0.40720	0.987000	0.75469	2.274000	0.43390	1.360000	0.45960	0.650000	0.86243	TCA		PASS	0.468	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		16	60	16	60	---	---	---	---
API5	8539	broad.mit.edu	37	11	43357478	43357478	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:43357478G>C	ENST00000531273.1	+	13	1565	c.1426G>C	c.(1426-1428)Gat>Cat	p.D476H	API5_ENST00000529334.1_3'UTR|API5_ENST00000534695.1_Intron|API5_ENST00000378852.3_Missense_Mutation_p.D476H|API5_ENST00000534600.1_Missense_Mutation_p.D476H|RP11-484D2.2_ENST00000526220.1_RNA|API5_ENST00000420461.2_Missense_Mutation_p.D422H|API5_ENST00000455725.2_Missense_Mutation_p.D465H			Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	476					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of fibroblast apoptotic process (GO:2000270)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	fibroblast growth factor binding (GO:0017134)|poly(A) RNA binding (GO:0044822)	p.D476H(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						ACCAAAAAGAGATGCCAGGCA	0.423																																					Pancreas(1;98 122 5625 20895 49453)	uc010rfh.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1426-1428)GAT>CAT		apoptosis inhibitor 5 isoform a							85.0	84.0	84.0					11																	43357478		2203	4297	6500	SO:0001583	missense	8539				anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding	g.chr11:43357478G>C	U83857	CCDS31465.1, CCDS44572.1, CCDS44573.1	11p12	2010-09-30			ENSG00000166181	ENSG00000166181			594	protein-coding gene	gene with protein product	"""API5-like 1"", ""fibroblast growth factor 2-interacting factor 2"", ""migration-inducing protein MIG8"""	609774				9307294	Standard	NR_024625		Approved	AAC-11, API5L1, AAC11	uc010rfh.1	Q9BZZ5	OTTHUMG00000166395	ENST00000531273.1:c.1426G>C	11.37:g.43357478G>C	ENSP00000431391:p.Asp476His					API5_uc010rfg.1_Missense_Mutation_p.D465H|API5_uc001mxf.2_Missense_Mutation_p.D476H|API5_uc010rfi.1_Missense_Mutation_p.D422H|API5_uc001mxg.2_Missense_Mutation_p.D350H	p.D476H	NM_001142930	NP_001136402	Q9BZZ5	API5_HUMAN			13	1599	+			476					B4DGR0|B4DRJ2|D3DR21|O15441|Q9Y4J7	Missense_Mutation	SNP	ENST00000531273.1	37	c.1426G>C	CCDS44572.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719724	0.89205	.	.	ENSG00000166181	ENST00000455725;ENST00000531273;ENST00000420461;ENST00000378852;ENST00000534600;ENST00000526394	T;T;T;T;T;T	0.52983	1.71;1.71;1.86;1.86;1.83;0.64	5.16	5.16	0.70880	.	.	.	.	.	T	0.52645	0.1747	L	0.36672	1.1	0.80722	D	1	D;P;P;P;D	0.54397	0.966;0.927;0.918;0.911;0.958	P;P;P;P;P	0.52758	0.708;0.708;0.621;0.482;0.561	T	0.51028	-0.8757	9	0.44086	T	0.13	-24.7693	18.9924	0.92798	0.0:0.0:1.0:0.0	.	422;476;465;476;476	B4DGR0;Q9BZZ5;B4E283;G3V1C3;Q9BZZ5-2	.;API5_HUMAN;.;.;.	H	465;476;422;476;476;291	ENSP00000399341:D465H;ENSP00000431391:D476H;ENSP00000402540:D422H;ENSP00000368129:D476H;ENSP00000434462:D476H;ENSP00000436436:D291H	ENSP00000368129:D476H	D	+	1	0	API5	43314054	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.434000	0.97515	2.552000	0.86080	0.650000	0.86243	GAT		PASS	0.423	API5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389545.1	NM_006595		14	52	14	52	---	---	---	---
SYT13	57586	broad.mit.edu	37	11	45265766	45265766	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:45265766C>G	ENST00000020926.3	-	6	1229	c.1118G>C	c.(1117-1119)aGt>aCt	p.S373T		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	373	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)		p.S373T(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CAGCTCCACACTGGAGGCCTG	0.597																																						uc001myq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1117-1119)AGT>ACT		synaptotagmin XIII							97.0	84.0	88.0					11																	45265766		2203	4299	6502	SO:0001583	missense	57586					transport vesicle		g.chr11:45265766C>G	AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.1118G>C	11.37:g.45265766C>G	ENSP00000020926:p.Ser373Thr					SYT13_uc009yku.1_Missense_Mutation_p.S229T	p.S373T	NM_020826	NP_065877	Q7L8C5	SYT13_HUMAN			6	1244	-			373			C2 2.|Cytoplasmic (Potential).		A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	ENST00000020926.3	37	c.1118G>C	CCDS31470.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012937	0.75161	.	.	ENSG00000019505	ENST00000020926	T	0.05855	3.38	5.54	5.54	0.83059	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.05593	0.0147	L	0.28115	0.83	0.37636	D	0.921846	P	0.38729	0.644	B	0.36378	0.223	T	0.48163	-0.9059	10	0.34782	T	0.22	.	12.7804	0.57474	0.0:0.9255:0.0:0.0744	.	373	Q7L8C5	SYT13_HUMAN	T	373	ENSP00000020926:S373T	ENSP00000020926:S373T	S	-	2	0	SYT13	45222342	0.978000	0.34361	1.000000	0.80357	0.996000	0.88848	2.348000	0.44045	2.615000	0.88500	0.655000	0.94253	AGT		PASS	0.597	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390110.1	NM_020826		18	30	18	30	---	---	---	---
CKAP5	9793	broad.mit.edu	37	11	46772716	46772716	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:46772716C>G	ENST00000529230.1	-	40	5458	c.5412G>C	c.(5410-5412)caG>caC	p.Q1804H	CKAP5_ENST00000354558.3_Missense_Mutation_p.Q1744H|CKAP5_ENST00000312055.5_Missense_Mutation_p.Q1744H|MIR5582_ENST00000579697.1_RNA|CKAP5_ENST00000415402.1_Missense_Mutation_p.Q1811H			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1804					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.Q1804H(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGCTCCCAGTCTGGTCCATAC	0.507																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(5410-5412)CAG>CAC		colonic and hepatic tumor over-expressed protein							160.0	139.0	146.0					11																	46772716		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46772716C>G		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.5412G>C	11.37:g.46772716C>G	ENSP00000432768:p.Gln1804His					CKAP5_uc009ylg.1_Missense_Mutation_p.Q1697H|CKAP5_uc001ndj.1_Missense_Mutation_p.Q1744H|CKAP5_uc001ndh.1_Missense_Mutation_p.Q733H	p.Q1804H	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			40	5522	-			1804					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.5412G>C	CCDS31477.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.15|14.15	2.450957|2.450957	0.43531|0.43531	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000525896|ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	.|T;T;T;T	.|0.45668	.|0.91;0.89;0.89;0.89	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.186102	.|0.50627	.|D	.|0.000108	T|T	0.31670|0.31670	0.0804|0.0804	N|N	0.08118|0.08118	0|0	0.34603|0.34603	D|D	0.716766|0.716766	.|P;D;P	.|0.54964	.|0.763;0.969;0.947	.|B;P;P	.|0.50970	.|0.35;0.655;0.453	T|T	0.44112|0.44112	-0.9349|-0.9349	5|10	.|0.48119	.|T	.|0.1	-17.5571|-17.5571	9.9804|9.9804	0.41811|0.41811	0.0:0.7889:0.1393:0.0718|0.0:0.7889:0.1393:0.0718	.|.	.|1811;1744;1804	.|Q14008-3;Q14008-2;Q14008	.|.;.;CKAP5_HUMAN	H|H	43|1804;1811;1744;1744	.|ENSP00000432768:Q1804H;ENSP00000395302:Q1811H;ENSP00000310227:Q1744H;ENSP00000346566:Q1744H	.|ENSP00000310227:Q1744H	D|Q	-|-	1|3	0|2	CKAP5|CKAP5	46729292|46729292	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.998000|0.998000	0.95712|0.95712	1.451000|1.451000	0.35145|0.35145	2.775000|2.775000	0.95449|0.95449	0.650000|0.650000	0.86243|0.86243	GAC|CAG		PASS	0.507	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		22	79	22	79	---	---	---	---
LRP4	4038	broad.mit.edu	37	11	46898789	46898789	+	Missense_Mutation	SNP	T	T	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:46898789T>C	ENST00000378623.1	-	23	3480	c.3238A>G	c.(3238-3240)Atg>Gtg	p.M1080V	LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1080					dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)	p.M1080V(1)		breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTGTTCTTCATGGTAATGTTG	0.498																																						uc001ndn.3																			1	Substitution - Missense(1)		lung(1)	skin(2)|upper_aerodigestive_tract(1)|ovary(1)	4						c.(3238-3240)ATG>GTG		low density lipoprotein receptor-related protein							250.0	186.0	208.0					11																	46898789		2201	4299	6500	SO:0001583	missense	4038				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity	g.chr11:46898789T>C	AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.3238A>G	11.37:g.46898789T>C	ENSP00000367888:p.Met1080Val						p.M1080V	NM_002334	NP_002325	O75096	LRP4_HUMAN		Lung(87;0.159)	23	3384	-			1080			Extracellular (Potential).		B2RN39|Q4AC85|Q5KTZ5	Missense_Mutation	SNP	ENST00000378623.1	37	c.3238A>G	CCDS31478.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.502058	0.44455	.	.	ENSG00000134569	ENST00000378623	D	0.90620	-2.7	6.17	6.17	0.99709	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.82421	0.5033	N	0.20530	0.585	0.58432	D	0.999999	B	0.15141	0.012	B	0.14023	0.01	T	0.76895	-0.2790	10	0.02654	T	1	.	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1080	O75096	LRP4_HUMAN	V	1080	ENSP00000367888:M1080V	ENSP00000367888:M1080V	M	-	1	0	LRP4	46855365	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.350000	0.79385	2.371000	0.80710	0.533000	0.62120	ATG		PASS	0.498	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391133.1	NM_002334		20	115	20	115	---	---	---	---
NUP160	23279	broad.mit.edu	37	11	47809787	47809787	+	Silent	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:47809787G>C	ENST00000378460.2	-	31	3739	c.3693C>G	c.(3691-3693)ctC>ctG	p.L1231L	NUP160_ENST00000530326.1_Silent_p.L1117L	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1231					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)	p.L1231L(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAGTCTGACAGAGTGATATGG	0.378																																						uc001ngm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(3691-3693)CTC>CTG		nucleoporin 160kDa							61.0	58.0	59.0					11																	47809787		2201	4298	6499	SO:0001819	synonymous_variant	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47809787G>C	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.3693C>G	11.37:g.47809787G>C						NUP160_uc009ylw.2_RNA	p.L1231L	NM_015231	NP_056046	Q12769	NU160_HUMAN			31	3778	-			1231					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	ENST00000378460.2	37	c.3693C>G	CCDS31484.1																																																																																				PASS	0.378	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		8	32	8	32	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55110996	55110996	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:55110996G>T	ENST00000314721.2	+	1	370	c.320G>T	c.(319-321)gGt>gTt	p.G107V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G107V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTACTTGGTGGTGCAGAGGTC	0.448																																						uc010rie.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(319-321)GGT>GTT		olfactory receptor, family 4, subfamily A,							198.0	185.0	189.0					11																	55110996		2201	4296	6497	SO:0001583	missense	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55110996G>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.320G>T	11.37:g.55110996G>T	ENSP00000325128:p.Gly107Val						p.G107V	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	320	+			107			Helical; Name=3; (Potential).		Q6IFL3	Missense_Mutation	SNP	ENST00000314721.2	37	c.320G>T	CCDS31499.1	.	.	.	.	.	.	.	.	.	.	g	8.243	0.807297	0.16467	.	.	ENSG00000181961	ENST00000314721	T	0.09817	2.94	2.57	2.57	0.30868	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.13329	0.0323	L	0.50333	1.59	0.09310	N	0.999992	P	0.49783	0.928	P	0.47705	0.555	T	0.13656	-1.0501	9	0.52906	T	0.07	.	5.3703	0.16136	0.165:0.0:0.835:0.0	.	107	Q8NH70	O4A16_HUMAN	V	107	ENSP00000325128:G107V	ENSP00000325128:G107V	G	+	2	0	OR4A16	54867572	0.000000	0.05858	0.707000	0.30419	0.053000	0.15095	-0.194000	0.09559	1.445000	0.47624	0.423000	0.28283	GGT		PASS	0.448	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		18	283	18	283	---	---	---	---
OR5L1	219437	broad.mit.edu	37	11	55579266	55579266	+	Silent	SNP	G	G	T	rs550295034		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:55579266G>T	ENST00000333973.2	+	1	413	c.324G>T	c.(322-324)gtG>gtT	p.V108V		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V108V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GCACTTGTGTGGTCACTGAGG	0.468																																						uc001nhw.1																			1	Substitution - coding silent(1)		lung(1)	skin(3)|ovary(2)	5						c.(322-324)GTG>GTT		olfactory receptor, family 5, subfamily L,							231.0	200.0	211.0					11																	55579266		2200	4296	6496	SO:0001819	synonymous_variant	219437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55579266G>T	AB065780	CCDS31509.1	11q11	2012-08-09			ENSG00000186117	ENSG00000186117		"""GPCR / Class A : Olfactory receptors"""	8350	protein-coding gene	gene with protein product							Standard	NM_001004738		Approved	OST262	uc001nhw.1	Q8NGL2	OTTHUMG00000166810	ENST00000333973.2:c.324G>T	11.37:g.55579266G>T							p.V108V	NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN			1	324	+		all_epithelial(135;0.208)	108			Helical; Name=3; (Potential).		B2RNK6|Q6IFD0	Silent	SNP	ENST00000333973.2	37	c.324G>T	CCDS31509.1																																																																																				PASS	0.468	OR5L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391514.1	NM_001004738		30	156	30	156	---	---	---	---
OR5F1	338674	broad.mit.edu	37	11	55761313	55761313	+	Missense_Mutation	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:55761313A>T	ENST00000278409.1	-	1	788	c.789T>A	c.(787-789)agT>agA	p.S263R		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	263					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S263R(1)		endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGTAGCTGGAACTAGGTCTCA	0.507																																						uc010riv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(787-789)AGT>AGA		olfactory receptor, family 5, subfamily F,							95.0	93.0	94.0					11																	55761313		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761313A>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.789T>A	11.37:g.55761313A>T	ENSP00000278409:p.Ser263Arg						p.S263R	NM_003697	NP_003688	O95221	OR5F1_HUMAN			1	789	-	Esophageal squamous(21;0.00448)		263			Extracellular (Potential).		Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.789T>A	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	A	1.868	-0.460865	0.04508	.	.	ENSG00000149133	ENST00000278409	T	0.00137	8.68	2.99	-5.98	0.02220	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	L	0.41356	1.27	0.09310	N	1	B	0.15719	0.014	B	0.19666	0.026	T	0.33085	-0.9882	9	0.66056	D	0.02	.	0.7579	0.01002	0.177:0.2697:0.2861:0.2672	.	263	O95221	OR5F1_HUMAN	R	263	ENSP00000278409:S263R	ENSP00000278409:S263R	S	-	3	2	OR5F1	55517889	0.000000	0.05858	0.171000	0.22900	0.121000	0.20230	-5.006000	0.00160	-0.860000	0.04099	-1.536000	0.00914	AGT		PASS	0.507	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		23	112	23	112	---	---	---	---
OR9G1	390174	broad.mit.edu	37	11	56468503	56468503	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:56468503C>A	ENST00000312153.1	+	1	640	c.640C>A	c.(640-642)Ctg>Atg	p.L214M		NM_001005213.1	NP_001005213.1	Q8NH87	OR9G1_HUMAN	olfactory receptor, family 9, subfamily G, member 1	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L214M(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGTGCTCATCCTGGCCTCCTA	0.552																																						uc010rjn.1																			1	Substitution - Missense(1)		lung(1)		0						c.(640-642)CTG>ATG		olfactory receptor, family 9, subfamily G,							168.0	168.0	168.0					11																	56468503		2201	4296	6497	SO:0001583	missense	504191				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56468503C>A	AB065500	CCDS31536.1	11q11	2012-08-09			ENSG00000174914	ENSG00000174914		"""GPCR / Class A : Olfactory receptors"""	15319	protein-coding gene	gene with protein product				OR9G5			Standard	NM_001005213		Approved			Q8NH87	OTTHUMG00000167112	ENST00000312153.1:c.640C>A	11.37:g.56468503C>A	ENSP00000309012:p.Leu214Met						p.L214M	NM_001013358	NP_001013376	P0C7N8	OR9G9_HUMAN			1	640	+			214			Helical; Name=5; (Potential).		Q6IEU9|Q8NGQ0	Missense_Mutation	SNP	ENST00000312153.1	37	c.640C>A	CCDS31536.1	.	.	.	.	.	.	.	.	.	.	C	9.969	1.224923	0.22457	.	.	ENSG00000174914	ENST00000312153	T	0.00269	8.37	4.52	4.52	0.55395	GPCR, rhodopsin-like superfamily (1);	0.162995	0.29286	N	0.012592	T	0.00412	0.0013	M	0.63169	1.94	0.23113	N	0.998276	D	0.63046	0.992	D	0.72075	0.976	T	0.51348	-0.8717	10	0.66056	D	0.02	-9.5201	7.4531	0.27250	0.1684:0.7436:0.0:0.088	.	214	Q8NH87	OR9G1_HUMAN	M	214	ENSP00000309012:L214M	ENSP00000309012:L214M	L	+	1	2	OR9G1	56225079	0.000000	0.05858	0.955000	0.39395	0.097000	0.18754	-0.991000	0.03728	2.480000	0.83734	0.573000	0.79308	CTG		PASS	0.552	OR9G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393253.1	NM_001005213		13	235	13	235	---	---	---	---
YPEL4	219539	broad.mit.edu	37	11	57413795	57413795	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:57413795C>T	ENST00000524669.1	-	4	2991	c.269G>A	c.(268-270)tGc>tAc	p.C90Y	AP000662.4_ENST00000530595.1_RNA|YPEL4_ENST00000531442.1_5'Flank|YPEL4_ENST00000534711.1_Missense_Mutation_p.C90Y|YPEL4_ENST00000544993.1_Missense_Mutation_p.C90Y|YPEL4_ENST00000300022.3_Missense_Mutation_p.C90Y			Q96NS1	YPEL4_HUMAN	yippee-like 4 (Drosophila)	90						nucleus (GO:0005634)		p.C90Y(1)		lung(2)|skin(1)	3						TGTGGTTTTGCAGCTCTCACA	0.557																																						uc001nkv.3																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)TGC>TAC		yippee-like 4							90.0	82.0	85.0					11																	57413795		2201	4296	6497	SO:0001583	missense	219539					nucleolus		g.chr11:57413795C>T	AK054775	CCDS7963.1	11q12	2008-02-05				ENSG00000166793			18328	protein-coding gene	gene with protein product		609725					Standard	NM_145008		Approved	FLJ30213	uc001nkv.4	Q96NS1		ENST00000524669.1:c.269G>A	11.37:g.57413795C>T	ENSP00000432648:p.Cys90Tyr					uc001nkt.1_Intron|YPEL4_uc009ymk.2_RNA	p.C90Y	NM_145008	NP_659445	Q96NS1	YPEL4_HUMAN			4	713	-			90					B3KW92|Q2M3U7|Q65Z98	Missense_Mutation	SNP	ENST00000524669.1	37	c.269G>A	CCDS7963.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.942830	0.92526	.	.	ENSG00000166793	ENST00000524669;ENST00000300022;ENST00000544993;ENST00000534711	.	.	.	5.33	5.33	0.75918	.	0.000000	0.64402	D	0.000001	D	0.90191	0.6934	H	0.97540	4.025	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.93596	0.6926	9	0.87932	D	0	-12.3792	18.6462	0.91410	0.0:1.0:0.0:0.0	.	90	Q96NS1	YPEL4_HUMAN	Y	90	.	ENSP00000300022:C90Y	C	-	2	0	YPEL4	57170371	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.578000	0.82498	2.502000	0.84385	0.555000	0.69702	TGC		PASS	0.557	YPEL4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393370.1	NM_145008		4	96	4	96	---	---	---	---
MEN1	4221	broad.mit.edu	37	11	64577259	64577259	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:64577259C>A	ENST00000337652.1	-	2	826	c.323G>T	c.(322-324)cGa>cTa	p.R108L	MEN1_ENST00000312049.6_Missense_Mutation_p.R108L|MEN1_ENST00000394376.1_Missense_Mutation_p.R108L|MEN1_ENST00000394374.2_Missense_Mutation_p.R108L|MEN1_ENST00000443283.1_Missense_Mutation_p.R108L|MEN1_ENST00000377316.2_Missense_Mutation_p.R108L|MEN1_ENST00000377326.3_Missense_Mutation_p.R108L|MEN1_ENST00000315422.4_Missense_Mutation_p.R108L|MEN1_ENST00000377321.1_Missense_Mutation_p.R108L|MEN1_ENST00000377313.1_Missense_Mutation_p.R108L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	108					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)	p.R108L(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						ACCCCCTTCTCGAGGATAGAG	0.612			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)	uc001obj.2			yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	D|Mis|N|F|S	multiple endocrine neoplasia type 1 gene			E		parathyroid adenoma|pituitary adenoma|pancreatic islet cell|carcinoid	parathyroid tumors|Pancreatic neuroendocrine tumors		1	Substitution - Missense(1)	p.R108*(2)	lung(1)	parathyroid(105)|pancreas(64)|gastrointestinal_tract_(site_indeterminate)(15)|small_intestine(13)|lung(9)|pituitary(7)|NS(7)|adrenal_gland(5)|soft_tissue(4)|central_nervous_system(4)|thymus(2)|stomach(1)|retroperitoneum(1)|skin(1)	238						c.(322-324)CGA>CTA		menin isoform 1							46.0	49.0	48.0					11																	64577259		2201	4297	6498	SO:0001583	missense	4221	Hyperparathyroidism_Familial_Isolated|Multiple_Endocrine_Neoplasia_type_1	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	g.chr11:64577259C>A	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.323G>T	11.37:g.64577259C>A	ENSP00000337088:p.Arg108Leu					MEN1_uc001obk.2_Missense_Mutation_p.R108L|MEN1_uc001obl.2_Missense_Mutation_p.R108L|MEN1_uc001obm.2_Missense_Mutation_p.R108L|MEN1_uc001obn.2_Missense_Mutation_p.R108L|MEN1_uc001obo.2_Missense_Mutation_p.R108L|MEN1_uc001obp.2_Missense_Mutation_p.R108L|MEN1_uc001obq.2_Missense_Mutation_p.R108L|MEN1_uc001obr.2_Missense_Mutation_p.R108L	p.R108L	NM_130800	NP_570712	O00255	MEN1_HUMAN			2	396	-			108					A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	c.323G>T	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.468628	0.63625	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626;ENST00000429702;ENST00000424912	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99436	-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9;-5.9	5.02	5.02	0.67125	.	0.128949	0.48286	D	0.000190	D	0.98207	0.9407	L	0.36672	1.1	0.45139	D	0.998156	P;P;P	0.46064	0.526;0.872;0.582	B;B;B	0.43360	0.173;0.417;0.195	D	0.99019	1.0817	10	0.49607	T	0.09	-15.0517	16.2438	0.82431	0.0:1.0:0.0:0.0	.	108;108;108	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	L	108	ENSP00000366533:R108L;ENSP00000366538:R108L;ENSP00000366543:R108L;ENSP00000308975:R108L;ENSP00000323747:R108L;ENSP00000337088:R108L;ENSP00000377901:R108L;ENSP00000377899:R108L;ENSP00000396940:R108L;ENSP00000366530:R108L;ENSP00000413944:R108L;ENSP00000394933:R108L;ENSP00000411218:R108L;ENSP00000402752:R108L;ENSP00000388016:R108L	ENSP00000308975:R108L	R	-	2	0	MEN1	64333835	0.972000	0.33761	0.991000	0.47740	0.711000	0.40976	3.721000	0.54941	2.503000	0.84419	0.561000	0.74099	CGA		PASS	0.612	MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1			51	28	51	28	---	---	---	---
C11orf24	53838	broad.mit.edu	37	11	68029630	68029630	+	Nonsense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:68029630G>C	ENST00000304271.6	-	4	1235	c.833C>G	c.(832-834)tCa>tGa	p.S278*	C11orf24_ENST00000533310.1_Intron|C11orf24_ENST00000530166.1_5'Flank	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	278	Pro-rich.					Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.S278*(1)		endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						GGTTGTGTTTGAGGGCATGGG	0.597																																					NSCLC(21;855 905 4198 36694)	uc001onr.3																			1	Substitution - Nonsense(1)		lung(1)		0						c.(832-834)TCA>TGA		hypothetical protein LOC53838 precursor							82.0	87.0	85.0					11																	68029630		2200	4294	6494	SO:0001587	stop_gained	53838					integral to membrane		g.chr11:68029630G>C	AF264781	CCDS8180.1, CCDS73338.1	11q13.2	2014-01-08			ENSG00000171067	ENSG00000171067			1174	protein-coding gene	gene with protein product		610880				11401438, 24312644	Standard	NM_022338		Approved	DM4E3	uc001onr.4	Q96F05	OTTHUMG00000167478	ENST00000304271.6:c.833C>G	11.37:g.68029630G>C	ENSP00000307264:p.Ser278*					C11orf24_uc001ons.2_Nonsense_Mutation_p.S278*	p.S278*	NM_022338	NP_071733	Q96F05	CK024_HUMAN			4	1275	-			278			Extracellular (Potential).|Pro-rich.		Q9H2K4	Nonsense_Mutation	SNP	ENST00000304271.6	37	c.833C>G	CCDS8180.1	.	.	.	.	.	.	.	.	.	.	G	36	5.751941	0.96890	.	.	ENSG00000171067	ENST00000304271	.	.	.	4.5	-1.06	0.10002	.	1.167820	0.06819	N	0.791939	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	0.0532	9.2467	0.37529	0.4703:0.0:0.5297:0.0	.	.	.	.	X	278	.	ENSP00000307264:S278X	S	-	2	0	C11orf24	67786206	0.009000	0.17119	0.000000	0.03702	0.159000	0.22180	0.890000	0.28295	-0.142000	0.11354	0.289000	0.19496	TCA		PASS	0.597	C11orf24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394750.1	NM_022338		61	55	61	55	---	---	---	---
TPCN2	219931	broad.mit.edu	37	11	68851475	68851475	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:68851475G>A	ENST00000294309.3	+	19	1853	c.1752G>A	c.(1750-1752)ggG>ggA	p.G584G	TPCN2_ENST00000442692.2_3'UTR|MIR3164_ENST00000581178.1_RNA|TPCN2_ENST00000542467.1_Intron	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	584					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)	p.G584G(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CGTTTGGCGGGATCCTGGTGG	0.657																																						uc001oos.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(1750-1752)GGG>GGA		two pore segment channel 2							183.0	140.0	155.0					11																	68851475		2200	4294	6494	SO:0001819	synonymous_variant	219931				cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity	g.chr11:68851475G>A	AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.1752G>A	11.37:g.68851475G>A						TPCN2_uc010rqg.1_Intron|TPCN2_uc001oot.2_RNA	p.G584G	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		19	1868	+			584			Helical; Name=S5 of repeat II; (Potential).		Q9NT82	Silent	SNP	ENST00000294309.3	37	c.1752G>A	CCDS8189.1																																																																																				PASS	0.657	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396878.2	NM_139075		28	48	28	48	---	---	---	---
NOX4	50507	broad.mit.edu	37	11	89165992	89165992	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:89165992C>A	ENST00000263317.4	-	7	746	c.508G>T	c.(508-510)Gtg>Ttg	p.V170L	NOX4_ENST00000528341.1_Missense_Mutation_p.V145L|NOX4_ENST00000542487.1_Missense_Mutation_p.V146L|NOX4_ENST00000532825.1_Missense_Mutation_p.V146L|NOX4_ENST00000525196.1_Missense_Mutation_p.V170L|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.V191L|NOX4_ENST00000424319.1_Missense_Mutation_p.V146L|NOX4_ENST00000343727.5_Missense_Mutation_p.V146L|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000527626.1_Missense_Mutation_p.V4L|NOX4_ENST00000535633.1_Missense_Mutation_p.V146L|NOX4_ENST00000534731.1_Missense_Mutation_p.V170L|NOX4_ENST00000527956.1_Missense_Mutation_p.V146L			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	170	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)	p.V170L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGGAATAGCACCACCACCATG	0.338																																						uc001pct.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(508-510)GTG>TTG		NADPH oxidase 4 isoform a							90.0	84.0	86.0					11																	89165992		2201	4299	6500	SO:0001583	missense	50507				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	g.chr11:89165992C>A	AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.508G>T	11.37:g.89165992C>A	ENSP00000263317:p.Val170Leu					NOX4_uc009yvr.2_Missense_Mutation_p.V145L|NOX4_uc001pcu.2_Missense_Mutation_p.V96L|NOX4_uc001pcw.2_Intron|NOX4_uc001pcx.2_Intron|NOX4_uc001pcv.2_Missense_Mutation_p.V170L|NOX4_uc009yvo.2_RNA|NOX4_uc010rtu.1_Missense_Mutation_p.V4L|NOX4_uc009yvp.2_Missense_Mutation_p.V170L|NOX4_uc010rtv.1_Missense_Mutation_p.V146L|NOX4_uc009yvq.2_Missense_Mutation_p.V146L|NOX4_uc009yvs.1_RNA	p.V170L	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN			7	747	-		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)	170			Ferric oxidoreductase.|Helical; (Potential).		A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Missense_Mutation	SNP	ENST00000263317.4	37	c.508G>T	CCDS8285.1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.728847	0.48833	.	.	ENSG00000086991	ENST00000424319;ENST00000535633;ENST00000343727;ENST00000534731;ENST00000525196;ENST00000263317;ENST00000532825;ENST00000527956;ENST00000542487;ENST00000527626;ENST00000528341;ENST00000413594	D;D;D;D;D;D;D;D;D;D;D;D	0.94000	-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-2.75;-3.33;-2.75;-2.75	5.65	4.74	0.60224	Flavoprotein transmembrane component (1);	0.397131	0.26753	N	0.022672	D	0.87277	0.6137	N	0.05554	-0.025	0.34425	D	0.697857	B;B;B;P;B;B	0.47034	0.002;0.002;0.008;0.889;0.008;0.003	B;B;B;P;B;B	0.48704	0.013;0.004;0.01;0.587;0.058;0.017	D	0.88273	0.2931	9	.	.	.	-4.9995	10.3033	0.43665	0.0:0.9094:0.0:0.0906	.	146;4;145;170;170;170	E9PMY6;E9PR43;E9PPP2;E9PI95;Q9NPH5-6;Q9NPH5	.;.;.;.;.;NOX4_HUMAN	L	146;146;146;170;170;170;146;146;146;4;145;191	ENSP00000412446:V146L;ENSP00000440172:V146L;ENSP00000344747:V146L;ENSP00000436892:V170L;ENSP00000436716:V170L;ENSP00000263317:V170L;ENSP00000434924:V146L;ENSP00000433797:V146L;ENSP00000439373:V146L;ENSP00000436093:V4L;ENSP00000436970:V145L;ENSP00000405705:V191L	.	V	-	1	0	NOX4	88805640	1.000000	0.71417	0.627000	0.29227	0.990000	0.78478	2.573000	0.46007	1.386000	0.46466	0.655000	0.94253	GTG		PASS	0.338	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394054.1	NM_016931		13	10	13	10	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92533301	92533301	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:92533301G>A	ENST00000298047.6	+	9	7139	c.7122G>A	c.(7120-7122)ctG>ctA	p.L2374L	FAT3_ENST00000409404.2_Silent_p.L2374L|FAT3_ENST00000525166.1_Silent_p.L2224L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2374	Cadherin 21. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L2374L(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCCCATCACTGAGCAGTGAGG	0.423										TCGA Ovarian(4;0.039)																												uc001pdj.3																			2	Substitution - coding silent(2)		lung(2)	ovary(4)|pancreas(1)	5						c.(7120-7122)CTG>CTA		FAT tumor suppressor homolog 3							116.0	117.0	116.0					11																	92533301		1927	4130	6057	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92533301G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.7122G>A	11.37:g.92533301G>A		TCGA Ovarian(4;0.039)					p.L2374L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			9	7139	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	2374			Cadherin 21.|Extracellular (Potential).		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.7122G>A																																																																																					PASS	0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		23	192	23	192	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99690344	99690344	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:99690344C>G	ENST00000524871.1	+	4	415	c.125C>G	c.(124-126)tCt>tGt	p.S42C	CNTN5_ENST00000279463.3_Missense_Mutation_p.S42C|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000528682.1_Missense_Mutation_p.S42C|CNTN5_ENST00000527185.1_Missense_Mutation_p.S42C	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	42					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.S42C(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AAGAGTTCATCTTCATCTCTC	0.403																																						uc001pga.2																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(124-126)TCT>TGT		contactin 5 isoform long							123.0	124.0	124.0					11																	99690344		1896	4127	6023	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690344C>G	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.125C>G	11.37:g.99690344C>G	ENSP00000435637:p.Ser42Cys					CNTN5_uc009ywv.1_Missense_Mutation_p.S42C|CNTN5_uc001pfz.2_Missense_Mutation_p.S42C|CNTN5_uc001pgb.2_Intron	p.S42C	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	4	464	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	42					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.125C>G	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	C	14.44	2.536525	0.45176	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.57595	0.39;0.45;0.45;0.45	5.06	4.15	0.48705	.	0.590250	0.16229	N	0.223677	T	0.37732	0.1014	N	0.14661	0.345	0.36133	D	0.846231	B;B	0.32918	0.39;0.39	B;B	0.33196	0.159;0.159	T	0.51679	-0.8675	10	0.62326	D	0.03	.	13.4182	0.60980	0.0:0.923:0.0:0.077	.	42;42	E9PKE8;O94779	.;CNTN5_HUMAN	C	42	ENSP00000433575:S42C;ENSP00000436185:S42C;ENSP00000435637:S42C;ENSP00000279463:S42C	ENSP00000279463:S42C	S	+	2	0	CNTN5	99195554	0.822000	0.29219	0.332000	0.25469	0.868000	0.49771	2.661000	0.46758	1.459000	0.47892	0.650000	0.86243	TCT		PASS	0.403	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		11	178	11	178	---	---	---	---
CNTN5	53942	broad.mit.edu	37	11	99944898	99944898	+	Silent	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:99944898G>T	ENST00000524871.1	+	13	1742	c.1452G>T	c.(1450-1452)ctG>ctT	p.L484L	CNTN5_ENST00000279463.3_Silent_p.L484L|CNTN5_ENST00000418526.2_Silent_p.L410L|CNTN5_ENST00000528682.1_Silent_p.L484L|CNTN5_ENST00000527185.1_Silent_p.L484L	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	484	Ig-like C2-type 5.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)		p.L484L(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CTTTTGCACTGAATCAACTGA	0.373																																						uc001pga.2																			2	Substitution - coding silent(2)		lung(2)	skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(1450-1452)CTG>CTT		contactin 5 isoform long							52.0	51.0	51.0					11																	99944898		1839	4086	5925	SO:0001819	synonymous_variant	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99944898G>T	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.1452G>T	11.37:g.99944898G>T						CNTN5_uc009ywv.1_Silent_p.L484L|CNTN5_uc001pfz.2_Silent_p.L484L|CNTN5_uc001pgb.2_Silent_p.L410L	p.L484L	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	13	1791	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	484			Ig-like C2-type 5.		A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Silent	SNP	ENST00000524871.1	37	c.1452G>T	CCDS53696.1																																																																																				PASS	0.373	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		31	23	31	23	---	---	---	---
MMP13	4322	broad.mit.edu	37	11	102825188	102825188	+	Splice_Site	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:102825188C>A	ENST00000260302.3	-	3	538	c.510G>T	c.(508-510)aaG>aaT	p.K170N	MMP13_ENST00000340273.4_Splice_Site_p.K170N	NM_002427.3	NP_002418.1	P45452	MMP13_HUMAN	matrix metallopeptidase 13 (collagenase 3)	170					bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|cartilage development (GO:0051216)|cellular protein metabolic process (GO:0044267)|collagen catabolic process (GO:0030574)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.K170N(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)	Marimastat(DB00786)	CATCATTACCCTTAATTCCAA	0.294																																						uc001phl.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(508-510)AAG>AAT		matrix metalloproteinase 13 preproprotein							44.0	44.0	44.0					11																	102825188		2202	4299	6501	SO:0001630	splice_region_variant	4322				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	g.chr11:102825188C>A	X75308	CCDS8324.1	11q22.3	2014-01-30	2005-08-08		ENSG00000137745	ENSG00000137745		"""Endogenous ligands"""	7159	protein-coding gene	gene with protein product	"""collagenase 3"""	600108	"""matrix metalloproteinase 13 (collagenase 3)"""			8207000	Standard	NM_002427		Approved	CLG3	uc001phl.3	P45452	OTTHUMG00000165850	ENST00000260302.3:c.511+1G>T	11.37:g.102825188C>A							p.K170N	NM_002427	NP_002418	P45452	MMP13_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.0144)	3	538	-		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	170					A8K846|B2RCZ3|Q6NWN6	Missense_Mutation	SNP	ENST00000260302.3	37	c.510G>T	CCDS8324.1	.	.	.	.	.	.	.	.	.	.	C	7.576	0.667738	0.14710	.	.	ENSG00000137745	ENST00000260302;ENST00000546012;ENST00000340273	T;T	0.21361	2.01;2.01	5.9	4.78	0.61160	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.48286	D	0.000192	T	0.18759	0.0450	L	0.38953	1.18	0.53688	D	0.999975	B	0.26002	0.139	B	0.29353	0.101	T	0.02950	-1.1090	10	0.46703	T	0.11	.	11.2796	0.49186	0.0:0.0726:0.0:0.9274	.	170	P45452	MMP13_HUMAN	N	170	ENSP00000260302:K170N;ENSP00000339672:K170N	ENSP00000260302:K170N	K	-	3	2	MMP13	102330398	1.000000	0.71417	1.000000	0.80357	0.308000	0.27856	3.277000	0.51654	1.069000	0.40788	-0.469000	0.05056	AAG		PASS	0.294	MMP13-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000386648.1	NM_002427	Missense_Mutation	18	17	18	17	---	---	---	---
NPAT	4863	broad.mit.edu	37	11	108043625	108043625	+	Missense_Mutation	SNP	C	C	T	rs572830572	byFrequency	TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:108043625C>T	ENST00000278612.8	-	13	2191	c.2086G>A	c.(2086-2088)Gaa>Aaa	p.E696K	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	696					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|Gemini of coiled bodies (GO:0097504)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E696K(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TGACTGTTTTCTACAGGAGTG	0.418																																						uc001pjz.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(2086-2088)GAA>AAA		nuclear protein,  ataxia-telangiectasia locus							75.0	67.0	70.0					11																	108043625		1874	4102	5976	SO:0001583	missense	4863				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	g.chr11:108043625C>T	X97186	CCDS41710.1	11q22-q23	2008-02-01			ENSG00000149308	ENSG00000149308			7896	protein-coding gene	gene with protein product		601448				9205109	Standard	NM_002519		Approved	E14	uc001pjz.4	Q14207	OTTHUMG00000166385	ENST00000278612.8:c.2086G>A	11.37:g.108043625C>T	ENSP00000278612:p.Glu696Lys					NPAT_uc010rvv.1_5'Flank|NPAT_uc001pka.2_Missense_Mutation_p.E491K	p.E696K	NM_002519	NP_002510	Q14207	NPAT_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)	13	2188	-		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	696					A8K1V5|A8K6M2|Q13632|Q14967|Q16580|Q86W55|Q8IWE9	Missense_Mutation	SNP	ENST00000278612.8	37	c.2086G>A	CCDS41710.1	.	.	.	.	.	.	.	.	.	.	C	9.461	1.093016	0.20471	.	.	ENSG00000149308	ENST00000278612	T	0.04454	3.62	5.38	4.43	0.53597	.	0.596334	0.17452	N	0.173745	T	0.04998	0.0134	L	0.36672	1.1	0.27573	N	0.949821	B;B	0.17268	0.021;0.021	B;B	0.16722	0.016;0.016	T	0.29610	-1.0006	10	0.26408	T	0.33	-14.646	10.4456	0.44493	0.0:0.8984:0.0:0.1016	.	696;696	B9EG70;Q14207	.;NPAT_HUMAN	K	696	ENSP00000278612:E696K	ENSP00000278612:E696K	E	-	1	0	NPAT	107548835	0.991000	0.36638	0.630000	0.29268	0.275000	0.26752	2.710000	0.47169	1.385000	0.46445	0.655000	0.94253	GAA		PASS	0.418	NPAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389506.2	NM_002519		38	32	38	32	---	---	---	---
EXPH5	23086	broad.mit.edu	37	11	108381581	108381581	+	Missense_Mutation	SNP	C	C	G	rs146274272		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:108381581C>G	ENST00000265843.4	-	6	4763	c.4653G>C	c.(4651-4653)gaG>gaC	p.E1551D	EXPH5_ENST00000428840.1_Missense_Mutation_p.E1475D|EXPH5_ENST00000443411.1_Missense_Mutation_p.E1363D|EXPH5_ENST00000524840.1_5'Flank|EXPH5_ENST00000525344.1_Missense_Mutation_p.E1544D	NM_015065.2	NP_055880	Q8NEV8	EXPH5_HUMAN	exophilin 5	1551					intracellular protein transport (GO:0006886)|keratinocyte development (GO:0003334)|multivesicular body sorting pathway (GO:0071985)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	endosome (GO:0005768)	Rab GTPase binding (GO:0017137)	p.E1551D(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCTTCCTGCTCTCTGTCATAT	0.433																																						uc001pkk.2																			1	Substitution - Missense(1)		lung(1)	skin(3)|ovary(2)	5						c.(4651-4653)GAG>GAC		exophilin 5 isoform a							98.0	92.0	94.0					11																	108381581		2201	4298	6499	SO:0001583	missense	23086				intracellular protein transport		Rab GTPase binding	g.chr11:108381581C>G		CCDS8341.1	11q22.3	2008-02-05			ENSG00000110723	ENSG00000110723			30578	protein-coding gene	gene with protein product	"""synaptotagmin-like homologue lacking C2 domains b"""	612878				9734811, 11773082	Standard	NM_015065		Approved	SLAC2-B	uc001pkk.3	Q8NEV8	OTTHUMG00000166536	ENST00000265843.4:c.4653G>C	11.37:g.108381581C>G	ENSP00000265843:p.Glu1551Asp					EXPH5_uc010rvy.1_Missense_Mutation_p.E1363D|EXPH5_uc010rvz.1_Missense_Mutation_p.E1395D|EXPH5_uc010rwa.1_Missense_Mutation_p.E1475D	p.E1551D	NM_015065	NP_055880	Q8NEV8	EXPH5_HUMAN		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)	6	4764	-		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)	1551					Q2KHM1|Q9Y4D6	Missense_Mutation	SNP	ENST00000265843.4	37	c.4653G>C	CCDS8341.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.161706	0.38119	.	.	ENSG00000110723	ENST00000265843;ENST00000428840;ENST00000443411;ENST00000525344;ENST00000526312	T;T;T;T;T	0.03413	4.16;4.09;3.94;4.16;4.0	5.74	0.5	0.16919	.	0.655691	0.14659	N	0.306041	T	0.03871	0.0109	M	0.67953	2.075	0.09310	N	1	B	0.17268	0.021	B	0.15484	0.013	T	0.44620	-0.9316	10	0.20519	T	0.43	-2.2349	1.5353	0.02544	0.1533:0.4229:0.2097:0.2141	.	1551	Q8NEV8	EXPH5_HUMAN	D	1551;1475;1363;1544;1475	ENSP00000265843:E1551D;ENSP00000391966:E1475D;ENSP00000411390:E1363D;ENSP00000432546:E1544D;ENSP00000432683:E1475D	ENSP00000265843:E1551D	E	-	3	2	EXPH5	107886791	0.000000	0.05858	0.028000	0.17463	0.525000	0.34531	-0.573000	0.05874	0.068000	0.16574	-0.176000	0.13171	GAG		PASS	0.433	EXPH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390279.1	NM_015065		21	82	21	82	---	---	---	---
SIK3	23387	broad.mit.edu	37	11	116719898	116719898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:116719898C>A	ENST00000292055.4	-	21	3474	c.3439G>T	c.(3439-3441)Gag>Tag	p.E1147*	AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000446921.2_Nonsense_Mutation_p.E1145*|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_Nonsense_Mutation_p.E986*|SIK3_ENST00000542607.1_Nonsense_Mutation_p.E1087*|SIK3_ENST00000375300.1_Nonsense_Mutation_p.E1205*|SIK3_ENST00000375288.1_Nonsense_Mutation_p.E482*	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1147					protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.E1253*(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						CTGTGGTGCTCATGGACGGAG	0.597																																						uc001ppy.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						c.(3439-3441)GAG>TAG		serine/threonine-protein kinase QSK							139.0	110.0	120.0					11																	116719898		2201	4294	6495	SO:0001587	stop_gained	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116719898C>A	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.3439G>T	11.37:g.116719898C>A	ENSP00000292055:p.Glu1147*					SIK3_uc001ppz.2_Nonsense_Mutation_p.E986*|SIK3_uc001pqa.2_Nonsense_Mutation_p.E1087*|SIK3_uc001ppw.2_Nonsense_Mutation_p.E504*|SIK3_uc001ppx.2_Nonsense_Mutation_p.E525*	p.E1147*	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN			21	3475	-			1147					A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	Nonsense_Mutation	SNP	ENST00000292055.4	37	c.3439G>T	CCDS8379.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	44|44	10.596318|10.596318	0.99434|0.99434	.|.	.|.	ENSG00000160584|ENSG00000160584	ENST00000375300;ENST00000292055;ENST00000375288;ENST00000542607;ENST00000434315|ENST00000445177;ENST00000446921	.|.	.|.	.|.	5.26|5.26	4.29|4.29	0.51040|0.51040	.|.	0.000000|.	0.41823|.	U|.	0.000814|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.72032|.	D|.	0.01|.	.|.	14.7444|14.7444	0.69480|0.69480	0.0:0.7424:0.2576:0.0|0.0:0.7424:0.2576:0.0	.|.	.|.	.|.	.|.	X|L	1205;1147;482;1087;986|1246;1109	.|.	ENSP00000292055:E1147X|.	E|X	-|-	1|2	0|2	SIK3|SIK3	116225108|116225108	0.987000|0.987000	0.35691|0.35691	0.933000|0.933000	0.37362|0.37362	0.273000|0.273000	0.26683|0.26683	2.728000|2.728000	0.47319|0.47319	2.462000|2.462000	0.83206|0.83206	0.557000|0.557000	0.71058|0.71058	GAG|TGA		PASS	0.597	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_025164		20	54	20	54	---	---	---	---
OR10G4	390264	broad.mit.edu	37	11	123886831	123886831	+	Missense_Mutation	SNP	C	C	G	rs149568158		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:123886831C>G	ENST00000320891.4	+	1	550	c.550C>G	c.(550-552)Ctg>Gtg	p.L184V		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	184						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L184V(1)|p.L184L(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACCGCCCATCCTGAAACTGGC	0.532																																						uc010sac.1																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.L184L(1)	lung(1)|skin(1)	skin(2)|ovary(1)|central_nervous_system(1)	4						c.(550-552)CTG>GTG		olfactory receptor, family 10, subfamily G,							204.0	168.0	180.0					11																	123886831		2201	4298	6499	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886831C>G	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.550C>G	11.37:g.123886831C>G	ENSP00000325076:p.Leu184Val						p.L184V	NM_001004462	NP_001004462	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	550	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	184			Extracellular (Potential).		Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.550C>G	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	c	9.320	1.057687	0.19907	.	.	ENSG00000254737	ENST00000320891	T	0.00304	8.19	3.33	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41294	D	0.000920	T	0.00356	0.0011	L	0.56280	1.765	0.09310	N	0.999995	P	0.52170	0.951	P	0.59546	0.859	T	0.49399	-0.8944	10	0.59425	D	0.04	.	6.7728	0.23602	0.1738:0.7265:0.0:0.0997	.	184	Q8NGN3	O10G4_HUMAN	V	184	ENSP00000325076:L184V	ENSP00000325076:L184V	L	+	1	2	OR10G4	123392041	0.011000	0.17503	0.941000	0.38009	0.111000	0.19643	0.112000	0.15479	0.750000	0.32877	0.580000	0.79431	CTG		PASS	0.532	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		167	100	167	100	---	---	---	---
OR10G7	390265	broad.mit.edu	37	11	123909463	123909463	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr11:123909463G>A	ENST00000330487.5	-	1	254	c.246C>T	c.(244-246)acC>acT	p.T82T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T82T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGGACACCAAGGTCATCAGCA	0.532																																						uc001pzq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(244-246)ACC>ACT		olfactory receptor, family 10, subfamily G,							165.0	176.0	172.0					11																	123909463		2200	4299	6499	SO:0001819	synonymous_variant	390265				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123909463G>A	AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.246C>T	11.37:g.123909463G>A							p.T82T	NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	246	-		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	82			Extracellular (Potential).		Q6IFE8	Silent	SNP	ENST00000330487.5	37	c.246C>T	CCDS31705.1																																																																																				PASS	0.532	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387271.1	NM_001004463		136	106	136	106	---	---	---	---
VWF	7450	broad.mit.edu	37	12	6103190	6103190	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:6103190G>C	ENST00000261405.5	-	37	6690	c.6436C>G	c.(6436-6438)Ctg>Gtg	p.L2146V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2146	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				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.L2146V(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)	TCAGCAAACAGTGGTAAGAGG	0.602																																						uc001qnn.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|breast(1)	12						c.(6436-6438)CTG>GTG		von Willebrand factor preproprotein	Antihemophilic Factor(DB00025)						88.0	77.0	81.0					12																	6103190		2203	4300	6503	SO:0001583	missense	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.chr12:6103190G>C		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.6436C>G	12.37:g.6103190G>C	ENSP00000261405:p.Leu2146Val					VWF_uc010set.1_Intron	p.L2146V	NM_000552	NP_000543	P04275	VWF_HUMAN			37	6686	-			2146			VWFD 4.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6436C>G	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	0.003	-2.419758	0.00188	.	.	ENSG00000110799	ENST00000261405	T	0.75938	-0.98	5.3	-3.35	0.04928	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (2);	2.295300	0.02208	N	0.062865	T	0.47948	0.1473	N	0.11364	0.135	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.48210	-0.9055	10	0.06099	T	0.92	.	3.8632	0.09005	0.1328:0.3975:0.2854:0.1843	.	2146	P04275	VWF_HUMAN	V	2146	ENSP00000261405:L2146V	ENSP00000261405:L2146V	L	-	1	2	VWF	5973451	0.000000	0.05858	0.001000	0.08648	0.032000	0.12392	-0.220000	0.09215	-0.285000	0.09089	-0.211000	0.12701	CTG		PASS	0.602	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		10	62	10	62	---	---	---	---
USP5	8078	broad.mit.edu	37	12	6965209	6965209	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:6965209G>A	ENST00000229268.8	+	4	385	c.333G>A	c.(331-333)gaG>gaA	p.E111E	USP5_ENST00000389231.5_Silent_p.E111E	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	111					positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|omega peptidase activity (GO:0008242)|ubiquitin thiolesterase activity (GO:0004221)|zinc ion binding (GO:0008270)	p.E111E(2)		breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						ACCTTAGCGAGGAGAAGTTTG	0.512																																						uc001qri.3																			2	Substitution - coding silent(2)		lung(2)	lung(2)|breast(1)|skin(1)	4						c.(331-333)GAG>GAA		ubiquitin specific peptidase 5 isoform 1							187.0	185.0	185.0					12																	6965209		2203	4300	6503	SO:0001819	synonymous_variant	8078				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr12:6965209G>A	U35116	CCDS31733.1, CCDS41743.1	12p13	2007-03-02	2005-08-08		ENSG00000111667	ENSG00000111667		"""Ubiquitin-specific peptidases"""	12628	protein-coding gene	gene with protein product		601447	"""ubiquitin specific protease 5 (isopeptidase T)"""			12838346, 8723724	Standard	NM_003481		Approved	IsoT	uc001qri.4	P45974	OTTHUMG00000169233	ENST00000229268.8:c.333G>A	12.37:g.6965209G>A						USP5_uc001qrh.3_Silent_p.E111E	p.E111E	NM_001098536	NP_001092006	P45974	UBP5_HUMAN			4	392	+			111					D3DUS7|D3DUS8|Q96J22	Silent	SNP	ENST00000229268.8	37	c.333G>A	CCDS41743.1																																																																																				PASS	0.512	USP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402982.1			67	174	67	174	---	---	---	---
SLC2A14	144195	broad.mit.edu	37	12	7982360	7982360	+	Splice_Site	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:7982360A>T	ENST00000543909.1	-	10	1342		c.e10+1		SLC2A14_ENST00000396589.2_Splice_Site|SLC2A14_ENST00000539924.1_Splice_Site|SLC2A14_ENST00000535295.1_Splice_Site|SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000340749.5_Splice_Site|SLC2A14_ENST00000542546.1_Splice_Site|SLC2A14_ENST00000431042.2_Splice_Site			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14						cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)	p.?(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		GTTCTAGAGTACCTGGGCCAC	0.438																																						uc001qtk.2																			1	Unknown(1)		lung(1)	ovary(1)	1						c.e10+1		glucose transporter 14							49.0	48.0	48.0					12																	7982360		2203	4300	6503	SO:0001630	splice_region_variant	144195				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	g.chr12:7982360A>T	AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.582+1T>A	12.37:g.7982360A>T						SLC2A14_uc001qtl.2_Splice_Site_p.Q171_splice|SLC2A14_uc001qtm.2_Splice_Site_p.Q171_splice|SLC2A14_uc010sgg.1_Splice_Site_p.Q85_splice|SLC2A14_uc001qtn.2_Splice_Site_p.Q194_splice|SLC2A14_uc001qto.2_Intron|SLC2A14_uc010sgh.1_Splice_Site_p.Q209_splice	p.Q194_splice	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN		Kidney(36;0.0883)	10	1375	-								B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Splice_Site	SNP	ENST00000543909.1	37	c.582_splice	CCDS8585.1	.	.	.	.	.	.	.	.	.	.	A	13.63	2.295050	0.40594	.	.	ENSG00000173262	ENST00000340749;ENST00000543909;ENST00000431042;ENST00000396589;ENST00000535295;ENST00000542546;ENST00000539924	.	.	.	3.41	2.26	0.28386	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.0387	0.19722	0.8664:0.0:0.1336:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC2A14	7873627	1.000000	0.71417	0.969000	0.41365	0.757000	0.42996	6.412000	0.73303	1.174000	0.42811	0.377000	0.23210	.		PASS	0.438	SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449	Intron	21	56	21	56	---	---	---	---
A2M	2	broad.mit.edu	37	12	9242563	9242563	+	Missense_Mutation	SNP	T	T	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:9242563T>C	ENST00000318602.7	-	21	2960	c.2653A>G	c.(2653-2655)Act>Gct	p.T885A		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	885					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|stem cell differentiation (GO:0048863)	blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	calcium-dependent protein binding (GO:0048306)|enzyme binding (GO:0019899)|growth factor binding (GO:0019838)|interleukin-1 binding (GO:0019966)|interleukin-8 binding (GO:0019959)|protease binding (GO:0002020)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|tumor necrosis factor binding (GO:0043120)	p.T885A(1)		breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)|Ocriplasmin(DB08888)	GGCACCTCAGTCCCACACAGC	0.428																																						uc001qvk.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(4)|skin(1)	5						c.(2653-2655)ACT>GCT		alpha-2-macroglobulin precursor	Bacitracin(DB00626)|Becaplermin(DB00102)						98.0	97.0	98.0					12																	9242563		1916	4123	6039	SO:0001583	missense	2				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding	g.chr12:9242563T>C	BX647329, X68728, M11313	CCDS44827.1	12p13.31	2010-02-24			ENSG00000175899	ENSG00000175899			7	protein-coding gene	gene with protein product		103950					Standard	XM_006719056		Approved	FWP007, S863-7, CPAMD5	uc001qvk.1	P01023	OTTHUMG00000150267	ENST00000318602.7:c.2653A>G	12.37:g.9242563T>C	ENSP00000323929:p.Thr885Ala					A2M_uc009zgk.1_Missense_Mutation_p.T735A	p.T885A	NM_000014	NP_000005	P01023	A2MG_HUMAN			21	2766	-			885					Q13677|Q59F47|Q5QTS0|Q68DN2|Q6PIY3|Q6PN97	Missense_Mutation	SNP	ENST00000318602.7	37	c.2653A>G	CCDS44827.1	.	.	.	.	.	.	.	.	.	.	T	10.09	1.254829	0.22965	.	.	ENSG00000175899	ENST00000318602;ENST00000540099	T	0.13420	2.59	5.68	1.94	0.25998	.	0.626125	0.15598	N	0.254079	T	0.11452	0.0279	L	0.47716	1.5	0.21897	N	0.99948	B	0.24618	0.107	B	0.20184	0.028	T	0.24905	-1.0147	10	0.72032	D	0.01	.	5.2594	0.15565	0.1318:0.1472:0.0:0.721	.	885	P01023	A2MG_HUMAN	A	885;900	ENSP00000323929:T885A	ENSP00000323929:T885A	T	-	1	0	A2M	9133830	0.013000	0.17824	0.793000	0.32043	0.018000	0.09664	1.471000	0.35365	0.081000	0.16988	0.533000	0.62120	ACT		PASS	0.428	A2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317233.2	NM_000014		28	192	28	192	---	---	---	---
STYK1	55359	broad.mit.edu	37	12	10786662	10786662	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:10786662G>A	ENST00000075503.3	-	4	634	c.114C>T	c.(112-114)ctC>ctT	p.L38L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	38						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.L38L(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						CAAGAAGGATGAGGAAGATAG	0.463										HNSCC(73;0.22)																												uc001qys.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(2)|lung(2)|breast(1)	8						c.(112-114)CTC>CTT		serine/threonine/tyrosine kinase 1							212.0	205.0	207.0					12																	10786662		2203	4300	6503	SO:0001819	synonymous_variant	55359					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr12:10786662G>A	AF251059	CCDS8629.1	12p13.2	2005-01-21							18889	protein-coding gene	gene with protein product		611433				12841579	Standard	NM_018423		Approved	SuRTK106, DKFZp761P1010, NOK	uc001qys.2	Q6J9G0		ENST00000075503.3:c.114C>T	12.37:g.10786662G>A		HNSCC(73;0.22)					p.L38L	NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN			4	635	-			38			Helical; (Potential).		B2R9T2|Q52LR3|Q9BXY2|Q9NSH1	Silent	SNP	ENST00000075503.3	37	c.114C>T	CCDS8629.1																																																																																				PASS	0.463	STYK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399622.1	NM_018423		106	235	106	235	---	---	---	---
KCNJ8	3764	broad.mit.edu	37	12	21919488	21919488	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:21919488C>T	ENST00000240662.2	-	3	789	c.444G>A	c.(442-444)atG>atA	p.M148I	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	148					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)	p.M148I(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	ATTCCTCTGTCATCATCCTCC	0.418																																						uc001rff.2																			1	Substitution - Missense(1)		lung(1)		0						c.(442-444)ATG>ATA		potassium inwardly-rectifying channel J8	Levosimendan(DB00922)						96.0	85.0	89.0					12																	21919488		2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21919488C>T	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.444G>A	12.37:g.21919488C>T	ENSP00000240662:p.Met148Ile						p.M148I	NM_004982	NP_004973	Q15842	IRK8_HUMAN			3	782	-			148			Extracellular (By similarity).		O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.444G>A	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	14.41	2.525953	0.44969	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.91740	-2.9	5.11	5.11	0.69529	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.074564	0.85682	D	0.000000	T	0.77785	0.4182	N	0.01009	-1.055	0.43936	D	0.996598	B	0.02656	0.0	B	0.06405	0.002	T	0.75039	-0.3458	10	0.08179	T;T	0.78;0.78	.	18.7389	0.91767	0.0:1.0:0.0:0.0	.	148	Q15842	IRK8_HUMAN	I	148	ENSP00000240662:M148I	ENSP00000240662:M148I;ENSP00000240662:M148I	M	-	3	0	KCNJ8	21810755	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.667000	0.46808	2.667000	0.90743	0.563000	0.77884	ATG		PASS	0.418	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		26	47	26	47	---	---	---	---
ST8SIA1	6489	broad.mit.edu	37	12	22354968	22354968	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:22354968G>C	ENST00000396037.4	-	5	1070	c.589C>G	c.(589-591)Cag>Gag	p.Q197E	ST8SIA1_ENST00000539510.1_Missense_Mutation_p.Q54E	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	197					carbohydrate metabolic process (GO:0005975)|cellular response to heat (GO:0034605)|glycosphingolipid biosynthetic process (GO:0006688)|positive regulation of cell proliferation (GO:0008284)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.Q197E(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						AGAAGGTTCTGAAACCTATTG	0.378																																						uc001rfo.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)	3						c.(589-591)CAG>GAG		alpha-2,8-sialyltransferase 1							32.0	34.0	33.0					12																	22354968		2202	4300	6502	SO:0001583	missense	6489				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	g.chr12:22354968G>C	L32867	CCDS8697.1	12p12.1-p11.2	2013-03-01	2003-01-14	2005-02-07	ENSG00000111728	ENSG00000111728	2.4.99.8	"""Sialyltransferases"""	10869	protein-coding gene	gene with protein product	"""ST8Sia I"""	601123	"""sialyltransferase 8 (alpha-N-acetylneuraminate: alpha-2,8-sialytransferase, GD3 synthase) A"""	SIAT8, SIAT8A		7901202	Standard	NM_003034		Approved		uc001rfo.4	Q92185	OTTHUMG00000169098	ENST00000396037.4:c.589C>G	12.37:g.22354968G>C	ENSP00000379353:p.Gln197Glu					ST8SIA1_uc009zix.2_Missense_Mutation_p.Q54E	p.Q197E	NM_003034	NP_003025	Q92185	SIA8A_HUMAN			5	1071	-			197			Lumenal (Potential).		A8K4H6|Q17RL0|Q6PZN5|Q93064	Missense_Mutation	SNP	ENST00000396037.4	37	c.589C>G	CCDS8697.1	.	.	.	.	.	.	.	.	.	.	G	10.48	1.360935	0.24684	.	.	ENSG00000111728	ENST00000396037;ENST00000539510;ENST00000540824	T	0.22336	1.96	5.73	4.79	0.61399	.	0.050477	0.85682	N	0.000000	T	0.21509	0.0518	M	0.62723	1.935	0.58432	D	0.999999	B;B	0.12630	0.006;0.0	B;B	0.14578	0.011;0.003	T	0.15723	-1.0427	10	0.02654	T	1	-12.1385	16.5035	0.84263	0.0:0.1667:0.8333:0.0	.	54;197	G3V1U7;Q92185	.;SIA8A_HUMAN	E	197;54;148	ENSP00000379353:Q197E	ENSP00000379353:Q197E	Q	-	1	0	ST8SIA1	22246235	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.540000	0.73861	1.407000	0.46875	0.655000	0.94253	CAG		PASS	0.378	ST8SIA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402245.2	NM_003034		9	56	9	56	---	---	---	---
CASC1	55259	broad.mit.edu	37	12	25259900	25259900	+	IGR	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:25259900C>T	ENST00000320267.9	-	0	2361				LRMP_ENST00000547044.1_Missense_Mutation_p.S391F|LRMP_ENST00000354454.3_Missense_Mutation_p.S391F|LRMP_ENST00000548766.1_Missense_Mutation_p.S391F	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1									p.S391F(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCAGAGCCATCTGGAGAAGAA	0.308																																						uc001rgh.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1171-1173)TCT>TTT		lymphoid-restricted membrane protein							72.0	67.0	69.0					12																	25259900		2203	4300	6503	SO:0001628	intergenic_variant	4033				vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane		g.chr12:25259900C>T	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195		12.37:g.25259900C>T						LRMP_uc010sja.1_Missense_Mutation_p.S391F|LRMP_uc010sjb.1_Missense_Mutation_p.S338F|LRMP_uc001rgi.2_RNA|LRMP_uc010sjc.1_Missense_Mutation_p.S391F|LRMP_uc010sjd.1_Missense_Mutation_p.S338F	p.S391F	NM_006152	NP_006143	Q12912	LRMP_HUMAN			20	2206	+	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)		447			Cytoplasmic (Potential).		B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1172C>T	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	14.49	2.549615	0.45383	.	.	ENSG00000118308	ENST00000354454;ENST00000536173;ENST00000548766;ENST00000547044	T;T;T;T	0.15487	2.42;2.42;2.42;2.42	5.56	4.66	0.58398	.	0.387803	0.22665	N	0.057142	T	0.07999	0.0200	N	0.08118	0	0.21220	N	0.999759	B	0.28900	0.227	B	0.19391	0.025	T	0.29366	-1.0014	10	0.11182	T	0.66	-8.2489	13.0926	0.59174	0.16:0.84:0.0:0.0	.	447	Q12912	LRMP_HUMAN	F	391;338;391;391	ENSP00000346442:S391F;ENSP00000444056:S338F;ENSP00000446496:S391F;ENSP00000450246:S391F	ENSP00000346442:S391F	S	+	2	0	LRMP	25151167	0.002000	0.14202	0.775000	0.31657	0.966000	0.64601	1.073000	0.30691	1.313000	0.45069	0.585000	0.79938	TCT		PASS	0.308	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		9	21	9	21	---	---	---	---
TMTC1	83857	broad.mit.edu	37	12	29670466	29670466	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:29670466G>T	ENST00000539277.1	-	14	2121	c.2063C>A	c.(2062-2064)cCt>cAt	p.P688H	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Missense_Mutation_p.P580H|RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000551659.1_Missense_Mutation_p.P750H|TMTC1_ENST00000552618.1_Missense_Mutation_p.P712H	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	688						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.P580H(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TGCTCCCAAAGGTGACAATAT	0.468																																						uc001rjb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1738-1740)CCT>CAT		transmembrane and tetratricopeptide repeat							152.0	142.0	146.0					12																	29670466		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29670466G>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.2063C>A	12.37:g.29670466G>T	ENSP00000442046:p.Pro688His					TMTC1_uc001riz.2_Missense_Mutation_p.P337H|TMTC1_uc001rja.2_Missense_Mutation_p.P424H|TMTC1_uc001riy.2_Missense_Mutation_p.P33H	p.P580H	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			14	2213	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		688			TPR 7.		D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.1739C>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115272	0.77210	.	.	ENSG00000133687	ENST00000540901;ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277	T;T;T;T	0.51325	0.71;0.71;0.71;1.21	5.63	5.63	0.86233	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.66356	0.2781	L	0.59912	1.85	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.994	T	0.63341	-0.6659	9	.	.	.	-18.6872	18.2616	0.90038	0.0:0.0:1.0:0.0	.	688;750;33	Q8IUR5;F8VTQ9;Q8IUR5-4	TMTC1_HUMAN;.;.	H	451;580;750;712;688	ENSP00000256062:P580H;ENSP00000448112:P750H;ENSP00000449043:P712H;ENSP00000442046:P688H	.	P	-	2	0	TMTC1	29561733	1.000000	0.71417	0.132000	0.22025	0.941000	0.58515	8.566000	0.90734	2.649000	0.89929	0.650000	0.86243	CCT		PASS	0.468	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		38	150	38	150	---	---	---	---
TMTC1	83857	broad.mit.edu	37	12	29904607	29904607	+	Silent	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:29904607G>T	ENST00000539277.1	-	5	988	c.930C>A	c.(928-930)tcC>tcA	p.S310S	TMTC1_ENST00000381224.2_Silent_p.S202S|TMTC1_ENST00000256062.5_Silent_p.S202S|TMTC1_ENST00000551659.1_Silent_p.S310S|TMTC1_ENST00000552618.1_Silent_p.S310S	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	310						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.S202S(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					acctcatcatggaccacacag	0.572																																						uc001rjb.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(604-606)TCC>TCA		transmembrane and tetratricopeptide repeat							119.0	105.0	110.0					12																	29904607		2203	4300	6503	SO:0001819	synonymous_variant	83857					integral to membrane	binding	g.chr12:29904607G>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.930C>A	12.37:g.29904607G>T						TMTC1_uc001rjc.1_Silent_p.S202S	p.S202S	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			5	1080	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		310					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	ENST00000539277.1	37	c.606C>A	CCDS53772.1																																																																																				PASS	0.572	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		28	81	28	81	---	---	---	---
TMTC1	83857	broad.mit.edu	37	12	29904660	29904660	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:29904660G>T	ENST00000539277.1	-	5	935	c.877C>A	c.(877-879)Cca>Aca	p.P293T	TMTC1_ENST00000381224.2_Missense_Mutation_p.P185T|TMTC1_ENST00000256062.5_Missense_Mutation_p.P185T|TMTC1_ENST00000551659.1_Missense_Mutation_p.P293T|TMTC1_ENST00000552618.1_Missense_Mutation_p.P293T	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	293						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)		p.P185T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGTTCTGGTGGCAGTGGAGAG	0.597																																						uc001rjb.2																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)CCA>ACA		transmembrane and tetratricopeptide repeat							90.0	84.0	86.0					12																	29904660		2203	4300	6503	SO:0001583	missense	83857					integral to membrane	binding	g.chr12:29904660G>T		CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324	ENST00000539277.1:c.877C>A	12.37:g.29904660G>T	ENSP00000442046:p.Pro293Thr					TMTC1_uc001rjc.1_Missense_Mutation_p.P185T	p.P185T	NM_175861	NP_787057	Q8IUR5	TMTC1_HUMAN			5	1027	-	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)		293					D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Missense_Mutation	SNP	ENST00000539277.1	37	c.553C>A	CCDS53772.1	.	.	.	.	.	.	.	.	.	.	G	13.57	2.276913	0.40294	.	.	ENSG00000133687	ENST00000256062;ENST00000551659;ENST00000552618;ENST00000539277;ENST00000381224	T;T;T;T;T	0.69175	-0.38;-0.08;-0.35;-0.26;1.5	4.56	2.55	0.30701	.	0.059550	0.64402	D	0.000002	T	0.73016	0.3533	L	0.57536	1.79	0.29948	N	0.820464	D;D	0.89917	0.999;1.0	D;D	0.83275	0.935;0.996	T	0.66416	-0.5929	9	.	.	.	-7.3821	5.4867	0.16753	0.1094:0.2049:0.6857:0.0	.	185;293	Q8IUR5-3;Q8IUR5	.;TMTC1_HUMAN	T	185;293;293;293;185	ENSP00000256062:P185T;ENSP00000448112:P293T;ENSP00000449043:P293T;ENSP00000442046:P293T;ENSP00000370622:P185T	.	P	-	1	0	TMTC1	29795927	0.997000	0.39634	0.369000	0.25952	0.995000	0.86356	3.426000	0.52778	1.237000	0.43756	0.555000	0.69702	CCA		PASS	0.597	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000403509.1	NM_031920		29	67	29	67	---	---	---	---
DENND5B	160518	broad.mit.edu	37	12	31604942	31604942	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:31604942C>A	ENST00000389082.5	-	5	1825	c.1561G>T	c.(1561-1563)Gtc>Ttc	p.V521F	DENND5B_ENST00000536562.1_Missense_Mutation_p.V556F|snoU13_ENST00000458765.1_RNA|DENND5B_ENST00000306833.6_Missense_Mutation_p.V556F|DENND5B_ENST00000354285.4_Missense_Mutation_p.V543F	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	521	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V521F(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTCTGAATGACAAATGCTTCG	0.443																																						uc001rki.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1561-1563)GTC>TTC		DENN/MADD domain containing 5B							109.0	107.0	108.0					12																	31604942		1908	4131	6039	SO:0001583	missense	160518					integral to membrane		g.chr12:31604942C>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.1561G>T	12.37:g.31604942C>A	ENSP00000373734:p.Val521Phe					DENND5B_uc001rkh.1_Missense_Mutation_p.V556F|DENND5B_uc009zjq.1_Intron|DENND5B_uc001rkj.2_Missense_Mutation_p.V543F|DENND5B_uc001rkk.1_Missense_Mutation_p.V443F	p.V521F	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			5	1747	-			521			dDENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.1561G>T	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594655	0.86953	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87	4.88	4.88	0.63580	dDENN (3);	0.000000	0.64402	D	0.000003	T	0.61726	0.2370	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.999;1.0	D;D;D;D	0.83275	0.988;0.988;0.993;0.996	T	0.64833	-0.6314	10	0.87932	D	0	-6.8146	18.2451	0.89982	0.0:1.0:0.0:0.0	.	443;543;521;556	Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;DEN5B_HUMAN;.	F	521;556;556;543;473	ENSP00000373734:V521F;ENSP00000306482:V556F;ENSP00000444889:V556F;ENSP00000346238:V543F;ENSP00000442938:V473F	ENSP00000306482:V556F	V	-	1	0	DENND5B	31496209	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.452000	0.80683	2.532000	0.85374	0.563000	0.77884	GTC		PASS	0.443	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		43	73	43	73	---	---	---	---
KIF21A	55605	broad.mit.edu	37	12	39752079	39752079	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:39752079C>G	ENST00000361418.5	-	8	1131	c.1116G>C	c.(1114-1116)aaG>aaC	p.K372N	KIF21A_ENST00000395670.3_Missense_Mutation_p.K372N|KIF21A_ENST00000361961.3_Missense_Mutation_p.K372N|KIF21A_ENST00000541463.2_Missense_Mutation_p.K372N|KIF21A_ENST00000544797.2_Missense_Mutation_p.K372N			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	372					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K372N(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TCACCTTATTCTTGATATTTC	0.423																																						uc001rly.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|pancreas(1)|lung(1)|skin(1)	7						c.(1114-1116)AAG>AAC		kinesin family member 21A							364.0	322.0	336.0					12																	39752079		2203	4300	6503	SO:0001583	missense	55605				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr12:39752079C>G	AK000059	CCDS31773.1, CCDS53774.1, CCDS53775.1, CCDS53776.1	12q12	2013-01-10						"""Kinesins"", ""WD repeat domain containing"""	19349	protein-coding gene	gene with protein product		608283	"""fibrosis of the extraocular muscles, congenital, 1"""	FEOM1		10225949	Standard	NM_017641		Approved	FLJ20052	uc001rly.3	Q7Z4S6	OTTHUMG00000169335	ENST00000361418.5:c.1116G>C	12.37:g.39752079C>G	ENSP00000354878:p.Lys372Asn					KIF21A_uc001rlx.2_Missense_Mutation_p.K372N|KIF21A_uc001rlz.2_Missense_Mutation_p.K372N|KIF21A_uc010skl.1_Missense_Mutation_p.K372N|KIF21A_uc001rma.1_Missense_Mutation_p.K380N	p.K372N	NM_017641	NP_060111	Q7Z4S6	KI21A_HUMAN			8	1262	-		Lung NSC(34;0.179)|all_lung(34;0.213)	372			Potential.		A8MX28|B0I1R9|B9EGE4|F5H0C3|F5H219|Q2UVF1|Q6UKL9|Q7Z668|Q86WZ5|Q8IVZ8|Q9C0F5|Q9NXU4|Q9Y590	Missense_Mutation	SNP	ENST00000361418.5	37	c.1116G>C	CCDS53776.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.026807	0.75390	.	.	ENSG00000139116	ENST00000361961;ENST00000395670;ENST00000341813;ENST00000544797;ENST00000361418;ENST00000541463;ENST00000552908	T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	4.33	3.42	0.39159	Kinesin, motor domain (2);	0.000000	0.52532	D	0.000075	D	0.84437	0.5472	M	0.83774	2.66	0.52099	D	0.999944	D;D;D;D;D	0.89917	0.988;0.993;0.995;1.0;0.993	D;D;D;D;P	0.85130	0.941;0.977;0.92;0.997;0.905	D	0.85455	0.1163	10	0.87932	D	0	.	8.5191	0.33264	0.0:0.8239:0.0:0.1761	.	372;372;372;372;372	F5H219;B9EGE4;F5H0C3;Q7Z4S6;Q7Z4S6-2	.;.;.;KI21A_HUMAN;.	N	372;372;372;372;372;372;195	ENSP00000354851:K372N;ENSP00000379029:K372N;ENSP00000445606:K372N;ENSP00000354878:K372N;ENSP00000438075:K372N;ENSP00000449700:K195N	ENSP00000344501:K372N	K	-	3	2	KIF21A	38038346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.158000	0.50723	2.101000	0.63845	0.655000	0.94253	AAG		PASS	0.423	KIF21A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403581.1	NM_017641		89	226	89	226	---	---	---	---
LRRK2	120892	broad.mit.edu	37	12	40618961	40618961	+	Missense_Mutation	SNP	G	G	A	rs281865040		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:40618961G>A	ENST00000298910.7	+	1	86	c.28G>A	c.(28-30)Gaa>Aaa	p.E10K	AC079630.4_ENST00000412812.1_RNA|LRRK2_ENST00000343742.2_Missense_Mutation_p.E10K	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	10					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.E10K(4)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TCAGGGGTGCGAAGAGGACGA	0.582																																						uc001rmg.3																			4	Substitution - Missense(4)		large_intestine(2)|lung(2)	ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1)	24	GRCh37	CM074927	LRRK2	M		c.(28-30)GAA>AAA		leucine-rich repeat kinase 2							48.0	50.0	50.0					12																	40618961		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40618961G>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.28G>A	12.37:g.40618961G>A	ENSP00000298910:p.Glu10Lys						p.E10K	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN			1	149	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	10					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.28G>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818247	0.50633	.	.	ENSG00000188906	ENST00000343742;ENST00000298910	T;T	0.48522	0.81;0.81	5.08	3.1	0.35709	.	0.851940	0.10623	N	0.653175	T	0.34600	0.0903	N	0.25647	0.755	0.19575	N	0.999966	P	0.40144	0.704	B	0.34385	0.181	T	0.16778	-1.0391	10	0.66056	D	0.02	.	12.4385	0.55612	0.0:0.3231:0.6769:0.0	.	10	Q5S007	LRRK2_HUMAN	K	10	ENSP00000341930:E10K;ENSP00000298910:E10K	ENSP00000298910:E10K	E	+	1	0	LRRK2	38905228	1.000000	0.71417	0.845000	0.33349	0.940000	0.58332	1.803000	0.38863	1.117000	0.41842	0.561000	0.74099	GAA		PASS	0.582	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		13	45	13	45	---	---	---	---
CCNT1	904	broad.mit.edu	37	12	49087619	49087619	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:49087619G>C	ENST00000261900.3	-	9	1600	c.1378C>G	c.(1378-1380)Ctc>Gtc	p.L460V		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	460					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein phosphorylation (GO:0006468)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|snRNA binding (GO:0017069)|transcription regulatory region DNA binding (GO:0044212)	p.L460V(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CTCATTTTGAGAGCTGTTTTG	0.443																																						uc001rse.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|lung(1)|breast(1)|skin(1)	6						c.(1378-1380)CTC>GTC		cyclin T1							59.0	63.0	62.0					12																	49087619		2203	4300	6503	SO:0001583	missense	904				cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding	g.chr12:49087619G>C	AF048730	CCDS8766.1, CCDS61109.1	12q13.11	2010-11-15			ENSG00000129315	ENSG00000129315			1599	protein-coding gene	gene with protein product		143055	"""human immunodeficiency virus type 1 (HIV-1) expression (elevated) 1"""	HIVE1		9491887, 9499409	Standard	NM_001240		Approved	CCNT, CYCT1	uc001rsd.4	O60563	OTTHUMG00000170393	ENST00000261900.3:c.1378C>G	12.37:g.49087619G>C	ENSP00000261900:p.Leu460Val					LOC144438_uc001rsd.3_5'Flank|CCNT1_uc009zkz.1_Missense_Mutation_p.L175V	p.L460V	NM_001240	NP_001231	O60563	CCNT1_HUMAN			9	1701	-			460					A9XU13|E7EX76|O60581	Missense_Mutation	SNP	ENST00000261900.3	37	c.1378C>G	CCDS8766.1	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457220	0.43634	.	.	ENSG00000129315	ENST00000261900	T	0.37915	1.17	5.18	1.12	0.20585	.	0.346259	0.29830	N	0.011082	T	0.45155	0.1328	L	0.52905	1.665	0.31600	N	0.652833	D	0.61080	0.989	P	0.58970	0.849	T	0.52109	-0.8619	10	0.52906	T	0.07	-0.3826	9.2338	0.37453	0.2053:0.1085:0.6862:0.0	.	460	O60563	CCNT1_HUMAN	V	460	ENSP00000261900:L460V	ENSP00000261900:L460V	L	-	1	0	CCNT1	47373886	1.000000	0.71417	0.982000	0.44146	0.936000	0.57629	2.499000	0.45372	-0.202000	0.10268	-1.134000	0.01955	CTC		PASS	0.443	CCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408853.1	NM_001240		36	92	36	92	---	---	---	---
WNT10B	7480	broad.mit.edu	37	12	49360170	49360170	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:49360170C>A	ENST00000301061.4	-	5	1226	c.878G>T	c.(877-879)gGa>gTa	p.G293V	WNT10B_ENST00000403957.1_3'UTR|WNT10B_ENST00000407467.1_3'UTR	NM_003394.3	NP_003385.2	O00744	WN10B_HUMAN	wingless-type MMTV integration site family, member 10B	293					bone trabecula formation (GO:0060346)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to cAMP (GO:0071320)|cellular response to hydrostatic pressure (GO:0071464)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fungiform papilla development (GO:0061196)|G2/M transition of mitotic cell cycle (GO:0000086)|hematopoietic stem cell proliferation (GO:0071425)|lipid metabolic process (GO:0006629)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of anagen (GO:0051885)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein stabilization (GO:0050821)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of skeletal muscle tissue development (GO:0048641)|sensory perception of taste (GO:0050909)|skeletal muscle fiber development (GO:0048741)|smoothened signaling pathway (GO:0007224)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor agonist activity (GO:0048018)	p.G293V(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						CTGGAAGGCTCCAGAATTGCG	0.637																																						uc001rss.2																			1	Substitution - Missense(1)		lung(1)	skin(4)|lung(3)	7						c.(877-879)GGA>GTA		wingless-type MMTV integration site family,							46.0	55.0	52.0					12																	49360170		2203	4300	6503	SO:0001583	missense	7480				axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	g.chr12:49360170C>A	X97057	CCDS8775.1	12q13	2009-01-02			ENSG00000169884	ENSG00000169884		"""Wingless-type MMTV integration sites"""	12775	protein-coding gene	gene with protein product		601906				9121776, 9284937, 18515319	Standard	NM_003394		Approved	WNT-12, SHFM6	uc001rss.3	O00744	OTTHUMG00000150734	ENST00000301061.4:c.878G>T	12.37:g.49360170C>A	ENSP00000301061:p.Gly293Val					WNT10B_uc001rst.2_3'UTR	p.G293V	NM_003394	NP_003385	O00744	WN10B_HUMAN			5	1224	-			293					B2R7A5|O00747|Q4VAJ4|Q4VAJ5|Q8WZ97	Missense_Mutation	SNP	ENST00000301061.4	37	c.878G>T	CCDS8775.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.441260	0.83993	.	.	ENSG00000169884	ENST00000301061	T	0.75260	-0.92	4.43	4.43	0.53597	.	13.126700	0.01467	N	0.016136	T	0.80602	0.4654	M	0.66560	2.04	0.80722	D	1	P	0.42123	0.771	P	0.44422	0.449	T	0.66952	-0.5793	10	0.27082	T	0.32	.	16.3501	0.83202	0.0:1.0:0.0:0.0	.	293	O00744	WN10B_HUMAN	V	293	ENSP00000301061:G293V	ENSP00000301061:G293V	G	-	2	0	WNT10B	47646437	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.609000	0.82925	2.484000	0.83849	0.561000	0.74099	GGA		PASS	0.637	WNT10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319864.1	NM_003394		43	108	43	108	---	---	---	---
KRT6C	286887	broad.mit.edu	37	12	52863615	52863615	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:52863615C>A	ENST00000252250.6	-	7	1310	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	421	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)	p.K421N(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		TCTTAGCATCCTTGAGTGCCA	0.577																																						uc001sal.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(1261-1263)AAG>AAT		keratin 6C							81.0	62.0	68.0					12																	52863615		2203	4299	6502	SO:0001583	missense	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52863615C>A	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1263G>T	12.37:g.52863615C>A	ENSP00000252250:p.Lys421Asn						p.K421N	NM_173086	NP_775109	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	7	1311	-			421			Rod.|Coil 2.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Missense_Mutation	SNP	ENST00000252250.6	37	c.1263G>T	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675422	0.29783	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	T	0.76709	-1.04	3.77	0.899	0.19271	Filament (1);	0.000000	0.64402	D	0.000008	D	0.86091	0.5850	M	0.87617	2.895	0.40520	D	0.980827	D	0.89917	1.0	D	0.87578	0.998	D	0.83443	0.0044	10	0.41790	T	0.15	.	7.5134	0.27587	0.0:0.5466:0.0:0.4534	.	421	P48668	K2C6C_HUMAN	N	421;406	ENSP00000252250:K421N	ENSP00000252250:K421N	K	-	3	2	KRT6C	51149882	0.951000	0.32395	0.995000	0.50966	0.207000	0.24258	0.110000	0.15437	0.377000	0.24735	0.448000	0.29417	AAG		PASS	0.577	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		18	68	18	68	---	---	---	---
KRT76	51350	broad.mit.edu	37	12	53170983	53170983	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:53170983G>T	ENST00000332411.2	-	1	146	c.93C>A	c.(91-93)agC>agA	p.S31R		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	31	Head.				cytoskeleton organization (GO:0007010)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.S31R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGCCACACAGCTCATCCTGC	0.607																																						uc001sax.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|skin(1)	2						c.(91-93)AGC>AGA		keratin 76							47.0	58.0	55.0					12																	53170983		2203	4300	6503	SO:0001583	missense	51350				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53170983G>T	M99063	CCDS8838.1	12q13.13	2013-06-25			ENSG00000185069	ENSG00000185069		"""-"", ""Intermediate filaments type II, keratins (basic)"""	24430	protein-coding gene	gene with protein product						1282112, 16831889	Standard	NM_015848		Approved	HUMCYT2A, KRT2B, KRT2P	uc001sax.3	Q01546	OTTHUMG00000169797	ENST00000332411.2:c.93C>A	12.37:g.53170983G>T	ENSP00000330101:p.Ser31Arg						p.S31R	NM_015848	NP_056932	Q01546	K22O_HUMAN			1	147	-			31			Head.		B4DRR3|Q7Z795	Missense_Mutation	SNP	ENST00000332411.2	37	c.93C>A	CCDS8838.1	.	.	.	.	.	.	.	.	.	.	G	10.24	1.296199	0.23650	.	.	ENSG00000185069	ENST00000332411	D	0.84223	-1.82	4.42	4.42	0.53409	.	0.000000	0.56097	D	0.000033	T	0.79516	0.4459	M	0.70903	2.155	0.18873	N	0.999986	P	0.35272	0.493	B	0.23275	0.045	T	0.74435	-0.3666	10	0.52906	T	0.07	.	8.068	0.30672	0.2156:0.0:0.7844:0.0	.	31	Q01546	K22O_HUMAN	R	31	ENSP00000330101:S31R	ENSP00000330101:S31R	S	-	3	2	KRT76	51457250	0.999000	0.42202	0.752000	0.31206	0.480000	0.33159	3.063000	0.49978	2.753000	0.94483	0.650000	0.86243	AGC		PASS	0.607	KRT76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405928.1	NM_015848		44	75	44	75	---	---	---	---
ITGB7	3695	broad.mit.edu	37	12	53589169	53589169	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:53589169C>T	ENST00000267082.5	-	9	1381	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	ITGB7_ENST00000338737.4_Missense_Mutation_p.D384N|ITGB7_ENST00000422257.3_Missense_Mutation_p.D384N|ITGB7_ENST00000550743.2_Missense_Mutation_p.D384N	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	384	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)	p.D384N(1)		NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTATAAGCATCCATGATGAGC	0.552																																						uc009zmv.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|breast(1)	8						c.(1150-1152)GAT>AAT		integrin, beta 7 precursor							95.0	84.0	88.0					12																	53589169		2203	4300	6503	SO:0001583	missense	3695				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity	g.chr12:53589169C>T		CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.1150G>A	12.37:g.53589169C>T	ENSP00000267082:p.Asp384Asn					ITGB7_uc001scc.2_Missense_Mutation_p.D384N|ITGB7_uc010snz.1_RNA	p.D384N	NM_000889	NP_000880	P26010	ITB7_HUMAN			8	1221	-			384			VWFA.|Extracellular (Potential).		Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	c.1150G>A	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668693	0.29604	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737;ENST00000542497	D;D;D;D	0.97553	-4.43;-4.43;-4.43;-4.43	4.21	2.36	0.29203	Integrin beta subunit, N-terminal (2);	0.160399	0.29609	N	0.011667	D	0.92916	0.7746	L	0.38692	1.165	0.46131	D	0.998886	B	0.18968	0.032	B	0.22880	0.042	D	0.86827	0.2008	10	0.17369	T	0.5	.	9.9576	0.41678	0.0:0.8248:0.0:0.1752	.	384	P26010	ITB7_HUMAN	N	384	ENSP00000408741:D384N;ENSP00000267082:D384N;ENSP00000345501:D384N;ENSP00000437375:D384N	ENSP00000267082:D384N	D	-	1	0	ITGB7	51875436	0.717000	0.27966	0.949000	0.38748	0.544000	0.35116	2.489000	0.45285	0.703000	0.31848	0.563000	0.77884	GAT		PASS	0.552	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2			21	86	21	86	---	---	---	---
AMHR2	269	broad.mit.edu	37	12	53818661	53818661	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:53818661C>G	ENST00000257863.4	+	3	481	c.401C>G	c.(400-402)tCc>tGc	p.S134C	AMHR2_ENST00000550311.1_Missense_Mutation_p.S134C|AMHR2_ENST00000379791.3_Missense_Mutation_p.S134C	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	134					Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.S134C(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	ACTCCTGGCTCCCAGGGTCCC	0.632																																						uc001scx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(400-402)TCC>TGC		anti-Mullerian hormone receptor, type II isoform	Adenosine triphosphate(DB00171)						63.0	70.0	68.0					12																	53818661		2203	4299	6502	SO:0001583	missense	269	Persistant_Mullerian_Duct_Syndrome_(type_I_and_II)			Mullerian duct regression		ATP binding|hormone binding|metal ion binding	g.chr12:53818661C>G	AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.401C>G	12.37:g.53818661C>G	ENSP00000257863:p.Ser134Cys					AMHR2_uc009zmy.1_Missense_Mutation_p.S134C	p.S134C	NM_020547	NP_065434	Q16671	AMHR2_HUMAN			3	479	+			134			Extracellular (Potential).		A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Missense_Mutation	SNP	ENST00000257863.4	37	c.401C>G	CCDS8858.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.290891	0.40494	.	.	ENSG00000135409	ENST00000257863;ENST00000550311;ENST00000379791	D;D;D	0.94138	-3.36;-3.36;-3.35	3.94	2.1	0.27182	.	1.251230	0.06000	N	0.647628	D	0.87245	0.6129	N	0.24115	0.695	0.09310	N	1	P;P	0.50156	0.932;0.889	B;B	0.40165	0.321;0.171	T	0.78738	-0.2087	10	0.52906	T	0.07	.	6.4049	0.21658	0.0:0.7723:0.0:0.2277	.	134;134	F8W1D2;Q16671	.;AMHR2_HUMAN	C	134	ENSP00000257863:S134C;ENSP00000446661:S134C;ENSP00000369117:S134C	ENSP00000257863:S134C	S	+	2	0	AMHR2	52104928	0.004000	0.15560	0.461000	0.27105	0.979000	0.70002	-0.044000	0.12023	0.461000	0.27071	0.655000	0.94253	TCC		PASS	0.632	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407048.1	NM_020547		45	136	45	136	---	---	---	---
HNRNPA1	3178	broad.mit.edu	37	12	54676268	54676268	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:54676268G>C	ENST00000340913.6	+	5	634	c.581G>C	c.(580-582)aGa>aCa	p.R194T	HNRNPA1_ENST00000330752.8_Missense_Mutation_p.R194T|CBX5_ENST00000209875.4_5'Flank|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.R194T|RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.R194T	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	194					cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)	p.R194T(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCCAGCCAAAGAGGTATGCTT	0.368																																					Colon(83;502 1289 8436 16406 24870)	uc001sfl.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|ovary(1)	3						c.(580-582)AGA>ACA		heterogeneous nuclear ribonucleoprotein A1							80.0	82.0	81.0					12																	54676268		2170	4291	6461	SO:0001583	missense	3178				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding	g.chr12:54676268G>C	BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.581G>C	12.37:g.54676268G>C	ENSP00000341826:p.Arg194Thr					CBX5_uc001sfk.3_5'Flank|CBX5_uc001sfi.3_5'Flank|HNRNPA1_uc001sfm.2_Missense_Mutation_p.R194T|HNRNPA1_uc009zng.2_Missense_Mutation_p.R194T|HNRNPA1_uc009znh.2_Missense_Mutation_p.R194T|HNRNPA1_uc009zni.2_Missense_Mutation_p.R194T|HNRNPA1_uc001sfn.2_Missense_Mutation_p.R194T|HNRNPA1_uc001sfo.3_RNA|HNRNPA1_uc001sfp.1_Missense_Mutation_p.R149T|HNRNPA1_uc009znj.1_Missense_Mutation_p.R149T	p.R194T	NM_031157	NP_112420	P09651	ROA1_HUMAN			5	685	+			194					A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	ENST00000340913.6	37	c.581G>C	CCDS44909.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060566	0.55432	.	.	ENSG00000135486	ENST00000546500;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276;ENST00000548688;ENST00000550482	D;D;D;D;D;D;D	0.86366	-2.11;-2.11;-2.11;-2.11;-2.11;-2.11;-2.11	3.28	3.28	0.37604	Nucleotide-binding, alpha-beta plait (1);	0.106321	0.37530	N	0.002051	T	0.80747	0.4682	L	0.60904	1.88	0.46927	D	0.999255	P;P;P;P;B;B;P;P	0.37233	0.588;0.463;0.463;0.463;0.317;0.007;0.463;0.588	B;B;B;B;B;B;B;B	0.23574	0.021;0.047;0.047;0.047;0.024;0.03;0.047;0.036	T	0.81093	-0.1089	10	0.34782	T	0.22	.	12.8457	0.57829	0.0:0.0:1.0:0.0	.	172;194;194;194;194;194;194;194	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;F8VXY0;P09651-3;P09651-2;P09651	.;.;.;.;.;.;.;ROA1_HUMAN	T	194;194;194;194;194;194;145;194;194;213;65	ENSP00000448617:R194T;ENSP00000341826:R194T;ENSP00000333504:R194T;ENSP00000448117:R145T;ENSP00000447260:R194T;ENSP00000447782:R213T;ENSP00000446486:R65T	ENSP00000333504:R194T	R	+	2	0	HNRNPA1	52962535	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	9.368000	0.97152	2.141000	0.66446	0.297000	0.19635	AGA		PASS	0.368	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405480.1	NM_031157		8	42	8	42	---	---	---	---
OR6C65	403282	broad.mit.edu	37	12	55794865	55794865	+	Missense_Mutation	SNP	A	A	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:55794865A>G	ENST00000379665.2	+	1	652	c.553A>G	c.(553-555)Att>Gtt	p.I185V		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I185V(1)		cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						TATGCTGCTGATTGCTTGCAC	0.443																																						uc010spl.1																			1	Substitution - Missense(1)		lung(1)		0						c.(553-555)ATT>GTT		olfactory receptor, family 6, subfamily C,							248.0	250.0	249.0					12																	55794865		2203	4300	6503	SO:0001583	missense	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55794865A>G		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.553A>G	12.37:g.55794865A>G	ENSP00000368986:p.Ile185Val						p.I185V	NM_001005518	NP_001005518	A6NJZ3	O6C65_HUMAN			1	553	+			185			Extracellular (Potential).		B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	c.553A>G	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	A	12.36	1.914709	0.33815	.	.	ENSG00000205328	ENST00000379665	T	0.00099	8.73	3.56	0.825	0.18824	GPCR, rhodopsin-like superfamily (1);	0.192695	0.24884	U	0.034830	T	0.00178	0.0005	L	0.41632	1.29	0.09310	N	1	P	0.39443	0.674	P	0.46299	0.511	T	0.38714	-0.9648	10	0.87932	D	0	.	10.6452	0.45615	0.5216:0.4784:0.0:0.0	.	185	A6NJZ3	O6C65_HUMAN	V	185	ENSP00000368986:I185V	ENSP00000368986:I185V	I	+	1	0	OR6C65	54081132	0.000000	0.05858	0.069000	0.20011	0.706000	0.40770	-0.722000	0.04958	0.524000	0.28502	0.348000	0.21847	ATT		PASS	0.443	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			121	292	121	292	---	---	---	---
GLI1	2735	broad.mit.edu	37	12	57857555	57857555	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:57857555C>A	ENST00000228682.2	+	2	172	c.81C>A	c.(79-81)gcC>gcA	p.A27A	GLI1_ENST00000546141.1_Silent_p.A27A|GLI1_ENST00000543426.1_Intron	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	27					cerebellar cortex morphogenesis (GO:0021696)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral pattern formation (GO:0009953)|epidermal cell differentiation (GO:0009913)|lung development (GO:0030324)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|notochord regression (GO:0060032)|osteoblast differentiation (GO:0001649)|pituitary gland development (GO:0021983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proximal/distal pattern formation (GO:0009954)|regulation of smoothened signaling pathway (GO:0008589)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation (GO:0021938)|spermatogenesis (GO:0007283)|ventral midline development (GO:0007418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|primary cilium (GO:0072372)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription regulatory region DNA binding (GO:0044212)	p.A27A(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTCAGGGGGCCCCCAGTGTGG	0.607																																					Pancreas(157;841 1936 10503 41495 50368)	uc001snx.2																			1	Substitution - coding silent(1)		lung(1)	skin(4)|ovary(4)|breast(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)|pancreas(1)	15						c.(79-81)GCC>GCA		GLI family zinc finger 1 isoform 1							54.0	52.0	52.0					12																	57857555		2203	4300	6503	SO:0001819	synonymous_variant	2735				epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding	g.chr12:57857555C>A		CCDS8940.1, CCDS53806.1, CCDS53807.1	12q13.2-q13.3	2013-01-25	2009-03-05	2005-01-14		ENSG00000111087		"""Zinc fingers, C2H2-type"""	4317	protein-coding gene	gene with protein product		165220	"""glioma-associated oncogene homolog 1 (zinc finger protein)"", ""glioma-associated oncogene family zinc finger 1"""	GLI		2850480	Standard	NM_005269		Approved		uc001snx.3	P08151		ENST00000228682.2:c.81C>A	12.37:g.57857555C>A						GLI1_uc009zpp.2_Intron|GLI1_uc009zpq.2_Intron|GLI1_uc009zpr.1_Intron	p.A27A	NM_005269	NP_005260	P08151	GLI1_HUMAN	GBM - Glioblastoma multiforme(3;3.99e-32)		2	159	+			27					D0EUY3|E9PQQ9|F5H6H8|Q8TDN9	Silent	SNP	ENST00000228682.2	37	c.81C>A	CCDS8940.1																																																																																				PASS	0.607	GLI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394197.1	NM_005269		21	39	21	39	---	---	---	---
PTPRB	5787	broad.mit.edu	37	12	70981033	70981033	+	Missense_Mutation	SNP	G	G	T	rs3960114		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:70981033G>T	ENST00000261266.5	-	7	1440	c.1411C>A	c.(1411-1413)Ctc>Atc	p.L471I	PTPRB_ENST00000334414.6_Missense_Mutation_p.L689I|PTPRB_ENST00000451516.2_Missense_Mutation_p.L381I|PTPRB_ENST00000551525.1_Missense_Mutation_p.L688I|PTPRB_ENST00000550857.1_Missense_Mutation_p.L381I|PTPRB_ENST00000550358.1_Missense_Mutation_p.L689I|PTPRB_ENST00000538708.1_Missense_Mutation_p.L471I|PTPRB_ENST00000538174.2_5'UTR	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	471	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.L471I(2)|p.L689I(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CGAAGCTGGAGGACAGCCAGG	0.468																																						uc001swb.3																			3	Substitution - Missense(3)		lung(3)	lung(2)|skin(1)	3						c.(1411-1413)CTC>ATC		protein tyrosine phosphatase, receptor type, B							58.0	55.0	56.0					12																	70981033		2004	4176	6180	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70981033G>T	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1411C>A	12.37:g.70981033G>T	ENSP00000261266:p.Leu471Ile					PTPRB_uc010sto.1_Missense_Mutation_p.L471I|PTPRB_uc010stp.1_Missense_Mutation_p.L381I|PTPRB_uc001swc.3_Missense_Mutation_p.L689I|PTPRB_uc001swa.3_Missense_Mutation_p.L689I|PTPRB_uc001swd.3_Missense_Mutation_p.L688I|PTPRB_uc009zrr.1_Missense_Mutation_p.L568I	p.L471I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		7	1441	-	Renal(347;0.236)		471			Fibronectin type-III 6.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.1411C>A	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	G	11.16	1.555927	0.27827	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000544694;ENST00000538708;ENST00000550857;ENST00000261266;ENST00000551525;ENST00000548122	T;T;T;T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.12	0.626	0.17670	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.830045	0.10970	N	0.614014	T	0.45776	0.1359	L	0.51422	1.61	0.24949	N	0.991806	B;B;B;B;B;B;B	0.30193	0.012;0.061;0.078;0.272;0.01;0.146;0.022	B;B;B;B;B;B;B	0.35312	0.037;0.126;0.091;0.192;0.025;0.2;0.041	T	0.39761	-0.9598	10	0.33141	T	0.24	.	7.4672	0.27328	0.0686:0.3419:0.4839:0.1055	.	381;471;568;688;689;471;689	P23467-2;F5H3G6;Q6ZR19;F8VSD5;P23467-3;P23467;F8VU56	.;.;.;.;.;PTPRB_HUMAN;.	I	689;381;689;689;471;381;471;688;568	ENSP00000334928:L689I;ENSP00000393028:L381I;ENSP00000448058:L689I;ENSP00000438927:L471I;ENSP00000447302:L381I;ENSP00000261266:L471I;ENSP00000448349:L688I;ENSP00000446982:L568I	ENSP00000261266:L471I	L	-	1	0	PTPRB	69267300	1.000000	0.71417	0.994000	0.49952	0.918000	0.54935	2.523000	0.45580	0.154000	0.19237	-0.252000	0.11476	CTC		PASS	0.468	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			12	58	12	58	---	---	---	---
NAV3	89795	broad.mit.edu	37	12	78362332	78362332	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:78362332G>A	ENST00000397909.2	+	5	694	c.521G>A	c.(520-522)gGg>gAg	p.G174E	NAV3_ENST00000228327.6_Missense_Mutation_p.G174E|NAV3_ENST00000266692.7_Missense_Mutation_p.G174E|NAV3_ENST00000536525.2_Missense_Mutation_p.G174E			Q8IVL0	NAV3_HUMAN	neuron navigator 3	174	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.G174E(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCCATTCTAGGGCTGTTTTTC	0.348										HNSCC(70;0.22)																												uc001syp.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	17						c.(520-522)GGG>GAG		neuron navigator 3							73.0	77.0	76.0					12																	78362332		1904	4106	6010	SO:0001583	missense	89795					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	g.chr12:78362332G>A	AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.521G>A	12.37:g.78362332G>A	ENSP00000381007:p.Gly174Glu	HNSCC(70;0.22)				NAV3_uc001syo.2_Missense_Mutation_p.G174E	p.G174E	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN			5	694	+			174			CH.		Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	ENST00000397909.2	37	c.521G>A		.	.	.	.	.	.	.	.	.	.	G	19.44	3.828251	0.71143	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	5.73	5.73	0.89815	Calponin homology domain (5);	0.000000	0.38897	U	0.001533	D	0.84097	0.5397	M	0.90595	3.13	0.80722	D	1	P;D	0.89917	0.947;1.0	D;D	0.97110	0.954;1.0	D	0.86589	0.1859	10	0.87932	D	0	-11.0413	19.9618	0.97254	0.0:0.0:1.0:0.0	.	174;174	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	E	174	ENSP00000446628:G174E;ENSP00000446132:G174E;ENSP00000381007:G174E;ENSP00000228327:G174E;ENSP00000266692:G174E	ENSP00000228327:G174E	G	+	2	0	NAV3	76886463	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.201000	0.95017	2.719000	0.93026	0.632000	0.83419	GGG		PASS	0.348	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1	NM_001024383		24	73	24	73	---	---	---	---
MYF6	4618	broad.mit.edu	37	12	81101810	81101810	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:81101810G>A	ENST00000228641.3	+	1	534	c.312G>A	c.(310-312)agG>agA	p.R104R		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	104	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R104R(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GCGAAAGGAGGAGGCTAAAGA	0.607																																						uc001szf.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(1)	1						c.(310-312)AGG>AGA		myogenic factor 6							46.0	51.0	49.0					12																	81101810		2203	4299	6502	SO:0001819	synonymous_variant	4618				muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity	g.chr12:81101810G>A		CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.312G>A	12.37:g.81101810G>A							p.R104R	NM_002469	NP_002460	P23409	MYF6_HUMAN			1	365	+			104			Basic motif.		B2R898|Q53X80|Q6FHI9	Silent	SNP	ENST00000228641.3	37	c.312G>A	CCDS9019.1																																																																																				PASS	0.607	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407756.1	NM_002469		30	67	30	67	---	---	---	---
RASSF9	9182	broad.mit.edu	37	12	86199572	86199572	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:86199572C>T	ENST00000361228.3	-	2	584	c.216G>A	c.(214-216)ggG>ggA	p.G72G		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	72	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)	p.G72G(2)		endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CACTGGGCTTCCCCAGAAGAA	0.498																																						uc001taf.1																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(214-216)GGG>GGA		Ras association (RalGDS/AF-6) domain family							105.0	104.0	104.0					12																	86199572		1911	4148	6059	SO:0001819	synonymous_variant	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199572C>T		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.216G>A	12.37:g.86199572C>T							p.G72G	NM_005447	NP_005438	O75901	RASF9_HUMAN			2	555	-			72			Ras-associating.		B3KMQ4|Q8N5U8	Silent	SNP	ENST00000361228.3	37	c.216G>A	CCDS44950.1																																																																																				PASS	0.498	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1			32	199	32	199	---	---	---	---
TMCC3	57458	broad.mit.edu	37	12	94965215	94965215	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:94965215C>G	ENST00000261226.4	-	4	1561	c.1430G>C	c.(1429-1431)aGa>aCa	p.R477T	TMCC3_ENST00000551457.1_Missense_Mutation_p.R446T	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	477						integral component of membrane (GO:0016021)		p.R477T(1)		NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GTGGCTTCATCTTGGTATTAT	0.388																																						uc001tdj.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1429-1431)AGA>ACA		transmembrane and coiled-coil domain family 3							85.0	83.0	84.0					12																	94965215		2203	4300	6503	SO:0001583	missense	57458					integral to membrane		g.chr12:94965215C>G	AB032971	CCDS31877.1, CCDS73506.1	12q22	2005-01-21	2005-07-13			ENSG00000057704		"""Transmembrane and coiled-coil domain containing"""	29199	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 3"""			10574461	Standard	XM_005269039		Approved	KIAA1145	uc001tdj.2	Q9ULS5	OTTHUMG00000170225	ENST00000261226.4:c.1430G>C	12.37:g.94965215C>G	ENSP00000261226:p.Arg477Thr					TMCC3_uc001tdi.2_Missense_Mutation_p.R446T	p.R477T	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN			4	1548	-			477					Q8IWB2	Missense_Mutation	SNP	ENST00000261226.4	37	c.1430G>C	CCDS31877.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823653	0.71143	.	.	ENSG00000057704	ENST00000261226;ENST00000551457	T;T	0.52057	1.21;0.68	5.33	5.33	0.75918	.	0.192677	0.52532	D	0.000079	T	0.62490	0.2432	L	0.40543	1.245	0.51482	D	0.999924	D	0.63880	0.993	D	0.72338	0.977	T	0.65100	-0.6250	10	0.87932	D	0	.	19.0192	0.92906	0.0:1.0:0.0:0.0	.	477	Q9ULS5	TMCC3_HUMAN	T	477;446	ENSP00000261226:R477T;ENSP00000449888:R446T	ENSP00000261226:R477T	R	-	2	0	TMCC3	93489346	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	6.962000	0.76048	2.495000	0.84180	0.561000	0.74099	AGA		PASS	0.388	TMCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408113.1	NM_020698		20	63	20	63	---	---	---	---
VEZT	55591	broad.mit.edu	37	12	95611648	95611648	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:95611648G>C	ENST00000436874.1	+	1	127	c.22G>C	c.(22-24)Gag>Cag	p.E8Q	FGD6_ENST00000546711.1_5'Flank|VEZT_ENST00000261219.6_5'UTR|FGD6_ENST00000549499.1_5'Flank|FGD6_ENST00000343958.4_5'Flank	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	8					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)		p.E8Q(2)		endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GTTTGACGAAGAGGTGGTTTT	0.582																																						uc001tdz.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(22-24)GAG>CAG		vezatin, adherens junctions transmembrane							155.0	168.0	164.0					12																	95611648		1988	4154	6142	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95611648G>C	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.22G>C	12.37:g.95611648G>C	ENSP00000410083:p.Glu8Gln					FGD6_uc001tdp.3_5'Flank|FGD6_uc009zsx.2_5'Flank|VEZT_uc009zsy.1_5'UTR|VEZT_uc001tdr.2_5'UTR|VEZT_uc001tds.2_5'UTR|VEZT_uc001tdt.2_5'UTR|VEZT_uc009zsz.1_Missense_Mutation_p.E8Q|VEZT_uc001tdv.2_5'UTR|VEZT_uc001tdw.1_5'Flank	p.E8Q	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN			1	127	+			8					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.22G>C	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	19.06	3.753319	0.69648	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000551472;ENST00000552821	T;T;T	0.49720	2.36;0.8;0.77	4.84	4.84	0.62591	.	.	.	.	.	T	0.65575	0.2704	L	0.56769	1.78	0.47037	D	0.999295	D	0.89917	1.0	D	0.80764	0.994	T	0.65389	-0.6180	9	0.44086	T	0.13	-18.5235	17.8979	0.88895	0.0:0.0:1.0:0.0	.	8	Q9HBM0	VEZA_HUMAN	Q	8	ENSP00000410083:E8Q;ENSP00000449591:E8Q;ENSP00000449701:E8Q	ENSP00000410083:E8Q	E	+	1	0	VEZT	94135779	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.202000	0.72131	2.378000	0.81104	0.455000	0.32223	GAG		PASS	0.582	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		33	79	33	79	---	---	---	---
SNRPF	6636	broad.mit.edu	37	12	96259141	96259141	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:96259141G>A	ENST00000266735.5	+	3	315	c.169G>A	c.(169-171)Gga>Aga	p.G57R	SNRPF_ENST00000552085.1_Intron|SNRPF_ENST00000553192.1_Intron	NM_003095.2	NP_003086.1	P62306	RUXF_HUMAN	small nuclear ribonucleoprotein polypeptide F	57					gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|pICln-Sm protein complex (GO:0034715)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	RNA binding (GO:0003723)	p.G57R(1)		kidney(1)|lung(1)	2						AGCTTTGTCTGGACATCTGGG	0.328																																					Melanoma(51;669 1224 3250 18967 46236)	uc001tej.2																			1	Substitution - Missense(1)		lung(1)		0						c.(169-171)GGA>AGA		small nuclear ribonucleoprotein polypeptide F							107.0	114.0	112.0					12																	96259141		2203	4297	6500	SO:0001583	missense	6636				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding	g.chr12:96259141G>A	X85372	CCDS9055.1	12q23.1	2011-10-11			ENSG00000139343	ENSG00000139343			11162	protein-coding gene	gene with protein product		603541				7744013	Standard	NM_003095		Approved	Sm-F	uc001tej.3	P62306		ENST00000266735.5:c.169G>A	12.37:g.96259141G>A	ENSP00000266735:p.Gly57Arg						p.G57R	NM_003095	NP_003086	P62306	RUXF_HUMAN			3	312	+			57					A2VCR2|B2R498|Q15356|Q6IBQ1|Q6P4I0	Missense_Mutation	SNP	ENST00000266735.5	37	c.169G>A	CCDS9055.1	.	.	.	.	.	.	.	.	.	.	G	31	5.100728	0.94245	.	.	ENSG00000139343	ENST00000266735	T	0.36340	1.26	5.85	5.85	0.93711	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.096661	0.64402	D	0.000001	T	0.55641	0.1933	.	.	.	0.80722	D	1	P	0.49559	0.925	P	0.55161	0.77	T	0.57106	-0.7868	9	0.87932	D	0	-18.9645	17.9602	0.89083	0.0:0.0:1.0:0.0	.	57	P62306	RUXF_HUMAN	R	57	ENSP00000266735:G57R	ENSP00000266735:G57R	G	+	1	0	SNRPF	94783272	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.132000	0.94455	2.766000	0.95052	0.650000	0.86243	GGA		PASS	0.328	SNRPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408626.1	NM_003095		41	115	41	115	---	---	---	---
ANO4	121601	broad.mit.edu	37	12	101436227	101436227	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:101436227C>G	ENST00000392977.3	+	12	1345	c.1135C>G	c.(1135-1137)Ctg>Gtg	p.L379V	ANO4_ENST00000392979.3_Missense_Mutation_p.L344V|ANO4_ENST00000299222.9_5'UTR			Q32M45	ANO4_HUMAN	anoctamin 4	379					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)	p.L344V(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CGTCACCACTCTGGATCACAG	0.483										HNSCC(74;0.22)																												uc010svm.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|skin(2)	6						c.(1135-1137)CTG>GTG		anoctamin 4							164.0	147.0	153.0					12																	101436227		2203	4300	6503	SO:0001583	missense	121601					chloride channel complex	chloride channel activity	g.chr12:101436227C>G	AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.1135C>G	12.37:g.101436227C>G	ENSP00000376703:p.Leu379Val	HNSCC(74;0.22)				ANO4_uc001thw.2_Missense_Mutation_p.L344V|ANO4_uc001thx.2_Missense_Mutation_p.L379V	p.L379V	NM_178826	NP_849148	Q32M45	ANO4_HUMAN			12	1707	+			379			Cytoplasmic (Potential).		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	ENST00000392977.3	37	c.1135C>G		.	.	.	.	.	.	.	.	.	.	C	14.24	2.475202	0.43942	.	.	ENSG00000151572	ENST00000392979;ENST00000392977	T;T	0.69040	-0.36;-0.37	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000006	T	0.52661	0.1748	N	0.12853	0.265	0.80722	D	1	B;B	0.32302	0.067;0.363	B;B	0.39840	0.224;0.311	T	0.54043	-0.8352	10	0.38643	T	0.18	.	11.1317	0.48351	0.0:0.8895:0.0:0.1105	.	379;344	Q32M45;Q32M45-2	ANO4_HUMAN;.	V	344;379	ENSP00000376705:L344V;ENSP00000376703:L379V	ENSP00000376703:L379V	L	+	1	2	ANO4	99960358	0.590000	0.26815	1.000000	0.80357	0.958000	0.62258	0.848000	0.27710	2.761000	0.94854	0.655000	0.94253	CTG		PASS	0.483	ANO4-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000409295.1	NM_178826		28	98	28	98	---	---	---	---
KIAA1033	23325	broad.mit.edu	37	12	105543464	105543464	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:105543464C>G	ENST00000332180.5	+	25	2673	c.2586C>G	c.(2584-2586)atC>atG	p.I862M		NM_015275.1	NP_056090.1			KIAA1033									p.I862M(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						ATGAACACATCAAATCCAGAT	0.269																																						uc001tld.2																			1	Substitution - Missense(1)		lung(1)	kidney(1)|central_nervous_system(1)	2						c.(2584-2586)ATC>ATG		hypothetical protein LOC23325							81.0	83.0	82.0					12																	105543464		1797	4040	5837	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105543464C>G	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2586C>G	12.37:g.105543464C>G	ENSP00000328062:p.Ile862Met					KIAA1033_uc010swr.1_Missense_Mutation_p.I863M|KIAA1033_uc010sws.1_Missense_Mutation_p.I674M	p.I862M	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN			25	2673	+			862						Missense_Mutation	SNP	ENST00000332180.5	37	c.2586C>G	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.246167	0.80024	.	.	ENSG00000136051	ENST00000332180	T	0.59364	0.27	5.52	4.63	0.57726	.	0.102319	0.64402	D	0.000002	T	0.75079	0.3801	M	0.89095	3.005	0.58432	D	0.999999	D;D	0.55800	0.973;0.973	P;P	0.59115	0.852;0.852	T	0.79943	-0.1590	10	0.87932	D	0	.	12.0701	0.53611	0.0:0.9209:0.0:0.0791	.	863;862	B7ZKT9;Q2M389	.;WASH7_HUMAN	M	862	ENSP00000328062:I862M	ENSP00000328062:I862M	I	+	3	3	KIAA1033	104067594	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.856000	0.62932	2.583000	0.87209	0.557000	0.71058	ATC		PASS	0.269	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		60	156	60	156	---	---	---	---
RIC8B	55188	broad.mit.edu	37	12	107279770	107279770	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:107279770G>C	ENST00000392839.2	+	9	1646	c.1540G>C	c.(1540-1542)Gag>Cag	p.E514Q	RIC8B_ENST00000392837.4_Missense_Mutation_p.E554Q|RIC8B_ENST00000355478.2_3'UTR|RIC8B_ENST00000549643.1_Missense_Mutation_p.E24Q	NM_018157.2	NP_060627.2	Q9NVN3	RIC8B_HUMAN	RIC8 guanine nucleotide exchange factor B	514					regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	G-protein alpha-subunit binding (GO:0001965)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E514Q(1)		kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						TGTCATCGAAGAGACCAGCTC	0.433																																						uc001tlx.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1540-1542)GAG>CAG		resistance to inhibitors of cholinesterase 8							116.0	115.0	115.0					12																	107279770		1947	4148	6095	SO:0001583	missense	55188				regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity	g.chr12:107279770G>C	AK128102	CCDS9109.2	12q23.3	2013-08-05	2013-08-05		ENSG00000111785	ENSG00000111785			25555	protein-coding gene	gene with protein product		609147	"""resistance to inhibitors of cholinesterase 8 homolog B (C. elegans)"""				Standard	XM_005268998		Approved	FLJ10620, hSyn, RIC8	uc001tlx.3	Q9NVN3	OTTHUMG00000144188	ENST00000392839.2:c.1540G>C	12.37:g.107279770G>C	ENSP00000376583:p.Glu514Gln					RIC8B_uc001tly.2_3'UTR|RIC8B_uc001tlz.2_RNA|RIC8B_uc009zur.2_RNA	p.E514Q	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN			9	1665	+			514					A2RTZ0|Q4G103|Q6ZRN4|Q86WD3	Missense_Mutation	SNP	ENST00000392839.2	37	c.1540G>C	CCDS9109.2	.	.	.	.	.	.	.	.	.	.	G	9.411	1.080593	0.20309	.	.	ENSG00000111785	ENST00000392837;ENST00000392839;ENST00000549643	.	.	.	5.73	5.73	0.89815	.	0.209958	0.28996	U	0.013466	T	0.34048	0.0884	N	0.19112	0.55	0.22199	N	0.99929	B	0.11235	0.004	B	0.04013	0.001	T	0.10042	-1.0647	9	0.25106	T	0.35	-7.0333	15.5188	0.75846	0.0:0.1477:0.8523:0.0	.	514	Q9NVN3	RIC8B_HUMAN	Q	554;514;24	.	ENSP00000376582:E554Q	E	+	1	0	RIC8B	105803900	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.884000	0.48562	2.861000	0.98227	0.655000	0.94253	GAG		PASS	0.433	RIC8B-006	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000291398.2	NM_018157		31	142	31	142	---	---	---	---
FOXN4	121643	broad.mit.edu	37	12	109724503	109724503	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:109724503G>A	ENST00000299162.5	-	7	747	c.643C>T	c.(643-645)Cct>Tct	p.P215S	FOXN4_ENST00000355216.1_Missense_Mutation_p.P35S	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	215					amacrine cell differentiation (GO:0035881)|atrioventricular canal development (GO:0036302)|heart looping (GO:0001947)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of heart contraction (GO:0008016)|regulation of transcription, DNA-templated (GO:0006355)|retina layer formation (GO:0010842)|transcription, DNA-templated (GO:0006351)|ventral spinal cord interneuron fate commitment (GO:0060579)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P215S(1)|p.P35S(1)		large_intestine(5)|lung(9)|ovary(2)	16						TCGCTCACAGGCAGGCTGCCT	0.627																																						uc001toe.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(643-645)CCT>TCT		forkhead box N4							101.0	73.0	82.0					12																	109724503		2203	4300	6503	SO:0001583	missense	121643				axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr12:109724503G>A	AF425596	CCDS9126.2	12q24.12	2008-02-05			ENSG00000139445	ENSG00000139445		"""Forkhead boxes"""	21399	protein-coding gene	gene with protein product		609429					Standard	NM_213596		Approved		uc001toe.4	Q96NZ1	OTTHUMG00000152868	ENST00000299162.5:c.643C>T	12.37:g.109724503G>A	ENSP00000299162:p.Pro215Ser					FOXN4_uc009zvg.2_Missense_Mutation_p.P12S|FOXN4_uc001tof.3_Missense_Mutation_p.P35S	p.P215S	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN			7	748	-			215			Fork-head.		Q6ZMR4|Q96NZ0	Missense_Mutation	SNP	ENST00000299162.5	37	c.643C>T	CCDS9126.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.085563|4.085563	0.76642|0.76642	.|.	.|.	ENSG00000139445|ENSG00000139445	ENST00000266856|ENST00000355216;ENST00000299162	.|D;D	.|0.94793	.|-3.52;-3.52	4.4|4.4	4.4|4.4	0.53042|0.53042	.|Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.95661|0.95661	0.8589|0.8589	L|L	0.45228|0.45228	1.405|1.405	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.993;0.999	.|D;D	.|0.74348	.|0.972;0.983	D|D	0.95998|0.95998	0.8991|0.8991	6|10	0.87932|0.56958	D|D	0|0.05	4.1397|4.1397	16.3552|16.3552	0.83233|0.83233	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|215;215	.|A6H901;Q96NZ1	.|.;FOXN4_HUMAN	V|S	173|35;215	.|ENSP00000347354:P35S;ENSP00000299162:P215S	ENSP00000266856:A173V|ENSP00000299162:P215S	A|P	-|-	2|1	0|0	FOXN4|FOXN4	108208886|108208886	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.975000|0.975000	0.68041|0.68041	9.823000|9.823000	0.99369|0.99369	2.171000|2.171000	0.68590|0.68590	0.491000|0.491000	0.48974|0.48974	GCC|CCT		PASS	0.627	FOXN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328306.1	XM_062735		7	22	7	22	---	---	---	---
TCTN1	79600	broad.mit.edu	37	12	111066671	111066671	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:111066671C>T	ENST00000551590.1	+	4	728	c.572C>T	c.(571-573)tCa>tTa	p.S191L	TCTN1_ENST00000397655.3_Missense_Mutation_p.S191L|HVCN1_ENST00000548312.1_Intron|RN7SL387P_ENST00000581015.1_RNA|TCTN1_ENST00000397659.4_Missense_Mutation_p.S191L|TCTN1_ENST00000550703.2_Missense_Mutation_p.S191L|TCTN1_ENST00000551555.2_3'UTR|TCTN1_ENST00000377654.3_Missense_Mutation_p.S13L			Q2MV58	TECT1_HUMAN	tectonic family member 1	191					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)		p.S191L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						AATGCTGAATCATATGTTTCC	0.333																																						uc009zvs.2																			1	Substitution - Missense(1)		lung(1)		0						c.(571-573)TCA>TTA		tectonic family member 1 isoform 2							154.0	154.0	154.0					12																	111066671		1862	4103	5965	SO:0001583	missense	79600				multicellular organismal development	extracellular region		g.chr12:111066671C>T	AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.572C>T	12.37:g.111066671C>T	ENSP00000448735:p.Ser191Leu					TCTN1_uc010syb.1_Missense_Mutation_p.S191L|TCTN1_uc009zvr.1_RNA|TCTN1_uc001trl.2_RNA|TCTN1_uc001trm.2_Missense_Mutation_p.S131L|TCTN1_uc010syc.1_RNA|TCTN1_uc001tro.2_RNA|TCTN1_uc001trp.3_Missense_Mutation_p.S191L|TCTN1_uc001trn.3_Missense_Mutation_p.S191L|TCTN1_uc001tri.2_Missense_Mutation_p.S135L|TCTN1_uc001trj.1_Missense_Mutation_p.S135L|TCTN1_uc001trk.3_RNA|HVCN1_uc001trq.1_Intron	p.S191L	NM_001082537	NP_001076006	Q2MV58	TECT1_HUMAN			4	680	+			191					A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	ENST00000551590.1	37	c.572C>T	CCDS41835.1	.	.	.	.	.	.	.	.	.	.	C	19.70	3.877355	0.72294	.	.	ENSG00000204852	ENST00000397650;ENST00000551590;ENST00000397655;ENST00000377654;ENST00000547868;ENST00000548095;ENST00000397657;ENST00000397659;ENST00000397652	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	4.88	4.88	0.63580	Domain of unknown function DUF1619 (1);	1.056860	0.07374	N	0.886220	D	0.85712	0.5760	M	0.74881	2.28	0.31277	N	0.691051	B;B;B;B;B;B;B	0.26809	0.097;0.063;0.107;0.051;0.063;0.03;0.16	B;B;B;B;B;B;B	0.27170	0.077;0.046;0.041;0.041;0.063;0.027;0.044	T	0.80580	-0.1319	10	0.72032	D	0.01	-14.063	17.1575	0.86795	0.0:1.0:0.0:0.0	.	191;191;191;191;131;135;135	B4DIB9;Q2MV58;Q2MV58-3;Q2MV58-2;C9J1H5;C9J1H4;Q05BR9	.;TECT1_HUMAN;.;.;.;.;.	L	131;191;191;13;13;191;13;191;135	ENSP00000448735:S191L;ENSP00000380775:S191L;ENSP00000366882:S13L;ENSP00000380779:S191L	ENSP00000366882:S13L	S	+	2	0	TCTN1	109551054	0.999000	0.42202	0.996000	0.52242	0.962000	0.63368	2.259000	0.43259	2.423000	0.82170	0.655000	0.94253	TCA		PASS	0.333	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316016.2	NM_024549		28	52	28	52	---	---	---	---
HECTD4	283450	broad.mit.edu	37	12	112617177	112617177	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:112617177C>G	ENST00000430131.2	-	62	10891	c.9746G>C	c.(9745-9747)aGa>aCa	p.R3249T	HECTD4_ENST00000377560.5_Missense_Mutation_p.R3499T|HECTD4_ENST00000550722.1_Missense_Mutation_p.R3525T			Q9Y4D8	HECD4_HUMAN	HECT domain containing E3 ubiquitin protein ligase 4	3249					glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.R3499T(1)|p.R3249T(1)									CAGAACCTCTCTGGCTCCGGG	0.537																																						uc009zwc.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|lung(1)	2						c.(9745-9747)AGA>ACA		chromosome 12 open reading frame 51							43.0	46.0	45.0					12																	112617177		2002	4195	6197	SO:0001583	missense	283450							g.chr12:112617177C>G	AK091473		12q24.13	2013-07-17	2012-08-14	2012-08-14	ENSG00000173064	ENSG00000173064			26611	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 51"""	C12orf51		21270382	Standard	NM_001109662		Approved	FLJ34154, KIAA0614	uc021reb.1	Q9Y4D8	OTTHUMG00000150719	ENST00000430131.2:c.9746G>C	12.37:g.112617177C>G	ENSP00000404379:p.Arg3249Thr						p.R3249T	NM_001109662	NP_001103132					56	9764	-								L8B0P6|Q3MJD5|Q6P0A0|Q7L530|Q8NB70|Q8WU73|Q96NT9|Q9NZS4|Q9UFT6	Missense_Mutation	SNP	ENST00000430131.2	37	c.9746G>C		.	.	.	.	.	.	.	.	.	.	C	18.63	3.666321	0.67814	.	.	ENSG00000173064	ENST00000377560;ENST00000430131;ENST00000550722	T;T;T	0.48522	0.81;0.82;0.81	5.68	4.79	0.61399	.	.	.	.	.	T	0.36276	0.0961	N	0.19112	0.55	0.44843	D	0.997859	B	0.17038	0.02	B	0.19946	0.027	T	0.19353	-1.0308	9	0.87932	D	0	.	14.5892	0.68351	0.0:0.9299:0.0:0.0701	.	3249	Q9Y4D8	K0614_HUMAN	T	3499;3249;3525	ENSP00000366783:R3499T;ENSP00000404379:R3249T;ENSP00000449784:R3525T	ENSP00000366783:R3499T	R	-	2	0	C12orf51	111101560	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.378000	0.79679	1.409000	0.46915	0.591000	0.81541	AGA		PASS	0.537	HECTD4-202	KNOWN	basic	protein_coding	protein_coding		NM_173813		7	19	7	19	---	---	---	---
RPH3A	22895	broad.mit.edu	37	12	113325651	113325651	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:113325651G>A	ENST00000389385.4	+	17	1983	c.1486G>A	c.(1486-1488)Gag>Aag	p.E496K	RPH3A_ENST00000420983.2_Missense_Mutation_p.E496K|RPH3A_ENST00000447659.2_Missense_Mutation_p.E447K|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000548866.1_Missense_Mutation_p.E447K|RPH3A_ENST00000551052.1_Missense_Mutation_p.E492K|RPH3A_ENST00000543106.2_Missense_Mutation_p.E496K|RPH3A_ENST00000415485.3_Missense_Mutation_p.E496K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	496	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.E492K(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		ATTTATTGGTGAGACCAGATT	0.458																																						uc010syl.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|central_nervous_system(2)|skin(2)	7						c.(1486-1488)GAG>AAG		rabphilin 3A homolog isoform 1							155.0	158.0	157.0					12																	113325651		2203	4300	6503	SO:0001583	missense	22895				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	g.chr12:113325651G>A	AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1486G>A	12.37:g.113325651G>A	ENSP00000374036:p.Glu496Lys					RPH3A_uc001ttz.2_Missense_Mutation_p.E496K|RPH3A_uc001tty.2_Missense_Mutation_p.E492K|RPH3A_uc009zwe.1_Missense_Mutation_p.E492K|RPH3A_uc010sym.1_Missense_Mutation_p.E447K|RPH3A_uc001tua.2_Missense_Mutation_p.E256K	p.E496K	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.00453)	17	1848	+			496			C2 1.		B7Z3C3|Q96AE0	Missense_Mutation	SNP	ENST00000389385.4	37	c.1486G>A	CCDS44979.1	.	.	.	.	.	.	.	.	.	.	G	35	5.447141	0.96205	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;2.32;2.32;2.32	5.2	5.2	0.72013	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.092536	0.44483	D	0.000445	T	0.37489	0.1005	L	0.58354	1.805	0.80722	D	1	P;P;P;P	0.52692	0.833;0.955;0.955;0.728	P;P;P;P	0.61722	0.667;0.893;0.893;0.667	T	0.09228	-1.0684	10	0.87932	D	0	.	17.5323	0.87818	0.0:0.0:1.0:0.0	.	447;496;496;492	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	K	496;496;447;492;496;447;496;148	ENSP00000440384:E496K;ENSP00000374036:E496K;ENSP00000413254:E447K;ENSP00000448297:E492K;ENSP00000405357:E496K;ENSP00000450347:E447K;ENSP00000408889:E496K	ENSP00000374036:E496K	E	+	1	0	RPH3A	111810034	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.476000	0.97823	2.442000	0.82660	0.591000	0.81541	GAG		PASS	0.458	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405561.1	NM_014954		31	223	31	223	---	---	---	---
DDX54	79039	broad.mit.edu	37	12	113617062	113617062	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:113617062G>T	ENST00000306014.5	-	4	477	c.450C>A	c.(448-450)ttC>ttA	p.F150L	Y_RNA_ENST00000364338.1_RNA|DDX54_ENST00000314045.7_Missense_Mutation_p.F150L	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	150	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)	p.F150L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTGGGAGGAGGAAGCAGGCTG	0.657																																						uc001tup.2																			1	Substitution - Missense(1)		lung(1)	skin(2)|central_nervous_system(1)	3						c.(448-450)TTC>TTA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							46.0	43.0	44.0					12																	113617062		2203	4300	6503	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113617062G>T	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.450C>A	12.37:g.113617062G>T	ENSP00000304072:p.Phe150Leu					DDX54_uc001tuq.3_Missense_Mutation_p.F150L	p.F150L	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			4	478	-			150			Helicase ATP-binding.		Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.450C>A	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584510	0.86748	.	.	ENSG00000123064	ENST00000314045;ENST00000306014;ENST00000552375	T;T;T	0.51817	0.69;0.69;0.69	5.48	2.7	0.31948	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.93939	3.475	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.75712	-0.3222	10	0.87932	D	0	.	10.1616	0.42855	0.2173:0.0:0.7827:0.0	.	150;150	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	L	150;150;67	ENSP00000323858:F150L;ENSP00000304072:F150L;ENSP00000448477:F67L	ENSP00000304072:F150L	F	-	3	2	DDX54	112101445	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.699000	0.54778	0.298000	0.22638	0.462000	0.41574	TTC		PASS	0.657	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		12	32	12	32	---	---	---	---
TBX3	6926	broad.mit.edu	37	12	115110029	115110029	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:115110029C>T	ENST00000257566.3	-	8	2238	c.1849G>A	c.(1849-1851)Gcg>Acg	p.A617T	TBX3_ENST00000349155.2_Missense_Mutation_p.A597T	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	617	Transcription repression.			SAAASSSVHRHPF -> LRQPQLRCTAPL (in Ref. 1). {ECO:0000305}.	anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A617T(1)		breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		GAGGCTGCCGCAGAGGAGGCG	0.667																																						uc001tvt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(1849-1851)GCG>ACG		T-box 3 protein isoform 2							6.0	6.0	6.0					12																	115110029		2006	3996	6002	SO:0001583	missense	6926				anterior/posterior axis specification, embryo|anti-apoptosis|cell aging|embryonic arm morphogenesis|embryonic digit morphogenesis|female genitalia development|follicle-stimulating hormone secretion|luteinizing hormone secretion|male genitalia development|mesoderm morphogenesis|negative regulation of myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle|positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter|skeletal system development	nucleus	sequence-specific DNA binding	g.chr12:115110029C>T	BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.1849G>A	12.37:g.115110029C>T	ENSP00000257566:p.Ala617Thr					TBX3_uc001tvu.1_Missense_Mutation_p.A597T	p.A617T	NM_016569	NP_057653	O15119	TBX3_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0574)	8	2813	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		617	SAAASSSVHRHPF -> LRQPQLRCTAPL (in Ref. 1).		Transcription repression.		Q8TB20|Q9UKF8	Missense_Mutation	SNP	ENST00000257566.3	37	c.1849G>A	CCDS9176.1	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884254	0.51908	.	.	ENSG00000135111	ENST00000349155;ENST00000257566	D;D	0.90504	-2.53;-2.68	4.35	4.35	0.52113	.	0.432414	0.28192	N	0.016250	D	0.93449	0.7910	M	0.64997	1.995	0.44798	D	0.997804	B;D	0.63880	0.001;0.993	B;D	0.68192	0.005;0.956	D	0.91832	0.5476	10	0.23891	T	0.37	.	15.4201	0.75003	0.0:1.0:0.0:0.0	.	597;617	O15119-2;O15119	.;TBX3_HUMAN	T	597;617	ENSP00000257567:A597T;ENSP00000257566:A617T	ENSP00000257566:A617T	A	-	1	0	TBX3	113594412	1.000000	0.71417	0.105000	0.21289	0.641000	0.38312	1.931000	0.40134	1.964000	0.57103	0.655000	0.94253	GCG		PASS	0.667	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404947.2	NM_016569, NM_005996		5	7	5	7	---	---	---	---
PXN	5829	broad.mit.edu	37	12	120660757	120660757	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:120660757C>T	ENST00000228307.7	-	4	543	c.402G>A	c.(400-402)atG>atA	p.M134I	PXN_ENST00000424649.2_Missense_Mutation_p.M134I|PXN_ENST00000536957.1_Missense_Mutation_p.M132I|PXN_ENST00000538144.1_5'UTR|PXN_ENST00000458477.2_Start_Codon_SNP_p.M1I|PXN_ENST00000267257.7_Missense_Mutation_p.M134I	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin	134					activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.M134I(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGACGTGCTCATTACGGTGG	0.547																																						uc001txt.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|breast(1)	2						c.(400-402)ATG>ATA		paxillin isoform 1							116.0	119.0	118.0					12																	120660757		2062	4192	6254	SO:0001583	missense	5829				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	g.chr12:120660757C>T	U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.402G>A	12.37:g.120660757C>T	ENSP00000228307:p.Met134Ile					PXN_uc001txv.2_Missense_Mutation_p.M1I|PXN_uc001txx.2_Missense_Mutation_p.M1I|PXN_uc001txy.2_Missense_Mutation_p.M134I|PXN_uc001txz.2_RNA|uc001tya.2_5'Flank	p.M134I	NM_001080855	NP_001074324	P49023	PAXI_HUMAN			4	533	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		134					B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	ENST00000228307.7	37	c.402G>A	CCDS44997.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.183699	0.78677	.	.	ENSG00000089159	ENST00000458477;ENST00000228307;ENST00000424649;ENST00000536957;ENST00000267257;ENST00000543331;ENST00000546532;ENST00000548912;ENST00000552550	T;T;T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.2	5.2	0.72013	.	0.130729	0.64402	D	0.000002	T	0.52805	0.1757	M	0.70275	2.135	0.80722	D	1	B;P;P	0.43287	0.161;0.731;0.802	B;B;P	0.46796	0.079;0.318;0.527	T	0.54139	-0.8338	10	0.42905	T	0.14	-12.6843	10.4024	0.44237	0.0:0.7887:0.1363:0.0749	.	134;134;134	P49023-2;P49023-3;P49023	.;.;PAXI_HUMAN	I	1;134;134;132;134;135;1;1;1	ENSP00000395536:M1I;ENSP00000228307:M134I;ENSP00000391283:M134I;ENSP00000443887:M132I;ENSP00000267257:M134I;ENSP00000443745:M135I;ENSP00000447180:M1I;ENSP00000446607:M1I;ENSP00000446650:M1I	ENSP00000228307:M134I	M	-	3	0	PXN	119145140	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.017000	0.49615	2.442000	0.82660	0.591000	0.81541	ATG		PASS	0.547	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402679.4	NM_002859		21	70	21	70	---	---	---	---
ZCCHC8	55596	broad.mit.edu	37	12	122958049	122958049	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:122958049C>G	ENST00000336229.4	-	14	2249	c.2119G>C	c.(2119-2121)Gaa>Caa	p.E707Q	ZCCHC8_ENST00000538116.1_Missense_Mutation_p.E318Q|ZCCHC8_ENST00000536306.1_Missense_Mutation_p.E469Q|ZCCHC8_ENST00000543897.1_Missense_Mutation_p.E469Q	NM_017612.3	NP_060082.2	Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	707					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E707Q(1)		endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		AGCCATTATTCAGAGGCCTTT	0.368																																						uc001ucn.2																			1	Substitution - Missense(1)		lung(1)		0						c.(2119-2121)GAA>CAA		zinc finger, CCHC domain containing 8							96.0	85.0	89.0					12																	122958049		1830	4083	5913	SO:0001583	missense	55596					catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding	g.chr12:122958049C>G	BC017704		12q24.31	2014-04-14				ENSG00000033030		"""Zinc fingers, CCHC domain containing"""	25265	protein-coding gene	gene with protein product						12477932	Standard	XM_005253581		Approved	DKFZp434E2220	uc001ucn.3	Q6NZY4		ENST00000336229.4:c.2119G>C	12.37:g.122958049C>G	ENSP00000337313:p.Glu707Gln					ZCCHC8_uc001ucl.2_Missense_Mutation_p.E318Q|ZCCHC8_uc001ucm.2_Missense_Mutation_p.E469Q|ZCCHC8_uc009zxp.2_Missense_Mutation_p.E469Q|ZCCHC8_uc009zxq.2_Missense_Mutation_p.E469Q	p.E707Q	NM_017612	NP_060082	Q6NZY4	ZCHC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)	14	2250	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		707					Q7L2P6|Q8N2K5|Q96SK7|Q9NSS2|Q9NSS3	Missense_Mutation	SNP	ENST00000336229.4	37	c.2119G>C		.	.	.	.	.	.	.	.	.	.	C	12.07	1.828200	0.32329	.	.	ENSG00000033030	ENST00000536306;ENST00000543897;ENST00000336229;ENST00000538116	T;T;T;T	0.54279	0.61;0.61;0.58;0.61	5.66	5.66	0.87406	.	0.261257	0.33670	N	0.004665	T	0.37348	0.1000	N	0.08118	0	0.09310	N	1	P	0.36065	0.535	B	0.39805	0.31	T	0.43798	-0.9369	10	0.66056	D	0.02	.	13.3938	0.60838	0.1569:0.8431:0.0:0.0	.	707	Q6NZY4	ZCHC8_HUMAN	Q	469;469;707;318	ENSP00000441423:E469Q;ENSP00000438993:E469Q;ENSP00000337313:E707Q;ENSP00000440028:E318Q	ENSP00000337313:E707Q	E	-	1	0	ZCCHC8	121524002	0.001000	0.12720	0.125000	0.21846	0.626000	0.37791	0.274000	0.18680	2.675000	0.91044	0.650000	0.86243	GAA		PASS	0.368	ZCCHC8-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_017612		13	54	13	54	---	---	---	---
MPHOSPH9	10198	broad.mit.edu	37	12	123687559	123687559	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr12:123687559G>A	ENST00000606320.1	-	10	1599	c.1393C>T	c.(1393-1395)Ccg>Tcg	p.P465S	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.P313S|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.P313S|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.P435S			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	465						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P313S(1)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		AGGGCATTCGGAAGGCCGTGA	0.458																																						uc001uel.2																			1	Substitution - Missense(1)		lung(1)		0						c.(937-939)CCG>TCG		M-phase phosphoprotein 9							113.0	123.0	119.0					12																	123687559		2203	4300	6503	SO:0001583	missense	10198				M phase of mitotic cell cycle	centriole|Golgi membrane		g.chr12:123687559G>A	X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.1393C>T	12.37:g.123687559G>A	ENSP00000475489:p.Pro465Ser					MPHOSPH9_uc010tal.1_Intron|MPHOSPH9_uc010tam.1_RNA|MPHOSPH9_uc001uem.2_Intron	p.P313S	NM_022782	NP_073619	Q99550	MPP9_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)	6	1044	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		313					A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	ENST00000606320.1	37	c.937C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	2.828|2.828	-0.243189|-0.243189	0.05906|0.05906	.|.	.|.	ENSG00000051825|ENSG00000257076	ENST00000302349;ENST00000541076|ENST00000539336	T;T|.	0.30714|.	1.52;1.54|.	5.77|5.77	-6.99|-6.99	0.01605|0.01605	.|.	1.277230|.	0.05389|.	N|.	0.538667|.	T|T	0.23451|0.23451	0.0567|0.0567	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	B|.	0.06786|.	0.001|.	B|.	0.08055|.	0.003|.	T|T	0.32851|0.32851	-0.9891|-0.9891	10|5	0.30854|.	T|.	0.27|.	0.2482|0.2482	11.87|11.87	0.52515|0.52515	0.2801:0.1907:0.5293:0.0|0.2801:0.1907:0.5293:0.0	.|.	313|.	Q99550|.	MPP9_HUMAN|.	S|F	313|322	ENSP00000303597:P313S;ENSP00000445859:P313S|.	ENSP00000303597:P313S|.	P|S	-|-	1|2	0|0	MPHOSPH9|RP11-546D6.2	122253512|122253512	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.083000|0.083000	0.17756|0.17756	-0.688000|-0.688000	0.05150|0.05150	-1.202000|-1.202000	0.02655|0.02655	-0.484000|-0.484000	0.04775|0.04775	CCG|TCC		PASS	0.458	MPHOSPH9-030	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000471390.2			75	169	75	169	---	---	---	---
N4BP2L1	90634	broad.mit.edu	37	13	33002142	33002142	+	Silent	SNP	G	G	A	rs536170827	byFrequency	TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr13:33002142G>A	ENST00000380133.2	-	1	128	c.78C>T	c.(76-78)ccC>ccT	p.P26P	N4BP2L1_ENST00000380139.4_Silent_p.P26P|N4BP2L1_ENST00000380130.2_Silent_p.P26P|RP11-298P3.4_ENST00000461502.1_RNA			Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1	26								p.P26P(2)		large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		ggggcggccggggcggccgct	0.677																																						uc001uuc.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(76-78)CCC>CCT		NEDD4 binding protein 2-like 1 isoform 1																																				SO:0001819	synonymous_variant	90634				cell killing		ATP binding	g.chr13:33002142G>A	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697	ENST00000380133.2:c.78C>T	13.37:g.33002142G>A						N4BP2L1_uc001uud.2_Silent_p.P26P|N4BP2L1_uc010tdy.1_Silent_p.P26P|N4BP2L1_uc001uuf.2_Silent_p.P26P	p.P26P	NM_052818	NP_438169	Q5TBK1	N42L1_HUMAN		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)	1	174	-		Lung SC(185;0.0262)	26					A4QN21|Q5TBK0	Silent	SNP	ENST00000380133.2	37	c.78C>T	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	G	0.832	-0.744937	0.03065	.	.	ENSG00000139597	ENST00000343281	.	.	.	3.74	1.92	0.25849	.	1.586630	0.03900	N	0.280121	T	0.18383	0.0441	.	.	.	0.19945	N	0.999945	.	.	.	.	.	.	T	0.16928	-1.0386	6	0.11182	T	0.66	.	6.4333	0.21809	0.0:0.6931:0.1954:0.1115	.	.	.	.	S	4	.	ENSP00000345838:P4S	P	-	1	0	N4BP2L1	31900142	0.457000	0.25752	0.651000	0.29564	0.068000	0.16541	0.042000	0.13949	0.769000	0.33313	-0.321000	0.08615	CCG		PASS	0.677	N4BP2L1-002	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044412.2	NM_052818		5	6	5	6	---	---	---	---
MAB21L1	4081	broad.mit.edu	37	13	36049686	36049686	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr13:36049686G>T	ENST00000379919.4	-	1	1146	c.590C>A	c.(589-591)cCc>cAc	p.P197H	NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	197					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)		p.P197H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		CACCCGGTTGGGTCCCGGCCA	0.642																																						uc001uvc.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(589-591)CCC>CAC		mab-21-like protein 1							42.0	50.0	47.0					13																	36049686		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36049686G>T	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.590C>A	13.37:g.36049686G>T	ENSP00000369251:p.Pro197His					NBEA_uc001uvb.2_Intron|NBEA_uc010abi.2_Intron|NBEA_uc010tee.1_Intron|NBEA_uc010tef.1_5'Flank|NBEA_uc010teg.1_5'Flank	p.P197H	NM_005584	NP_005575	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	1147	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	197					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.590C>A	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.959494	0.74016	.	.	ENSG00000180660	ENST00000379919	T	0.09350	2.99	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.37128	0.0992	M	0.81682	2.555	0.80722	D	1	D	0.64830	0.994	D	0.67900	0.954	T	0.03278	-1.1053	10	0.48119	T	0.1	-33.3491	19.9576	0.97228	0.0:0.0:1.0:0.0	.	197	Q13394	MB211_HUMAN	H	197	ENSP00000369251:P197H	ENSP00000369251:P197H	P	-	2	0	MAB21L1	34947686	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	CCC		PASS	0.642	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		28	47	28	47	---	---	---	---
LRCH1	23143	broad.mit.edu	37	13	47127780	47127780	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr13:47127780G>C	ENST00000389798.3	+	1	446	c.249G>C	c.(247-249)ttG>ttC	p.L83F	LRCH1_ENST00000311191.6_Missense_Mutation_p.L83F|LRCH1_ENST00000389797.3_Missense_Mutation_p.L83F	NM_015116.2	NP_055931	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	83								p.L83F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		CCAGGAAATTGAAGGAATTTC	0.692																																						uc001vbj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(247-249)TTG>TTC		leucine-rich repeats and calponin homology (CH)							9.0	9.0	9.0					13																	47127780		2077	4126	6203	SO:0001583	missense	23143							g.chr13:47127780G>C	AB023233	CCDS31972.1, CCDS53865.1, CCDS53866.1	13q14.11	2008-02-05	2004-05-27	2004-05-28	ENSG00000136141	ENSG00000136141			20309	protein-coding gene	gene with protein product		610368	"""calponin homology (CH) domain containing 1"""	CHDC1		10231032	Standard	NM_015116		Approved	KIAA1016	uc001vbk.3	Q9Y2L9	OTTHUMG00000016877	ENST00000389798.3:c.249G>C	13.37:g.47127780G>C	ENSP00000374448:p.Leu83Phe					LRCH1_uc010acp.2_Missense_Mutation_p.L83F|LRCH1_uc001vbk.2_Missense_Mutation_p.L83F|LRCH1_uc001vbl.3_Missense_Mutation_p.L83F	p.L83F	NM_015116	NP_055931	Q9Y2L9	LRCH1_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)	1	485	+		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	83					B7ZLL5|F8W6F0|Q17R43|Q2KHR1|Q5TBU9|Q7Z5F6|Q7Z5F7	Missense_Mutation	SNP	ENST00000389798.3	37	c.249G>C	CCDS31972.1	.	.	.	.	.	.	.	.	.	.	G	19.96	3.923290	0.73213	.	.	ENSG00000136141	ENST00000311191;ENST00000389798;ENST00000389797	T;T;T	0.25414	1.8;1.8;1.8	4.51	1.61	0.23674	.	0.129601	0.28203	N	0.016217	T	0.42810	0.1219	M	0.71871	2.18	0.53688	D	0.999977	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.91635	0.994;0.999;0.997;0.999	T	0.21042	-1.0257	10	0.59425	D	0.04	-16.9893	5.6306	0.17508	0.1768:0.2937:0.5295:0.0	.	83;83;83;83	Q17R43;Q9Y2L9-2;F8W6F0;Q9Y2L9	.;.;.;LRCH1_HUMAN	F	83	ENSP00000308493:L83F;ENSP00000374448:L83F;ENSP00000374447:L83F	ENSP00000308493:L83F	L	+	3	2	LRCH1	46025781	1.000000	0.71417	0.930000	0.37139	0.983000	0.72400	1.620000	0.36976	0.345000	0.23873	0.591000	0.81541	TTG		PASS	0.692	LRCH1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044824.2	NM_015116		5	8	5	8	---	---	---	---
OR4K14	122740	broad.mit.edu	37	14	20482684	20482684	+	Silent	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:20482684G>T	ENST00000305045.2	-	1	668	c.669C>A	c.(667-669)ctC>ctA	p.L223L		NM_001004712.1	NP_001004712.1	Q8NGD5	OR4KE_HUMAN	olfactory receptor, family 4, subfamily K, member 14	223						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L223L(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(20)|skin(6)	37	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGATAGCGAGGAGGATCACGG	0.498																																						uc010tky.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|large_intestine(1)	3						c.(667-669)CTC>CTA		olfactory receptor, family 4, subfamily K,							91.0	76.0	81.0					14																	20482684		2203	4300	6503	SO:0001819	synonymous_variant	122740				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20482684G>T		CCDS32027.1	14q11.2	2013-09-23			ENSG00000169484	ENSG00000169484		"""GPCR / Class A : Olfactory receptors"""	15352	protein-coding gene	gene with protein product							Standard	NM_001004712		Approved		uc010tky.2	Q8NGD5	OTTHUMG00000170780	ENST00000305045.2:c.669C>A	14.37:g.20482684G>T							p.L223L	NM_001004712	NP_001004712	Q8NGD5	OR4KE_HUMAN	Epithelial(56;4.65e-07)|all cancers(55;2e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	669	-	all_cancers(95;0.00108)		223			Cytoplasmic (Potential).		Q6IEU1|Q96R71	Silent	SNP	ENST00000305045.2	37	c.669C>A	CCDS32027.1																																																																																				PASS	0.498	OR4K14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410343.1			11	39	11	39	---	---	---	---
JPH4	84502	broad.mit.edu	37	14	24040504	24040504	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:24040504G>A	ENST00000397118.3	-	6	2338	c.1436C>T	c.(1435-1437)cCa>cTa	p.P479L	JPH4_ENST00000544177.1_Missense_Mutation_p.P144L|JPH4_ENST00000356300.4_Missense_Mutation_p.P479L	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	479					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.P479L(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		AGGAGGCAGTGGGCTCCGGCA	0.667																																						uc001wkq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(1435-1437)CCA>CTA		junctophilin 4							39.0	44.0	42.0					14																	24040504		2203	4299	6502	SO:0001583	missense	84502				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		g.chr14:24040504G>A	AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1436C>T	14.37:g.24040504G>A	ENSP00000380307:p.Pro479Leu					JPH4_uc010tnr.1_Missense_Mutation_p.P144L|JPH4_uc001wkr.2_Missense_Mutation_p.P479L	p.P479L	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	6	2354	-	all_cancers(95;0.000251)		479			Cytoplasmic (Potential).		D3DS53|Q8ND44|Q96DQ0	Missense_Mutation	SNP	ENST00000397118.3	37	c.1436C>T	CCDS9603.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968502	0.53614	.	.	ENSG00000092051	ENST00000356300;ENST00000397118;ENST00000543864;ENST00000267407;ENST00000544177	T;T;T	0.58940	0.3;0.3;0.63	5.17	4.22	0.49857	.	.	.	.	.	T	0.51822	0.1697	L	0.39245	1.2	0.42940	D	0.994342	P;B	0.46784	0.884;0.421	P;B	0.45538	0.484;0.108	T	0.55127	-0.8189	9	0.54805	T	0.06	.	11.1548	0.48480	0.0:0.1863:0.8137:0.0	.	144;479	F5H1L9;Q96JJ6	.;JPH4_HUMAN	L	479;479;479;480;144	ENSP00000348648:P479L;ENSP00000380307:P479L;ENSP00000439562:P144L	ENSP00000267407:P480L	P	-	2	0	JPH4	23110344	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.332000	0.43903	2.575000	0.86900	0.655000	0.94253	CCA		PASS	0.667	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413853.1	NM_032452		28	73	28	73	---	---	---	---
TGM1	7051	broad.mit.edu	37	14	24724586	24724586	+	Silent	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:24724586G>C	ENST00000206765.6	-	11	1752	c.1629C>G	c.(1627-1629)ctC>ctG	p.L543L	TGM1_ENST00000544573.1_Silent_p.L101L	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	543					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|organ morphogenesis (GO:0009887)|peptide cross-linking (GO:0018149)	cell-cell adherens junction (GO:0005913)|cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|intrinsic component of membrane (GO:0031224)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.L543L(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGTGCTTATAGAGGTAGGTGA	0.542																																						uc001wod.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1627-1629)CTC>CTG		transglutaminase 1	L-Glutamine(DB00130)						123.0	98.0	106.0					14																	24724586		2203	4300	6503	SO:0001819	synonymous_variant	7051				cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr14:24724586G>C	D90287	CCDS9622.1	14q11.2	2013-05-02	2013-05-02		ENSG00000092295	ENSG00000092295	2.3.2.13	"""Transglutaminases"""	11777	protein-coding gene	gene with protein product	"""K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase"""	190195	"""transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase)"""	ICR2		11390390	Standard	NM_000359		Approved	TGASE, TGK, LI, LI1	uc001wod.3	P22735	OTTHUMG00000029329	ENST00000206765.6:c.1629C>G	14.37:g.24724586G>C						TGM1_uc010tog.1_Silent_p.L101L	p.L543L	NM_000359	NP_000350	P22735	TGM1_HUMAN		GBM - Glioblastoma multiforme(265;0.0186)	11	1753	-			543					B4DWR7|Q197M4	Silent	SNP	ENST00000206765.6	37	c.1629C>G	CCDS9622.1																																																																																				PASS	0.542	TGM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073160.6	NM_000359		16	31	16	31	---	---	---	---
AKAP6	9472	broad.mit.edu	37	14	33293734	33293734	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:33293734G>T	ENST00000280979.4	+	13	6885	c.6715G>T	c.(6715-6717)Gca>Tca	p.A2239S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2239					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.A2239S(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGTGGCTGTGCAGAAAACTT	0.448																																					Melanoma(49;821 1200 7288 13647 42351)	uc001wrq.2																			1	Substitution - Missense(1)		lung(1)	breast(6)|ovary(5)|lung(4)|skin(3)|large_intestine(2)|pancreas(1)	21						c.(6715-6717)GCA>TCA		A-kinase anchor protein 6							68.0	68.0	68.0					14																	33293734		2203	4300	6503	SO:0001583	missense	9472				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	g.chr14:33293734G>T	AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.6715G>T	14.37:g.33293734G>T	ENSP00000280979:p.Ala2239Ser						p.A2239S	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)	13	6885	+	Breast(36;0.0388)|Prostate(35;0.15)		2239					A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	c.6715G>T	CCDS9644.1	.	.	.	.	.	.	.	.	.	.	G	10.16	1.274614	0.23307	.	.	ENSG00000151320	ENST00000280979	T	0.04970	3.52	5.68	0.548	0.17208	.	2.070980	0.01932	N	0.041306	T	0.05227	0.0139	L	0.36672	1.1	0.09310	N	1	B	0.20887	0.049	B	0.16722	0.016	T	0.35748	-0.9776	10	0.10636	T	0.68	4.3295	1.2955	0.02068	0.3845:0.1397:0.3331:0.1427	.	2239	Q13023	AKAP6_HUMAN	S	2239	ENSP00000280979:A2239S	ENSP00000280979:A2239S	A	+	1	0	AKAP6	32363485	0.000000	0.05858	0.000000	0.03702	0.026000	0.11368	0.112000	0.15479	-0.176000	0.10707	-0.140000	0.14226	GCA		PASS	0.448	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		13	53	13	53	---	---	---	---
PAX9	5083	broad.mit.edu	37	14	37132112	37132112	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:37132112C>T	ENST00000361487.6	+	2	240	c.15C>T	c.(13-15)ttC>ttT	p.F5F	PAX9_ENST00000402703.2_Silent_p.F5F|PAX9_ENST00000554201.1_5'UTR			P55771	PAX9_HUMAN	paired box 9	5	Paired. {ECO:0000255|PROSITE- ProRule:PRU00381}.				cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)	p.F5F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		AGCCAGCCTTCGGGGAGGTGA	0.662																																						uc001wty.3																			1	Substitution - coding silent(1)		lung(1)	upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)	3						c.(13-15)TTC>TTT		paired box 9							41.0	45.0	44.0					14																	37132112		2195	4283	6478	SO:0001819	synonymous_variant	5083				multicellular organismal development|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr14:37132112C>T	AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.15C>T	14.37:g.37132112C>T							p.F5F	NM_006194	NP_006185	P55771	PAX9_HUMAN	Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)	3	732	+	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		5			Paired.		Q99582|Q9UQR4	Silent	SNP	ENST00000361487.6	37	c.15C>T	CCDS9662.1																																																																																				PASS	0.662	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276733.2			32	76	32	76	---	---	---	---
MIPOL1	145282	broad.mit.edu	37	14	37717107	37717107	+	Nonsense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:37717107C>G	ENST00000327441.7	+	4	480	c.14C>G	c.(13-15)tCa>tGa	p.S5*	MIPOL1_ENST00000539062.2_5'UTR|MIPOL1_ENST00000536774.1_Intron|MIPOL1_ENST00000537471.1_Nonsense_Mutation_p.S5*|MIPOL1_ENST00000556451.1_5'UTR|MIPOL1_ENST00000396294.2_Nonsense_Mutation_p.S5*|MIPOL1_ENST00000545536.1_5'UTR	NM_001195296.1|NM_001195297.1|NM_138731.6	NP_001182225.1|NP_001182226.1|NP_620059.1	Q8TD10	MIPO1_HUMAN	mirror-image polydactyly 1	5						nucleus (GO:0005634)		p.S5*(1)		breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)		GAGAACTGGTCAAAAGGTAAG	0.373																																						uc001wuc.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(13-15)TCA>TGA		mirror-image polydactyly 1							124.0	125.0	125.0					14																	37717107		2203	4300	6503	SO:0001587	stop_gained	145282							g.chr14:37717107C>G	AY059470	CCDS9664.1	14q13.3	2010-05-25			ENSG00000151338	ENSG00000151338			21460	protein-coding gene	gene with protein product		606850				11954550, 19667180	Standard	NM_001195296		Approved		uc001wuc.3	Q8TD10	OTTHUMG00000140252	ENST00000327441.7:c.14C>G	14.37:g.37717107C>G	ENSP00000333539:p.Ser5*					MIPOL1_uc010amr.2_RNA|MIPOL1_uc001wub.3_5'UTR|MIPOL1_uc001wud.2_Nonsense_Mutation_p.S5*|MIPOL1_uc010ams.2_Nonsense_Mutation_p.S5*|MIPOL1_uc001wue.2_5'UTR|MIPOL1_uc010amt.2_Intron	p.S5*	NM_138731	NP_620059	Q8TD10	MIPO1_HUMAN	Lung(238;6.03e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.047)|all cancers(34;0.0953)|LUSC - Lung squamous cell carcinoma(13;0.0975)|BRCA - Breast invasive adenocarcinoma(188;0.196)	GBM - Glioblastoma multiforme(112;0.0358)	4	517	+	Breast(36;0.119)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		5					D3DSA4|Q7Z3J0|Q8IV14	Nonsense_Mutation	SNP	ENST00000327441.7	37	c.14C>G	CCDS9664.1	.	.	.	.	.	.	.	.	.	.	C	38	7.271643	0.98179	.	.	ENSG00000151338	ENST00000556615;ENST00000327441;ENST00000556753;ENST00000396294;ENST00000537471	.	.	.	5.27	4.38	0.52667	.	0.584494	0.13071	N	0.416135	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	4.1273	11.5891	0.50935	0.0:0.9177:0.0:0.0823	.	.	.	.	X	5	.	ENSP00000333539:S5X	S	+	2	0	MIPOL1	36786858	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.456000	0.53000	2.446000	0.82766	0.655000	0.94253	TCA		PASS	0.373	MIPOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276734.1	NM_138731		14	37	14	37	---	---	---	---
KLHL28	54813	broad.mit.edu	37	14	45414864	45414864	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:45414864C>A	ENST00000396128.4	-	2	387	c.268G>T	c.(268-270)Gtg>Ttg	p.V90L	KLHL28_ENST00000355081.2_Missense_Mutation_p.V104L	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	90	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.V90L(1)		breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCATACTCCACAATGGCCTGG	0.428																																						uc001wvq.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(268-270)GTG>TTG		BTB (POZ) domain containing 5							88.0	86.0	86.0					14																	45414864		2203	4300	6503	SO:0001583	missense	54813							g.chr14:45414864C>A	AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.268G>T	14.37:g.45414864C>A	ENSP00000379434:p.Val90Leu					KLHL28_uc001wvr.2_Missense_Mutation_p.V90L|KLHL28_uc001wvt.3_Missense_Mutation_p.V90L	p.V90L	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN			2	514	-			90			BTB.		Q0VAL5	Missense_Mutation	SNP	ENST00000396128.4	37	c.268G>T	CCDS9680.1	.	.	.	.	.	.	.	.	.	.	C	15.38	2.816712	0.50633	.	.	ENSG00000179454	ENST00000396128;ENST00000355081;ENST00000556500	T;T;T	0.44083	0.93;0.93;0.93	5.7	5.7	0.88788	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.104079	0.64402	D	0.000003	T	0.29976	0.0750	N	0.16602	0.42	0.43588	D	0.995933	B;B	0.18741	0.007;0.03	B;B	0.22601	0.012;0.04	T	0.09400	-1.0676	10	0.72032	D	0.01	.	12.7409	0.57253	0.0:0.9243:0.0:0.0757	.	90;90	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	L	90;104;90	ENSP00000379434:V90L;ENSP00000347193:V104L;ENSP00000452061:V90L	ENSP00000347193:V104L	V	-	1	0	KLHL28	44484614	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	3.655000	0.54460	2.696000	0.92011	0.655000	0.94253	GTG		PASS	0.428	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276790.3			25	56	25	56	---	---	---	---
KTN1	3895	broad.mit.edu	37	14	56138564	56138564	+	Missense_Mutation	SNP	A	A	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:56138564A>C	ENST00000395314.3	+	37	3568	c.3500A>C	c.(3499-3501)aAg>aCg	p.K1167T	KTN1_ENST00000395311.1_Missense_Mutation_p.K1144T|KTN1_ENST00000413890.2_Missense_Mutation_p.K1144T|KTN1_ENST00000438792.2_Missense_Mutation_p.K1138T|KTN1_ENST00000554507.1_Missense_Mutation_p.K433T|KTN1_ENST00000555573.1_Missense_Mutation_p.K172T|KTN1_ENST00000416613.1_Missense_Mutation_p.K1167T|KTN1_ENST00000395309.3_Missense_Mutation_p.K1167T|KTN1_ENST00000395308.1_Missense_Mutation_p.K1144T	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	1167					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)	p.K1167T(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TGGAAAGTTAAGGTCGATGAA	0.368			T	RET	papillary thryoid																																	uc001xcb.2				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		1	Substitution - Missense(1)		lung(1)	breast(3)|ovary(2)|lung(1)|central_nervous_system(1)	7						c.(3499-3501)AAG>ACG		kinectin 1 isoform a							85.0	87.0	87.0					14																	56138564		2203	4300	6503	SO:0001583	missense	3895				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56138564A>C		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.3500A>C	14.37:g.56138564A>C	ENSP00000378725:p.Lys1167Thr					KTN1_uc001xce.2_Missense_Mutation_p.K1138T|KTN1_uc001xcc.2_Missense_Mutation_p.K1167T|KTN1_uc001xcd.2_Missense_Mutation_p.K1144T|KTN1_uc010trb.1_Missense_Mutation_p.K1167T|KTN1_uc001xcf.1_Missense_Mutation_p.K1144T|KTN1_uc010aoq.2_Missense_Mutation_p.K433T|KTN1_uc010trc.1_Missense_Mutation_p.K172T|KTN1_uc001xcg.2_Missense_Mutation_p.K128T	p.K1167T	NM_182926	NP_891556	Q86UP2	KTN1_HUMAN			38	3802	+			1167			Lumenal (Potential).|Potential.		B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.3500A>C	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	A	18.88	3.717094	0.68844	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613;ENST00000554507;ENST00000553624;ENST00000555573	T;T;T;T;T;T;T;T;T;T	0.78595	1.17;1.17;1.17;1.17;1.17;1.17;1.17;-1.19;1.17;-1.19	5.53	4.39	0.52855	.	0.107871	0.40385	N	0.001112	D	0.84977	0.5592	M	0.78456	2.415	0.44871	D	0.997886	D;D;D;P;D;P	0.54772	0.968;0.968;0.968;0.853;0.968;0.923	P;P;P;P;P;P	0.61800	0.894;0.794;0.894;0.592;0.836;0.836	D	0.83654	0.0157	10	0.35671	T	0.21	-8.4215	11.3707	0.49697	0.9292:0.0:0.0708:0.0	.	172;1167;433;1138;1144;1167	B7Z6P3;B4DZ88;G3V4Y7;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;.;.;KTN1_HUMAN	T	1144;1167;1138;1167;1144;1144;1167;433;128;172	ENSP00000394992:K1144T;ENSP00000378720:K1167T;ENSP00000391964:K1138T;ENSP00000378725:K1167T;ENSP00000378719:K1144T;ENSP00000378722:K1144T;ENSP00000388807:K1167T;ENSP00000452073:K433T;ENSP00000452445:K128T;ENSP00000451698:K172T	ENSP00000378719:K1144T	K	+	2	0	KTN1	55208317	1.000000	0.71417	0.882000	0.34594	0.982000	0.71751	5.260000	0.65490	1.044000	0.40200	0.533000	0.62120	AAG		PASS	0.368	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			24	69	24	69	---	---	---	---
KIAA0586	9786	broad.mit.edu	37	14	58915116	58915116	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:58915116C>T	ENST00000556134.1	+	8	1095	c.821C>T	c.(820-822)tCc>tTc	p.S274F	KIAA0586_ENST00000261244.5_Missense_Mutation_p.S289F|KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.S342F|KIAA0586_ENST00000423743.3_Missense_Mutation_p.S245F	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	274					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)		p.S289F(1)|p.S342F(1)		endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTATGCCCTCCTCCAGAGCA	0.338																																						uc001xdv.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(865-867)TCC>TTC		talpid3 protein							95.0	90.0	92.0					14																	58915116		1828	4089	5917	SO:0001583	missense	9786							g.chr14:58915116C>T	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.821C>T	14.37:g.58915116C>T	ENSP00000452351:p.Ser274Phe					KIAA0586_uc010trr.1_Missense_Mutation_p.S330F|KIAA0586_uc001xdt.3_Missense_Mutation_p.S245F|KIAA0586_uc001xdu.3_Missense_Mutation_p.S274F|KIAA0586_uc010trs.1_Missense_Mutation_p.S204F|KIAA0586_uc010trt.1_Missense_Mutation_p.S149F|KIAA0586_uc010tru.1_Missense_Mutation_p.S149F	p.S289F	NM_014749	NP_055564	E9PGW8	E9PGW8_HUMAN			7	1139	+			289					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.866C>T	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612977	0.46631	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000555833;ENST00000261244;ENST00000546216	T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8	5.41	2.45	0.29901	.	1.277870	0.04930	N	0.456624	T	0.48370	0.1496	L	0.38175	1.15	0.09310	N	1	P;P;D;P;P;P	0.53151	0.681;0.681;0.958;0.846;0.681;0.799	B;B;P;B;B;B	0.51135	0.281;0.221;0.66;0.367;0.221;0.221	T	0.30268	-0.9984	10	0.72032	D	0.01	.	5.5745	0.17215	0.1452:0.6386:0.14:0.0761	.	149;149;342;289;274;245	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	F	342;274;245;204;289;149	ENSP00000346359:S342F;ENSP00000452351:S274F;ENSP00000399427:S245F;ENSP00000450855:S204F;ENSP00000261244:S289F	ENSP00000261244:S289F	S	+	2	0	KIAA0586	57984869	0.022000	0.18835	0.000000	0.03702	0.012000	0.07955	2.106000	0.41835	0.287000	0.22375	0.585000	0.79938	TCC		PASS	0.338	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		43	101	43	101	---	---	---	---
PPM1A	5494	broad.mit.edu	37	14	60749451	60749451	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:60749451G>A	ENST00000395076.4	+	2	460	c.30G>A	c.(28-30)atG>atA	p.M10I	PPM1A_ENST00000325658.3_Missense_Mutation_p.M10I|PPM1A_ENST00000529574.1_Missense_Mutation_p.M10I|PPM1A_ENST00000325642.3_Missense_Mutation_p.M83I	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	10					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)	p.M10I(1)|p.M83I(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		AGCCAAAGATGGAAAAGCATA	0.443																																						uc010apn.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(28-30)ATG>ATA		protein phosphatase 1A isoform 1							183.0	181.0	182.0					14																	60749451		2203	4300	6503	SO:0001583	missense	5494				cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	g.chr14:60749451G>A	S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.30G>A	14.37:g.60749451G>A	ENSP00000378514:p.Met10Ile					PPM1A_uc001xew.3_Missense_Mutation_p.M83I|PPM1A_uc001xex.3_Missense_Mutation_p.M10I|PPM1A_uc001xey.3_Missense_Mutation_p.M10I	p.M10I	NM_021003	NP_066283	P35813	PPM1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.046)	3	432	+			10					B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	c.30G>A	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326570	0.60743	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076;ENST00000325658;ENST00000528241;ENST00000525399;ENST00000531937	T;T;T;T;T;T;T	0.08634	3.07;3.07;3.07;3.07;3.07;3.07;3.07	5.75	5.75	0.90469	Protein phosphatase 2C-like (2);	0.000000	0.85682	D	0.000000	T	0.06962	0.0177	N	0.10972	0.075	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.001;0.0	T	0.40813	-0.9543	10	0.46703	T	0.11	-4.3181	19.9233	0.97095	0.0:0.0:1.0:0.0	.	10;10;10	P35813;P35813-2;B2R8E4	PPM1A_HUMAN;.;.	I	83;10;10;10;10;10;10	ENSP00000327255:M83I;ENSP00000432966:M10I;ENSP00000378514:M10I;ENSP00000314850:M10I;ENSP00000431453:M10I;ENSP00000435398:M10I;ENSP00000435575:M10I	ENSP00000327255:M83I	M	+	3	0	PPM1A	59819204	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.704000	0.92352	0.591000	0.81541	ATG		PASS	0.443	PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003		76	171	76	171	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64444689	64444689	+	Missense_Mutation	SNP	C	C	T	rs555792940		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:64444689C>T	ENST00000344113.4	+	13	1572	c.1360C>T	c.(1360-1362)Cac>Tac	p.H454Y	SYNE2_ENST00000358025.3_Missense_Mutation_p.H454Y|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.H454Y	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	454					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.H454Y(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGATGAAAATCACTTGCCATT	0.378													C|||	1	0.000199681	0.0	0.0	5008	,	,		19860	0.001		0.0	False		,,,				2504	0.0					uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(1360-1362)CAC>TAC		spectrin repeat containing, nuclear envelope 2							122.0	108.0	113.0					14																	64444689		1893	4121	6014	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64444689C>T	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.1360C>T	14.37:g.64444689C>T	ENSP00000341781:p.His454Tyr					SYNE2_uc001xgl.2_Missense_Mutation_p.H454Y	p.H454Y	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	13	1590	+			454			Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.1360C>T	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	C	7.409	0.634406	0.14322	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	T;T;T	0.57107	0.79;0.79;0.42	6.07	2.02	0.26589	.	0.506915	0.17900	N	0.158208	T	0.42944	0.1225	L	0.59436	1.845	0.19775	N	0.999959	B;B	0.17667	0.013;0.023	B;B	0.14023	0.005;0.01	T	0.38714	-0.9648	10	0.49607	T	0.09	.	3.9587	0.09401	0.2734:0.4019:0.2513:0.0734	.	454;454	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	Y	454	ENSP00000350719:H454Y;ENSP00000341781:H454Y;ENSP00000452570:H454Y	ENSP00000261678:H454Y	H	+	1	0	SYNE2	63514442	0.000000	0.05858	0.001000	0.08648	0.118000	0.20060	-0.669000	0.05262	0.092000	0.17331	0.655000	0.94253	CAC		PASS	0.378	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		18	46	18	46	---	---	---	---
SYNE2	23224	broad.mit.edu	37	14	64676674	64676674	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:64676674G>C	ENST00000344113.4	+	103	18767	c.18555G>C	c.(18553-18555)caG>caC	p.Q6185H	SYNE2_ENST00000358025.3_Missense_Mutation_p.Q6185H|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_5'UTR|SYNE2_ENST00000555022.1_Missense_Mutation_p.Q63H|SYNE2_ENST00000555002.1_Missense_Mutation_p.Q2819H|SYNE2_ENST00000357395.3_Missense_Mutation_p.Q2570H|SYNE2_ENST00000394768.2_Missense_Mutation_p.Q2570H|SYNE2_ENST00000554584.1_Missense_Mutation_p.Q6144H	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6185					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.Q6185H(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTCAGCGGCAGATTCATGAGC	0.617																																						uc001xgm.2																			1	Substitution - Missense(1)		lung(1)	ovary(8)|breast(4)|central_nervous_system(1)|pancreas(1)	14						c.(18553-18555)CAG>CAC		spectrin repeat containing, nuclear envelope 2							46.0	47.0	47.0					14																	64676674		2203	4300	6503	SO:0001583	missense	23224				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	g.chr14:64676674G>C	AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18555G>C	14.37:g.64676674G>C	ENSP00000341781:p.Gln6185His					SYNE2_uc001xgl.2_Missense_Mutation_p.Q6185H|SYNE2_uc010apy.2_Missense_Mutation_p.Q2570H|SYNE2_uc001xgn.2_Missense_Mutation_p.Q1147H|SYNE2_uc001xgo.2_RNA|SYNE2_uc010aqa.2_Missense_Mutation_p.Q155H|SYNE2_uc001xgq.2_Missense_Mutation_p.Q550H|SYNE2_uc001xgr.2_5'UTR	p.Q6185H	NM_015180	NP_055995	Q8WXH0	SYNE2_HUMAN		all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)	103	18785	+			6185			Spectrin 7.|Cytoplasmic (Potential).		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	ENST00000344113.4	37	c.18555G>C	CCDS41963.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342849	0.41498	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000556906;ENST00000555022	T;T;T;T;T;T;T;T	0.60040	1.33;1.33;1.33;0.22;1.33;1.33;0.7;1.33	5.63	4.73	0.59995	.	0.000000	0.45606	D	0.000355	T	0.66458	0.2791	L	0.46614	1.455	0.80722	D	1	B;B;D;B;D	0.89917	0.238;0.124;1.0;0.07;0.972	B;B;D;B;P	0.91635	0.277;0.279;0.999;0.297;0.86	T	0.67856	-0.5562	10	0.87932	D	0	.	8.5903	0.33684	0.2167:0.0:0.7833:0.0	.	2570;573;6144;6185;6185	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	H	6185;2570;6185;6144;6150;2819;2570;155;63	ENSP00000350719:Q6185H;ENSP00000349969:Q2570H;ENSP00000341781:Q6185H;ENSP00000452570:Q6144H;ENSP00000450831:Q2819H;ENSP00000378249:Q2570H;ENSP00000452298:Q155H;ENSP00000451009:Q63H	ENSP00000261678:Q6150H	Q	+	3	2	SYNE2	63746427	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	2.850000	0.48294	2.632000	0.89209	0.609000	0.83330	CAG		PASS	0.617	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914		29	60	29	60	---	---	---	---
PCNX	22990	broad.mit.edu	37	14	71413810	71413810	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:71413810C>A	ENST00000304743.2	+	2	778	c.332C>A	c.(331-333)tCa>tAa	p.S111*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.S111*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.S111*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	111						integral component of membrane (GO:0016021)		p.S111*(1)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCAACTGTTCAACCAGGAGA	0.403																																						uc001xmo.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(331-333)TCA>TAA		pecanex-like 1							111.0	97.0	102.0					14																	71413810		2203	4300	6503	SO:0001587	stop_gained	22990					integral to membrane		g.chr14:71413810C>A	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.332C>A	14.37:g.71413810C>A	ENSP00000304192:p.Ser111*					PCNX_uc001xmn.3_Nonsense_Mutation_p.S111*|PCNX_uc010are.1_Nonsense_Mutation_p.S111*	p.S111*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	2	778	+			111					B2RTR6|O94897|Q96AI7|Q9Y2J9	Nonsense_Mutation	SNP	ENST00000304743.2	37	c.332C>A	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	41	9.116025	0.99071	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	.	.	.	5.87	4.98	0.66077	.	0.456369	0.21631	N	0.071483	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4199	0.67175	0.0:0.9299:0.0:0.0701	.	.	.	.	X	111	.	ENSP00000238570:S111X	S	+	2	0	PCNX	70483563	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	2.584000	0.46102	2.779000	0.95612	0.655000	0.94253	TCA		PASS	0.403	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		12	22	12	22	---	---	---	---
JDP2	122953	broad.mit.edu	37	14	75936092	75936092	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:75936092C>T	ENST00000435893.2	+	4	679	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	JDP2_ENST00000419727.2_Missense_Mutation_p.R136C|JDP2_ENST00000267569.5_Missense_Mutation_p.R147C|JDP2_ENST00000437176.1_Missense_Mutation_p.R136C	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	136					negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone deacetylation (GO:0031065)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R136C(1)		lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)	Pseudoephedrine(DB00852)	GAACCGACACCGCCCCACCTG	0.607																																						uc010asj.2																			1	Substitution - Missense(1)		lung(1)		0						c.(406-408)CGC>TGC		Jun dimerization protein 2 isoform a							70.0	61.0	64.0					14																	75936092		2203	4300	6503	SO:0001583	missense	122953					nucleus	sequence-specific DNA binding	g.chr14:75936092C>T	AF111167	CCDS9842.1, CCDS45139.1	14q24.2	2013-01-10		2008-04-10				"""basic leucine zipper proteins"""	17546	protein-coding gene	gene with protein product	"""progesterone receptor co-activator"""	608657				12052888, 9154808, 17545590	Standard	NM_130469		Approved	JUNDM2	uc001xrq.3	Q8WYK2		ENST00000435893.2:c.406C>T	14.37:g.75936092C>T	ENSP00000399587:p.Arg136Cys					JDP2_uc010tvb.1_Missense_Mutation_p.R136C|JDP2_uc010tvc.1_Missense_Mutation_p.R136C|JDP2_uc001xrq.2_Missense_Mutation_p.R147C	p.R136C	NM_001135047	NP_001128519	Q8WYK2	JDP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0296)	4	473	+			136					J3KN58|O95430|Q9UIE4	Missense_Mutation	SNP	ENST00000435893.2	37	c.406C>T	CCDS9842.1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.542366	0.65198	.	.	ENSG00000140044	ENST00000419727;ENST00000437176;ENST00000435893;ENST00000267569	T;T;T;T	0.59224	0.32;0.32;0.32;0.28	4.58	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.46658	0.1404	L	0.32530	0.975	0.80722	D	1	B	0.13145	0.007	B	0.06405	0.002	T	0.47058	-0.9146	10	0.87932	D	0	-9.7896	12.8835	0.58030	0.0:0.9206:0.0:0.0794	.	136	Q8WYK2	JDP2_HUMAN	C	136;136;136;147	ENSP00000415558:R136C;ENSP00000409787:R136C;ENSP00000399587:R136C;ENSP00000267569:R147C	ENSP00000267569:R147C	R	+	1	0	JDP2	75005845	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.498000	0.81546	1.151000	0.42436	0.467000	0.42956	CGC		PASS	0.607	JDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415505.1	NM_130469		15	52	15	52	---	---	---	---
DYNC1H1	1778	broad.mit.edu	37	14	102478379	102478379	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:102478379C>T	ENST00000360184.4	+	33	6950	c.6786C>T	c.(6784-6786)gaC>gaT	p.D2262D		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2262	AAA 2. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)	p.D2262D(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCAGCAAAGACCACCTCTACG	0.547																																						uc001yks.2																			1	Substitution - coding silent(1)		lung(1)	ovary(7)|central_nervous_system(2)|pancreas(1)	10						c.(6784-6786)GAC>GAT		cytoplasmic dynein 1 heavy chain 1							146.0	117.0	127.0					14																	102478379		2203	4300	6503	SO:0001819	synonymous_variant	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102478379C>T	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.6786C>T	14.37:g.102478379C>T							p.D2262D	NM_001376	NP_001367	Q14204	DYHC1_HUMAN			33	6950	+			2262			AAA 2 (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	ENST00000360184.4	37	c.6786C>T	CCDS9966.1																																																																																				PASS	0.547	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		14	61	14	61	---	---	---	---
PPP1R13B	23368	broad.mit.edu	37	14	104208264	104208264	+	Nonsense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:104208264G>C	ENST00000202556.9	-	11	1967	c.1685C>G	c.(1684-1686)tCa>tGa	p.S562*	PPP1R13B_ENST00000423488.2_5'UTR|PPP1R13B_ENST00000555391.1_5'UTR	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	562	Pro-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S562*(1)		endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				CTGTGGCCTTGACCCTTTATC	0.552																																						uc001yof.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)	1						c.(1684-1686)TCA>TGA		apoptosis-stimulating protein of p53, 1							141.0	149.0	146.0					14																	104208264		1978	4157	6135	SO:0001587	stop_gained	23368				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding	g.chr14:104208264G>C	AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.1685C>G	14.37:g.104208264G>C	ENSP00000202556:p.Ser562*					PPP1R13B_uc010awv.1_RNA|PPP1R13B_uc001yog.1_Nonsense_Mutation_p.S429*	p.S562*	NM_015316	NP_056131	Q96KQ4	ASPP1_HUMAN			11	1968	-		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)	562			Pro-rich.		B2RMX5|O94870	Nonsense_Mutation	SNP	ENST00000202556.9	37	c.1685C>G	CCDS41997.1	.	.	.	.	.	.	.	.	.	.	G	40	8.381184	0.98786	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	20.2405	0.98372	0.0:0.0:1.0:0.0	.	.	.	.	X	562;429	.	ENSP00000202556:S562X	S	-	2	0	PPP1R13B	103278017	1.000000	0.71417	0.817000	0.32601	0.865000	0.49528	9.230000	0.95299	2.797000	0.96272	0.561000	0.74099	TCA		PASS	0.552	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414591.1	NM_015316		54	97	54	97	---	---	---	---
IGHV5-51	28388	broad.mit.edu	37	14	107035121	107035121	+	RNA	SNP	G	G	C	rs541852575		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr14:107035121G>C	ENST00000390626.2	-	0	100									immunoglobulin heavy variable 5-51																		ACTGACCTTGGAGAACAGCCA	0.582													g|||	1	0.000199681	0.0008	0.0	5008	,	,		15233	0.0		0.0	False		,,,				2504	0.0					uc010tyt.1																			0					0								Parts of antibodies, mostly variable regions.							30.0	34.0	32.0					14																	107035121		1981	4167	6148			8755							g.chr14:107035121G>C	M99686		14q32.33	2012-02-08			ENSG00000211966	ENSG00000211966		"""Immunoglobulins / IGH locus"""	5659	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151960		14.37:g.107035121G>C						uc001ysz.2_Silent_p.L14L								153		-									RNA	SNP	ENST00000390626.2	37	c.7193C>G																																																																																					PASS	0.582	IGHV5-51-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324606.1	NG_001019		4	31	4	31	---	---	---	---
MKRN3	7681	broad.mit.edu	37	15	23811409	23811409	+	Silent	SNP	C	C	A	rs372340447		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:23811409C>A	ENST00000314520.3	+	1	956	c.480C>A	c.(478-480)ccC>ccA	p.P160P	RP11-73C9.1_ENST00000563044.1_RNA|MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	160					protein ubiquitination (GO:0016567)	ribonucleoprotein complex (GO:0030529)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P160P(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CGGAAGCCCCCCCGGCTGCAT	0.647																																						uc001ywh.3																			1	Substitution - coding silent(1)		lung(1)	lung(6)|large_intestine(2)|ovary(2)	10						c.(478-480)CCC>CCA		makorin ring finger protein 3							25.0	27.0	27.0					15																	23811409		2201	4298	6499	SO:0001819	synonymous_variant	7681					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	g.chr15:23811409C>A	U19107	CCDS10013.1	15q11-q13	2013-01-09	2008-08-13		ENSG00000179455	ENSG00000179455		"""RING-type (C3HC4) zinc fingers"""	7114	protein-coding gene	gene with protein product	"""zinc finger protein 127"""	603856		ZNF127, D15S9		10196367	Standard	NM_005664		Approved	RNF63, ZFP127, MGC88288	uc001ywh.4	Q13064	OTTHUMG00000129160	ENST00000314520.3:c.480C>A	15.37:g.23811409C>A						MKRN3_uc001ywi.2_Intron|MKRN3_uc010ayi.1_Silent_p.P160P	p.P160P	NM_005664	NP_005655	Q13064	MKRN3_HUMAN		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)	1	956	+		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)	160						Silent	SNP	ENST00000314520.3	37	c.480C>A	CCDS10013.1																																																																																				PASS	0.647	MKRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251225.1	NM_005664		16	32	16	32	---	---	---	---
GABRB3	2562	broad.mit.edu	37	15	26825604	26825604	+	Splice_Site	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:26825604C>T	ENST00000311550.5	-	6	656		c.e6-1		GABRB3_ENST00000541819.2_Splice_Site|GABRB3_ENST00000299267.4_Splice_Site|GABRB3_ENST00000400188.3_Splice_Site|GABRB3_ENST00000545868.1_Splice_Site	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3						cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)	p.?(3)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTGTAGCCATCTGCCAAGAGA	0.493																																						uc001zaz.2																			3	Unknown(3)		lung(3)	upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.e6-1		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						101.0	85.0	90.0					15																	26825604		2203	4300	6503	SO:0001630	splice_region_variant	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26825604C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.545-1G>A	15.37:g.26825604C>T						GABRB3_uc010uae.1_Splice_Site_p.Y97_splice|GABRB3_uc001zba.2_Splice_Site_p.Y182_splice|GABRB3_uc001zbb.2_Splice_Site_p.Y238_splice	p.Y182_splice	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	6	687	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)						B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Splice_Site	SNP	ENST00000311550.5	37	c.545_splice	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082193	0.76528	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.8936	0.88879	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GABRB3	24376697	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.665000	0.83852	2.541000	0.85698	0.561000	0.74099	.		PASS	0.493	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2		Intron	32	44	32	44	---	---	---	---
GABRG3	2567	broad.mit.edu	37	15	27772743	27772743	+	Nonsense_Mutation	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:27772743A>T	ENST00000333743.6	+	8	1284	c.1030A>T	c.(1030-1032)Aga>Tga	p.R344*	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	344					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.R344*(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TTCCAGCTGTAGAAAACCAAC	0.517																																					NSCLC(114;800 1656 7410 37729 45293)	uc001zbg.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1030-1032)AGA>TGA		gamma-aminobutyric acid (GABA) A receptor, gamma							71.0	64.0	66.0					15																	27772743		2075	4210	6285	SO:0001587	stop_gained	2567				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27772743A>T		CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.1030A>T	15.37:g.27772743A>T	ENSP00000331912:p.Arg344*						p.R344*	NM_033223	NP_150092	Q99928	GBRG3_HUMAN		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	8	1196	+		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)	344			Cytoplasmic (Probable).		G3V594|Q9HD46|Q9NYT2	Nonsense_Mutation	SNP	ENST00000333743.6	37	c.1030A>T	CCDS45195.1	.	.	.	.	.	.	.	.	.	.	A	36	5.621281	0.96660	.	.	ENSG00000182256	ENST00000333743	.	.	.	5.61	4.47	0.54385	.	0.333305	0.35903	N	0.002916	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8516	0.52415	0.8481:0.1519:0.0:0.0	.	.	.	.	X	344	.	ENSP00000331912:R344X	R	+	1	2	GABRG3	25446338	0.942000	0.31987	0.142000	0.22268	0.288000	0.27193	2.321000	0.43805	0.932000	0.37266	0.533000	0.62120	AGA		PASS	0.517	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000103584.2			9	15	9	15	---	---	---	---
CAPN3	825	broad.mit.edu	37	15	42681211	42681211	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:42681211G>A	ENST00000397163.3	+	5	937	c.718G>A	c.(718-720)Gag>Aag	p.E240K	CAPN3_ENST00000349748.3_Missense_Mutation_p.E240K|CAPN3_ENST00000318023.7_Missense_Mutation_p.E240K|CAPN3_ENST00000357568.3_Missense_Mutation_p.E240K|CAPN3_ENST00000356316.3_Missense_Mutation_p.E153K|RP11-164J13.1_ENST00000495723.1_RNA	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	240	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.E153K(1)|p.E240K(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		AGAGTTTTTTGAGATCAGGGA	0.522																																						uc001zpn.1																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(718-720)GAG>AAG		calpain 3 isoform a							119.0	114.0	116.0					15																	42681211		2203	4299	6502	SO:0001583	missense	825				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity	g.chr15:42681211G>A	X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.718G>A	15.37:g.42681211G>A	ENSP00000380349:p.Glu240Lys					CAPN3_uc001zpk.1_Missense_Mutation_p.E13K|CAPN3_uc001zpl.1_Missense_Mutation_p.E153K|CAPN3_uc010udf.1_Missense_Mutation_p.E153K|CAPN3_uc010udg.1_Missense_Mutation_p.E153K|CAPN3_uc001zpo.1_Missense_Mutation_p.E240K|CAPN3_uc001zpp.1_Missense_Mutation_p.E240K	p.E240K	NM_000070	NP_000061	P20807	CAN3_HUMAN		GBM - Glioblastoma multiforme(94;7.36e-07)	5	1024	+		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)	240			Calpain catalytic.		A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	Missense_Mutation	SNP	ENST00000397163.3	37	c.718G>A	CCDS45245.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079956	0.76528	.	.	ENSG00000092529	ENST00000356316;ENST00000397163;ENST00000357568;ENST00000349748;ENST00000318023	D;D;D;D;D	0.89270	-2.49;-2.49;-2.49;-2.49;-2.49	5.41	5.41	0.78517	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	U	0.000000	D	0.89469	0.6724	M	0.67700	2.07	0.80722	D	1	B;B;B;B;B;B	0.20671	0.045;0.047;0.025;0.021;0.045;0.011	B;B;B;B;B;B	0.26969	0.075;0.041;0.038;0.03;0.051;0.029	D	0.86411	0.1748	10	0.87932	D	0	.	19.398	0.94614	0.0:0.0:1.0:0.0	.	153;153;240;240;240;153	C6EVS4;C6EVS3;P20807-2;P20807-3;P20807;Q762C8	.;.;.;.;CAN3_HUMAN;.	K	153;240;240;240;240	ENSP00000348667:E153K;ENSP00000380349:E240K;ENSP00000350181:E240K;ENSP00000183936:E240K;ENSP00000326281:E240K	ENSP00000326281:E240K	E	+	1	0	CAPN3	40468503	1.000000	0.71417	1.000000	0.80357	0.671000	0.39405	9.528000	0.98046	2.826000	0.97356	0.561000	0.74099	GAG		PASS	0.522	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			61	69	61	69	---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43262764	43262764	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:43262764G>A	ENST00000290650.4	-	40	4489	c.4411C>T	c.(4411-4413)Cat>Tat	p.H1471Y	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1471					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.H1471Y(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GATGCGGAATGAGCCTCTTCA	0.358																																						uc001zqq.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(4411-4413)CAT>TAT		ubiquitin protein ligase E3 component n-recognin							125.0	129.0	127.0					15																	43262764		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43262764G>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4411C>T	15.37:g.43262764G>A	ENSP00000290650:p.His1471Tyr						p.H1471Y	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	40	4477	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1471					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.4411C>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.226005	0.39300	.	.	ENSG00000159459	ENST00000290650	T	0.49139	0.79	5.72	5.72	0.89469	.	0.801903	0.11758	N	0.532365	T	0.38161	0.1030	N	0.22421	0.69	0.80722	D	1	B	0.12630	0.006	B	0.16722	0.016	T	0.09292	-1.0681	10	0.42905	T	0.14	-23.3824	14.0945	0.65010	0.0738:0.0:0.9262:0.0	.	1471	Q8IWV7	UBR1_HUMAN	Y	1471	ENSP00000290650:H1471Y	ENSP00000290650:H1471Y	H	-	1	0	UBR1	41050056	0.998000	0.40836	0.985000	0.45067	0.471000	0.32888	3.543000	0.53633	2.711000	0.92665	0.655000	0.94253	CAT		PASS	0.358	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		33	123	33	123	---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43262791	43262791	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:43262791G>C	ENST00000290650.4	-	40	4462	c.4384C>G	c.(4384-4386)Cag>Gag	p.Q1462E	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1462					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q1462E(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TCTTGAACCTGAGCAAGGGGT	0.353																																						uc001zqq.2																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(4384-4386)CAG>GAG		ubiquitin protein ligase E3 component n-recognin							105.0	108.0	107.0					15																	43262791		2203	4299	6502	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43262791G>C		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4384C>G	15.37:g.43262791G>C	ENSP00000290650:p.Gln1462Glu						p.Q1462E	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	40	4450	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	1462					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.4384C>G	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.958969	0.34565	.	.	ENSG00000159459	ENST00000290650	T	0.56611	0.45	5.72	3.74	0.42951	.	0.558740	0.19387	N	0.115503	T	0.29321	0.0730	N	0.14661	0.345	0.18873	N	0.999982	B	0.02656	0.0	B	0.01281	0.0	T	0.16158	-1.0412	10	0.02654	T	1	-38.5074	10.8733	0.46896	0.0:0.2733:0.5932:0.1336	.	1462	Q8IWV7	UBR1_HUMAN	E	1462	ENSP00000290650:Q1462E	ENSP00000290650:Q1462E	Q	-	1	0	UBR1	41050083	1.000000	0.71417	0.637000	0.29366	0.997000	0.91878	3.214000	0.51161	1.388000	0.46506	0.655000	0.94253	CAG		PASS	0.353	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		28	101	28	101	---	---	---	---
UBR1	197131	broad.mit.edu	37	15	43313514	43313514	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:43313514G>A	ENST00000290650.4	-	27	2977	c.2899C>T	c.(2899-2901)Cag>Tag	p.Q967*	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	967					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.Q967*(1)		NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CCTTCTAACTGGGGAATTCCT	0.318																																						uc001zqq.2																			1	Substitution - Nonsense(1)		lung(1)	lung(1)	1						c.(2899-2901)CAG>TAG		ubiquitin protein ligase E3 component n-recognin							143.0	143.0	143.0					15																	43313514		2203	4299	6502	SO:0001587	stop_gained	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43313514G>A		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.2899C>T	15.37:g.43313514G>A	ENSP00000290650:p.Gln967*					UBR1_uc010udk.1_Nonsense_Mutation_p.Q967*	p.Q967*	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	27	2965	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	967					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Nonsense_Mutation	SNP	ENST00000290650.4	37	c.2899C>T	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	G	39	7.317960	0.98207	.	.	ENSG00000159459	ENST00000290650;ENST00000546274	.	.	.	4.83	4.83	0.62350	.	0.200732	0.45606	D	0.000353	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-39.2527	18.471	0.90774	0.0:0.0:1.0:0.0	.	.	.	.	X	967	.	ENSP00000290650:Q967X	Q	-	1	0	UBR1	41100806	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.467000	0.60155	2.678000	0.91216	0.655000	0.94253	CAG		PASS	0.318	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		70	70	70	70	---	---	---	---
FAM214A	56204	broad.mit.edu	37	15	52901085	52901085	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:52901085C>G	ENST00000261844.7	-	6	2178	c.2026G>C	c.(2026-2028)Gat>Cat	p.D676H	FAM214A_ENST00000546305.2_Missense_Mutation_p.D683H	NM_019600.2	NP_062546.2	Q32MH5	F214A_HUMAN	family with sequence similarity 214, member A	676								p.D676H(1)									TTGGAATCATCAGACTGAAGA	0.274																																						uc002acg.3																			1	Substitution - Missense(1)		lung(1)		0						c.(2026-2028)GAT>CAT		hypothetical protein LOC56204							57.0	53.0	55.0					15																	52901085		1785	4049	5834	SO:0001583	missense	56204							g.chr15:52901085C>G	AB037791	CCDS45263.1, CCDS66773.1	15q21.2-q21.3	2011-12-01	2011-12-01	2011-12-01	ENSG00000047346	ENSG00000047346			25609	protein-coding gene	gene with protein product			"""KIAA1370"""	KIAA1370		10718198	Standard	XM_005254547		Approved	FLJ10980	uc002acg.4	Q32MH5		ENST00000261844.7:c.2026G>C	15.37:g.52901085C>G	ENSP00000261844:p.Asp676His					KIAA1370_uc002ach.3_RNA|KIAA1370_uc010bfg.1_Missense_Mutation_p.D588H|KIAA1370_uc010ugf.1_Missense_Mutation_p.D683H	p.D676H	NM_019600	NP_062546	Q32MH5	K1370_HUMAN		all cancers(107;0.0803)	6	2179	-			676					A8KA52|B4DEP5|B4DF40|F5H8G0|Q32MH6|Q4G0R7|Q5XJ16|Q6PDA3|Q9NV24|Q9P2H7	Missense_Mutation	SNP	ENST00000261844.7	37	c.2026G>C	CCDS45263.1	.	.	.	.	.	.	.	.	.	.	C	1.469	-0.560284	0.03939	.	.	ENSG00000047346	ENST00000261844;ENST00000399202;ENST00000534964;ENST00000546305	T;T	0.35048	1.33;1.33	5.61	4.69	0.59074	.	0.344559	0.30210	N	0.010153	T	0.33000	0.0848	L	0.50333	1.59	0.39073	D	0.960759	B;B	0.20164	0.042;0.025	B;B	0.23716	0.048;0.013	T	0.15206	-1.0445	10	0.34782	T	0.22	.	10.9734	0.47452	0.0:0.8005:0.1295:0.0701	.	683;676	F5H8G0;Q32MH5	.;K1370_HUMAN	H	676;676;675;683	ENSP00000261844:D676H;ENSP00000443598:D683H	ENSP00000261844:D676H	D	-	1	0	KIAA1370	50688377	0.943000	0.32029	0.199000	0.23439	0.026000	0.11368	2.045000	0.41250	1.393000	0.46605	0.650000	0.86243	GAT		PASS	0.274	FAM214A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419914.1	NM_019600		10	50	10	50	---	---	---	---
MNS1	55329	broad.mit.edu	37	15	56748594	56748594	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:56748594G>T	ENST00000260453.3	-	3	515	c.351C>A	c.(349-351)aaC>aaA	p.N117K		NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	117	Glu-rich.				cilium organization (GO:0044782)|left/right axis specification (GO:0070986)|meiotic nuclear division (GO:0007126)	axoneme (GO:0005930)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)|sperm flagellum (GO:0036126)	identical protein binding (GO:0042802)	p.N117K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		CAAGATACCTGTTTTCTCTTA	0.323																																						uc002adr.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(349-351)AAC>AAA		meiosis-specific nuclear structural 1							173.0	157.0	162.0					15																	56748594		2191	4292	6483	SO:0001583	missense	55329				meiosis			g.chr15:56748594G>T	AK002084	CCDS10158.1	15q21.3	2013-01-16			ENSG00000138587	ENSG00000138587			29636	protein-coding gene	gene with protein product	"""spermatogenesis associated 40"""	610766				7625268, 8032679	Standard	NM_018365		Approved	FLJ11222, SPATA40	uc002adr.2	Q8NEH6	OTTHUMG00000132034	ENST00000260453.3:c.351C>A	15.37:g.56748594G>T	ENSP00000260453:p.Asn117Lys					MNS1_uc010bfo.2_Intron	p.N117K	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN		all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)	3	516	-			117			Potential.|Glu-rich.		Q8IYT6|Q9NUP4	Missense_Mutation	SNP	ENST00000260453.3	37	c.351C>A	CCDS10158.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208640	0.79240	.	.	ENSG00000138587	ENST00000260453	T	0.10573	2.86	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	M	0.78637	2.42	0.58432	D	0.999995	D	0.89917	1.0	D	0.78314	0.991	T	0.01283	-1.1396	10	0.44086	T	0.13	-12.8107	17.491	0.87703	0.0:0.0:1.0:0.0	.	117	Q8NEH6	MNS1_HUMAN	K	117	ENSP00000260453:N117K	ENSP00000260453:N117K	N	-	3	2	MNS1	54535886	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	7.408000	0.80041	2.793000	0.96121	0.655000	0.94253	AAC		PASS	0.323	MNS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255047.2	NM_018365		11	44	11	44	---	---	---	---
HERC1	8925	broad.mit.edu	37	15	64010802	64010802	+	Nonsense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:64010802G>A	ENST00000443617.2	-	21	4036	c.3949C>T	c.(3949-3951)Caa>Taa	p.Q1317*		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	1317					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.Q1317*(2)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GACCTTGTTTGAATAAGTTCA	0.358																																						uc002amp.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(6)|breast(6)|lung(5)|central_nervous_system(2)	19						c.(3949-3951)CAA>TAA		hect domain and RCC1-like domain 1							82.0	71.0	75.0					15																	64010802		1844	4099	5943	SO:0001587	stop_gained	8925				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	g.chr15:64010802G>A	U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.3949C>T	15.37:g.64010802G>A	ENSP00000390158:p.Gln1317*					HERC1_uc010uil.1_Intron	p.Q1317*	NM_003922	NP_003913	Q15751	HERC1_HUMAN			21	4097	-			1317					Q8IW65	Nonsense_Mutation	SNP	ENST00000443617.2	37	c.3949C>T	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	G	42	9.543390	0.99201	.	.	ENSG00000103657	ENST00000443617	.	.	.	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.4004	0.94627	0.0:0.0:1.0:0.0	.	.	.	.	X	1317	.	ENSP00000390158:Q1317X	Q	-	1	0	HERC1	61797855	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.305000	0.72805	2.577000	0.86979	0.655000	0.94253	CAA		PASS	0.358	HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922		5	12	5	12	---	---	---	---
SPG21	51324	broad.mit.edu	37	15	65273231	65273231	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:65273231G>C	ENST00000204566.2	-	3	491	c.196C>G	c.(196-198)Ctg>Gtg	p.L66V	SPG21_ENST00000433215.2_Missense_Mutation_p.L66V|SPG21_ENST00000416889.2_Missense_Mutation_p.L66V|SPG21_ENST00000559199.1_5'UTR|SPG21_ENST00000560564.1_5'UTR	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	66					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)	p.L66V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						CATCCAGTCAGAGCCAAAATC	0.463																																						uc002aod.2																			1	Substitution - Missense(1)		lung(1)		0						c.(196-198)CTG>GTG		spastic paraplegia 21 isoform a							69.0	65.0	66.0					15																	65273231		2202	4299	6501	SO:0001583	missense	51324				cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding	g.chr15:65273231G>C	AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.196C>G	15.37:g.65273231G>C	ENSP00000204566:p.Leu66Val					SPG21_uc002aoe.2_Missense_Mutation_p.L66V|SPG21_uc010bhb.2_Missense_Mutation_p.L66V|SPG21_uc010bhc.2_5'UTR	p.L66V	NM_001127889	NP_001121361	Q9NZD8	SPG21_HUMAN			3	289	-			66					B4DW44|Q6ZMB6	Missense_Mutation	SNP	ENST00000204566.2	37	c.196C>G	CCDS10198.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.629286	0.67015	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	D;D	0.82344	-1.6;-1.6	5.69	-0.535	0.11879	.	0.000000	0.85682	D	0.000000	D	0.91526	0.7324	M	0.93328	3.405	0.53688	D	0.999974	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.942	D	0.90198	0.4255	10	0.51188	T	0.08	-8.8694	11.2423	0.48977	0.3675:0.0:0.6325:0.0	.	66;66	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	V	66	ENSP00000204566:L66V;ENSP00000404111:L66V	ENSP00000204566:L66V	L	-	1	2	SPG21	63060284	0.721000	0.28007	0.966000	0.40874	0.988000	0.76386	0.998000	0.29744	-0.113000	0.11958	-0.312000	0.09012	CTG		PASS	0.463	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256758.3	NM_016630		15	49	15	49	---	---	---	---
ISL2	64843	broad.mit.edu	37	15	76633489	76633489	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:76633489G>A	ENST00000290759.4	+	5	970	c.810G>A	c.(808-810)ctG>ctA	p.L270L	RP11-685G9.2_ENST00000559539.1_RNA|RP11-685G9.4_ENST00000602530.1_lincRNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	270					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.L270L(1)		breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						TTCAGGGACTGACTGGGACGC	0.647																																					GBM(97;953 1391 16164 31496 36951)	uc002bbw.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(808-810)CTG>CTA		ISL LIM homeobox 2							29.0	31.0	30.0					15																	76633489		2196	4294	6490	SO:0001819	synonymous_variant	64843					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:76633489G>A	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.810G>A	15.37:g.76633489G>A							p.L270L	NM_145805	NP_665804	Q96A47	ISL2_HUMAN			5	888	+			270					B3KM37	Silent	SNP	ENST00000290759.4	37	c.810G>A	CCDS10290.1																																																																																				PASS	0.647	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			21	19	21	19	---	---	---	---
IL16	3603	broad.mit.edu	37	15	81585375	81585375	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:81585375C>T	ENST00000302987.4	+	11	1899	c.1899C>T	c.(1897-1899)ggC>ggT	p.G633G	IL16_ENST00000394660.2_Silent_p.G633G			Q14005	IL16_HUMAN	interleukin 16	633					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G633G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCACCTGTGGCCAGGTAAGAG	0.498																																						uc002bgh.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|lung(1)|skin(1)	4						c.(1897-1899)GGC>GGT		interleukin 16 isoform 2							31.0	31.0	31.0					15																	81585375		1883	4110	5993	SO:0001819	synonymous_variant	3603				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	g.chr15:81585375C>T	U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1899C>T	15.37:g.81585375C>T						IL16_uc002bgc.2_RNA|IL16_uc010blq.1_Intron|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.G675G|IL16_uc002bgg.2_Silent_p.G633G|IL16_uc002bgi.1_5'UTR|IL16_uc002bgj.2_Silent_p.G127G|IL16_uc002bgk.2_5'Flank	p.G633G	NM_172217	NP_757366	Q14005	IL16_HUMAN			12	2275	+			633					A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Silent	SNP	ENST00000302987.4	37	c.1899C>T	CCDS42069.1																																																																																				PASS	0.498	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000303952.1	NM_172217		7	46	7	46	---	---	---	---
C15orf40	123207	broad.mit.edu	37	15	83679055	83679055	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:83679055C>T	ENST00000513601.2	-	2	179	c.172G>A	c.(172-174)Gat>Aat	p.D58N	RP11-382A20.7_ENST00000570202.1_RNA|C15orf40_ENST00000565712.1_Intron|C15orf40_ENST00000538348.2_Missense_Mutation_p.D58N|RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000304177.5_Missense_Mutation_p.D31N|C15orf40_ENST00000451195.3_Missense_Mutation_p.D58N			Q8WUR7	CO040_HUMAN	chromosome 15 open reading frame 40	58								p.D31N(1)|p.D58N(1)		large_intestine(3)|lung(2)|skin(1)	6						CCTTTAGGATCAACTGCCACA	0.463																																						uc010uoo.1																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(172-174)GAT>AAT		hypothetical protein LOC123207 isoform d							225.0	198.0	207.0					15																	83679055		2203	4300	6503	SO:0001583	missense	123207							g.chr15:83679055C>T	BC019820	CCDS32312.1, CCDS32312.2, CCDS53968.1, CCDS53969.1	15q25.2	2012-05-30			ENSG00000169609	ENSG00000169609			28443	protein-coding gene	gene with protein product							Standard	NM_144597		Approved	MGC29937	uc010uoo.1	Q8WUR7	OTTHUMG00000160473	ENST00000513601.2:c.172G>A	15.37:g.83679055C>T	ENSP00000424666:p.Asp58Asn					C15orf40_uc010uon.1_Missense_Mutation_p.D58N|C15orf40_uc002bjm.2_Missense_Mutation_p.D58N|C15orf40_uc010uop.1_Missense_Mutation_p.D58N|C15orf40_uc010uoq.1_RNA|C15orf40_uc010uor.1_Missense_Mutation_p.D58N	p.D58N	NM_001160115	NP_001153587	Q8WUR7	CO040_HUMAN			2	206	-			31					A6NIC9|B2R5E7|F5GX92|F8WD31|G5EA00	Missense_Mutation	SNP	ENST00000513601.2	37	c.172G>A	CCDS32312.2	.	.	.	.	.	.	.	.	.	.	C	16.99	3.275097	0.59649	.	.	ENSG00000169609	ENST00000538348;ENST00000451195;ENST00000304177;ENST00000513601	T;T;T;T	0.63913	-0.07;-0.07;-0.07;-0.07	5.65	5.65	0.86999	.	0.052124	0.64402	D	0.000001	T	0.43233	0.1238	N	0.08118	0	0.52501	D	0.999951	B;B;P;P	0.44006	0.069;0.383;0.824;0.681	B;B;B;B	0.37833	0.024;0.155;0.259;0.256	T	0.41787	-0.9489	10	0.25751	T	0.34	-36.6732	18.8669	0.92296	0.0:1.0:0.0:0.0	.	31;58;58;58	Q8WUR7;F8WD31;F5GX92;G5EA00	CO040_HUMAN;.;.;.	N	58;58;31;58	ENSP00000441077:D58N;ENSP00000403987:D58N;ENSP00000307071:D31N;ENSP00000424666:D58N	ENSP00000307071:D31N	D	-	1	0	C15orf40	81470059	0.996000	0.38824	0.219000	0.23793	0.948000	0.59901	3.793000	0.55484	2.824000	0.97209	0.655000	0.94253	GAT		PASS	0.463	C15orf40-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000360737.2	NM_144597		25	148	25	148	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84558983	84558983	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:84558983G>C	ENST00000286744.5	+	11	1419	c.1195G>C	c.(1195-1197)Gat>Cat	p.D399H	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D399H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	399						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D399H(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			ATGCAGCATGGATCCCTGCCC	0.413																																						uc002bjz.3																			1	Substitution - Missense(1)		lung(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(1195-1197)GAT>CAT		ADAMTS-like 3 precursor							163.0	135.0	144.0					15																	84558983		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84558983G>C	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1195G>C	15.37:g.84558983G>C	ENSP00000286744:p.Asp399His					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D399H|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.D399H	p.D399H	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		11	1419	+			399					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.1195G>C	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.433902	0.83776	.	.	ENSG00000156218	ENST00000286744	T	0.60920	0.15	4.83	4.83	0.62350	.	0.108387	0.64402	D	0.000004	T	0.62636	0.2444	N	0.13098	0.295	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.947	T	0.68368	-0.5427	10	0.51188	T	0.08	.	18.304	0.90174	0.0:0.0:1.0:0.0	.	399;399	P82987-2;P82987	.;ATL3_HUMAN	H	399	ENSP00000286744:D399H	ENSP00000286744:D399H	D	+	1	0	ADAMTSL3	82349987	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.224000	0.95209	2.377000	0.81083	0.655000	0.94253	GAT		PASS	0.413	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		15	56	15	56	---	---	---	---
ADAMTSL3	57188	broad.mit.edu	37	15	84611357	84611357	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:84611357G>A	ENST00000286744.5	+	18	2351	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V	ADAMTSL3_ENST00000567476.1_Silent_p.V709V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	709	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V709V(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGTGGCATGTGGGCTCTTGGG	0.547																																						uc002bjz.3																			1	Substitution - coding silent(1)		lung(1)	ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(2125-2127)GTG>GTA		ADAMTS-like 3 precursor							79.0	82.0	81.0					15																	84611357		2203	4300	6503	SO:0001819	synonymous_variant	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84611357G>A	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2127G>A	15.37:g.84611357G>A						ADAMTSL3_uc010bmt.1_Silent_p.V709V|ADAMTSL3_uc010bmu.1_Silent_p.V709V	p.V709V	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		18	2351	+			709			TSP type-1 5.		A1A566|A1A567|Q9ULI7	Silent	SNP	ENST00000286744.5	37	c.2127G>A	CCDS10326.1																																																																																				PASS	0.547	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2	NM_207517		11	87	11	87	---	---	---	---
ANPEP	290	broad.mit.edu	37	15	90334279	90334279	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr15:90334279G>T	ENST00000300060.6	-	19	2887	c.2574C>A	c.(2572-2574)gaC>gaA	p.D858E		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	858	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)	p.D858E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TAGAGGTGGCGTCCTGCTTCC	0.512																																					NSCLC(30;827 977 2459 19669 26125)	uc002bop.3																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(2572-2574)GAC>GAA		membrane alanine aminopeptidase precursor	Ezetimibe(DB00973)						177.0	155.0	162.0					15																	90334279		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90334279G>T	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.2574C>A	15.37:g.90334279G>T	ENSP00000300060:p.Asp858Glu						p.D858E	NM_001150	NP_001141	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		19	2866	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		858			Extracellular.|Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.2574C>A	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099139	0.56183	.	.	ENSG00000166825	ENST00000300060	T	0.06849	3.25	4.88	-6.84	0.01687	.	0.000000	0.85682	D	0.000000	T	0.29158	0.0725	M	0.91090	3.175	0.37923	D	0.931761	D	0.71674	0.998	D	0.71870	0.975	T	0.49744	-0.8907	10	0.51188	T	0.08	.	16.2817	0.82692	0.6675:0.0:0.3325:0.0	.	858	P15144	AMPN_HUMAN	E	858	ENSP00000300060:D858E	ENSP00000300060:D858E	D	-	3	2	ANPEP	88135283	0.000000	0.05858	0.340000	0.25575	0.670000	0.39368	-2.272000	0.01165	-1.879000	0.01126	-1.183000	0.01708	GAC		PASS	0.512	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			22	96	22	96	---	---	---	---
CASKIN1	57524	broad.mit.edu	37	16	2233646	2233646	+	Splice_Site	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr16:2233646C>A	ENST00000343516.6	-	16	1722		c.e16+1		CASKIN1_ENST00000564289.1_Intron	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1						signal transduction (GO:0007165)	cytoplasm (GO:0005737)		p.?(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGTGGCCTTACGGGTTTGTGC	0.652																																						uc010bsg.1																			2	Unknown(2)		lung(2)	skin(2)	2						c.e16+1		CASK interacting protein 1							31.0	37.0	35.0					16																	2233646		2074	4214	6288	SO:0001630	splice_region_variant	57524				signal transduction	cytoplasm		g.chr16:2233646C>A	AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1629+1G>T	16.37:g.2233646C>A							p.P543_splice	NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN			16	1661	-								Q9P2P0	Splice_Site	SNP	ENST00000343516.6	37	c.1629_splice	CCDS42103.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.542253	0.27563	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	.	.	.	3.75	3.75	0.43078	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0666	0.71999	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CASKIN1	2173647	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	5.799000	0.69101	2.088000	0.63022	0.205000	0.17691	.		PASS	0.652	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435055.1	NM_020764	Intron	18	22	18	22	---	---	---	---
VWA3A	146177	broad.mit.edu	37	16	22143039	22143039	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr16:22143039G>T	ENST00000389398.5	+	19	1957	c.1861G>T	c.(1861-1863)Gac>Tac	p.D621Y	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	621	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)		p.D621Y(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGGCATCCCCGACCAGGACAT	0.562																																						uc010vbq.1																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1861-1863)GAC>TAC		von Willebrand factor A domain containing 3A							47.0	49.0	48.0					16																	22143039		1933	4136	6069	SO:0001583	missense	146177					extracellular region		g.chr16:22143039G>T	AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1861G>T	16.37:g.22143039G>T	ENSP00000374049:p.Asp621Tyr					VWA3A_uc010bxd.2_RNA|VWA3A_uc010bxc.2_Missense_Mutation_p.D629Y	p.D621Y	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN		GBM - Glioblastoma multiforme(48;0.0439)	19	1957	+			621			VWFA 1.		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Missense_Mutation	SNP	ENST00000389398.5	37	c.1861G>T	CCDS45441.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395161	0.62066	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	T	0.23348	1.91	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.64504	-0.6392	10	0.87932	D	0	.	17.4177	0.87505	0.0:0.0:1.0:0.0	.	621;245	A6NCI4;A6NCI4-2	VWA3A_HUMAN;.	Y	621;244	ENSP00000374049:D621Y	ENSP00000299840:D244Y	D	+	1	0	VWA3A	22050540	1.000000	0.71417	0.963000	0.40424	0.487000	0.33371	6.685000	0.74543	2.438000	0.82558	0.563000	0.77884	GAC		PASS	0.562	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430052.1			16	16	16	16	---	---	---	---
ATXN2L	11273	broad.mit.edu	37	16	28844802	28844802	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr16:28844802C>G	ENST00000336783.4	+	15	2165	c.1998C>G	c.(1996-1998)ttC>ttG	p.F666L	ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000382686.4_Missense_Mutation_p.F666L|ATXN2L_ENST00000340394.8_Missense_Mutation_p.F666L|ATXN2L_ENST00000325215.6_Missense_Mutation_p.F666L|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Missense_Mutation_p.F666L|ATXN2L_ENST00000570200.1_Missense_Mutation_p.F666L|ATXN2L_ENST00000564304.1_Missense_Mutation_p.F672L	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	666					regulation of cytoplasmic mRNA processing body assembly (GO:0010603)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nuclear speck (GO:0016607)	poly(A) RNA binding (GO:0044822)	p.F666L(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CTAAGGAGTTCAATCCTACAA	0.473																																						uc002drc.2																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1996-1998)TTC>TTG		ataxin 2 related protein isoform A							125.0	94.0	104.0					16																	28844802		2197	4300	6497	SO:0001583	missense	11273					membrane		g.chr16:28844802C>G		CCDS10639.1, CCDS10640.1, CCDS10641.1, CCDS32423.1, CCDS45451.1, CCDS58443.1	16p11	2008-02-05			ENSG00000168488	ENSG00000168488			31326	protein-coding gene	gene with protein product		607931				11784712, 14769358	Standard	NM_007245		Approved	A2lp, A2D	uc002dqy.4	Q8WWM7	OTTHUMG00000097038	ENST00000336783.4:c.1998C>G	16.37:g.28844802C>G	ENSP00000338718:p.Phe666Leu					uc010vct.1_Intron|ATXN2L_uc002drb.2_Missense_Mutation_p.F666L|ATXN2L_uc002dqy.2_Missense_Mutation_p.F666L|ATXN2L_uc002dra.2_Missense_Mutation_p.F666L|ATXN2L_uc002dqz.2_Missense_Mutation_p.F666L|ATXN2L_uc010vdb.1_Missense_Mutation_p.F672L|ATXN2L_uc002dre.2_Missense_Mutation_p.F666L|ATXN2L_uc002drf.2_Missense_Mutation_p.F75L|ATXN2L_uc002drg.2_5'Flank	p.F666L	NM_007245	NP_009176	Q8WWM7	ATX2L_HUMAN			15	2166	+			666					A8K1R6|B9EGM2|E9PAR9|O95135|Q63ZY4|Q6NVJ8|Q6PJW6|Q8IU61|Q8IU95|Q8WWM3|Q8WWM4|Q8WWM5|Q8WWM6|Q99703	Missense_Mutation	SNP	ENST00000336783.4	37	c.1998C>G	CCDS10641.1	.	.	.	.	.	.	.	.	.	.	.	18.60	3.658338	0.67586	.	.	ENSG00000168488	ENST00000340394;ENST00000395547;ENST00000336783;ENST00000382686;ENST00000325215	T;T;T;T;T	0.73575	-0.65;-0.76;-0.71;-0.66;-0.68	5.6	1.5	0.22942	Ataxin-2, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.79167	0.4400	L	0.57536	1.79	0.50313	D	0.999867	D;D;D;D;D;D;D	0.69078	0.996;0.997;0.997;0.996;0.996;0.997;0.996	D;D;D;D;D;D;D	0.77004	0.98;0.989;0.989;0.98;0.98;0.989;0.98	T	0.72724	-0.4207	10	0.23891	T	0.37	-10.4809	8.5386	0.33379	0.0:0.6239:0.0:0.3761	.	666;666;666;666;666;666;666	Q8WWM7-6;Q63ZY4;Q8WWM7;Q8WWM7-2;Q8WWM7-4;A8K1R6;Q8WWM7-3	.;.;ATX2L_HUMAN;.;.;.;.	L	666	ENSP00000341459:F666L;ENSP00000378917:F666L;ENSP00000338718:F666L;ENSP00000372133:F666L;ENSP00000315650:F666L	ENSP00000315650:F666L	F	+	3	2	ATXN2L	28752303	0.998000	0.40836	0.990000	0.47175	0.874000	0.50279	0.577000	0.23758	0.064000	0.16427	0.563000	0.77884	TTC		PASS	0.473	ATXN2L-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000214139.1	NM_007245		21	20	21	20	---	---	---	---
ADCY7	113	broad.mit.edu	37	16	50326585	50326585	+	Splice_Site	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr16:50326585A>T	ENST00000394697.2	+	5	877		c.e5-1		ADCY7_ENST00000566433.2_Splice_Site|ADCY7_ENST00000254235.3_Splice_Site|ADCY7_ENST00000538642.1_Splice_Site|ADCY7_ENST00000564044.1_Splice_Site|ADCY7_ENST00000537579.1_Splice_Site			P51828	ADCY7_HUMAN	adenylate cyclase 7						activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to ethanol (GO:0071361)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|maternal process involved in female pregnancy (GO:0060135)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cAMP biosynthetic process (GO:0030819)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.?(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)		GTCTACCCGCAGCTGCTGGCC	0.602																																						uc002egd.1																			1	Unknown(1)		lung(1)	skin(1)	1						c.e4-2		adenylate cyclase 7	Bromocriptine(DB01200)						90.0	77.0	82.0					16																	50326585		2198	4300	6498	SO:0001630	splice_region_variant	113				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	g.chr16:50326585A>T	D25538	CCDS10741.1, CCDS73882.1	16q12.1	2013-02-04			ENSG00000121281	ENSG00000121281	4.6.1.1	"""Adenylate cyclases"""	238	protein-coding gene	gene with protein product		600385				7860067	Standard	NM_001286057		Approved	KIAA0037, AC7	uc002egd.1	P51828	OTTHUMG00000133172	ENST00000394697.2:c.538-1A>T	16.37:g.50326585A>T						ADCY7_uc002egb.1_Splice_Site_p.L180_splice|ADCY7_uc002egc.1_Splice_Site_p.L180_splice	p.L180_splice	NM_001114	NP_001105	P51828	ADCY7_HUMAN		GBM - Glioblastoma multiforme(240;0.195)	4	806	+		all_cancers(37;0.0127)						A0AVA6	Splice_Site	SNP	ENST00000394697.2	37	c.538_splice	CCDS10741.1	.	.	.	.	.	.	.	.	.	.	A	13.06	2.123383	0.37436	.	.	ENSG00000121281	ENST00000538642;ENST00000394697;ENST00000537579;ENST00000254235	.	.	.	4.72	4.72	0.59763	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3732	0.66854	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ADCY7	48884086	1.000000	0.71417	0.983000	0.44433	0.125000	0.20455	8.949000	0.93012	1.974000	0.57490	0.533000	0.62120	.		PASS	0.602	ADCY7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256877.3		Intron	37	48	37	48	---	---	---	---
COG4	25839	broad.mit.edu	37	16	70524265	70524265	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr16:70524265C>T	ENST00000323786.5	-	13	1699	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	556					Golgi organization (GO:0007030)|Golgi vesicle prefusion complex stabilization (GO:0048213)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	Golgi transport complex (GO:0017119)|membrane (GO:0016020)		p.E560K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GAGATGTTTTCACTGCAGACT	0.507																																						uc002ezc.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1678-1680)GAA>AAA		component of oligomeric golgi complex 4							193.0	151.0	165.0					16																	70524265		2198	4300	6498	SO:0001583	missense	25839				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding	g.chr16:70524265C>T	AL050101	CCDS10892.2, CCDS73909.1	16q22.1	2013-09-20			ENSG00000103051	ENSG00000103051		"""Components of oligomeric golgi complex"""	18620	protein-coding gene	gene with protein product		606976				11980916	Standard	NM_015386		Approved	COD1, DKFZP586E1519	uc002ezc.3	Q9H9E3	OTTHUMG00000128515	ENST00000323786.5:c.1678G>A	16.37:g.70524265C>T	ENSP00000315775:p.Glu560Lys					COG4_uc002eza.2_5'UTR|COG4_uc002ezb.2_Intron|COG4_uc010cfu.2_RNA|COG4_uc002ezd.2_Intron|COG4_uc002eze.2_Missense_Mutation_p.E254K	p.E560K	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN			13	1689	-		Ovarian(137;0.0694)	556					B4DMN8|C9JS23|Q96D40|Q9BRF0|Q9BVZ2|Q9H5Y4|Q9Y3W3	Missense_Mutation	SNP	ENST00000323786.5	37	c.1678G>A	CCDS10892.2	.	.	.	.	.	.	.	.	.	.	C	37	6.187956	0.97362	.	.	ENSG00000103051	ENST00000323786;ENST00000539961	T	0.53640	0.61	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.72045	0.3412	M	0.80982	2.52	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.66497	0.936;0.944	T	0.73097	-0.4090	10	0.87932	D	0	-16.349	20.8794	0.99867	0.0:1.0:0.0:0.0	.	466;556	Q8N8L9;Q9H9E3	.;COG4_HUMAN	K	560;218	ENSP00000315775:E560K	ENSP00000315775:E560K	E	-	1	0	COG4	69081766	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.537000	0.82033	2.941000	0.99782	0.655000	0.94253	GAA		PASS	0.507	COG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250326.3			30	46	30	46	---	---	---	---
MAF	4094	broad.mit.edu	37	16	79633671	79633671	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr16:79633671G>A	ENST00000393350.1	-	1	940	c.129C>T	c.(127-129)atC>atT	p.I43I	MAF_ENST00000326043.4_Silent_p.I43I|MAF_ENST00000569649.1_Silent_p.I43I	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	43					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I43I(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		CGCACTGGCTGATGATGCGGT	0.622			T	IGH@	MM																																	uc002ffn.2				Dom	yes		16	16q22-q23	4094	T	v-maf musculoaponeurotic fibrosarcoma oncogene homolog			L	IGH@		MM		1	Substitution - coding silent(1)		lung(1)	lung(1)	1						c.(127-129)ATC>ATT		v-maf musculoaponeurotic fibrosarcoma oncogene							26.0	31.0	29.0					16																	79633671		2198	4300	6498	SO:0001819	synonymous_variant	4094				transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr16:79633671G>A		CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.129C>T	16.37:g.79633671G>A						MAF_uc002ffm.2_Silent_p.I43I	p.I43I	NM_001031804	NP_001026974	O75444	MAF_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)	1	952	-		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)	43					Q66I47|Q9UP93	Silent	SNP	ENST00000393350.1	37	c.129C>T	CCDS42198.1																																																																																				PASS	0.622	MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1			23	29	23	29	---	---	---	---
GLOD4	51031	broad.mit.edu	37	17	685696	685696	+	5'Flank	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:685696G>T	ENST00000301328.5	-	0	0				RNMTL1_ENST00000304478.4_Silent_p.A26A|GLOD4_ENST00000301329.6_5'Flank|GLOD4_ENST00000536578.1_5'Flank			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)		p.A26A(1)		endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACCTTGACGCGAGGCGCTGGG	0.677																																						uc002frw.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(76-78)GCG>GCT		RNA methyltransferase like 1							30.0	34.0	33.0					17																	685696		2203	4299	6502	SO:0001631	upstream_gene_variant	55178				RNA processing		protein binding|RNA binding|RNA methyltransferase activity	g.chr17:685696G>T	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38			17.37:g.685696G>T	Exception_encountered					GLOD4_uc002fru.2_5'Flank|GLOD4_uc010vqc.1_5'Flank|GLOD4_uc002frv.2_5'Flank	p.A26A	NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)	1	184	+			26					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	ENST00000301328.5	37	c.78G>T																																																																																					PASS	0.677	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		23	34	23	34	---	---	---	---
OR3A1	4994	broad.mit.edu	37	17	3195848	3195848	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:3195848G>T	ENST00000323404.1	-	1	28	c.29C>A	c.(28-30)aCa>aAa	p.T10K	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	10					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T10K(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						AGCAATGACTGTTCCATTGGC	0.502																																					GBM(20;287 516 18743 28660 36594)	uc002fvh.1																			1	Substitution - Missense(1)		lung(1)	kidney(2)|central_nervous_system(1)	3						c.(28-30)ACA>AAA		olfactory receptor, family 3, subfamily A,							48.0	52.0	51.0					17																	3195848		2203	4300	6503	SO:0001583	missense	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195848G>T	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.29C>A	17.37:g.3195848G>T	ENSP00000313803:p.Thr10Lys						p.T10K	NM_002550	NP_002541	P47881	OR3A1_HUMAN			1	29	-			10			Extracellular (Potential).		Q4VB06|Q6IFM4	Missense_Mutation	SNP	ENST00000323404.1	37	c.29C>A	CCDS11023.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.927255	0.92389	.	.	ENSG00000180090	ENST00000323404	T	0.04758	3.56	6.1	6.1	0.99115	.	0.151000	0.30859	N	0.008721	T	0.20577	0.0495	M	0.88906	2.99	0.09310	N	0.999996	P	0.51240	0.943	P	0.53224	0.721	T	0.10543	-1.0625	10	0.87932	D	0	-11.5502	15.6559	0.77133	0.0:0.1374:0.8626:0.0	.	10	P47881	OR3A1_HUMAN	K	10	ENSP00000313803:T10K	ENSP00000313803:T10K	T	-	2	0	OR3A1	3142598	0.123000	0.22298	0.841000	0.33234	0.604000	0.37047	1.034000	0.30204	2.902000	0.99343	0.650000	0.86243	ACA		PASS	0.502	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			23	55	23	55	---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5421084	5421084	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:5421084C>T	ENST00000572272.1	-	15	4038	c.4039G>A	c.(4039-4041)Gag>Aag	p.E1347K	NLRP1_ENST00000577119.1_Missense_Mutation_p.E1273K|NLRP1_ENST00000345221.3_Missense_Mutation_p.E1303K|NLRP1_ENST00000262467.5_Missense_Mutation_p.E1351K|NLRP1_ENST00000354411.3_Missense_Mutation_p.E1317K|NLRP1_ENST00000269280.4_Missense_Mutation_p.E1303K			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1347					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)	p.E1347K(2)|p.E1351K(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				ACCAAGGCCTCCCACACCAGA	0.522																																						uc002gci.2																			3	Substitution - Missense(3)		lung(3)	lung(4)|breast(2)|ovary(1)|central_nervous_system(1)|skin(1)	9						c.(4039-4041)GAG>AAG		NLR family, pyrin domain containing 1 isoform 1							148.0	133.0	138.0					17																	5421084		2203	4300	6503	SO:0001583	missense	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5421084C>T	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.4039G>A	17.37:g.5421084C>T	ENSP00000460475:p.Glu1347Lys					NLRP1_uc002gcg.1_Missense_Mutation_p.E1351K|NLRP1_uc002gck.2_Missense_Mutation_p.E1303K|NLRP1_uc002gcj.2_Missense_Mutation_p.E1317K|NLRP1_uc002gcl.2_Missense_Mutation_p.E1273K|NLRP1_uc002gch.3_Missense_Mutation_p.E1303K	p.E1347K	NM_033004	NP_127497	Q9C000	NALP1_HUMAN			15	4594	-		Colorectal(1115;3.48e-05)	1347					E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	ENST00000572272.1	37	c.4039G>A	CCDS42246.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274195	0.40194	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411;ENST00000345221	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	4.07	-1.56	0.08532	.	0.662303	0.12472	N	0.465890	T	0.28234	0.0697	L	0.55990	1.75	0.26009	N	0.98201	D;D;D;D;D	0.58970	0.98;0.98;0.984;0.98;0.984	D;D;D;D;D	0.68483	0.929;0.929;0.958;0.929;0.958	T	0.12426	-1.0548	10	0.87932	D	0	.	5.0277	0.14393	0.0:0.3834:0.1527:0.4639	.	1273;1317;1347;1303;1351	Q9C000-3;Q9C000-4;Q9C000;Q9C000-2;E9PE50	.;.;NALP1_HUMAN;.;.	K	1351;1351;1347;1317;1303	ENSP00000442029:E1351K;ENSP00000262467:E1351K;ENSP00000346390:E1317K;ENSP00000324366:E1303K	ENSP00000262467:E1351K	E	-	1	0	NLRP1	5361808	0.008000	0.16893	0.329000	0.25429	0.328000	0.28507	-0.946000	0.03905	-0.322000	0.08615	-0.300000	0.09419	GAG		PASS	0.522	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		17	136	17	136	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577088	7577088	+	Missense_Mutation	SNP	T	T	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:7577088T>G	ENST00000269305.4	-	8	1039	c.850A>C	c.(850-852)Aca>Cca	p.T284P	TP53_ENST00000420246.2_Missense_Mutation_p.T284P|TP53_ENST00000445888.2_Missense_Mutation_p.T284P|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.T284P|TP53_ENST00000359597.4_Missense_Mutation_p.T284P	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	284	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.T284P(9)|p.0?(8)|p.T284A(3)|p.?(2)|p.T284fs*21(2)|p.T284fs*62(2)|p.R283fs*16(2)|p.T284fs*61(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.R283fs*59(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTTCCTCTGTGCGCCGGTCT	0.562		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		39	Substitution - Missense(12)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(2)|Unknown(2)	p.0?(7)|p.T284P(7)|p.T284fs*61(3)|p.T284T(3)|p.T284A(3)|p.?(2)|p.T284fs*21(2)|p.T284fs*62(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.T284I(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.R283_T284>T(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.R283fs*59(1)	haematopoietic_and_lymphoid_tissue(7)|upper_aerodigestive_tract(5)|large_intestine(5)|breast(4)|ovary(4)|bone(4)|stomach(3)|lung(3)|central_nervous_system(2)|urinary_tract(1)|skin(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245						c.(850-852)ACA>CCA	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							88.0	75.0	79.0					17																	7577088		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577088T>G	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.850A>C	17.37:g.7577088T>G	ENSP00000269305:p.Thr284Pro	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.T284P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.T152P|TP53_uc010cng.1_Missense_Mutation_p.T152P|TP53_uc002gii.1_Missense_Mutation_p.T152P|TP53_uc010cnh.1_Missense_Mutation_p.T284P|TP53_uc010cni.1_Missense_Mutation_p.T284P|TP53_uc002gij.2_Missense_Mutation_p.T284P	p.T284P	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1044	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	284		T -> A (in sporadic cancers; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.850A>C	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	16.07	3.019448	0.54576	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99814	-6.89;-6.89;-6.89;-6.89;-6.89;-6.89	4.99	3.91	0.45181	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.107070	0.64402	D	0.000006	D	0.99664	0.9875	M	0.84326	2.69	0.21627	N	0.999611	D;D;D;D	0.89917	1.0;0.975;1.0;0.998	D;P;D;D	0.87578	0.996;0.823;0.998;0.997	D	0.99278	1.0895	10	0.87932	D	0	-8.9948	8.9647	0.35869	0.0:0.0886:0.0:0.9114	.	284;284;284;284	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	P	284;284;284;284;284;273;152	ENSP00000352610:T284P;ENSP00000269305:T284P;ENSP00000398846:T284P;ENSP00000391127:T284P;ENSP00000391478:T284P;ENSP00000425104:T152P	ENSP00000269305:T284P	T	-	1	0	TP53	7517813	0.922000	0.31269	0.018000	0.16275	0.833000	0.47200	1.523000	0.35932	0.909000	0.36697	0.379000	0.24179	ACA		PASS	0.562	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		9	44	9	44	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7579355	7579355	+	Missense_Mutation	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:7579355A>T	ENST00000269305.4	-	4	521	c.332T>A	c.(331-333)cTg>cAg	p.L111Q	TP53_ENST00000420246.2_Missense_Mutation_p.L111Q|TP53_ENST00000445888.2_Missense_Mutation_p.L111Q|TP53_ENST00000413465.2_Missense_Mutation_p.L111Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.L111Q|TP53_ENST00000359597.4_Missense_Mutation_p.L111Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	111	Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		L -> M (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.L111R(11)|p.0?(8)|p.L111Q(7)|p.L111P(6)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.L111fs*10(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAAGAAGCCCAGACGGAAACC	0.617		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	uc002gim.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		43	Substitution - Missense(24)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(2)|Deletion - In frame(1)|Complex - frameshift(1)	p.0?(7)|p.L111P(6)|p.L111Q(4)|p.L111R(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.Y107fs*44(1)|p.L111L(1)|p.L111M(1)|p.L111fs*10(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y103_L111>L(1)	lung(9)|upper_aerodigestive_tract(7)|liver(6)|large_intestine(5)|central_nervous_system(4)|bone(4)|breast(4)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|urinary_tract(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CX942126	TP53	X		c.(331-333)CTG>CAG	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							64.0	60.0	61.0					17																	7579355		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7579355A>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.332T>A	17.37:g.7579355A>T	ENSP00000269305:p.Leu111Gln	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Missense_Mutation_p.L111Q|TP53_uc002gih.2_Missense_Mutation_p.L111Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.L111Q|TP53_uc010cni.1_Missense_Mutation_p.L111Q|TP53_uc002gij.2_Missense_Mutation_p.L111Q|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.L72Q|TP53_uc010cnk.1_Missense_Mutation_p.L126Q	p.L111Q	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	4	526	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	111		L -> Q (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> M (in a sporadic cancer; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).	|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.332T>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.124348	0.77436	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99837	-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06;-7.06	4.75	4.75	0.60458	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.64402	D	0.000001	D	0.99760	0.9903	M	0.81942	2.565	0.48236	D	0.999615	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.991;0.992;1.0;0.994;1.0;1.0;0.99	D	0.96946	0.9691	10	0.87932	D	0	-10.3745	12.5363	0.56144	1.0:0.0:0.0:0.0	.	72;111;111;111;111;111;111	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	Q	111	ENSP00000410739:L111Q;ENSP00000352610:L111Q;ENSP00000269305:L111Q;ENSP00000398846:L111Q;ENSP00000391127:L111Q;ENSP00000391478:L111Q;ENSP00000424104:L111Q;ENSP00000426252:L111Q	ENSP00000269305:L111Q	L	-	2	0	TP53	7520080	0.739000	0.28196	0.244000	0.24202	0.958000	0.62258	7.389000	0.79806	2.125000	0.65367	0.533000	0.62120	CTG		PASS	0.617	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		23	48	23	48	---	---	---	---
EFNB3	1949	broad.mit.edu	37	17	7612580	7612580	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:7612580C>T	ENST00000226091.2	+	5	1106	c.709C>T	c.(709-711)Ctg>Ttg	p.L237L		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	237					adult walking behavior (GO:0007628)|axon choice point recognition (GO:0016198)|axon guidance (GO:0007411)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|nervous system development (GO:0007399)|viral process (GO:0016032)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)|transmembrane-ephrin receptor activity (GO:0005005)	p.L237L(1)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				GGGGCTGGCGCTGCTCTTGCT	0.716																																						uc002gis.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(709-711)CTG>TTG		ephrin-B3 precursor							14.0	17.0	16.0					17																	7612580		2080	4151	6231	SO:0001819	synonymous_variant	1949				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	g.chr17:7612580C>T	U57001	CCDS11120.1	17p13.1	2011-03-09			ENSG00000108947	ENSG00000108947		"""Ephrins"""	3228	protein-coding gene	gene with protein product		602297		EPLG8		9126477	Standard	NM_001406		Approved	LERK-8	uc002gis.3	Q15768	OTTHUMG00000108161	ENST00000226091.2:c.709C>T	17.37:g.7612580C>T							p.L237L	NM_001406	NP_001397	Q15768	EFNB3_HUMAN			5	1106	+		all_cancers(10;1.14e-06)|Prostate(122;0.081)	237			Helical; (Potential).		B2RBW2|D3DTQ6|O00680|Q8TBH7|Q92875	Silent	SNP	ENST00000226091.2	37	c.709C>T	CCDS11120.1																																																																																				PASS	0.716	EFNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226965.1	NM_001406		9	22	9	22	---	---	---	---
DNAH2	146754	broad.mit.edu	37	17	7643162	7643162	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:7643162G>T	ENST00000572933.1	+	9	2742	c.1282G>T	c.(1282-1284)Gag>Tag	p.E428*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.E428*|DNAH2_ENST00000570791.1_Nonsense_Mutation_p.E510*|DNAH2_ENST00000082259.3_Nonsense_Mutation_p.E510*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	428	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E428*(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCTGGAGATTGAGGACATCTT	0.527																																						uc002giu.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(6)|central_nervous_system(1)	13						c.(1282-1284)GAG>TAG		dynein heavy chain domain 3							72.0	68.0	69.0					17																	7643162		2203	4300	6503	SO:0001587	stop_gained	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7643162G>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.1282G>T	17.37:g.7643162G>T	ENSP00000458355:p.Glu428*					DNAH2_uc002git.2_Nonsense_Mutation_p.E510*|DNAH2_uc010vuk.1_Nonsense_Mutation_p.E428*	p.E428*	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			8	1296	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	428			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	ENST00000572933.1	37	c.1282G>T	CCDS32551.1	.	.	.	.	.	.	.	.	.	.	G	38	7.240966	0.98157	.	.	ENSG00000183914	ENST00000360606;ENST00000389173;ENST00000082259	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	17.4777	0.87664	0.0:0.0:1.0:0.0	.	.	.	.	X	428;428;510	.	ENSP00000082259:E510X	E	+	1	0	DNAH2	7583887	1.000000	0.71417	0.988000	0.46212	0.997000	0.91878	8.265000	0.89869	2.669000	0.90835	0.650000	0.86243	GAG		PASS	0.527	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		7	45	7	45	---	---	---	---
NTN1	9423	broad.mit.edu	37	17	9066153	9066153	+	Missense_Mutation	SNP	C	C	T	rs375204917		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:9066153C>T	ENST00000173229.2	+	3	1149	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	NTN1_ENST00000546090.1_Missense_Mutation_p.R348W|NTN1_ENST00000538852.1_Missense_Mutation_p.R348W	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	348	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|establishment of nucleus localization (GO:0040023)|inner ear morphogenesis (GO:0042472)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of axon extension (GO:0030517)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of cell proliferation (GO:0008284)|regulation of cell migration (GO:0030334)|single organismal cell-cell adhesion (GO:0016337)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)		p.R348W(1)	NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CCTGCATGCCCGGCGCTGCCG	0.642													C|||	1	0.000199681	0.0	0.0	5008	,	,		14601	0.0		0.0	False		,,,				2504	0.001					uc002glw.3																			1	Substitution - Missense(1)		lung(1)		0						c.(1042-1044)CGG>TGG		netrin 1 precursor		C	TRP/ARG	0,4406		0,0,2203	69.0	72.0	71.0		1042	3.4	1.0	17		71	2,8598		0,2,4298	no	missense	NTN1	NM_004822.2	101	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging	348/605	9066153	2,13004	2203	4300	6503	SO:0001583	missense	9423				apoptosis|axon guidance		protein binding	g.chr17:9066153C>T	U75586	CCDS11148.1	17p13-p12	2013-03-01			ENSG00000065320	ENSG00000065320		"""Netrins"""	8029	protein-coding gene	gene with protein product	"""Netrin-1"""	601614				9950216	Standard	NM_004822		Approved	NTN1L	uc002glw.4	O95631	OTTHUMG00000130257	ENST00000173229.2:c.1042C>T	17.37:g.9066153C>T	ENSP00000173229:p.Arg348Trp						p.R348W	NM_004822	NP_004813	O95631	NET1_HUMAN			3	1149	+			348			Laminin EGF-like 2.		E9KL51	Missense_Mutation	SNP	ENST00000173229.2	37	c.1042C>T	CCDS11148.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757600	0.69648	0.0	2.33E-4	ENSG00000065320	ENST00000173229;ENST00000538852;ENST00000546090	T;T;T	0.64085	-0.08;-0.08;-0.08	4.38	3.36	0.38483	EGF-like, laminin (3);	0.000000	0.85682	D	0.000000	T	0.81640	0.4865	M	0.91818	3.245	0.54753	D	0.999981	D	0.89917	1.0	D	0.83275	0.996	D	0.84581	0.0661	10	0.72032	D	0.01	.	12.1379	0.53982	0.3109:0.6891:0.0:0.0	.	348	O95631	NET1_HUMAN	W	348	ENSP00000173229:R348W;ENSP00000443259:R348W;ENSP00000441611:R348W	ENSP00000173229:R348W	R	+	1	2	NTN1	9006878	0.901000	0.30685	1.000000	0.80357	0.997000	0.91878	1.175000	0.31944	0.890000	0.36211	0.557000	0.71058	CGG		PASS	0.642	NTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252583.1			51	82	51	82	---	---	---	---
MYH4	4622	broad.mit.edu	37	17	10356989	10356989	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:10356989C>G	ENST00000255381.2	-	23	3015	c.2905G>C	c.(2905-2907)Gag>Cag	p.E969Q	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	969					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)	p.E969Q(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TTCTCCTTCTCAACCTTGGCC	0.378																																						uc002gmn.2																			1	Substitution - Missense(1)		lung(1)	ovary(10)|skin(2)|central_nervous_system(1)	13						c.(2905-2907)GAG>CAG		myosin, heavy polypeptide 4, skeletal muscle							257.0	241.0	246.0					17																	10356989		2203	4300	6503	SO:0001583	missense	4622				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10356989C>G		CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.2905G>C	17.37:g.10356989C>G	ENSP00000255381:p.Glu969Gln					uc002gml.1_Intron	p.E969Q	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN			23	3016	-			969			Potential.			Missense_Mutation	SNP	ENST00000255381.2	37	c.2905G>C	CCDS11154.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.521785	0.85600	.	.	ENSG00000141048	ENST00000255381	D	0.86497	-2.13	5.81	5.81	0.92471	.	0.000000	0.37715	U	0.001978	D	0.92662	0.7668	L	0.58810	1.83	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92029	0.5632	10	0.59425	D	0.04	.	20.4375	0.99097	0.0:1.0:0.0:0.0	.	969	Q9Y623	MYH4_HUMAN	Q	969	ENSP00000255381:E969Q	ENSP00000255381:E969Q	E	-	1	0	MYH4	10297714	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.689000	0.84165	2.906000	0.99361	0.655000	0.94253	GAG		PASS	0.378	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252731.1	NM_017533		44	224	44	224	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10399469	10399469	+	Splice_Site	SNP	T	T	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:10399469T>A	ENST00000226207.5	-	35	5061	c.4967A>T	c.(4966-4968)gAt>gTt	p.D1656V	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1656					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.D1656V(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GAGCTGGGTATCCTGTGGAAC	0.547																																						uc002gmo.2																			1	Substitution - Missense(1)	p.D1656Y(1)	lung(1)	ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1)	21						c.(4966-4968)GAT>GTT		myosin, heavy chain 1, skeletal muscle, adult							82.0	73.0	76.0					17																	10399469		2203	4300	6503	SO:0001630	splice_region_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10399469T>A		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.4966-1A>T	17.37:g.10399469T>A						uc002gml.1_Intron	p.D1656V	NM_005963	NP_005954	P12882	MYH1_HUMAN			35	5061	-			1656			Potential.		Q14CA4|Q9Y622	Missense_Mutation	SNP	ENST00000226207.5	37	c.4967A>T	CCDS11155.1	.	.	.	.	.	.	.	.	.	.	T	19.18	3.777749	0.70107	.	.	ENSG00000109061	ENST00000226207	T	0.80909	-1.43	5.53	5.53	0.82687	Myosin tail (1);	0.000000	0.45126	U	0.000391	D	0.92541	0.7631	H	0.96460	3.825	0.80722	D	1	P	0.37061	0.58	P	0.55455	0.776	D	0.93849	0.7143	10	0.72032	D	0.01	.	15.9523	0.79850	0.0:0.0:0.0:1.0	.	1656	P12882	MYH1_HUMAN	V	1656	ENSP00000226207:D1656V	ENSP00000226207:D1656V	D	-	2	0	MYH1	10340194	1.000000	0.71417	1.000000	0.80357	0.595000	0.36748	6.026000	0.70873	2.226000	0.72624	0.533000	0.62120	GAT		PASS	0.547	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963	Missense_Mutation	38	52	38	52	---	---	---	---
MYOCD	93649	broad.mit.edu	37	17	12656532	12656532	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:12656532G>A	ENST00000343344.4	+	10	1927	c.1927G>A	c.(1927-1929)Gtg>Atg	p.V643M	MYOCD_ENST00000425538.1_Missense_Mutation_p.V643M|AC005358.1_ENST00000609971.1_Missense_Mutation_p.V547M|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	643					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)	p.V643M(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCTGGGGGCTGTGAAAAGCCC	0.557																																						uc002gnn.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(2)|skin(2)|ovary(1)	5						c.(1927-1929)GTG>ATG		myocardin isoform 2							93.0	97.0	96.0					17																	12656532		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656532G>A	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1927G>A	17.37:g.12656532G>A	ENSP00000341835:p.Val643Met					MYOCD_uc002gno.2_Missense_Mutation_p.V643M|MYOCD_uc002gnp.1_Missense_Mutation_p.V547M|MYOCD_uc002gnq.2_Missense_Mutation_p.V362M	p.V643M	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	2226	+			643					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1927G>A	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	9.015	0.983479	0.18889	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.47869	0.85;0.83	5.7	2.51	0.30379	.	0.379779	0.25205	N	0.032349	T	0.44829	0.1312	M	0.61703	1.905	0.09310	N	0.999997	P;P;P;P	0.50272	0.788;0.933;0.865;0.71	B;P;B;B	0.46237	0.246;0.508;0.331;0.234	T	0.36841	-0.9731	10	0.51188	T	0.08	-8.2895	5.1931	0.15220	0.2278:0.3056:0.4666:0.0	.	362;547;643;643	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	M	362;643;643;547;348	ENSP00000341835:V643M;ENSP00000400148:V348M	ENSP00000341835:V643M	V	+	1	0	MYOCD	12597257	0.338000	0.24775	0.609000	0.28983	0.211000	0.24417	0.883000	0.28200	0.305000	0.22832	-0.145000	0.13849	GTG		PASS	0.557	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		31	122	31	122	---	---	---	---
FLII	2314	broad.mit.edu	37	17	18148479	18148479	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:18148479C>G	ENST00000327031.4	-	30	4008	c.3783G>C	c.(3781-3783)tgG>tgC	p.W1261C	FLII_ENST00000545457.2_Missense_Mutation_p.W1206C|FLII_ENST00000379450.4_Missense_Mutation_p.W1175C|FLII_ENST00000579294.1_Missense_Mutation_p.W1250C|FLII_ENST00000578558.1_Missense_Mutation_p.G671A	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1261					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.W1261C(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					AGAAGGCGCTCCAGGCGTGGA	0.637																																						uc002gsr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(3781-3783)TGG>TGC		flightless I homolog							85.0	93.0	91.0					17																	18148479		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18148479C>G	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3783G>C	17.37:g.18148479C>G	ENSP00000324573:p.Trp1261Cys					FLII_uc002gsq.1_Missense_Mutation_p.W1132C|FLII_uc010cpy.1_Missense_Mutation_p.W1250C|FLII_uc010vxn.1_Missense_Mutation_p.W1230C|FLII_uc010vxo.1_Missense_Mutation_p.W1206C	p.W1261C	NM_002018	NP_002009	Q13045	FLII_HUMAN			30	3834	-	all_neural(463;0.228)		1261					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3783G>C	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528484	0.85706	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.26067	1.76;1.76	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.53400	0.1794	M	0.76170	2.325	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.999	D;D;D;D	0.97110	0.994;0.994;1.0;0.994	T	0.56661	-0.7942	10	0.87932	D	0	-11.7965	18.3893	0.90477	0.0:1.0:0.0:0.0	.	1175;1175;1261;1230	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	C	1261;1140;1175	ENSP00000324573:W1261C;ENSP00000368763:W1175C	ENSP00000324573:W1261C	W	-	3	0	FLII	18089204	1.000000	0.71417	1.000000	0.80357	0.751000	0.42716	7.240000	0.78192	2.746000	0.94184	0.655000	0.94253	TGG		PASS	0.637	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		40	163	40	163	---	---	---	---
FLII	2314	broad.mit.edu	37	17	18148904	18148904	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:18148904C>T	ENST00000327031.4	-	28	3799	c.3574G>A	c.(3574-3576)Gat>Aat	p.D1192N	FLII_ENST00000545457.2_Missense_Mutation_p.D1137N|FLII_ENST00000379450.4_Missense_Mutation_p.D1106N|FLII_ENST00000579294.1_Missense_Mutation_p.D1181N|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	1192					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)	p.D1192N(1)		central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					ATGTCATCATCTGCCAGGTCA	0.512																																						uc002gsr.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(3574-3576)GAT>AAT		flightless I homolog							203.0	182.0	189.0					17																	18148904		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18148904C>T	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.3574G>A	17.37:g.18148904C>T	ENSP00000324573:p.Asp1192Asn					FLII_uc002gsq.1_Missense_Mutation_p.D1063N|FLII_uc010cpy.1_Missense_Mutation_p.D1181N|FLII_uc010vxn.1_Missense_Mutation_p.D1161N|FLII_uc010vxo.1_Missense_Mutation_p.D1137N	p.D1192N	NM_002018	NP_002009	Q13045	FLII_HUMAN			28	3625	-	all_neural(463;0.228)		1192			Gelsolin-like 5.		B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.3574G>A	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	35	5.479474	0.96307	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T;T	0.21734	1.99;1.99;1.99	5.42	5.42	0.78866	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	L	0.61036	1.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.992;0.997	T	0.42172	-0.9467	10	0.72032	D	0.01	-19.5227	19.2136	0.93767	0.0:1.0:0.0:0.0	.	1106;1106;1192;1161	E7EPM0;B4DIL0;Q13045;B4DIX0	.;.;FLII_HUMAN;.	N	1192;1071;1106	ENSP00000324573:D1192N;ENSP00000438536:D1071N;ENSP00000368763:D1106N	ENSP00000324573:D1192N	D	-	1	0	FLII	18089629	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.719000	0.68462	2.541000	0.85698	0.655000	0.94253	GAT		PASS	0.512	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		31	136	31	136	---	---	---	---
MFAP4	4239	broad.mit.edu	37	17	19288704	19288705	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:19288704_19288705CC>AA	ENST00000299610.4	-	4	387_388	c.303_304GG>TT	c.(301-306)ctGGgc>ctTTgc	p.G102C	MFAP4_ENST00000395592.2_Missense_Mutation_p.G126C|MFAP4_ENST00000497081.2_Missense_Mutation_p.G127C|MFAP4_ENST00000574313.2_5'Flank	NM_002404.2	NP_002395.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	102	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				cell adhesion (GO:0007155)|cellular response to UV-B (GO:0071493)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|regulation of collagen metabolic process (GO:0010712)|UV protection (GO:0009650)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)		p.G102C(2)|p.G126C(2)|p.L101L(1)|p.L125L(1)		large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CGGCCGAAGCCCAGCTTGTAGT	0.579																																						uc002gvt.2																			6	Substitution - Missense(4)|Substitution - coding silent(2)		lung(6)		0						c.(304-306)GGC>TGC|c.(301-303)CTG>CTT		microfibrillar-associated protein 4 precursor																																				SO:0001583	missense	4239				cell adhesion|signal transduction	microfibril	receptor binding	g.chr17:19288704C>A|g.chr17:19288705C>A	L38486	CCDS11208.1, CCDS56023.1	17p11.2	2013-02-06			ENSG00000166482	ENSG00000166482		"""Fibrinogen C domain containing"""	7035	protein-coding gene	gene with protein product	"""microfibril-associated glycoprotein 4"""	600596				7633408	Standard	NM_001198695		Approved		uc002gvs.3	P55083	OTTHUMG00000059585	ENST00000299610.4:c.303_304delinsAA	17.37:g.19288704_19288705delinsAA	ENSP00000299610:p.Gly102Cys					MFAP4_uc002gvr.2_Intron|MFAP4_uc002gvs.2_Missense_Mutation_p.G126C|MFAP4_uc002gvr.2_Intron|MFAP4_uc002gvs.2_Silent_p.L125L	p.G102C|p.L101L	NM_002404	NP_002395	P55083	MFAP4_HUMAN			4	329|328	-	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)		102|101			Fibrinogen C-terminal.		A8KAJ1|A8MVM2|B4E317|Q6P680	Missense_Mutation|Silent	SNP	ENST00000299610.4	37	c.304G>T|c.303G>T	CCDS11208.1																																																																																				PASS	0.579	MFAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132493.2	NM_002404		31	59|58	31	58	---	---	---	---
SUPT6H	6830	broad.mit.edu	37	17	27002030	27002030	+	Missense_Mutation	SNP	G	G	T	rs376272646		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:27002030G>T	ENST00000314616.6	+	5	671	c.388G>T	c.(388-390)Gat>Tat	p.D130Y	AC010761.13_ENST00000578819.1_RNA|SUPT6H_ENST00000347486.4_Missense_Mutation_p.D130Y	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	130	Asp/Glu-rich.|Interaction with IWS1. {ECO:0000250}.|Interaction with PAAF1.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D130Y(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TGACGAGGACGATGACGAGGA	0.498																																						uc002hby.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(388-390)GAT>TAT		suppressor of Ty 6 homolog							92.0	84.0	87.0					17																	27002030		2203	4300	6503	SO:0001583	missense	6830				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:27002030G>T	U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.388G>T	17.37:g.27002030G>T	ENSP00000319104:p.Asp130Tyr					SUPT6H_uc010crt.2_Missense_Mutation_p.D130Y	p.D130Y	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN			5	478	+	Lung NSC(42;0.00431)		130			Asp/Glu-rich.		A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	c.388G>T	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161209	0.57368	.	.	ENSG00000109111	ENST00000314616;ENST00000347486	.	.	.	5.41	5.41	0.78517	.	0.046129	0.85682	D	0.000000	T	0.74809	0.3765	M	0.65975	2.015	0.80722	D	1	D	0.60575	0.988	P	0.56088	0.791	T	0.77446	-0.2585	9	0.87932	D	0	-24.5167	19.558	0.95361	0.0:0.0:1.0:0.0	.	130	Q7KZ85	SPT6H_HUMAN	Y	130	.	ENSP00000319104:D130Y	D	+	1	0	SUPT6H	24026157	1.000000	0.71417	0.961000	0.40146	0.628000	0.37860	7.049000	0.76613	2.697000	0.92050	0.655000	0.94253	GAT		PASS	0.498	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170		3	63	3	63	---	---	---	---
IKZF3	22806	broad.mit.edu	37	17	37922313	37922313	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:37922313C>A	ENST00000346872.3	-	8	1321	c.1260G>T	c.(1258-1260)gaG>gaT	p.E420D	IKZF3_ENST00000535189.1_Missense_Mutation_p.E386D|IKZF3_ENST00000377952.2_Missense_Mutation_p.E199D|IKZF3_ENST00000394189.2_Missense_Mutation_p.E238D|IKZF3_ENST00000377945.3_Missense_Mutation_p.E286D|IKZF3_ENST00000350532.3_Missense_Mutation_p.E381D|IKZF3_ENST00000377958.2_Missense_Mutation_p.E333D|IKZF3_ENST00000439167.2_Missense_Mutation_p.E347D|IKZF3_ENST00000377944.3_Missense_Mutation_p.E277D|IKZF3_ENST00000439016.2_Missense_Mutation_p.E325D|RP11-94L15.2_ENST00000488188.2_lincRNA|IKZF3_ENST00000346243.3_Missense_Mutation_p.E342D|IKZF3_ENST00000467757.1_Missense_Mutation_p.E364D|IKZF3_ENST00000583368.1_Missense_Mutation_p.E173D|IKZF3_ENST00000351680.3_Missense_Mutation_p.E381D	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	420					B cell activation (GO:0042113)|mesoderm development (GO:0007498)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of B cell proliferation (GO:0030888)|regulation of lymphocyte differentiation (GO:0045619)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E420D(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			AGCGGGGAACCTCCTTCAGAA	0.542																																						uc002hsu.2																			1	Substitution - Missense(1)		lung(1)	lung(2)|kidney(2)|skin(2)	6						c.(1258-1260)GAG>GAT		aiolos isoform 1							165.0	155.0	158.0					17																	37922313		2203	4300	6503	SO:0001583	missense	22806				B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:37922313C>A	AF129512	CCDS11346.1, CCDS11347.1, CCDS11348.1, CCDS11349.1, CCDS11350.1, CCDS11351.1, CCDS58539.1, CCDS58540.1, CCDS58541.1, CCDS58542.1, CCDS58543.1, CCDS58544.1, CCDS58545.1, CCDS74055.1	17q11.2	2013-01-08	2006-08-25	2006-08-25	ENSG00000161405	ENSG00000161405		"""Zinc fingers, C2H2-type"", ""IKAROS zinc fingers"""	13178	protein-coding gene	gene with protein product		606221	"""zinc finger protein, subfamily 1A, 3 (Aiolos)"""	ZNFN1A3		9155026, 10552935	Standard	NM_012481		Approved	Aiolos	uc002hsu.4	Q9UKT9	OTTHUMG00000133250	ENST00000346872.3:c.1260G>T	17.37:g.37922313C>A	ENSP00000344544:p.Glu420Asp					IKZF3_uc002htd.2_Missense_Mutation_p.E386D|IKZF3_uc010cwd.2_Missense_Mutation_p.E277D|IKZF3_uc002hsv.2_Missense_Mutation_p.E347D|IKZF3_uc010cwe.2_Missense_Mutation_p.E286D|IKZF3_uc010cwf.2_Missense_Mutation_p.E238D|IKZF3_uc010cwg.2_Missense_Mutation_p.E199D|IKZF3_uc002hsw.2_Missense_Mutation_p.E381D|IKZF3_uc002hsx.2_Missense_Mutation_p.E364D|IKZF3_uc002hsy.2_Missense_Mutation_p.E381D|IKZF3_uc002hsz.2_Missense_Mutation_p.E325D|IKZF3_uc002hta.2_Missense_Mutation_p.E342D|IKZF3_uc002htb.2_RNA|IKZF3_uc010cwh.2_Missense_Mutation_p.E333D|IKZF3_uc002htc.2_Missense_Mutation_p.E173D|IKZF3_uc010wel.1_Missense_Mutation_p.E173D	p.E420D	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)		8	1322	-	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		420					B4DVV5|Q69BL6|Q69BL7|Q69BL8|Q69BL9|Q69BM0|Q69BM1|Q69BM2|Q69BM3|Q69BM5|Q8N574|Q8WWQ9|Q8WWR0|Q8WWR1|Q8WWR2|Q8WWR3	Missense_Mutation	SNP	ENST00000346872.3	37	c.1260G>T	CCDS11346.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.71|13.71	2.318799|2.318799	0.41096|0.41096	.|.	.|.	ENSG00000161405|ENSG00000161405	ENST00000488188;ENST00000346872;ENST00000377945;ENST00000394189;ENST00000377944;ENST00000377958;ENST00000377952;ENST00000535189;ENST00000351680;ENST00000346243;ENST00000350532;ENST00000467757|ENST00000439167;ENST00000439016	T;T;T;T;T;T;T;T;T;T|.	0.10288|.	3.3;3.37;3.11;2.89;3.56;3.16;3.23;3.23;3.13;4.17|.	5.72|5.72	4.75|4.75	0.60458|0.60458	.|.	0.000000|.	0.64402|.	D|.	0.000012|.	T|T	0.32315|0.32315	0.0825|0.0825	N|N	0.20445|0.20445	0.575|0.575	0.35230|0.35230	D|D	0.776817|0.776817	B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.24186|.	0.033;0.099;0.099;0.099;0.088;0.075;0.032;0.099;0.033;0.067;0.057;0.057;0.019|.	B;B;B;B;B;B;B;B;B;B;B;B;B|.	0.33196|.	0.027;0.041;0.041;0.041;0.027;0.159;0.05;0.024;0.036;0.092;0.05;0.05;0.022|.	T|T	0.39187|0.39187	-0.9626|-0.9626	10|5	0.33141|.	T|.	0.24|.	-17.3523|-17.3523	4.8891|4.8891	0.13717|0.13717	0.1625:0.6137:0.0:0.2239|0.1625:0.6137:0.0:0.2239	.|.	333;199;238;286;277;386;342;325;381;364;381;347;420|.	Q9UKT9-9;Q9UKT9-12;Q9UKT9-11;Q9UKT9-13;Q9UKT9-10;Q9UKT9-7;Q9UKT9-6;Q9UKT9-5;Q9UKT9-4;Q9UKT9-2;Q9UKT9-3;Q9UKT9-8;Q9UKT9|.	.;.;.;.;.;.;.;.;.;.;.;.;IKZF3_HUMAN|.	D|M	420;325;286;238;277;333;199;386;381;342;381;364|335;374	ENSP00000367180:E286D;ENSP00000377741:E238D;ENSP00000367179:E277D;ENSP00000367194:E333D;ENSP00000367188:E199D;ENSP00000438972:E386D;ENSP00000345622:E381D;ENSP00000341977:E342D;ENSP00000344471:E381D;ENSP00000420463:E364D|.	ENSP00000341977:E342D|.	E|R	-|-	3|2	2|0	IKZF3|IKZF3	35175839|35175839	1.000000|1.000000	0.71417|0.71417	0.955000|0.955000	0.39395|0.39395	0.973000|0.973000	0.67179|0.67179	1.577000|1.577000	0.36515|0.36515	1.421000|1.421000	0.47157|0.47157	0.655000|0.655000	0.94253|0.94253	GAG|AGG		PASS	0.542	IKZF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257004.2	NM_012481		53	114	53	114	---	---	---	---
CDC6	990	broad.mit.edu	37	17	38449707	38449707	+	Splice_Site	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:38449707G>A	ENST00000209728.4	+	5	1131		c.e5-1			NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6						DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)	p.?(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TTTTTTTCCAGAAGGAACTGA	0.403																																						uc002huj.1																			1	Unknown(1)		lung(1)	ovary(2)|breast(1)	3						c.e5-1		cell division cycle 6 protein							58.0	59.0	59.0					17																	38449707		2203	4299	6502	SO:0001630	splice_region_variant	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38449707G>A	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.661-1G>A	17.37:g.38449707G>A							p.K221_splice	NM_001254	NP_001245	Q99741	CDC6_HUMAN			5	871	+								Q8TB30	Splice_Site	SNP	ENST00000209728.4	37	c.661_splice	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	21.6	4.171305	0.78452	.	.	ENSG00000094804	ENST00000209728	.	.	.	6.17	6.17	0.99709	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDC6	35703233	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.282000	0.58971	2.941000	0.99782	0.655000	0.94253	.		PASS	0.403	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1		Intron	17	45	17	45	---	---	---	---
CDC6	990	broad.mit.edu	37	17	38449807	38449807	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:38449807G>A	ENST00000209728.4	+	5	1231	c.760G>A	c.(760-762)Gag>Aag	p.E254K		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	254					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)	p.E254K(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						TTGTCAGGAAGAGGTATCCAG	0.453																																						uc002huj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(760-762)GAG>AAG		cell division cycle 6 protein							91.0	86.0	88.0					17																	38449807		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38449807G>A	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.760G>A	17.37:g.38449807G>A	ENSP00000209728:p.Glu254Lys						p.E254K	NM_001254	NP_001245	Q99741	CDC6_HUMAN			5	970	+			254					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.760G>A	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	8.223	0.802906	0.16397	.	.	ENSG00000094804	ENST00000209728	T	0.55234	0.53	6.17	5.03	0.67393	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.474780	0.25296	N	0.031695	T	0.18551	0.0445	N	0.00746	-1.225	0.30588	N	0.761788	B	0.02656	0.0	B	0.09377	0.004	T	0.12915	-1.0529	10	0.02654	T	1	-9.5178	11.525	0.50573	0.1483:0.0:0.8517:0.0	.	254	Q99741	CDC6_HUMAN	K	254	ENSP00000209728:E254K	ENSP00000209728:E254K	E	+	1	0	CDC6	35703333	0.610000	0.26983	0.978000	0.43139	0.990000	0.78478	1.894000	0.39768	2.941000	0.99782	0.655000	0.94253	GAG		PASS	0.453	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			36	67	36	67	---	---	---	---
CDC6	990	broad.mit.edu	37	17	38453016	38453016	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:38453016G>A	ENST00000209728.4	+	9	1717	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K		NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6	416					DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|positive regulation of chromosome segregation (GO:0051984)|positive regulation of cytokinesis (GO:0032467)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|traversing start control point of mitotic cell cycle (GO:0007089)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle midzone (GO:0051233)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|kinase binding (GO:0019900)|nucleotide binding (GO:0000166)	p.E416K(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						ACCACTGTCTGAATGTAAGTA	0.333																																						uc002huj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(1)	3						c.(1246-1248)GAA>AAA		cell division cycle 6 protein							117.0	95.0	103.0					17																	38453016		2203	4300	6503	SO:0001583	missense	990				cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity	g.chr17:38453016G>A	U77949	CCDS11365.1	17q21.3	2013-01-17	2013-01-17		ENSG00000094804	ENSG00000094804			1744	protein-coding gene	gene with protein product		602627	"""CDC6 (cell division cycle 6, S. cerevisiae) homolog"", ""CDC6 cell division cycle 6 homolog (S. cerevisiae)"", ""cell division cycle 6 homolog (S. cerevisiae)"""	CDC18L		8990175, 9566895	Standard	NM_001254		Approved		uc002huj.1	Q99741	OTTHUMG00000133324	ENST00000209728.4:c.1246G>A	17.37:g.38453016G>A	ENSP00000209728:p.Glu416Lys						p.E416K	NM_001254	NP_001245	Q99741	CDC6_HUMAN			9	1456	+			416					Q8TB30	Missense_Mutation	SNP	ENST00000209728.4	37	c.1246G>A	CCDS11365.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647725	0.67358	.	.	ENSG00000094804	ENST00000209728	T	0.40225	1.04	5.51	5.51	0.81932	.	0.289163	0.34386	N	0.004014	T	0.36908	0.0984	M	0.61703	1.905	0.49798	D	0.999826	P	0.36483	0.555	B	0.28305	0.088	T	0.32107	-0.9919	10	0.07644	T	0.81	-13.6548	18.5627	0.91107	0.0:0.0:1.0:0.0	.	416	Q99741	CDC6_HUMAN	K	416	ENSP00000209728:E416K	ENSP00000209728:E416K	E	+	1	0	CDC6	35706542	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.411000	0.52672	2.752000	0.94435	0.557000	0.71058	GAA		PASS	0.333	CDC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257129.1			29	43	29	43	---	---	---	---
KLHL11	55175	broad.mit.edu	37	17	40021343	40021343	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:40021343C>T	ENST00000319121.3	-	1	341	c.281G>A	c.(280-282)tGc>tAc	p.C94Y	ACLY_ENST00000588779.1_5'Flank	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	94	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.							p.C94Y(1)		NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GGTAATGTCGCAGAAGAGGCC	0.687																																						uc002hyf.1																			1	Substitution - Missense(1)		lung(1)		0						c.(280-282)TGC>TAC		kelch-like 11 precursor							11.0	14.0	13.0					17																	40021343		2180	4280	6460	SO:0001583	missense	55175					extracellular region		g.chr17:40021343C>T		CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.281G>A	17.37:g.40021343C>T	ENSP00000314608:p.Cys94Tyr						p.C94Y	NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN			1	287	-		Breast(137;0.00156)	94			BTB.			Missense_Mutation	SNP	ENST00000319121.3	37	c.281G>A	CCDS11411.1	.	.	.	.	.	.	.	.	.	.	c	32	5.167438	0.94768	.	.	ENSG00000178502	ENST00000319121	T	0.72051	-0.62	4.69	4.69	0.59074	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.87943	0.6305	M	0.92880	3.355	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.91116	0.4926	10	0.87932	D	0	-0.3129	17.8294	0.88676	0.0:1.0:0.0:0.0	.	94	Q9NVR0	KLH11_HUMAN	Y	94	ENSP00000314608:C94Y	ENSP00000314608:C94Y	C	-	2	0	KLHL11	37274869	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.153000	0.77428	2.437000	0.82529	0.645000	0.84053	TGC		PASS	0.687	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257464.2	NM_018143		10	20	10	20	---	---	---	---
RUNDC1	146923	broad.mit.edu	37	17	41143266	41143266	+	Missense_Mutation	SNP	T	T	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:41143266T>G	ENST00000361677.1	+	5	1387	c.1375T>G	c.(1375-1377)Ttg>Gtg	p.L459V		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	459	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.							p.L459V(1)		breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		TATTGCTTGTTTGCTGCCAGC	0.577																																						uc002ici.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1375-1377)TTG>GTG		RUN domain containing 1							60.0	55.0	57.0					17																	41143266		2203	4300	6503	SO:0001583	missense	146923							g.chr17:41143266T>G	AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1375T>G	17.37:g.41143266T>G	ENSP00000354622:p.Leu459Val					RUNDC1_uc010whi.1_Missense_Mutation_p.L229V	p.L459V	NM_173079	NP_775102	Q96C34	RUND1_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.161)	5	1387	+		Breast(137;0.00499)	459			RUN.		Q6Y2K8|Q8IXT9|Q8N3W1	Missense_Mutation	SNP	ENST00000361677.1	37	c.1375T>G	CCDS11448.1	.	.	.	.	.	.	.	.	.	.	T	16.11	3.029202	0.54790	.	.	ENSG00000198863	ENST00000361677	T	0.19806	2.12	5.13	-0.952	0.10366	RUN (2);	0.000000	0.64402	D	0.000005	T	0.38506	0.1043	M	0.72894	2.215	0.50467	D	0.999871	D	0.76494	0.999	D	0.72625	0.978	T	0.08700	-1.0709	10	0.59425	D	0.04	-13.5926	9.9152	0.41430	0.0:0.3548:0.0:0.6452	.	459	Q96C34	RUND1_HUMAN	V	459	ENSP00000354622:L459V	ENSP00000354622:L459V	L	+	1	2	RUNDC1	38396792	0.517000	0.26226	0.781000	0.31783	0.922000	0.55478	0.569000	0.23638	-0.393000	0.07739	-0.261000	0.10672	TTG		PASS	0.577	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452464.1	NM_173079		8	45	8	45	---	---	---	---
COL1A1	1277	broad.mit.edu	37	17	48266583	48266583	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:48266583G>A	ENST00000225964.5	-	40	3001	c.2883C>T	c.(2881-2883)gtC>gtT	p.V961V		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	961	Triple-helical region.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|bone trabecula formation (GO:0060346)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to amino acid stimulus (GO:0071230)|cellular response to mechanical stimulus (GO:0071260)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal system development (GO:0048706)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|leukocyte migration (GO:0050900)|negative regulation of cell-substrate adhesion (GO:0010812)|osteoblast differentiation (GO:0001649)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterotrimerization (GO:0070208)|protein localization to nucleus (GO:0034504)|protein transport (GO:0015031)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to estradiol (GO:0032355)|response to hydrogen peroxide (GO:0042542)|response to nutrient (GO:0007584)|response to peptide hormone (GO:0043434)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|tooth mineralization (GO:0034505)|visual perception (GO:0007601)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.V961V(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)	CAGGCAGGCCGACCACACCAC	0.622			T	"""PDGFB, USP6"""	"""dermatofibrosarcoma protuberans, aneurysmal bone cyst """		Osteogenesis imperfecta																															uc002iqm.2				Dom	yes		17	17q21.31-q22	1277	T	"""collagen, type I, alpha 1"""	yes	Osteogenesis imperfecta	M	PDGFB|USP6		dermatofibrosarcoma protuberans|aneurysmal bone cyst 	COL1A1/PDGFB(372)	1	Substitution - coding silent(1)		lung(1)	soft_tissue(372)|central_nervous_system(7)|skin(1)|breast(1)|pancreas(1)	382						c.(2881-2883)GTC>GTT		alpha 1 type I collagen preproprotein	Collagenase(DB00048)|Palifermin(DB00039)						39.0	42.0	41.0					17																	48266583		2203	4300	6503	SO:0001819	synonymous_variant	1277				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	g.chr17:48266583G>A	Z74615	CCDS11561.1	17q21.33	2014-09-17			ENSG00000108821	ENSG00000108821		"""Collagens"""	2197	protein-coding gene	gene with protein product		120150				3178743, 2857713	Standard	NM_000088		Approved	OI4	uc002iqm.3	P02452	OTTHUMG00000148674	ENST00000225964.5:c.2883C>T	17.37:g.48266583G>A							p.V961V	NM_000088	NP_000079	P02452	CO1A1_HUMAN			40	3009	-			961			Triple-helical region.		O76045|P78441|Q13896|Q13902|Q13903|Q14037|Q14992|Q15176|Q15201|Q16050|Q59F64|Q7KZ30|Q7KZ34|Q8IVI5|Q8N473|Q9UML6|Q9UMM7	Silent	SNP	ENST00000225964.5	37	c.2883C>T	CCDS11561.1																																																																																				PASS	0.622	COL1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309036.2			9	27	9	27	---	---	---	---
KIF2B	84643	broad.mit.edu	37	17	51901867	51901867	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:51901867C>T	ENST00000268919.4	+	1	1629	c.1473C>T	c.(1471-1473)caC>caT	p.H491H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	491	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.H491H(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAAGCCTCACACCCCATTCA	0.527																																						uc002iua.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|skin(3)	8						c.(1471-1473)CAC>CAT		kinesin family member 2B							49.0	46.0	47.0					17																	51901867		2203	4300	6503	SO:0001819	synonymous_variant	84643				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	g.chr17:51901867C>T	AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.1473C>T	17.37:g.51901867C>T						uc010wna.1_RNA	p.H491H	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN			1	1629	+			491					Q96MA2|Q9BXG6	Silent	SNP	ENST00000268919.4	37	c.1473C>T	CCDS32685.1																																																																																				PASS	0.527	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438854.1	NM_032559		28	40	28	40	---	---	---	---
TANC2	26115	broad.mit.edu	37	17	61432487	61432487	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:61432487C>T	ENST00000424789.2	+	12	2100	c.2096C>T	c.(2095-2097)tCt>tTt	p.S699F	TANC2_ENST00000389520.4_Missense_Mutation_p.S699F	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	699					in utero embryonic development (GO:0001701)			p.S699F(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCAACCCAGTCTTCCTTTGAC	0.478																																						uc002jal.3																			2	Substitution - Missense(2)		lung(2)	ovary(2)	2						c.(2095-2097)TCT>TTT		tetratricopeptide repeat, ankyrin repeat and							98.0	91.0	93.0					17																	61432487		1931	4148	6079	SO:0001583	missense	26115						binding	g.chr17:61432487C>T	AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.2096C>T	17.37:g.61432487C>T	ENSP00000387593:p.Ser699Phe					TANC2_uc010wpe.1_Missense_Mutation_p.S609F|TANC2_uc002jam.1_Missense_Mutation_p.S66F	p.S699F	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN			12	2119	+			699					Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	ENST00000424789.2	37	c.2096C>T	CCDS45754.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.467031	0.84533	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.69040	-0.37;-0.37	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.79947	0.4534	L	0.55743	1.74	0.80722	D	1	D;D;D	0.71674	0.997;0.998;0.998	D;D;D	0.72075	0.964;0.976;0.976	T	0.80600	-0.1310	10	0.87932	D	0	.	19.8677	0.96824	0.0:1.0:0.0:0.0	.	699;609;699	Q9HCD6-2;D3DU10;Q9HCD6	.;.;TANC2_HUMAN	F	699	ENSP00000374171:S699F;ENSP00000387593:S699F	ENSP00000374171:S699F	S	+	2	0	TANC2	58786219	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.786000	0.85741	2.709000	0.92574	0.655000	0.94253	TCT		PASS	0.478	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444765.1			15	96	15	96	---	---	---	---
SCN4A	6329	broad.mit.edu	37	17	62022729	62022729	+	Silent	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:62022729G>C	ENST00000435607.1	-	19	3787	c.3711C>G	c.(3709-3711)ctC>ctG	p.L1237L	SCN4A_ENST00000578147.1_Silent_p.L1237L	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1237					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.L1237L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCACCTGCAGGAGGGAGAGGT	0.617																																						uc002jds.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|pancreas(1)|skin(1)	3						c.(3709-3711)CTC>CTG		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						83.0	88.0	86.0					17																	62022729		2114	4219	6333	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62022729G>C	U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3711C>G	17.37:g.62022729G>C							p.L1237L	NM_000334	NP_000325	P35499	SCN4A_HUMAN			19	3788	-			1237			III.		Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.3711C>G	CCDS45761.1																																																																																				PASS	0.617	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334		13	47	13	47	---	---	---	---
SDK2	54549	broad.mit.edu	37	17	71394258	71394258	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:71394258C>A	ENST00000392650.3	-	24	3270	c.3270G>T	c.(3268-3270)caG>caT	p.Q1090H	SDK2_ENST00000388726.3_Missense_Mutation_p.Q1090H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1090	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Q1090H(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCTGCAGGGTCTGGATCTTTC	0.622																																						uc010dfm.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3268-3270)CAG>CAT		sidekick 2							35.0	39.0	38.0					17																	71394258		2203	4300	6503	SO:0001583	missense	54549				cell adhesion	integral to membrane		g.chr17:71394258C>A	AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.3270G>T	17.37:g.71394258C>A	ENSP00000376421:p.Gln1090His					SDK2_uc002jjt.3_Missense_Mutation_p.Q249H|SDK2_uc010dfn.2_Missense_Mutation_p.Q769H	p.Q1090H	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN			24	3270	-			1090			Extracellular (Potential).		A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	ENST00000392650.3	37	c.3270G>T	CCDS45769.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736458	0.69189	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893	T;T;T	0.54866	0.55;0.55;0.55	4.51	3.47	0.39725	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.066029	0.64402	D	0.000007	T	0.68778	0.3038	M	0.77313	2.365	0.50467	D	0.999877	D;P;P	0.56746	0.977;0.956;0.948	D;P;D	0.63793	0.912;0.871;0.918	T	0.72293	-0.4336	10	0.52906	T	0.07	.	13.0594	0.58997	0.0:0.9085:0.0:0.0915	.	1090;1090;1090	Q58EX2-2;Q58EX2;Q58EX2-3	.;SDK2_HUMAN;.	H	714;1090;1090;266;1090	ENSP00000376421:Q1090H;ENSP00000373378:Q1090H;ENSP00000407098:Q266H	ENSP00000324967:Q1090H	Q	-	3	2	SDK2	68905853	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	2.209000	0.42806	2.328000	0.79073	0.462000	0.41574	CAG		PASS	0.622	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327598.2	NM_019064		13	52	13	52	---	---	---	---
RECQL5	9400	broad.mit.edu	37	17	73658595	73658595	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:73658595G>T	ENST00000317905.5	-	4	894	c.735C>A	c.(733-735)ttC>ttA	p.F245L	RECQL5_ENST00000423245.2_Missense_Mutation_p.F218L|RECQL5_ENST00000340830.5_Missense_Mutation_p.F245L|RECQL5_ENST00000584999.1_Missense_Mutation_p.F245L|RECQL5_ENST00000420326.2_Missense_Mutation_p.F245L	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	245	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromosome separation (GO:0051304)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|mitotic nuclear division (GO:0007067)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA helicase activity (GO:0003678)|nucleic acid binding (GO:0003676)|RNA polymerase II core binding (GO:0000993)	p.F218L(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTTAAGGCAGAAGTCCTTCA	0.522								Other identified genes with known or suspected DNA repair function																														uc010dgl.2																			1	Substitution - Missense(1)		lung(1)	kidney(3)	3						c.(733-735)TTC>TTA	Other_identified_genes_with_known_or_suspected_DNA_repair_function	RecQ protein-like 5 isoform 1							232.0	239.0	236.0					17																	73658595		2203	4300	6503	SO:0001583	missense	9400				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	g.chr17:73658595G>T	AB006533	CCDS32735.1, CCDS42380.1, CCDS45777.1	17q25	2014-03-07	2014-03-07	2014-03-07	ENSG00000108469	ENSG00000108469			9950	protein-coding gene	gene with protein product	"""RecQ protein 5"""	603781				9878247	Standard	NM_004259		Approved	RecQ5, FLJ90603	uc010dgl.3	O94762		ENST00000317905.5:c.735C>A	17.37:g.73658595G>T	ENSP00000317636:p.Phe245Leu					RECQL5_uc010dgk.2_Missense_Mutation_p.F218L|RECQL5_uc002jpb.1_Missense_Mutation_p.F245L|RECQL5_uc002joz.3_Missense_Mutation_p.F245L|RECQL5_uc002jpa.3_Missense_Mutation_p.F245L	p.F245L	NM_004259	NP_004250	O94762	RECQ5_HUMAN	all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)		4	891	-	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		245			Helicase C-terminal.		Q9H0B1|Q9P1W7|Q9UNC8	Missense_Mutation	SNP	ENST00000317905.5	37	c.735C>A	CCDS42380.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328511	0.41197	.	.	ENSG00000108469	ENST00000423245;ENST00000317905;ENST00000420326;ENST00000340830	T;T;T	0.04119	3.7;3.7;3.7	5.51	5.51	0.81932	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.15349	0.0370	L	0.54965	1.715	0.80722	D	1	P;D;D	0.65815	0.589;0.995;0.957	B;D;P	0.64410	0.417;0.925;0.868	T	0.00018	-1.2370	10	0.72032	D	0.01	-8.5068	13.0467	0.58931	0.0737:0.0:0.9263:0.0	.	245;218;245	O94762;Q6P4G0;O94762-3	RECQ5_HUMAN;.;.	L	245	ENSP00000317636:F245L;ENSP00000414933:F245L;ENSP00000341983:F245L	ENSP00000317636:F245L	F	-	3	2	RECQL5	71170190	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.069000	0.57541	2.751000	0.94390	0.555000	0.69702	TTC		PASS	0.522	RECQL5-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448207.1	NM_004259		65	349	65	349	---	---	---	---
LGALS3BP	3959	broad.mit.edu	37	17	76967757	76967757	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr17:76967757C>A	ENST00000262776.3	-	6	1967	c.1659G>T	c.(1657-1659)tcG>tcT	p.S553S	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	553					cell adhesion (GO:0007155)|cellular defense response (GO:0006968)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	scavenger receptor activity (GO:0005044)	p.S553S(1)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGTGCTCTTCGAGCTGTTGG	0.612											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(89;1105 1755 18102 21513)	uc002jwh.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(3)|ovary(1)	4						c.(1657-1659)TCG>TCT		galectin 3 binding protein							65.0	60.0	61.0					17																	76967757		2203	4300	6503	SO:0001819	synonymous_variant	3959				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	g.chr17:76967757C>A	L13210	CCDS11759.1	17q25	2014-07-09				ENSG00000108679		"""BTB/POZ domain containing"", ""Endogenous ligands"""	6564	protein-coding gene	gene with protein product	"""L3 antigen"", ""Mac-2-binding protein"", ""serum protein 90K"", ""transport and golgi organization 10 homolog B (Drosophila)"""	600626				7698018, 8034587, 8390986	Standard	NM_005567		Approved	MAC-2-BP, 90K, BTBD17B, TANGO10B, M2BP, gp90, CyCAP	uc002jwh.3	Q08380		ENST00000262776.3:c.1659G>T	17.37:g.76967757C>A			OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1172	LGALS3BP_uc002jwi.2_Silent_p.S359S|LGALS3BP_uc010dhr.2_Silent_p.S359S	p.S553S	NM_005567	NP_005558	Q08380	LG3BP_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)		6	1838	-			553					Q7M4S0|Q9UCH8|Q9UCH9|Q9UCI0	Silent	SNP	ENST00000262776.3	37	c.1659G>T	CCDS11759.1																																																																																				PASS	0.612	LGALS3BP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437785.3	NM_005567		18	47	18	47	---	---	---	---
ZNF519	162655	broad.mit.edu	37	18	14105322	14105322	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr18:14105322C>A	ENST00000590202.1	-	3	1369	c.1217G>T	c.(1216-1218)tGt>tTt	p.C406F	ZNF519_ENST00000589203.1_Intron|RP11-411B10.3_ENST00000592926.1_RNA|ZNF519_ENST00000589498.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	406					negative regulation of transcription during meiosis (GO:0051038)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.C406F(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						ACATTCCTTACACTTGAAAGG	0.393																																						uc002kst.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1216-1218)TGT>TTT		zinc finger protein 519							92.0	93.0	93.0					18																	14105322		2203	4300	6503	SO:0001583	missense	162655				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:14105322C>A	BC024227	CCDS32797.1	18p11.21	2014-06-18			ENSG00000175322	ENSG00000175322		"""Zinc fingers, C2H2-type"", ""-"""	30574	protein-coding gene	gene with protein product	"""similar to Zinc finger protein 85 (Zinc finger protein HPF4) (HTF1)"""					12477932	Standard	NM_145287		Approved	HsT2362, FLJ36809	uc002kst.2	Q8TB69	OTTHUMG00000182055	ENST00000590202.1:c.1217G>T	18.37:g.14105322C>A	ENSP00000464872:p.Cys406Phe					ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	p.C406F	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN			3	1370	-			406			C2H2-type 6.			Missense_Mutation	SNP	ENST00000590202.1	37	c.1217G>T	CCDS32797.1	.	.	.	.	.	.	.	.	.	.	C	15.79	2.938543	0.52972	.	.	ENSG00000175322	ENST00000309305	.	.	.	0.646	0.646	0.17789	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.82903	0.5138	H	0.97491	4.015	0.37079	D	0.898912	D	0.89917	1.0	D	0.87578	0.998	D	0.83923	0.0302	8	0.87932	D	0	.	7.2226	0.25997	0.0:0.9999:0.0:1.0E-4	.	406	Q8TB69	ZN519_HUMAN	F	406	.	ENSP00000307908:C406F	C	-	2	0	ZNF519	14095322	0.988000	0.35896	0.071000	0.20095	0.519000	0.34347	3.719000	0.54926	0.661000	0.30985	0.089000	0.15464	TGT		PASS	0.393	ZNF519-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459037.1	NM_145287		43	117	43	117	---	---	---	---
SMAD4	4089	broad.mit.edu	37	18	48584787	48584787	+	Nonsense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr18:48584787C>T	ENST00000342988.3	+	7	1403	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q289*|SMAD4_ENST00000588745.1_Intron	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	289	SAD.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)|p.Q289*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CGGCCATCTTCAGCACCACCC	0.463																																						uc010xdp.1																			39	Whole gene deletion(36)|Unknown(2)|Substitution - Nonsense(1)	p.0?(35)|p.?(2)	pancreas(26)|stomach(3)|lung(3)|breast(3)|large_intestine(2)|upper_aerodigestive_tract(1)|oesophagus(1)	pancreas(170)|large_intestine(108)|thyroid(19)|lung(11)|small_intestine(9)|upper_aerodigestive_tract(8)|biliary_tract(8)|ovary(7)|breast(6)|stomach(5)|oesophagus(3)|testis(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|gastrointestinal_tract_(site_indeterminate)(2)|liver(2)|kidney(1)|urinary_tract(1)|vulva(1)|skin(1)|NS(1)	369						c.(865-867)CAG>TAG		mothers against decapentaplegic homolog 4							106.0	93.0	98.0					18																	48584787		2203	4300	6503	SO:0001587	stop_gained	4089	Juvenile_Polyposis|Hereditary_Hemorrhagic_Telangiectasia			BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48584787C>T	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.865C>T	18.37:g.48584787C>T	ENSP00000341551:p.Gln289*					SMAD4_uc002lfb.3_Nonsense_Mutation_p.Q134*	p.Q289*	NM_005359	NP_005350	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	7	1403	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	289			SAD.		A8K405	Nonsense_Mutation	SNP	ENST00000342988.3	37	c.865C>T	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	41	8.836430	0.98972	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.19147	T	0.46	.	19.6509	0.95805	0.0:1.0:0.0:0.0	.	.	.	.	X	289	.	ENSP00000341551:Q289X	Q	+	1	0	SMAD4	46838785	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.603000	0.82811	2.941000	0.99782	0.655000	0.94253	CAG		PASS	0.463	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		28	43	28	43	---	---	---	---
WDR7	23335	broad.mit.edu	37	18	54423878	54423878	+	Missense_Mutation	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr18:54423878A>T	ENST00000254442.3	+	15	2265	c.2054A>T	c.(2053-2055)gAc>gTc	p.D685V	WDR7_ENST00000357574.3_Missense_Mutation_p.D685V|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	685					hematopoietic progenitor cell differentiation (GO:0002244)			p.D685V(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AACCTAACAGACCCGGACATA	0.358																																						uc002lgk.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|skin(1)	3						c.(2053-2055)GAC>GTC		rabconnectin-3 beta isoform 1							69.0	69.0	69.0					18																	54423878		2203	4300	6503	SO:0001583	missense	23335							g.chr18:54423878A>T	AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.2054A>T	18.37:g.54423878A>T	ENSP00000254442:p.Asp685Val					WDR7_uc010dpk.1_RNA|WDR7_uc002lgl.1_Missense_Mutation_p.D685V	p.D685V	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN		Lung(128;0.0238)|Colorectal(16;0.0296)	15	2265	+			685					A7E2C8|Q86UX5|Q86VP2|Q96PS7	Missense_Mutation	SNP	ENST00000254442.3	37	c.2054A>T	CCDS11962.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.195975	0.78902	.	.	ENSG00000091157	ENST00000254442;ENST00000357574;ENST00000398311	T;T	0.71934	-0.61;-0.58	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.75309	0.3832	L	0.27053	0.805	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.80764	0.966;0.994	T	0.73760	-0.3881	10	0.30854	T	0.27	.	16.0892	0.81080	1.0:0.0:0.0:0.0	.	685;685	Q9Y4E6-2;Q9Y4E6	.;WDR7_HUMAN	V	685	ENSP00000254442:D685V;ENSP00000350187:D685V	ENSP00000254442:D685V	D	+	2	0	WDR7	52574876	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.118000	0.94355	2.279000	0.76181	0.533000	0.62120	GAC		PASS	0.358	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256062.1			41	43	41	43	---	---	---	---
KIAA1468	57614	broad.mit.edu	37	18	59925844	59925844	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr18:59925844G>C	ENST00000398130.2	+	15	2369	c.2137G>C	c.(2137-2139)Gaa>Caa	p.E713Q	KIAA1468_ENST00000256858.6_Missense_Mutation_p.E713Q	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	713								p.E713Q(1)		autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				GTGGACTACAGAACTTGGAAA	0.373																																						uc002lil.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)	6						c.(2137-2139)GAA>CAA		hypothetical protein LOC57614							93.0	90.0	91.0					18																	59925844		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59925844G>C	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.2137G>C	18.37:g.59925844G>C	ENSP00000381198:p.Glu713Gln					KIAA1468_uc002lik.1_Missense_Mutation_p.E713Q|KIAA1468_uc010xel.1_Missense_Mutation_p.E713Q|KIAA1468_uc002lim.2_Missense_Mutation_p.E357Q	p.E713Q	NM_020854	NP_065905	Q9P260	K1468_HUMAN			15	2352	+		Colorectal(73;0.186)	713						Missense_Mutation	SNP	ENST00000398130.2	37	c.2137G>C	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	G	19.89	3.911148	0.72983	.	.	ENSG00000134444	ENST00000398130;ENST00000256858	.	.	.	5.81	5.81	0.92471	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.74168	0.3681	L	0.45581	1.43	0.80722	D	1	P;D;D	0.76494	0.754;0.999;0.999	P;D;D	0.67382	0.555;0.945;0.951	T	0.70088	-0.4968	8	.	.	.	-18.6261	20.089	0.97809	0.0:0.0:1.0:0.0	.	713;713;357	Q9P260-2;Q9P260;B2RD46	.;K1468_HUMAN;.	Q	713	.	.	E	+	1	0	KIAA1468	58076824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.048000	0.93830	2.752000	0.94435	0.557000	0.71058	GAA		PASS	0.373	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		34	37	34	37	---	---	---	---
TMPRSS9	360200	broad.mit.edu	37	19	2413846	2413846	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:2413846C>T	ENST00000332578.3	+	9	1301	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	434	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				plasminogen activation (GO:0031639)	integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.A434V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ATCCTGGAGGCCACCACCAAA	0.672																																						uc010xgx.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(1300-1302)GCC>GTC		transmembrane protease, serine 9							39.0	40.0	40.0					19																	2413846		2203	4300	6503	SO:0001583	missense	360200				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr19:2413846C>T	AJ488946	CCDS12088.1	19p13.3	2010-04-13						"""Serine peptidases / Transmembrane"""	30079	protein-coding gene	gene with protein product	"""polyserase 1"""	610477				12886014	Standard	NM_182973		Approved		uc010xgx.2	Q7Z410		ENST00000332578.3:c.1301C>T	19.37:g.2413846C>T	ENSP00000330264:p.Ala434Val					TMPRSS9_uc002lvv.1_Missense_Mutation_p.A468V	p.A434V	NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	9	1301	+			434			Extracellular (Potential).|Peptidase S1 1.		Q6ZND6|Q7Z411	Missense_Mutation	SNP	ENST00000332578.3	37	c.1301C>T	CCDS12088.1	.	.	.	.	.	.	.	.	.	.	C	0.388	-0.924825	0.02377	.	.	ENSG00000178297	ENST00000395264;ENST00000332578	T	0.56776	0.44	4.04	1.79	0.24919	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (1);	0.641843	0.13363	N	0.393475	T	0.18045	0.0433	N	0.00801	-1.175	0.09310	N	1	B;B	0.18461	0.01;0.028	B;B	0.22880	0.008;0.042	T	0.30031	-0.9992	10	0.11485	T	0.65	.	5.7752	0.18275	0.0:0.5658:0.0:0.4342	.	434;468	Q7Z410;E7EMP4	TMPS9_HUMAN;.	V	468;434	ENSP00000330264:A434V	ENSP00000330264:A434V	A	+	2	0	TMPRSS9	2364846	0.071000	0.21146	0.002000	0.10522	0.114000	0.19823	0.417000	0.21214	0.105000	0.17753	0.555000	0.69702	GCC		PASS	0.672	TMPRSS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451330.3	NM_182973		11	12	11	12	---	---	---	---
PNPLA6	10908	broad.mit.edu	37	19	7620514	7620514	+	Silent	SNP	A	A	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:7620514A>G	ENST00000221249.6	+	27	3275	c.2844A>G	c.(2842-2844)gtA>gtG	p.V948V	PNPLA6_ENST00000545201.2_Silent_p.V921V|PNPLA6_ENST00000450331.3_Silent_p.V948V|PNPLA6_ENST00000414982.3_Silent_p.V996V|PNPLA6_ENST00000600737.1_Silent_p.V986V	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	987					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)	p.V948V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						ACATCGGAGTACTAAAGGCAT	0.667																																						uc010xjq.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2986-2988)GTA>GTG		neuropathy target esterase isoform b							28.0	27.0	27.0					19																	7620514		2203	4300	6503	SO:0001819	synonymous_variant	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7620514A>G	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2844A>G	19.37:g.7620514A>G						PNPLA6_uc002mgq.1_Silent_p.V948V|PNPLA6_uc010xjp.1_Silent_p.V921V|PNPLA6_uc002mgr.1_Silent_p.V948V|PNPLA6_uc002mgs.2_Silent_p.V986V|PNPLA6_uc002mgt.1_RNA	p.V996V	NM_006702	NP_006693	Q8IY17	PLPL6_HUMAN			26	3183	+			987			Patatin.|Cytoplasmic (Potential).		A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Silent	SNP	ENST00000221249.6	37	c.2988A>G	CCDS32891.1																																																																																				PASS	0.667	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		11	26	11	26	---	---	---	---
FBN3	84467	broad.mit.edu	37	19	8186173	8186173	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:8186173C>G	ENST00000600128.1	-	25	3594	c.3180G>C	c.(3178-3180)gaG>gaC	p.E1060D	FBN3_ENST00000601739.1_Missense_Mutation_p.E1060D|FBN3_ENST00000270509.2_Missense_Mutation_p.E1060D			Q75N90	FBN3_HUMAN	fibrillin 3	1060	EGF-like 13; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E1060D(1)		NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						TGAAGCCACTCTCGTAGCCGG	0.627																																						uc002mjf.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1)	11						c.(3178-3180)GAG>GAC		fibrillin 3 precursor							62.0	60.0	61.0					19																	8186173		2203	4300	6503	SO:0001583	missense	84467					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr19:8186173C>G		CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3180G>C	19.37:g.8186173C>G	ENSP00000470498:p.Glu1060Asp						p.E1060D	NM_032447	NP_115823	Q75N90	FBN3_HUMAN			24	3201	-			1060			EGF-like 13; calcium-binding.		Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	c.3180G>C	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	C	8.514	0.867254	0.17250	.	.	ENSG00000142449	ENST00000270509	D	0.92805	-3.11	3.91	0.338	0.15974	EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.137694	0.47852	U	0.000217	D	0.86497	0.5947	L	0.45228	1.405	0.39413	D	0.966783	P	0.38711	0.643	B	0.40506	0.331	T	0.80106	-0.1521	10	0.62326	D	0.03	.	4.9846	0.14183	0.0:0.5695:0.1673:0.2632	.	1060	Q75N90	FBN3_HUMAN	D	1060	ENSP00000270509:E1060D	ENSP00000270509:E1060D	E	-	3	2	FBN3	8092173	0.927000	0.31430	0.001000	0.08648	0.011000	0.07611	0.092000	0.15066	-0.037000	0.13646	-0.819000	0.03115	GAG		PASS	0.627	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		21	32	21	32	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8976368	8976368	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:8976368C>A	ENST00000397910.4	-	75	42663	c.42460G>T	c.(42460-42462)Ggc>Tgc	p.G14154C	MUC16_ENST00000596956.1_Intron|MUC16_ENST00000380951.5_Missense_Mutation_p.G795C	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14185	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.G14154C(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGCCCGGGGCCCACAGGGTCA	0.597																																						uc002mkp.2																			2	Substitution - Missense(2)		prostate(1)|lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(42460-42462)GGC>TGC		mucin 16							35.0	35.0	35.0					19																	8976368		1984	4166	6150	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8976368C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42460G>T	19.37:g.8976368C>A	ENSP00000381008:p.Gly14154Cys					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.G954C|MUC16_uc010xki.1_Intron	p.G14154C	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			75	42664	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.42460G>T	CCDS54212.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	13.13|13.13	2.146313|2.146313	0.37923|0.37923	.|.	.|.	ENSG00000181143|ENSG00000181143	ENST00000397910;ENST00000380951|ENST00000542240	T;T|.	0.49139|.	0.79;0.79|.	4.07|4.07	-2.23|-2.23	0.06930|0.06930	SEA (1);|.	1.471060|.	0.04491|.	N|.	0.379457|.	T|T	0.45955|0.45955	0.1368|0.1368	M|M	0.66939|0.66939	2.045|2.045	.|.	.|.	.|.	D;D|.	0.89917|.	0.999;1.0|.	P;D|.	0.91635|.	0.905;0.999|.	T|T	0.52465|0.52465	-0.8572|-0.8572	8|4	.|.	.|.	.|.	.|.	4.2972|4.2972	0.10908|0.10908	0.0:0.3468:0.3439:0.3092|0.0:0.3468:0.3439:0.3092	.|.	21799;14154|.	Q8WXI7;B5ME49|.	MUC16_HUMAN;.|.	C|C	14154;795|976	ENSP00000381008:G14154C;ENSP00000370338:G795C|.	.|.	G|W	-|-	1|3	0|0	MUC16|MUC16	8837368|8837368	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-1.115000|-1.115000	0.03289|0.03289	-0.117000|-0.117000	0.11872|0.11872	-0.223000|-0.223000	0.12442|0.12442	GGC|TGG		PASS	0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	17	10	17	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	8976594	8976594	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:8976594G>A	ENST00000397910.4	-	74	42585	c.42382C>T	c.(42382-42384)Ctg>Ttg	p.L14128L	MUC16_ENST00000596956.1_5'UTR|MUC16_ENST00000380951.5_Silent_p.L769L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14159	SEA 14. {ECO:0000255|PROSITE- ProRule:PRU00188}.			Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.L14128L(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGGAGATCAGTTGGCAACCC	0.567																																						uc002mkp.2																			1	Substitution - coding silent(1)		lung(1)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(42382-42384)CTG>TTG		mucin 16							67.0	69.0	68.0					19																	8976594		1928	4150	6078	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:8976594G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.42382C>T	19.37:g.8976594G>A						MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Silent_p.L928L|MUC16_uc010xki.1_Intron	p.L14128L	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			74	42586	-			14159	Missing (in Ref. 3; AAK74120).		SEA 14.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.42382C>T	CCDS54212.1																																																																																				PASS	0.567	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		8	14	8	14	---	---	---	---
MUC16	94025	broad.mit.edu	37	19	9067184	9067184	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:9067184G>T	ENST00000397910.4	-	3	20465	c.20262C>A	c.(20260-20262)gaC>gaA	p.D6754E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6756	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D6754E(2)|p.D2387E(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGTTGGTGTGTCCAAGGTAA	0.483																																						uc002mkp.2																			3	Substitution - Missense(3)		lung(3)	lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(20260-20262)GAC>GAA		mucin 16							281.0	275.0	277.0					19																	9067184		2197	4293	6490	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9067184G>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.20262C>A	19.37:g.9067184G>T	ENSP00000381008:p.Asp6754Glu						p.D6754E	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			3	20466	-			6756			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.20262C>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.449	0.450946	0.12223	.	.	ENSG00000181143	ENST00000397910	T	0.21932	1.98	2.52	-1.33	0.09172	.	.	.	.	.	T	0.09468	0.0233	N	0.14661	0.345	.	.	.	B	0.27166	0.17	B	0.21151	0.033	T	0.27088	-1.0084	8	0.87932	D	0	.	2.2517	0.04045	0.3088:0.0:0.4475:0.2437	.	6754	B5ME49	.	E	6754	ENSP00000381008:D6754E	ENSP00000381008:D6754E	D	-	3	2	MUC16	8928184	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.966000	0.03825	-0.179000	0.10654	0.386000	0.25728	GAC		PASS	0.483	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		102	119	102	119	---	---	---	---
OR1M1	125963	broad.mit.edu	37	19	9203994	9203994	+	Missense_Mutation	SNP	C	C	A	rs61738474	byFrequency	TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:9203994C>A	ENST00000429566.3	+	1	140	c.74C>A	c.(73-75)aCg>aAg	p.T25K		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T25K(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GAGCAGGAGACGCTTCTCTTT	0.522																																						uc010xkj.1																			1	Substitution - Missense(1)		lung(1)	skin(3)	3						c.(73-75)ACG>AAG		olfactory receptor, family 1, subfamily M,							116.0	98.0	104.0					19																	9203994		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9203994C>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.74C>A	19.37:g.9203994C>A	ENSP00000401966:p.Thr25Lys						p.T25K	NM_001004456	NP_001004456	Q8NGA1	OR1M1_HUMAN			1	74	+			25			Extracellular (Potential).		B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.74C>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	c	0.085	-1.176805	0.01646	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.00438	7.42	3.49	2.44	0.29823	.	2.059810	0.02106	N	0.054364	T	0.00241	0.0007	N	0.10707	0.03	0.09310	N	1	B	0.32160	0.358	B	0.26693	0.072	T	0.32877	-0.9890	10	0.52906	T	0.07	.	5.4607	0.16615	0.0:0.6579:0.0:0.3421	.	25	Q8NGA1	OR1M1_HUMAN	K	28;25	ENSP00000401966:T25K	ENSP00000303195:T28K	T	+	2	0	OR1M1	9064994	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-4.203000	0.00275	0.801000	0.34066	0.400000	0.26472	ACG		PASS	0.522	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			33	28	33	28	---	---	---	---
SMARCA4	6597	broad.mit.edu	37	19	11130342	11130342	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:11130342G>A	ENST00000429416.3	+	19	2862	c.2581G>A	c.(2581-2583)Gag>Aag	p.E861K	SMARCA4_ENST00000444061.3_Missense_Mutation_p.E861K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E861K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E861K|SMARCA4_ENST00000358026.2_Missense_Mutation_p.E861K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E861K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E861K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E861K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E861K	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	861	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.E861K(2)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACGACGTACGAGTACATCAT	0.597			"""F, N, Mis"""		NSCLC																																	uc002mqf.3				Rec	yes		19	19p13.2	6597	F|N|Mis	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""			E			NSCLC		3	Substitution - Missense(2)|Unknown(1)	p.?(1)	lung(3)	lung(29)|ovary(8)|pancreas(7)|large_intestine(5)|central_nervous_system(5)|skin(3)|prostate(3)|breast(2)|adrenal_gland(1)|stomach(1)|liver(1)|autonomic_ganglia(1)|kidney(1)	67						c.(2581-2583)GAG>AAG		SWI/SNF-related matrix-associated							135.0	105.0	115.0					19																	11130342		2203	4300	6503	SO:0001583	missense	6597	Rhabdoid_Predisposition_syndrome			chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	g.chr19:11130342G>A	D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2581G>A	19.37:g.11130342G>A	ENSP00000395654:p.Glu861Lys					SMARCA4_uc010dxp.2_Missense_Mutation_p.E861K|SMARCA4_uc010dxo.2_Missense_Mutation_p.E861K|SMARCA4_uc002mqg.1_Missense_Mutation_p.E861K|SMARCA4_uc010dxq.2_Missense_Mutation_p.E861K|SMARCA4_uc010dxr.2_Missense_Mutation_p.E861K|SMARCA4_uc002mqj.3_Missense_Mutation_p.E861K|SMARCA4_uc010dxs.2_Missense_Mutation_p.E861K|SMARCA4_uc010dxt.1_Missense_Mutation_p.E81K|SMARCA4_uc002mqh.3_5'UTR|SMARCA4_uc002mqi.1_5'Flank	p.E861K	NM_003072	NP_003063	P51532	SMCA4_HUMAN			18	2865	+		all_lung(6;0.0512)|Lung NSC(9;0.0568)	861			Helicase ATP-binding.		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	ENST00000429416.3	37	c.2581G>A	CCDS12253.1	.	.	.	.	.	.	.	.	.	.	G	19.23	3.786994	0.70337	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4;-3.4;-3.4;-3.4	4.01	4.01	0.46588	DEAD-like helicase (2);SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.96947	0.9003	M	0.89163	3.01	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.995;0.995;0.995;0.995;0.999;0.995;0.995	D	0.97805	1.0247	10	0.87932	D	0	-38.3294	15.0486	0.71846	0.0:0.0:1.0:0.0	.	861;861;861;861;861;861;861	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	K	861;861;925;861;861;861;861;861	ENSP00000395654:E861K;ENSP00000350720:E861K;ENSP00000343896:E861K;ENSP00000445036:E861K;ENSP00000392837:E861K;ENSP00000397783:E861K;ENSP00000414727:E861K	ENSP00000343896:E861K	E	+	1	0	SMARCA4	10991342	1.000000	0.71417	0.914000	0.36105	0.091000	0.18340	9.539000	0.98076	2.075000	0.62263	0.655000	0.94253	GAG		PASS	0.597	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452638.2	NM_003072		5	23	5	23	---	---	---	---
CD97	976	broad.mit.edu	37	19	14518791	14518791	+	Silent	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:14518791C>A	ENST00000242786.5	+	19	2528	c.2448C>A	c.(2446-2448)acC>acA	p.T816T	CD97_ENST00000358600.3_Silent_p.T723T|DDX39A_ENST00000592927.1_5'Flank|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Silent_p.T767T	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	816					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.T816T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCACCTCCACCACGTCTGGCA	0.657																																						uc002myl.2																			1	Substitution - coding silent(1)		lung(1)	ovary(3)|breast(1)	4						c.(2446-2448)ACC>ACA		CD97 antigen isoform 1 precursor							43.0	40.0	41.0					19																	14518791		2203	4300	6503	SO:0001819	synonymous_variant	976				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr19:14518791C>A		CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2448C>A	19.37:g.14518791C>A						CD97_uc002mym.2_Silent_p.T767T|CD97_uc002myn.2_Silent_p.T723T	p.T816T	NM_078481	NP_510966	P48960	CD97_HUMAN			19	2571	+			816			Cytoplasmic (Potential).		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	ENST00000242786.5	37	c.2448C>A	CCDS32929.1																																																																																				PASS	0.657	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459821.2	NM_078481		7	21	7	21	---	---	---	---
PIK3R2	5296	broad.mit.edu	37	19	18271322	18271322	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:18271322G>T	ENST00000593731.1	+	3	924	c.364G>T	c.(364-366)Gat>Tat	p.D122Y	PIK3R2_ENST00000222254.8_Missense_Mutation_p.D122Y			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	122	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)	p.D122Y(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	CTCCCCACCTGATGTGGCTCC	0.607																																						uc002nia.1																			1	Substitution - Missense(1)		lung(1)	lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						c.(364-366)GAT>TAT		phosphoinositide-3-kinase, regulatory subunit 2							94.0	77.0	83.0					19																	18271322		2203	4300	6503	SO:0001583	missense	5296				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding	g.chr19:18271322G>T		CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.364G>T	19.37:g.18271322G>T	ENSP00000471914:p.Asp122Tyr					PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	p.D122Y	NM_005027	NP_005018	O00459	P85B_HUMAN			3	876	+			122			Rho-GAP.		Q5EAT5|Q9UPH9	Missense_Mutation	SNP	ENST00000593731.1	37	c.364G>T	CCDS12371.1	.	.	.	.	.	.	.	.	.	.	G	12.51	1.959409	0.34565	.	.	ENSG00000105647	ENST00000222254	T	0.43294	0.95	4.45	3.4	0.38934	Rho GTPase-activating protein domain (2);Rho GTPase activation protein (1);	0.163360	0.53938	D	0.000060	T	0.40272	0.1110	L	0.49126	1.545	0.42771	D	0.993831	D	0.56521	0.976	P	0.45794	0.493	T	0.46871	-0.9160	10	0.87932	D	0	-25.1471	11.2378	0.48951	0.0896:0.0:0.9104:0.0	.	122	O00459	P85B_HUMAN	Y	122	ENSP00000222254:D122Y	ENSP00000222254:D122Y	D	+	1	0	PIK3R2	18132322	1.000000	0.71417	0.044000	0.18714	0.064000	0.16182	5.873000	0.69644	2.203000	0.70933	0.561000	0.74099	GAT		PASS	0.607	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000466386.2	NM_005027		4	26	4	26	---	---	---	---
DPF1	8193	broad.mit.edu	37	19	38713015	38713015	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:38713015G>T	ENST00000420980.2	-	3	387	c.361C>A	c.(361-363)Ccc>Acc	p.P121T	DPF1_ENST00000412732.1_Missense_Mutation_p.P39T|DPF1_ENST00000355526.4_Missense_Mutation_p.P121T|DPF1_ENST00000456296.1_Missense_Mutation_p.P95T|DPF1_ENST00000416611.1_Missense_Mutation_p.P95T|DPF1_ENST00000414789.1_Missense_Mutation_p.P39T	NM_004647.2	NP_004638.2	Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	121					apoptotic process (GO:0006915)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)	zinc ion binding (GO:0008270)	p.P94T(1)|p.P121T(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TACTCGCAGGGCCTGAGTCTG	0.612																																						uc002ohl.2																			2	Substitution - Missense(2)		lung(2)		0						c.(361-363)CCC>ACC		D4, zinc and double PHD fingers family 1 isoform							132.0	129.0	130.0					19																	38713015		2203	4300	6503	SO:0001583	missense	8193				induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding	g.chr19:38713015G>T	U43843	CCDS33008.2, CCDS46064.1, CCDS46065.1	19q13.12	2013-01-28			ENSG00000011332	ENSG00000011332		"""Zinc fingers, PHD-type"""	20225	protein-coding gene	gene with protein product		601670				8812431	Standard	XM_005259288		Approved	neuro-d4, NEUD4, BAF45b	uc002ohm.3	Q92782	OTTHUMG00000157164	ENST00000420980.2:c.361C>A	19.37:g.38713015G>T	ENSP00000397354:p.Pro121Thr					DPF1_uc002ohm.2_Missense_Mutation_p.P121T|DPF1_uc002ohn.2_Missense_Mutation_p.P39T|DPF1_uc010xtu.1_Missense_Mutation_p.P95T|DPF1_uc010xtv.1_Missense_Mutation_p.P95T|DPF1_uc010xtw.1_Missense_Mutation_p.P95T	p.P121T	NM_004647	NP_004638	Q92782	DPF1_HUMAN	Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)		3	388	-	all_cancers(60;1.24e-06)		121					B3KSY8|Q08AJ0	Missense_Mutation	SNP	ENST00000420980.2	37	c.361C>A	CCDS33008.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.854|6.854	0.526809|0.526809	0.13066|0.13066	.|.	.|.	ENSG00000011332|ENSG00000011332	ENST00000355526|ENST00000420980;ENST00000437720;ENST00000412732;ENST00000416611;ENST00000414789;ENST00000456296;ENST00000438060;ENST00000434076;ENST00000438365	.|D;D;D;D;D;T	.|0.89123	.|-2.04;-2.46;-2.01;-2.46;-2.47;2.56	3.44|3.44	3.44|3.44	0.39384|0.39384	.|.	.|0.000000	.|0.64402	.|D	.|0.000009	D|D	0.91801|0.91801	0.7406|0.7406	L|L	0.51422|0.51422	1.61|1.61	0.34327|0.34327	D|D	0.687257|0.687257	.|B;D;P;P;D;P	.|0.89917	.|0.002;1.0;0.895;0.885;0.968;0.61	.|B;D;B;B;P;B	.|0.79108	.|0.001;0.992;0.434;0.368;0.669;0.165	D|D	0.93961|0.93961	0.7240|0.7240	5|10	.|0.46703	.|T	.|0.11	-14.363|-14.363	14.1848|14.1848	0.65598|0.65598	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|95;95;94;121;121;121	.|B4DMQ8;E9PDV3;C8C3P2;Q6PJ73;Q92782-2;Q92782	.|.;.;.;.;.;DPF1_HUMAN	D|T	113|121;121;39;95;39;95;39;95;39	.|ENSP00000397354:P121T;ENSP00000412098:P39T;ENSP00000390223:P95T;ENSP00000391884:P39T;ENSP00000411569:P95T;ENSP00000416347:P39T	.|ENSP00000412098:P39T	A|P	-|-	2|1	0|0	DPF1|DPF1	43404855|43404855	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.979000|3.979000	0.56888|0.56888	1.941000|1.941000	0.56285|0.56285	0.455000|0.455000	0.32223|0.32223	GCC|CCC		PASS	0.612	DPF1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347721.1			113	86	113	86	---	---	---	---
LGALS4	3960	broad.mit.edu	37	19	39299479	39299479	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:39299479C>T	ENST00000307751.4	-	3	721	c.244G>A	c.(244-246)Ggg>Agg	p.G82R	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	82	Galectin 1. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.G82R(1)		NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CCCCACTTCCCGCCCTGCAAC	0.582																																						uc002ojg.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(244-246)GGG>AGG		galectin-4							163.0	127.0	139.0					19																	39299479		2203	4300	6503	SO:0001583	missense	3960				cell adhesion	cytosol|plasma membrane	sugar binding	g.chr19:39299479C>T		CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.244G>A	19.37:g.39299479C>T	ENSP00000302100:p.Gly82Arg					LGALS4_uc010xuj.1_Missense_Mutation_p.G82R	p.G82R	NM_006149	NP_006140	P56470	LEG4_HUMAN	Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)		3	458	-	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		82			Galectin 1.			Missense_Mutation	SNP	ENST00000307751.4	37	c.244G>A	CCDS12521.1	.	.	.	.	.	.	.	.	.	.	C	36	5.809873	0.96975	.	.	ENSG00000171747	ENST00000307751	T	0.16743	2.32	5.32	5.32	0.75619	Concanavalin A-like lectin/glucanase (1);Galectin, carbohydrate recognition domain (4);Concanavalin A-like lectin/glucanase, subgroup (1);	0.116921	0.56097	D	0.000027	T	0.50820	0.1638	M	0.90650	3.135	0.53005	D	0.999962	D;D	0.89917	1.0;0.998	D;P	0.78314	0.991;0.848	T	0.59348	-0.7471	10	0.54805	T	0.06	-16.1745	17.7684	0.88485	0.0:1.0:0.0:0.0	.	82;82	B4DKK5;P56470	.;LEG4_HUMAN	R	82	ENSP00000302100:G82R	ENSP00000302100:G82R	G	-	1	0	LGALS4	43991319	0.113000	0.22115	0.039000	0.18376	0.581000	0.36288	3.530000	0.53539	2.489000	0.83994	0.549000	0.68633	GGG		PASS	0.582	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462641.1	NM_006149		17	100	17	100	---	---	---	---
CNTD2	79935	broad.mit.edu	37	19	40730462	40730462	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:40730462C>A	ENST00000430325.2	-	3	494	c.446G>T	c.(445-447)cGc>cTc	p.R149L	CNTD2_ENST00000433940.1_Missense_Mutation_p.R119L|CNTD2_ENST00000513948.1_Missense_Mutation_p.R43L	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	149	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)			p.R119L(1)|p.R149L(1)		lung(1)|prostate(1)	2						CAGCTGCAGGCGATGTAGACG	0.612																																						uc010xvi.1																			2	Substitution - Missense(2)		lung(2)		0						c.(445-447)CGC>CTC		cyclin N-terminal domain containing 2 isoform 2							141.0	144.0	143.0					19																	40730462		2203	4300	6503	SO:0001583	missense	79935				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr19:40730462C>A	AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"""cyclin P"""					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.446G>T	19.37:g.40730462C>A	ENSP00000396755:p.Arg149Leu					CNTD2_uc002ond.2_RNA	p.R149L	NM_024877	NP_079153	Q9H8S5	CNTD2_HUMAN			3	495	-			149					B4DX65	Missense_Mutation	SNP	ENST00000430325.2	37	c.446G>T	CCDS12551.2	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281681	0.23392	.	.	ENSG00000105219	ENST00000430325;ENST00000513948;ENST00000433940	T;T;T	0.11821	2.74;2.74;2.74	4.61	1.31	0.21738	.	0.318910	0.29964	N	0.010744	T	0.09158	0.0226	N	0.20304	0.555	0.23681	N	0.997128	P	0.38048	0.616	B	0.39971	0.315	T	0.17379	-1.0371	10	0.87932	D	0	-25.0404	7.5158	0.27600	0.0:0.7191:0.0:0.2809	.	149	B4DX65	.	L	149;43;119	ENSP00000396755:R149L;ENSP00000425529:R43L;ENSP00000408707:R119L	ENSP00000221818:R119L	R	-	2	0	CNTD2	45422302	0.743000	0.28239	0.725000	0.30721	0.090000	0.18270	0.062000	0.14389	0.191000	0.20236	-0.258000	0.10820	CGC		PASS	0.612	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	NM_024877		141	72	141	72	---	---	---	---
PSG7	5676	broad.mit.edu	37	19	43430769	43430769	+	RNA	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:43430769G>T	ENST00000406070.2	-	0	905				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy (GO:0007565)	extracellular region (GO:0005576)							Prostate(69;0.00682)				CCAAATGTAGGTGTAGTTCTC	0.488																																						uc002ovl.3																			0					0						c.(808-810)ACC>AAC		pregnancy specific beta-1-glycoprotein 7							240.0	232.0	234.0					19																	43430769		2202	4300	6502			5676				female pregnancy	extracellular region		g.chr19:43430769G>T			19q13.2	2013-01-29	2010-02-26		ENSG00000221878	ENSG00000221878		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9524	protein-coding gene	gene with protein product		176396	"""pregnancy specific beta-1-glycoprotein 7"""				Standard	NM_002783		Approved		uc010xwl.2	Q13046	OTTHUMG00000151125		19.37:g.43430769G>T						PSG3_uc002ouf.2_Intron|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_RNA|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG6_uc002ovh.1_Intron|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG11_uc002ovk.1_Intron|PSG7_uc010xwl.1_Missense_Mutation_p.T148N	p.T270N	NM_002783	NP_002774	Q13046	PSG7_HUMAN			5	911	-		Prostate(69;0.00682)	270			Ig-like C2-type 2.		Q15232	Missense_Mutation	SNP	ENST00000406070.2	37	c.809C>A																																																																																					PASS	0.488	PSG7-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000321431.2	NM_001206650		342	201	342	201	---	---	---	---
CD177	57126	broad.mit.edu	37	19	43859925	43859925	+	RNA	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:43859925G>T	ENST00000607517.1	+	0	548				CD177_ENST00000378009.4_RNA|CD177_ENST00000378012.2_RNA			Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)		p.R164S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				GCCTCCTCAGGCTCAGGGGAG	0.582																																						uc002owi.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(490-492)AGG>AGT		CD177 molecule precursor							56.0	56.0	56.0					19																	43859925		1907	4117	6024			57126				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane		g.chr19:43859925G>T	AF146747	CCDS62700.1	19q13.31	2013-10-02	2006-03-28		ENSG00000204936	ENSG00000204936		"""CD molecules"""	30072	protein-coding gene	gene with protein product	"""polycythemia rubra vera 1"""	162860	"""CD177 antigen"""			10753836, 5552408	Standard	NM_020406		Approved	PRV1, HNA2A, NB1	uc002owi.3	Q8N6Q3	OTTHUMG00000185320		19.37:g.43859925G>T						CD177_uc010eis.2_RNA|CD177_uc002owj.2_RNA	p.R164S	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN			4	534	+		Prostate(69;0.00682)	164			UPAR/Ly6 1.		Q711Q2|Q8NCV9|Q96QH1|Q9HDA5	Missense_Mutation	SNP	ENST00000607517.1	37	c.492G>T		.	.	.	.	.	.	.	.	.	.	g	7.339	0.620426	0.14193	.	.	ENSG00000204936	ENST00000378009	T	0.69306	-0.39	3.46	-0.274	0.12910	CD59 antigen (1);	.	.	.	.	T	0.39064	0.1064	N	0.11560	0.145	0.09310	N	1	B	0.28400	0.21	B	0.31869	0.137	T	0.33189	-0.9878	9	0.06236	T	0.91	.	5.8349	0.18601	0.0:0.1912:0.4166:0.3922	.	164	Q8N6Q3	CD177_HUMAN	S	164	ENSP00000367248:R164S	ENSP00000367248:R164S	R	+	3	2	CD177	48551765	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.205000	0.09411	0.072000	0.16694	-0.444000	0.05651	AGG		PASS	0.582	CD177-001	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000470162.1	NM_020406		30	119	30	119	---	---	---	---
TEX101	83639	broad.mit.edu	37	19	43922079	43922079	+	Silent	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:43922079G>T	ENST00000598265.1	+	5	607	c.441G>T	c.(439-441)ggG>ggT	p.G147G	TEX101_ENST00000602198.1_Silent_p.G165G|TEX101_ENST00000601707.1_3'UTR|TEX101_ENST00000253435.7_Silent_p.G165G	NM_001130011.1	NP_001123483.1	Q9BY14	TX101_HUMAN	testis expressed 101	147	UPAR/Ly6.					acrosomal membrane (GO:0002080)|anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G165G(1)		large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				TGGCTTTGGGGACCTGTTTCA	0.493																																						uc010xwo.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(439-441)GGG>GGT		testis expressed 101 isoform 2							327.0	268.0	288.0					19																	43922079		2203	4300	6503	SO:0001819	synonymous_variant	83639					anchored to membrane|plasma membrane		g.chr19:43922079G>T	AF241268	CCDS12619.1, CCDS59393.1	19q13.31	2013-06-06	2007-03-13			ENSG00000131126			30722	protein-coding gene	gene with protein product	"""cancer/testis antigen 131"", ""spermatogenesis associated 44"""	612665	"""testis expressed sequence 101"""			16388701, 16516155	Standard	NM_031451		Approved	MGC4766, SGRG, CT131, SPATA44	uc010xwo.2	Q9BY14		ENST00000598265.1:c.441G>T	19.37:g.43922079G>T						TEX101_uc002owk.2_Silent_p.G165G	p.G147G	NM_001130011	NP_001123483	Q9BY14	TX101_HUMAN			5	636	+		Prostate(69;0.0199)	147					Q7L5R2|Q9BPY7	Silent	SNP	ENST00000598265.1	37	c.441G>T	CCDS59393.1																																																																																				PASS	0.493	TEX101-004	KNOWN	non_canonical_other|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000463176.1	NM_031451		11	278	11	278	---	---	---	---
PLAUR	5329	broad.mit.edu	37	19	44169569	44169569	+	Nonsense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:44169569G>C	ENST00000340093.3	-	3	438	c.209C>G	c.(208-210)tCa>tGa	p.S70*	PLAUR_ENST00000339082.3_Nonsense_Mutation_p.S70*|PLAUR_ENST00000601723.1_Nonsense_Mutation_p.S70*|PLAUR_ENST00000221264.4_Nonsense_Mutation_p.S70*|AC006953.1_ENST00000580312.1_RNA	NM_002659.3	NP_002650.1	Q03405	UPAR_HUMAN	plasminogen activator, urokinase receptor	70	UPAR/Ly6 1.				attachment of GPI anchor to protein (GO:0016255)|blood coagulation (GO:0007596)|C-terminal protein lipidation (GO:0006501)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|chemotaxis (GO:0006935)|fibrinolysis (GO:0042730)|post-translational protein modification (GO:0043687)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|urokinase plasminogen activator signaling pathway (GO:0038195)	anchored component of membrane (GO:0031225)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)|urokinase plasminogen activator receptor activity (GO:0030377)	p.S70*(2)		endometrium(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|urinary_tract(3)	20		Prostate(69;0.0153)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GGTCTTCTCTGAGTGGGTACA	0.542																																						uc002oxf.1																			2	Substitution - Nonsense(2)		lung(2)	ovary(1)	1						c.(208-210)TCA>TGA		plasminogen activator, urokinase receptor	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Urokinase(DB00013)						231.0	177.0	195.0					19																	44169569		2203	4300	6503	SO:0001587	stop_gained	5329				attachment of GPI anchor to protein|blood coagulation|C-terminal protein lipidation|cellular component movement|chemotaxis|fibrinolysis|regulation of proteolysis	anchored to membrane|cell surface|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|extrinsic to membrane|integral to membrane|plasma membrane	enzyme binding|U-plasminogen activator receptor activity	g.chr19:44169569G>C		CCDS12628.1, CCDS33041.1, CCDS33042.1, CCDS74386.1	19q13	2012-03-15			ENSG00000011422	ENSG00000011422		"""CD molecules"""	9053	protein-coding gene	gene with protein product	"""urokinase-type plasminogen activator (uPA) receptor"", ""urokinase plasminogen activator surface receptor"""	173391					Standard	NM_002659		Approved	URKR, UPAR, CD87	uc002oxf.2	Q03405		ENST00000340093.3:c.209C>G	19.37:g.44169569G>C	ENSP00000339328:p.Ser70*					PLAUR_uc002oxd.1_Nonsense_Mutation_p.S70*|PLAUR_uc002oxe.1_Nonsense_Mutation_p.S65*|PLAUR_uc002oxg.1_Nonsense_Mutation_p.S70*	p.S70*	NM_002659	NP_002650	Q03405	UPAR_HUMAN			3	439	-		Prostate(69;0.0153)	70			UPAR/Ly6 1.		A8K409|Q12876|Q15845|Q16887|Q6IB52|Q9BWT0|Q9NYC8|Q9UD69|Q9UEA6|Q9UM92|Q9UMV0	Nonsense_Mutation	SNP	ENST00000340093.3	37	c.209C>G	CCDS12628.1	.	.	.	.	.	.	.	.	.	.	g	25.3	4.626268	0.87560	.	.	ENSG00000011422	ENST00000339082;ENST00000340093;ENST00000221264	.	.	.	3.84	1.62	0.23740	.	2.973750	0.01744	N	0.029558	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	2.7657	6.2236	0.20695	0.0:0.2068:0.5796:0.2135	.	.	.	.	X	70	.	ENSP00000221264:S70X	S	-	2	0	PLAUR	48861409	0.000000	0.05858	0.008000	0.14137	0.575000	0.36095	0.397000	0.20883	0.296000	0.22592	0.282000	0.19409	TCA		PASS	0.542	PLAUR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463571.1	NM_002659		75	43	75	43	---	---	---	---
SULT2A1	6822	broad.mit.edu	37	19	48386955	48386955	+	Nonsense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:48386955G>T	ENST00000222002.3	-	2	363	c.224C>A	c.(223-225)tCa>tAa	p.S75*		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	75					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)	p.S75*(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	TACCCAGGGTGATCGCTCCCA	0.517																																						uc002phr.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(1)|pancreas(1)	2						c.(223-225)TCA>TAA		bile-salt sulfotransferase 2A1							105.0	86.0	92.0					19																	48386955		2203	4300	6503	SO:0001587	stop_gained	6822				3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity	g.chr19:48386955G>T	X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.224C>A	19.37:g.48386955G>T	ENSP00000222002:p.Ser75*						p.S75*	NM_003167	NP_003158	Q06520	ST2A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	2	364	-		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)	75						Nonsense_Mutation	SNP	ENST00000222002.3	37	c.224C>A	CCDS12707.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.463628	0.43736	.	.	ENSG00000105398	ENST00000222002	.	.	.	3.39	2.33	0.28932	.	0.126829	0.34245	N	0.004127	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.4519	0.16570	0.2625:0.0:0.7375:0.0	.	.	.	.	X	75	.	ENSP00000222002:S75X	S	-	2	0	SULT2A1	53078767	0.000000	0.05858	0.001000	0.08648	0.011000	0.07611	0.240000	0.18042	0.770000	0.33336	0.643000	0.83706	TCA		PASS	0.517	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1	NM_003167		56	26	56	26	---	---	---	---
LIG1	3978	broad.mit.edu	37	19	48654549	48654549	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:48654549C>G	ENST00000263274.7	-	7	933	c.514G>C	c.(514-516)Gag>Cag	p.E172Q	LIG1_ENST00000536218.1_Intron|LIG1_ENST00000427526.2_Missense_Mutation_p.E141Q|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	172					anatomical structure morphogenesis (GO:0009653)|base-excision repair (GO:0006284)|cell division (GO:0051301)|DNA biosynthetic process (GO:0071897)|DNA ligation involved in DNA repair (GO:0051103)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|response to hydrogen peroxide (GO:0042542)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	chromosome (GO:0005694)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|metal ion binding (GO:0046872)	p.E172Q(1)		breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	CCTTCCTTCTCTGTGGCCACT	0.562								Nucleotide excision repair (NER)																														uc002pia.1																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)|lung(1)	3						c.(514-516)GAG>CAG	NER	DNA ligase I	Bleomycin(DB00290)						141.0	131.0	134.0					19																	48654549		2203	4300	6503	SO:0001583	missense	3978				anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding	g.chr19:48654549C>G		CCDS12711.1, CCDS74409.1, CCDS74410.1	19q13.2-q13.3	2014-09-17				ENSG00000105486	6.5.1.1		6598	protein-coding gene	gene with protein product		126391					Standard	XM_005258934		Approved		uc002pia.1	P18858		ENST00000263274.7:c.514G>C	19.37:g.48654549C>G	ENSP00000263274:p.Glu172Gln					LIG1_uc010xze.1_5'UTR|LIG1_uc002phz.1_RNA|LIG1_uc002pib.1_RNA|LIG1_uc010xzf.1_Intron|LIG1_uc010xzg.1_Missense_Mutation_p.E141Q|LIG1_uc010xzh.1_RNA	p.E172Q	NM_000234	NP_000225	P18858	DNLI1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	7	634	-		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)	172					B2RAI8|Q2TB12|Q32P23	Missense_Mutation	SNP	ENST00000263274.7	37	c.514G>C	CCDS12711.1	.	.	.	.	.	.	.	.	.	.	C	9.927	1.213803	0.22289	.	.	ENSG00000105486	ENST00000263274;ENST00000544761;ENST00000427526;ENST00000542460	T;T;T	0.58358	0.43;0.34;1.93	4.54	-6.95	0.01628	.	1.692150	0.02784	N	0.121243	T	0.28134	0.0694	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.04013	0.001;0.001	T	0.15093	-1.0449	10	0.20046	T	0.44	-0.3343	9.0403	0.36314	0.0:0.5195:0.311:0.1695	.	141;172	B4DTU4;P18858	.;DNLI1_HUMAN	Q	172;203;141;140	ENSP00000263274:E172Q;ENSP00000442841:E141Q;ENSP00000445928:E140Q	ENSP00000263274:E172Q	E	-	1	0	LIG1	53346361	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.413000	0.07123	-1.073000	0.03137	-0.367000	0.07326	GAG		PASS	0.562	LIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465575.1	NM_000234		30	171	30	171	---	---	---	---
TULP2	7288	broad.mit.edu	37	19	49392767	49392767	+	Splice_Site	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:49392767C>G	ENST00000221399.3	-	7	780	c.636G>C	c.(634-636)aaG>aaC	p.K212N		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	212					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)	p.K212N(1)		NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		ATTTTCCTACCTTTTGGAAGG	0.493																																						uc002pkz.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|kidney(1)|skin(1)	3						c.(634-636)AAG>AAC		tubby like protein 2							220.0	180.0	193.0					19																	49392767		2203	4300	6503	SO:0001630	splice_region_variant	7288				visual perception	cytoplasm|extracellular region		g.chr19:49392767C>G	U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.636+1G>C	19.37:g.49392767C>G							p.K212N	NM_003323	NP_003314	O00295	TULP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)	7	787	-		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	212					Q8TC50	Missense_Mutation	SNP	ENST00000221399.3	37	c.636G>C	CCDS12739.1	.	.	.	.	.	.	.	.	.	.	C	2.232	-0.375997	0.05034	.	.	ENSG00000104804	ENST00000221399;ENST00000518572;ENST00000522945	D;T;T	0.83250	-1.7;2.14;1.32	3.41	-0.0335	0.13901	.	40.970500	0.00166	N	0.000000	T	0.71643	0.3364	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.51116	-0.8746	9	.	.	.	-2.9776	2.2491	0.04039	0.1982:0.4965:0.1925:0.1127	.	212	O00295	TULP2_HUMAN	N	212;166;209	ENSP00000221399:K212N;ENSP00000428420:K166N;ENSP00000430040:K209N	.	K	-	3	2	TULP2	54084579	0.000000	0.05858	0.030000	0.17652	0.000000	0.00434	-0.228000	0.09114	0.099000	0.17552	-1.213000	0.01624	AAG		PASS	0.493	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378633.1	NM_003323	Missense_Mutation	103	67	103	67	---	---	---	---
SLC6A16	28968	broad.mit.edu	37	19	49814440	49814440	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:49814440C>T	ENST00000335875.4	-	2	406	c.165G>A	c.(163-165)cgG>cgA	p.R55R	MIR4324_ENST00000584846.1_RNA|SLC6A16_ENST00000454748.3_Silent_p.R55R	NM_014037.2	NP_054756.2	Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	55					neurotransmitter transport (GO:0006836)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)	neurotransmitter transporter activity (GO:0005326)|neurotransmitter:sodium symporter activity (GO:0005328)	p.R55R(1)		NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CCTCTGCAACCCGGGCTGCTG	0.547																																						uc002pmz.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)|kidney(1)	4						c.(163-165)CGG>CGA		solute carrier family 6, member 16							53.0	53.0	53.0					19																	49814440		1947	4136	6083	SO:0001819	synonymous_variant	28968					integral to membrane|intracellular	neurotransmitter:sodium symporter activity	g.chr19:49814440C>T	AF265578	CCDS42590.1	19q13.33	2013-05-22			ENSG00000063127	ENSG00000063127		"""Solute carriers"""	13622	protein-coding gene	gene with protein product	"""NTT5 protein"""	607972	"""solute carrier family 6 (neurotransmitter transporter), member 16"""			10471414, 11112352	Standard	XM_005258820		Approved	NTT5	uc002pmz.3	Q9GZN6		ENST00000335875.4:c.165G>A	19.37:g.49814440C>T						SLC6A16_uc002pna.2_Silent_p.R55R|hsa-mir-4324|MI0015854_5'Flank	p.R55R	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)	2	399	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)	55			Cytoplasmic (Potential).		Q8IYV4|Q9Y5I9	Silent	SNP	ENST00000335875.4	37	c.165G>A	CCDS42590.1																																																																																				PASS	0.547	SLC6A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465503.2	NM_014037		36	23	36	23	---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50905612	50905612	+	Missense_Mutation	SNP	A	A	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:50905612A>T	ENST00000440232.2	+	6	793	c.740A>T	c.(739-741)aAc>aTc	p.N247I	POLD1_ENST00000595904.1_Missense_Mutation_p.N247I|POLD1_ENST00000599857.1_Missense_Mutation_p.N247I	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	247					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.N247I(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TACGAGGCCAACGTCGACTTT	0.711								DNA polymerases (catalytic subunits)																														uc002psb.3																			2	Substitution - Missense(2)		lung(2)	upper_aerodigestive_tract(1)|central_nervous_system(1)	2						c.(739-741)AAC>ATC	DNA_polymerases_(catalytic_subunits)	DNA-directed DNA polymerase delta 1							34.0	40.0	38.0					19																	50905612		2203	4300	6503	SO:0001583	missense	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50905612A>T		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.740A>T	19.37:g.50905612A>T	ENSP00000406046:p.Asn247Ile					POLD1_uc002psc.3_Missense_Mutation_p.N247I|POLD1_uc010enx.2_RNA|POLD1_uc010eny.2_Missense_Mutation_p.N247I	p.N247I	NM_002691	NP_002682	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	6	796	+		all_neural(266;0.0571)	247					Q8NER3|Q96H98	Missense_Mutation	SNP	ENST00000440232.2	37	c.740A>T	CCDS12795.1	.	.	.	.	.	.	.	.	.	.	A	18.64	3.666463	0.67814	.	.	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.21361	2.01	4.17	4.17	0.49024	DNA-directed DNA polymerase, family B, exonuclease domain (1);Ribonuclease H-like (1);	0.177540	0.46442	D	0.000295	T	0.52757	0.1754	M	0.91510	3.215	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.76071	0.979;0.987	T	0.64245	-0.6453	10	0.87932	D	0	-45.9962	12.6079	0.56532	1.0:0.0:0.0:0.0	.	247;247	E7EVW0;P28340	.;DPOD1_HUMAN	I	247;248	ENSP00000406046:N247I	ENSP00000366129:N248I	N	+	2	0	POLD1	55597424	1.000000	0.71417	0.952000	0.39060	0.450000	0.32258	6.277000	0.72608	1.896000	0.54893	0.402000	0.26972	AAC		PASS	0.711	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			40	29	40	29	---	---	---	---
ZNF665	79788	broad.mit.edu	37	19	53678738	53678738	+	Intron	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:53678738C>A	ENST00000600412.1	-	2	63				ZNF665_ENST00000396424.3_Missense_Mutation_p.R34S			Q9H7R5	ZN665_HUMAN	zinc finger protein 665						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R34S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACATGACGTCCCTGTACAAAG	0.453																																						uc010eqm.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(100-102)AGG>AGT		zinc finger protein 665							136.0	141.0	139.0					19																	53678738		2203	4300	6503	SO:0001627	intron_variant	79788				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53678738C>A		CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.53-9138G>T	19.37:g.53678738C>A							p.R34S	NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN		GBM - Glioblastoma multiforme(134;0.0196)	3	202	-			Error:Variant_position_missing_in_Q9H7R5_after_alignment					A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37	c.102G>T		.	.	.	.	.	.	.	.	.	.	C	10.73	1.432572	0.25813	.	.	ENSG00000197497	ENST00000396424	T	0.02656	4.21	2.67	1.59	0.23543	.	.	.	.	.	T	0.09335	0.0230	.	.	.	0.22034	N	0.999407	D	0.63880	0.993	D	0.63033	0.91	T	0.14282	-1.0478	8	0.72032	D	0.01	.	7.3742	0.26818	0.0:0.8578:0.0:0.1422	.	34	Q9H7R5-2	.	S	34	ENSP00000379702:R34S	ENSP00000379702:R34S	R	-	3	2	ZNF665	58370550	0.127000	0.22367	0.236000	0.24074	0.011000	0.07611	0.731000	0.26058	0.443000	0.26582	0.655000	0.94253	AGG		PASS	0.453	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		129	61	129	61	---	---	---	---
CACNG7	59284	broad.mit.edu	37	19	54418653	54418653	+	Silent	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:54418653C>G	ENST00000391767.1	+	4	530	c.318C>G	c.(316-318)gtC>gtG	p.V106V	CACNG7_ENST00000391766.1_Silent_p.V106V|CACNG7_ENST00000222212.2_Silent_p.V106V|CACNG7_ENST00000468076.1_3'UTR			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	106					calcium ion transport (GO:0006816)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)	p.V106V(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		TCCCCATGGTCAGCCTCTTCC	0.602																																						uc002qcr.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(316-318)GTC>GTG		voltage-dependent calcium channel gamma-7							97.0	80.0	86.0					19																	54418653		2203	4300	6503	SO:0001819	synonymous_variant	59284				regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr19:54418653C>G	AF288387	CCDS12868.1	19q13.4	2008-05-02			ENSG00000105605	ENSG00000105605		"""Calcium channel subunits"""	13626	protein-coding gene	gene with protein product		606899				11170751	Standard	NM_031896		Approved		uc002qcr.2	P62955	OTTHUMG00000064852	ENST00000391767.1:c.318C>G	19.37:g.54418653C>G						CACNG7_uc010era.1_Silent_p.V106V	p.V106V	NM_031896	NP_114102	P62955	CCG7_HUMAN		GBM - Glioblastoma multiforme(134;0.0711)	3	333	+	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)		106			Helical; (Potential).		Q52LL8|Q8VBX3|Q8WXS6|Q9BXT1	Silent	SNP	ENST00000391767.1	37	c.318C>G	CCDS12868.1																																																																																				PASS	0.602	CACNG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139240.2			47	30	47	30	---	---	---	---
ZNF579	163033	broad.mit.edu	37	19	56089972	56089972	+	Nonsense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:56089972G>C	ENST00000325421.4	-	2	1062	c.1034C>G	c.(1033-1035)tCa>tGa	p.S345*	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	345	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.S345*(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		CCCCTTGGCTGAGTTCCGTGC	0.771																																						uc002qlh.2																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1033-1035)TCA>TGA		zinc finger protein 579							5.0	8.0	7.0					19																	56089972		1933	3896	5829	SO:0001587	stop_gained	163033				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56089972G>C	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"""Zinc fingers, C2H2-type"""	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.1034C>G	19.37:g.56089972G>C	ENSP00000320188:p.Ser345*						p.S345*	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)	2	1087	-			345			Gly-rich.			Nonsense_Mutation	SNP	ENST00000325421.4	37	c.1034C>G	CCDS12927.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.882279	0.91740	.	.	ENSG00000218891	ENST00000325421	.	.	.	3.25	2.2	0.27929	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.1337	0.31041	0.1306:0.0:0.8694:0.0	.	.	.	.	X	345	.	ENSP00000320188:S345X	S	-	2	0	ZNF579	60781784	0.177000	0.23109	1.000000	0.80357	0.705000	0.40729	-0.266000	0.08631	1.827000	0.53221	0.561000	0.74099	TCA		PASS	0.771	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600		19	7	19	7	---	---	---	---
ZNF579	163033	broad.mit.edu	37	19	56090271	56090271	+	Silent	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:56090271G>C	ENST00000325421.4	-	2	763	c.735C>G	c.(733-735)ctC>ctG	p.L245L	CTD-2537I9.5_ENST00000589396.1_lincRNA	NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.L245L(1)		endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GGTGCGCCTTGAGCTCGCCCT	0.701																																						uc002qlh.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(733-735)CTC>CTG		zinc finger protein 579							11.0	13.0	12.0					19																	56090271		2186	4276	6462	SO:0001819	synonymous_variant	163033				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:56090271G>C	AK092772	CCDS12927.1	19q13.42	2013-09-20			ENSG00000218891	ENSG00000218891		"""Zinc fingers, C2H2-type"""	26646	protein-coding gene	gene with protein product							Standard	NM_152600		Approved	FLJ35453	uc002qlh.3	Q8NAF0	OTTHUMG00000180857	ENST00000325421.4:c.735C>G	19.37:g.56090271G>C							p.L245L	NM_152600	NP_689813	Q8NAF0	ZN579_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)	2	788	-			245						Silent	SNP	ENST00000325421.4	37	c.735C>G	CCDS12927.1																																																																																				PASS	0.701	ZNF579-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453348.1	NM_152600		9	4	9	4	---	---	---	---
ZSCAN4	201516	broad.mit.edu	37	19	58190226	58190226	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:58190226G>A	ENST00000318203.5	+	5	1952	c.1255G>A	c.(1255-1257)Gag>Aag	p.E419K		NM_152677.2	NP_689890.1	Q8NAM6	ZSCA4_HUMAN	zinc finger and SCAN domain containing 4	419					telomere maintenance via telomere lengthening (GO:0010833)|transcription, DNA-templated (GO:0006351)	nuclear chromosome, telomeric region (GO:0000784)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E419K(1)		endometrium(3)|large_intestine(5)|liver(2)|lung(17)|ovary(1)|skin(1)|stomach(1)	30		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGGACTCATGAGAAAATTAC	0.428																																						uc002qpu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1255-1257)GAG>AAG		zinc finger and SCAN domain containing 4							70.0	71.0	71.0					19																	58190226		2203	4300	6503	SO:0001583	missense	201516				telomere maintenance via telomere lengthening|viral reproduction	nuclear chromosome, telomeric region	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58190226G>A	AK092424	CCDS12958.1	19q13.43	2013-01-08	2004-11-01	2004-11-02		ENSG00000180532		"""-"", ""Zinc fingers, C2H2-type"""	23709	protein-coding gene	gene with protein product		613419	"""zinc finger protein 494"""	ZNF494			Standard	NM_152677		Approved	FLJ35105	uc002qpu.3	Q8NAM6		ENST00000318203.5:c.1255G>A	19.37:g.58190226G>A	ENSP00000321963:p.Glu419Lys						p.E419K	NM_152677	NP_689890	Q8NAM6	ZSCA4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	5	1952	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)	419					Q3MIQ2	Missense_Mutation	SNP	ENST00000318203.5	37	c.1255G>A	CCDS12958.1	.	.	.	.	.	.	.	.	.	.	G	4.624	0.115967	0.08831	.	.	ENSG00000180532	ENST00000318203	T	0.08008	3.14	4.41	1.06	0.20224	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.737799	0.12177	N	0.492410	T	0.03827	0.0108	N	0.12746	0.255	0.09310	N	0.999993	B	0.02656	0.0	B	0.04013	0.001	T	0.46119	-0.9214	10	0.07030	T	0.85	-9.1397	7.6354	0.28264	0.1582:0.4368:0.405:0.0	.	419	Q8NAM6	ZSCA4_HUMAN	K	419	ENSP00000321963:E419K	ENSP00000321963:E419K	E	+	1	0	ZSCAN4	62882038	0.021000	0.18746	0.137000	0.22149	0.010000	0.07245	-1.724000	0.01865	0.367000	0.24454	-0.127000	0.14921	GAG		PASS	0.428	ZSCAN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466812.1	NM_152677		98	57	98	57	---	---	---	---
ZSCAN1	284312	broad.mit.edu	37	19	58565154	58565154	+	Missense_Mutation	SNP	C	C	A	rs143175520		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:58565154C>A	ENST00000282326.1	+	6	1209	c.962C>A	c.(961-963)cCg>cAg	p.P321Q		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	321					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)	p.P321Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGCCCTTTCCGTGCCCCGAG	0.632																																						uc002qrc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(961-963)CCG>CAG		zinc finger and SCAN domain containing 1							71.0	63.0	65.0					19																	58565154		2203	4300	6503	SO:0001583	missense	284312				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:58565154C>A	AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.962C>A	19.37:g.58565154C>A	ENSP00000282326:p.Pro321Gln						p.P321Q	NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)	6	1209	+		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)	321			C2H2-type 2.		Q3B798|Q6WLH8|Q86WS8	Missense_Mutation	SNP	ENST00000282326.1	37	c.962C>A	CCDS12969.1	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585891	0.28268	.	.	ENSG00000152467	ENST00000282326	T	0.17213	2.29	1.22	-0.00406	0.14023	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06735	0.0172	N	0.04724	-0.175	0.80722	D	1	B	0.26975	0.165	B	0.31191	0.125	T	0.36237	-0.9756	9	0.13853	T	0.58	.	6.0902	0.19991	0.3022:0.6977:0.0:0.0	.	321	Q8NBB4	ZSCA1_HUMAN	Q	321	ENSP00000282326:P321Q	ENSP00000282326:P321Q	P	+	2	0	ZSCAN1	63256966	0.000000	0.05858	0.035000	0.18076	0.548000	0.35241	-0.408000	0.07169	0.039000	0.15632	0.313000	0.20887	CCG		PASS	0.632	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466427.1	NM_182572		53	31	53	31	---	---	---	---
ZNF324B	388569	broad.mit.edu	37	19	58967450	58967450	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:58967450G>A	ENST00000336614.4	+	4	1246	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	ZNF324B_ENST00000545523.1_Missense_Mutation_p.R380H|ZNF324B_ENST00000391696.1_Missense_Mutation_p.R370H	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	380					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R380H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCTTCTGCCGCAACTCGCAC	0.652																																						uc002qsv.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1138-1140)CGC>CAC		zinc finger protein 324B							29.0	29.0	29.0					19																	58967450		2200	4295	6495	SO:0001583	missense	388569				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58967450G>A	AK127750	CCDS33138.1	19q13.43	2013-01-08				ENSG00000249471		"""Zinc fingers, C2H2-type"", ""-"""	33107	protein-coding gene	gene with protein product							Standard	NM_207395		Approved	FLJ45850	uc002qsv.1	Q6AW86		ENST00000336614.4:c.1139G>A	19.37:g.58967450G>A	ENSP00000337473:p.Arg380His					ZNF324B_uc002qsu.1_Missense_Mutation_p.R370H|ZNF324B_uc010euq.1_Missense_Mutation_p.R380H	p.R380H	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	1246	+		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)	380			C2H2-type 5.		B2RTZ6|Q6ZMX8|Q6ZS42	Missense_Mutation	SNP	ENST00000336614.4	37	c.1139G>A	CCDS33138.1	.	.	.	.	.	.	.	.	.	.	G	13.31	2.198783	0.38806	.	.	ENSG00000249471	ENST00000336614;ENST00000545523;ENST00000391696	T;T;T	0.07327	3.2;3.2;3.2	2.66	1.57	0.23409	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.42294	D	0.000724	T	0.11623	0.0283	L	0.38838	1.175	0.30214	N	0.797426	D;B	0.89917	1.0;0.296	P;B	0.59825	0.864;0.006	T	0.09509	-1.0671	10	0.17832	T	0.49	.	8.1089	0.30903	0.1324:0.0:0.8676:0.0	.	380;370	Q6AW86;C9JTQ8	Z324B_HUMAN;.	H	380;380;370	ENSP00000337473:R380H;ENSP00000438930:R380H;ENSP00000375578:R370H	ENSP00000337473:R380H	R	+	2	0	ZNF324B	63659262	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	-0.721000	0.04963	0.646000	0.30693	0.591000	0.81541	CGC		PASS	0.652	ZNF324B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467038.1	NM_207395		3	51	3	51	---	---	---	---
MZF1	7593	broad.mit.edu	37	19	59073609	59073609	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:59073609G>A	ENST00000215057.2	-	6	2595	c.2035C>T	c.(2035-2037)Cgg>Tgg	p.R679W	AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|AC016629.8_ENST00000600534.1_RNA|MZF1_ENST00000594234.1_3'UTR|MZF1_ENST00000599369.1_Missense_Mutation_p.R679W	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	679					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.R679W(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GCGTAGGGCCGTTCACCCGTG	0.692																																						uc002qto.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(2035-2037)CGG>TGG		zinc finger protein 42 isoform 2							60.0	45.0	50.0					19																	59073609		2203	4298	6501	SO:0001583	missense	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59073609G>A	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.2035C>T	19.37:g.59073609G>A	ENSP00000215057:p.Arg679Trp					LOC100131691_uc002qtm.2_Intron|MZF1_uc002qtn.2_Missense_Mutation_p.R679W	p.R679W	NM_198055	NP_932172	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	6	2596	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	679					M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	c.2035C>T	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	G	12.59	1.984244	0.35036	.	.	ENSG00000099326	ENST00000215057	T	0.20332	2.08	3.06	2.03	0.26663	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23727	0.0574	M	0.82716	2.605	0.34184	D	0.671231	B	0.21753	0.06	B	0.15484	0.013	T	0.30297	-0.9983	9	0.87932	D	0	-13.2505	3.5409	0.07811	0.1357:0.0:0.6146:0.2497	.	679	P28698	MZF1_HUMAN	W	679	ENSP00000215057:R679W	ENSP00000215057:R679W	R	-	1	2	MZF1	63765421	0.031000	0.19500	0.447000	0.26932	0.235000	0.25334	0.186000	0.16978	0.851000	0.35264	0.462000	0.41574	CGG		PASS	0.692	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		3	29	3	29	---	---	---	---
SIRPG	55423	broad.mit.edu	37	20	1617104	1617104	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:1617104G>T	ENST00000303415.3	-	3	542	c.478C>A	c.(478-480)Cct>Act	p.P160T	SIRPG_ENST00000381583.2_Missense_Mutation_p.P160T|SIRPG_ENST00000381580.1_Missense_Mutation_p.P127T|RP11-77C3.3_ENST00000456177.1_RNA|RP11-77C3.3_ENST00000437384.1_RNA|SIRPG_ENST00000216927.4_Missense_Mutation_p.P160T|SIRPG_ENST00000344103.4_Intron	NM_018556.3	NP_061026.2	Q9P1W8	SIRPG_HUMAN	signal-regulatory protein gamma	160	Ig-like C1-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell activation (GO:0050870)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.P160T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						GTATGCTCAGGTGTGGTCCTC	0.512																																						uc002wfm.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(478-480)CCT>ACT		signal-regulatory protein gamma isoform 1							119.0	108.0	112.0					20																	1617104		2203	4300	6503	SO:0001583	missense	55423				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding	g.chr20:1617104G>T	AB042624	CCDS13020.2, CCDS13021.2, CCDS33434.1	20p13	2013-01-11	2006-02-03	2006-02-03	ENSG00000089012	ENSG00000089012		"""Signal-regulatory proteins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C1-set domain containing"""	15757	protein-coding gene	gene with protein product		605466	"""signal-regulatory protein beta 2"""	SIRPB2		11185750, 16339511	Standard	XM_005260749		Approved	bA77C3.1, SIRP-B2, SIRPgamma, CD172g	uc002wfm.1	Q9P1W8	OTTHUMG00000031680	ENST00000303415.3:c.478C>A	20.37:g.1617104G>T	ENSP00000305529:p.Pro160Thr					SIRPG_uc002wfn.1_Missense_Mutation_p.P160T|SIRPG_uc002wfo.1_Intron|uc002wfp.1_Intron	p.P160T	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN			3	543	-			160			Extracellular (Potential).|Ig-like C1-type 1.		B1AKP6|Q5D051|Q5JV25|Q5MKL4|Q8WWA5|Q9NQK8	Missense_Mutation	SNP	ENST00000303415.3	37	c.478C>A	CCDS13020.2	.	.	.	.	.	.	.	.	.	.	.	6.766	0.510316	0.12883	.	.	ENSG00000089012	ENST00000381580;ENST00000303415;ENST00000381583;ENST00000216927	T;T;T;T	0.02631	4.22;4.22;4.22;4.22	2.09	0.914	0.19360	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.613682	0.15299	N	0.269707	T	0.05547	0.0146	M	0.85859	2.78	0.09310	N	1	B;B	0.30741	0.125;0.293	B;B	0.39465	0.061;0.3	T	0.38415	-0.9662	10	0.07990	T	0.79	.	5.0926	0.14715	0.0:0.0:0.652:0.348	.	160;160	Q9P1W8-4;Q9P1W8	.;SIRPG_HUMAN	T	127;160;160;160	ENSP00000370992:P127T;ENSP00000305529:P160T;ENSP00000370995:P160T;ENSP00000216927:P160T	ENSP00000216927:P160T	P	-	1	0	SIRPG	1565104	0.004000	0.15560	0.002000	0.10522	0.003000	0.03518	0.530000	0.23036	1.148000	0.42385	0.404000	0.27445	CCT		PASS	0.512	SIRPG-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077566.2	NM_018556		31	69	31	69	---	---	---	---
HSPA12B	116835	broad.mit.edu	37	20	3732708	3732708	+	Missense_Mutation	SNP	G	G	C	rs376453290		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:3732708G>C	ENST00000254963.2	+	13	2101	c.1956G>C	c.(1954-1956)gaG>gaC	p.E652D	HSPA12B_ENST00000542646.1_Missense_Mutation_p.E486D	NM_001197327.1|NM_052970.4	NP_001184256.1|NP_443202.3	Q96MM6	HS12B_HUMAN	heat shock 70kD protein 12B	652							ATP binding (GO:0005524)	p.E652D(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	14						GCCGCCGCGAGATCCGCGCCG	0.692													G|||	1	0.000199681	0.0	0.0014	5008	,	,		11228	0.0		0.0	False		,,,				2504	0.0					uc002wjd.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1954-1956)GAG>GAC		heat shock 70kD protein 12B							6.0	7.0	7.0					20																	3732708		2069	4067	6136	SO:0001583	missense	116835						ATP binding	g.chr20:3732708G>C	AK056712	CCDS13061.1	20p13	2011-09-02	2003-04-10	2003-04-10	ENSG00000132622	ENSG00000132622		"""Heat shock proteins / HSP70"""	16193	protein-coding gene	gene with protein product		610702	"""chromosome 20 open reading frame 60"""	C20orf60		12552099	Standard	NM_052970		Approved	dJ1009E24.2	uc002wjd.3	Q96MM6	OTTHUMG00000031755	ENST00000254963.2:c.1956G>C	20.37:g.3732708G>C	ENSP00000254963:p.Glu652Asp					HSPA12B_uc010zqi.1_Missense_Mutation_p.E651D|HSPA12B_uc002wje.2_Missense_Mutation_p.E565D|HSPA12B_uc010zqj.1_Missense_Mutation_p.E486D	p.E652D	NM_052970	NP_443202	Q96MM6	HS12B_HUMAN			13	2059	+			652					D3DVX7|Q2TAK3|Q9BR52	Missense_Mutation	SNP	ENST00000254963.2	37	c.1956G>C	CCDS13061.1	.	.	.	.	.	.	.	.	.	.	G	19.74	3.883420	0.72410	.	.	ENSG00000132622	ENST00000254963;ENST00000542646;ENST00000399701	T;T;T	0.47177	1.44;0.85;0.85	5.5	4.55	0.56014	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	L	0.48986	1.54	0.54753	D	0.999985	P;D	0.89917	0.537;1.0	B;D	0.87578	0.32;0.998	T	0.53669	-0.8406	10	0.16420	T	0.52	-13.7362	12.0921	0.53733	0.0837:0.0:0.9163:0.0	.	651;652	B7ZLP2;Q96MM6	.;HS12B_HUMAN	D	652;486;566	ENSP00000254963:E652D;ENSP00000441506:E486D;ENSP00000382608:E566D	ENSP00000254963:E652D	E	+	3	2	HSPA12B	3680708	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.464000	0.66719	1.333000	0.45449	-0.253000	0.11424	GAG		PASS	0.692	HSPA12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077756.2	NM_052970		3	14	3	14	---	---	---	---
RIN2	54453	broad.mit.edu	37	20	19956105	19956105	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:19956105C>T	ENST00000255006.6	+	8	1732	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	479					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.S528F(1)|p.S479F(1)		autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CCCATCAAGTCCAAAAAGAAA	0.592																																						uc002wro.1																			2	Substitution - Missense(2)		lung(2)	lung(4)|ovary(1)	5						c.(1435-1437)TCC>TTC		Ras and Rab interactor 2							74.0	84.0	81.0					20																	19956105		1981	4153	6134	SO:0001583	missense	54453				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr20:19956105C>T	AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.1583C>T	20.37:g.19956105C>T	ENSP00000255006:p.Ser528Phe					RIN2_uc010gcu.1_Intron|RIN2_uc010gcv.1_Missense_Mutation_p.S273F	p.S479F	NM_018993	NP_061866	Q8WYP3	RIN2_HUMAN			7	1472	+			479					Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	ENST00000255006.6	37	c.1436C>T	CCDS56182.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023877	0.75390	.	.	ENSG00000132669	ENST00000255006	T	0.09817	2.94	5.64	5.64	0.86602	.	0.436999	0.27060	N	0.021123	T	0.18551	0.0445	M	0.63843	1.955	0.80722	D	1	D	0.56521	0.976	P	0.44732	0.459	T	0.00621	-1.1640	9	.	.	.	-30.4048	19.6484	0.95791	0.0:1.0:0.0:0.0	.	479	Q8WYP3	RIN2_HUMAN	F	528	ENSP00000255006:S528F	.	S	+	2	0	RIN2	19904105	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	3.705000	0.54823	2.821000	0.97095	0.655000	0.94253	TCC		PASS	0.592	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078212.1			9	60	9	60	---	---	---	---
NKX2-2	4821	broad.mit.edu	37	20	21493106	21493106	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:21493106C>A	ENST00000377142.4	-	2	633	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	93					astrocyte differentiation (GO:0048708)|brain development (GO:0007420)|digestive tract development (GO:0048565)|endocrine pancreas development (GO:0031018)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|oligodendrocyte development (GO:0014003)|optic nerve development (GO:0021554)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)|spinal cord oligodendrocyte cell fate specification (GO:0021530)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)|type B pancreatic cell fate commitment (GO:0003327)|ventral spinal cord interneuron fate determination (GO:0060580)	nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|core promoter proximal region DNA binding (GO:0001159)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)	p.G93W(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGGGGCGCCCCGGCAGCCAGA	0.726																																						uc002wsi.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(277-279)GGG>TGG		NK2 transcription factor related, locus 2							4.0	7.0	6.0					20																	21493106		1763	3732	5495	SO:0001583	missense	4821				brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity	g.chr20:21493106C>A	AF019415	CCDS13145.1	20p11.22	2012-03-09	2007-07-09	2002-10-04	ENSG00000125820	ENSG00000125820		"""Homeoboxes / ANTP class : NKL subclass"""	7835	protein-coding gene	gene with protein product		604612	"""NK-2 (Drosophila) homolog B"", ""NK2 transcription factor related, locus 2 (Drosophila)"""	NKX2B		9703340, 1346742	Standard	NM_002509		Approved	NKX2.2	uc002wsi.3	O95096	OTTHUMG00000170524	ENST00000377142.4:c.277G>T	20.37:g.21493106C>A	ENSP00000366347:p.Gly93Trp						p.G93W	NM_002509	NP_002500	O95096	NKX22_HUMAN			2	634	-			93						Missense_Mutation	SNP	ENST00000377142.4	37	c.277G>T	CCDS13145.1	.	.	.	.	.	.	.	.	.	.	C	11.12	1.546028	0.27652	.	.	ENSG00000125820	ENST00000377142	D	0.91521	-2.86	5.09	0.676	0.17958	.	0.904195	0.09599	N	0.780467	D	0.86711	0.5998	L	0.29908	0.895	0.30275	N	0.791834	P	0.52463	0.953	P	0.47864	0.559	T	0.79764	-0.1666	10	0.66056	D	0.02	.	8.6233	0.33875	0.0:0.4164:0.0:0.5836	.	93	O95096	NKX22_HUMAN	W	93	ENSP00000366347:G93W	ENSP00000366347:G93W	G	-	1	0	NKX2-2	21441106	0.223000	0.23663	0.593000	0.28771	0.202000	0.24057	0.984000	0.29565	-0.122000	0.11766	0.462000	0.41574	GGG		PASS	0.726	NKX2-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078278.9			5	19	5	19	---	---	---	---
TRPC4AP	26133	broad.mit.edu	37	20	33593507	33593507	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:33593507C>G	ENST00000252015.2	-	16	2016	c.1927G>C	c.(1927-1929)Gat>Cat	p.D643H	TRPC4AP_ENST00000432634.2_Missense_Mutation_p.D604H|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.D635H|TRPC4AP_ENST00000539834.1_Missense_Mutation_p.D245H			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	643					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|protein ubiquitination (GO:0016567)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process (GO:0006511)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|plasma membrane (GO:0005886)	phosphatase binding (GO:0019902)	p.D643H(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			CCTTTCATATCCACCTGGTTT	0.517																																						uc002xbk.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|skin(1)	2						c.(1927-1929)GAT>CAT		TRPC4-associated protein isoform a							113.0	89.0	97.0					20																	33593507		2203	4300	6503	SO:0001583	missense	26133				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding	g.chr20:33593507C>G	AF055022	CCDS13246.1, CCDS46591.1	20q11.23	2014-06-13	2003-10-06	2003-10-08	ENSG00000100991	ENSG00000100991			16181	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 158"""	608430	"""chromosome 20 open reading frame 188"""	C20orf188			Standard	NM_015638		Approved	DKFZP727M231, DKFZp586C1223, dJ756N5.2, TRRP4AP, PPP1R158	uc002xbk.3	Q8TEL6	OTTHUMG00000032319	ENST00000252015.2:c.1927G>C	20.37:g.33593507C>G	ENSP00000252015:p.Asp643His					TRPC4AP_uc002xbj.2_RNA|TRPC4AP_uc010zuq.1_Missense_Mutation_p.D234H|TRPC4AP_uc002xbl.2_Missense_Mutation_p.D635H|TRPC4AP_uc010zur.1_Missense_Mutation_p.D604H	p.D643H	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00936)		16	1961	-			643					E1P5Q0|E1P5Q1|Q96H82|Q9BVB8|Q9H429|Q9UFS6	Missense_Mutation	SNP	ENST00000252015.2	37	c.1927G>C	CCDS13246.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.528624	0.85706	.	.	ENSG00000100991	ENST00000252015;ENST00000451813;ENST00000539834;ENST00000432634;ENST00000541994	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.73016	0.3533	L	0.40543	1.245	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.74348	0.983;0.979;0.979	T	0.72465	-0.4285	9	0.48119	T	0.1	.	19.0822	0.93187	0.0:1.0:0.0:0.0	.	604;635;643	B4E0Q1;E1P5Q0;Q8TEL6	.;.;TP4AP_HUMAN	H	643;635;245;604;628	.	ENSP00000252015:D643H	D	-	1	0	TRPC4AP	33057168	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	7.644000	0.83416	2.722000	0.93159	0.655000	0.94253	GAT		PASS	0.517	TRPC4AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078832.2	NM_015638		33	60	33	60	---	---	---	---
UQCC1	55245	broad.mit.edu	37	20	33969754	33969754	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:33969754C>A	ENST00000374385.5	-	4	477	c.300G>T	c.(298-300)atG>atT	p.M100I	UQCC1_ENST00000397556.3_Start_Codon_SNP_p.M1I|UQCC1_ENST00000397554.1_Missense_Mutation_p.M100I|UQCC1_ENST00000349714.5_Missense_Mutation_p.M100I|UQCC1_ENST00000540457.1_Intron|UQCC1_ENST00000374377.5_Intron|UQCC1_ENST00000407996.2_Intron|UQCC1_ENST00000374384.2_Missense_Mutation_p.M100I|UQCC1_ENST00000374380.2_Intron|UQCC1_ENST00000542501.1_Missense_Mutation_p.M100I|UQCC1_ENST00000359226.2_Missense_Mutation_p.M100I|UQCC1_ENST00000491125.1_5'UTR	NM_018244.4	NP_060714.3	Q9NVA1	UQCC1_HUMAN	ubiquinol-cytochrome c reductase complex assembly factor 1	100						cytoplasmic membrane-bounded vesicle (GO:0016023)|mitochondrion (GO:0005739)		p.M100I(1)									CCGTGAATCCCATGGCTTCTA	0.378																																						uc002xcd.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(298-300)ATG>ATT		basic FGF-repressed Zic binding protein isoform							182.0	183.0	183.0					20																	33969754		2203	4300	6503	SO:0001583	missense	55245					cytoplasmic membrane-bounded vesicle		g.chr20:33969754C>A	AK001712	CCDS13252.1, CCDS13253.1, CCDS13253.2, CCDS54458.1	20q11.22	2013-09-20	2013-09-20	2013-09-20	ENSG00000101019	ENSG00000101019		"""Mitochondrial respiratory chain complex assembly factors"""	15891	protein-coding gene	gene with protein product	"""Basic FGF-repressed Zic-binding protein"", ""cytochrome B protein synthesis 3 homolog (S. cerevisiae)"""	611797	"""chromosome 20 open reading frame 44"", ""ubiquinol-cytochrome c reductase complex chaperone"""	C20orf44, UQCC			Standard	NM_018244		Approved	FLJ10850, CBP3, BFZB	uc002xcd.3	Q9NVA1	OTTHUMG00000032335	ENST00000374385.5:c.300G>T	20.37:g.33969754C>A	ENSP00000363506:p.Met100Ile					UQCC_uc010zuy.1_Missense_Mutation_p.M1I|UQCC_uc010zuz.1_Intron|UQCC_uc010zva.1_Intron|UQCC_uc002xce.2_Missense_Mutation_p.M100I|UQCC_uc002xcg.2_5'UTR|UQCC_uc010gfb.2_Missense_Mutation_p.M100I|UQCC_uc010zvb.1_Intron|UQCC_uc002xcf.2_Intron|GDF5_uc010gfc.1_Intron|UQCC_uc002xci.1_Missense_Mutation_p.M54I|UQCC_uc010gfd.1_Missense_Mutation_p.M86I	p.M100I	NM_018244	NP_060714	Q9NVA1	UQCC_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00252)		4	367	-			100					B1AKV5|Q0VF37|Q5T348|Q5T351|Q5T353|Q86YU3|Q86YU4|Q96H66|Q9H438|Q9H452|Q9H9K8|Q9H9R5	Missense_Mutation	SNP	ENST00000374385.5	37	c.300G>T	CCDS13252.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688665	0.68271	.	.	ENSG00000101019	ENST00000349714;ENST00000359226;ENST00000374384;ENST00000374385;ENST00000397556;ENST00000424405;ENST00000542501;ENST00000438533;ENST00000397554	T;T;T;T;T;T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33;-0.33	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	T	0.78052	0.4223	M	0.75264	2.295	0.58432	D	0.999996	B;P;P;P;B	0.51933	0.11;0.949;0.568;0.908;0.397	B;D;B;P;B	0.63381	0.132;0.914;0.132;0.569;0.147	T	0.74850	-0.3524	10	0.21540	T	0.41	-16.2172	14.5783	0.68265	0.0:1.0:0.0:0.0	.	92;100;100;100;100	Q59FR0;B7ZBG3;B1AKV2;B7ZBG4;Q9NVA1	.;.;.;.;UQCC_HUMAN	I	100;100;100;100;1;68;100;114;100	ENSP00000335364:M100I;ENSP00000352161:M100I;ENSP00000363505:M100I;ENSP00000363506:M100I;ENSP00000380688:M1I;ENSP00000399713:M68I;ENSP00000445059:M100I;ENSP00000398531:M114I;ENSP00000380686:M100I	ENSP00000335364:M100I	M	-	3	0	UQCC	33433168	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.956000	0.70315	2.414000	0.81942	0.655000	0.94253	ATG		PASS	0.378	UQCC1-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078866.1	NM_018244		74	178	74	178	---	---	---	---
TGM2	7052	broad.mit.edu	37	20	36766704	36766704	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:36766704G>A	ENST00000361475.2	-	10	1599	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	TGM2_ENST00000536701.1_Missense_Mutation_p.R395W|TGM2_ENST00000536724.1_Missense_Mutation_p.R416W	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	476					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.R476W(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	ACACGGATCCGCATGGCCATC	0.587																																						uc002xhr.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)|lung(1)|ovary(1)	3						c.(1426-1428)CGG>TGG		transglutaminase 2 isoform a	L-Glutamine(DB00130)						114.0	86.0	96.0					20																	36766704		2203	4300	6503	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36766704G>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1426C>T	20.37:g.36766704G>A	ENSP00000355330:p.Arg476Trp					TGM2_uc010zvx.1_Missense_Mutation_p.R395W|TGM2_uc010zvy.1_Missense_Mutation_p.R416W|TGM2_uc002xhs.1_Missense_Mutation_p.R452W|TGM2_uc002xht.2_Missense_Mutation_p.R476W	p.R476W	NM_004613	NP_004604	P21980	TGM2_HUMAN			10	1526	-		Myeloproliferative disorder(115;0.00878)	476					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.1426C>T	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.886723	0.72410	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	T;T;T	0.69306	-0.39;-0.39;-0.39	4.89	-0.192	0.13248	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.343992	0.30142	N	0.010308	T	0.77391	0.4123	M	0.67953	2.075	0.36169	D	0.848618	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.73708	0.967;0.95;0.967;0.981;0.95	T	0.82271	-0.0540	10	0.72032	D	0.01	-6.428	14.3819	0.66916	0.0:0.0:0.3495:0.6505	.	416;395;476;416;476	F5H6P0;B4DIT7;P21980-2;B4DTN7;P21980	.;.;.;.;TGM2_HUMAN	W	476;395;416	ENSP00000355330:R476W;ENSP00000444701:R395W;ENSP00000437479:R416W	ENSP00000355330:R476W	R	-	1	2	TGM2	36200118	0.189000	0.23263	0.996000	0.52242	0.947000	0.59692	0.273000	0.18662	0.077000	0.16863	0.561000	0.74099	CGG		PASS	0.587	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951		15	73	15	73	---	---	---	---
RALGAPB	57148	broad.mit.edu	37	20	37126041	37126041	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:37126041G>A	ENST00000262879.6	+	4	719	c.435G>A	c.(433-435)ctG>ctA	p.L145L	RALGAPB_ENST00000397042.3_Silent_p.L145L|RALGAPB_ENST00000537204.1_Silent_p.L145L|RALGAPB_ENST00000397040.1_Silent_p.L145L|RALGAPB_ENST00000397038.1_5'UTR			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	145					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)|Ral protein signal transduction (GO:0032484)|regulation of exocyst localization (GO:0060178)		protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.L145L(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TACAGGTCCTGAGAGCCATTC	0.483																																						uc002xiw.2																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)|skin(1)	2						c.(433-435)CTG>CTA		Ral GTPase activating protein, beta subunit							145.0	123.0	130.0					20																	37126041		2203	4300	6503	SO:0001819	synonymous_variant	57148				activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity	g.chr20:37126041G>A	AB033045	CCDS13305.1, CCDS63272.1	20q11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000170471	ENSG00000170471			29221	protein-coding gene	gene with protein product			"""KIAA1219"""	KIAA1219		19520869	Standard	XM_005260462		Approved	DKFZp781M2411, RalGAPbeta	uc002xiw.3	Q86X10	OTTHUMG00000140270	ENST00000262879.6:c.435G>A	20.37:g.37126041G>A						RALGAPB_uc010zvz.1_Silent_p.L145L|RALGAPB_uc002xix.2_Silent_p.L145L|RALGAPB_uc002xiy.1_Silent_p.L145L|RALGAPB_uc002xiz.2_Intron	p.L145L	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN			4	692	+			145					A2A2E8|A2A2E9|Q5TG31|Q8N3D1|Q8WWC0|Q9H3X8|Q9UJR1|Q9ULK1|Q9Y3G9	Silent	SNP	ENST00000262879.6	37	c.435G>A	CCDS13305.1																																																																																				PASS	0.483	RALGAPB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079191.1	NM_020336		16	85	16	85	---	---	---	---
PLCG1	5335	broad.mit.edu	37	20	39802170	39802170	+	Silent	SNP	T	T	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:39802170T>C	ENST00000373271.1	+	28	3795	c.3390T>C	c.(3388-3390)ttT>ttC	p.F1130F	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000244007.3_Silent_p.F1130F|PLCG1_ENST00000373272.2_Silent_p.F1130F	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1130	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)	p.F1130F(1)		breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AGACAGAGTTTGTGGGTCAGT	0.562											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002xjp.1																			1	Substitution - coding silent(1)		lung(1)	lung(3)|breast(3)|skin(2)	8						c.(3388-3390)TTT>TTC		phospholipase C, gamma 1 isoform b							125.0	102.0	110.0					20																	39802170		2203	4300	6503	SO:0001819	synonymous_variant	5335				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity	g.chr20:39802170T>C	M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.3390T>C	20.37:g.39802170T>C			OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	888	PLCG1_uc002xjo.1_Silent_p.F1130F|PLCG1_uc010zwe.1_Silent_p.F756F	p.F1130F	NM_182811	NP_877963	P19174	PLCG1_HUMAN			28	3511	+		Myeloproliferative disorder(115;0.00878)	1130			C2.		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Silent	SNP	ENST00000373271.1	37	c.3390T>C	CCDS13314.1																																																																																				PASS	0.562	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080514.3	NM_182811		16	52	16	52	---	---	---	---
PTPRT	11122	broad.mit.edu	37	20	40713430	40713430	+	Missense_Mutation	SNP	T	T	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:40713430T>C	ENST00000373187.1	-	29	4027	c.4028A>G	c.(4027-4029)tAc>tGc	p.Y1343C	PTPRT_ENST00000356100.2_Missense_Mutation_p.Y1352C|PTPRT_ENST00000373193.3_Missense_Mutation_p.Y1346C|PTPRT_ENST00000373190.1_Missense_Mutation_p.Y1342C|PTPRT_ENST00000373201.1_Missense_Mutation_p.Y1333C|PTPRT_ENST00000373198.4_Missense_Mutation_p.Y1362C|PTPRT_ENST00000373184.1_Missense_Mutation_p.Y1353C			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1343	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)	p.Y1365C(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CGTGTCCCGGTAGGCAGGCCA	0.592																																						uc002xkg.2																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(7)|lung(5)	20						c.(4027-4029)TAC>TGC		protein tyrosine phosphatase, receptor type, T							60.0	65.0	63.0					20																	40713430		2041	4179	6220	SO:0001583	missense	11122				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	g.chr20:40713430T>C	AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.4028A>G	20.37:g.40713430T>C	ENSP00000362283:p.Tyr1343Cys					PTPRT_uc010ggj.2_Missense_Mutation_p.Y1362C|PTPRT_uc010ggi.2_Missense_Mutation_p.Y546C	p.Y1343C	NM_007050	NP_008981	O14522	PTPRT_HUMAN			29	4212	-		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)	1343			Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2.		A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Missense_Mutation	SNP	ENST00000373187.1	37	c.4028A>G	CCDS42874.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.095427	0.76870	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	T;T;T;T;T;T;T	0.13778	2.56;2.56;2.56;2.56;2.56;2.56;2.56	5.55	5.55	0.83447	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.283038	0.35436	N	0.003209	T	0.30603	0.0770	M	0.66378	2.025	0.54753	D	0.999982	D;P	0.56746	0.977;0.901	P;P	0.55545	0.754;0.778	T	0.01920	-1.1247	10	0.72032	D	0.01	.	15.8615	0.79026	0.0:0.0:0.0:1.0	.	1365;1343	O14522-1;O14522	.;PTPRT_HUMAN	C	1342;1343;1346;1352;1365;1353;1333	ENSP00000362286:Y1342C;ENSP00000362283:Y1343C;ENSP00000362289:Y1346C;ENSP00000348408:Y1352C;ENSP00000362294:Y1365C;ENSP00000362280:Y1353C;ENSP00000362297:Y1333C	ENSP00000348408:Y1352C	Y	-	2	0	PTPRT	40146844	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.091000	0.71406	2.333000	0.79357	0.533000	0.62120	TAC		PASS	0.592	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000080315.1			9	34	9	34	---	---	---	---
SULF2	55959	broad.mit.edu	37	20	46295089	46295089	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:46295089G>T	ENST00000359930.4	-	12	2571	c.1720C>A	c.(1720-1722)Caa>Aaa	p.Q574K	SULF2_ENST00000467815.1_Missense_Mutation_p.Q574K|SULF2_ENST00000361612.4_Missense_Mutation_p.Q574K|SULF2_ENST00000484875.1_Missense_Mutation_p.Q574K	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	574					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)	p.Q574K(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TTGTCATCTTGGTCCTCAGGG	0.632																																						uc002xto.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|breast(2)|pancreas(1)|skin(1)	6						c.(1720-1722)CAA>AAA		sulfatase 2 isoform a precursor							88.0	90.0	89.0					20																	46295089		2203	4300	6503	SO:0001583	missense	55959				bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	g.chr20:46295089G>T	AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1720C>A	20.37:g.46295089G>T	ENSP00000353007:p.Gln574Lys					SULF2_uc002xtr.2_Missense_Mutation_p.Q574K|SULF2_uc002xtq.2_Missense_Mutation_p.Q574K|SULF2_uc010zyd.1_5'Flank	p.Q574K	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN			12	2050	-			574					E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	ENST00000359930.4	37	c.1720C>A	CCDS13408.1	.	.	.	.	.	.	.	.	.	.	-	1.187	-0.636461	0.03557	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.98926	-5.24;-5.24;-5.24;-5.24	4.71	4.71	0.59529	Extracellular sulfatase, C-terminal (1);Alkaline-phosphatase-like, core domain (1);	1.527920	0.03421	N	0.206298	D	0.95962	0.8685	N	0.22421	0.69	0.21719	N	0.999573	B;B	0.11235	0.004;0.0	B;B	0.13407	0.009;0.002	D	0.84918	0.0852	10	0.05721	T	0.95	-0.0191	12.2624	0.54658	0.0:0.3187:0.6813:0.0	.	574;574	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	K	574	ENSP00000353007:Q574K;ENSP00000418290:Q574K;ENSP00000354662:Q574K;ENSP00000418442:Q574K	ENSP00000353007:Q574K	Q	-	1	0	SULF2	45728496	0.325000	0.24660	0.623000	0.29173	0.276000	0.26787	1.955000	0.40372	2.425000	0.82216	0.563000	0.77884	CAA		PASS	0.632	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079606.1	NM_018837		37	79	37	79	---	---	---	---
B4GALT5	9334	broad.mit.edu	37	20	48259098	48259098	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:48259098C>T	ENST00000371711.4	-	5	700	c.513G>A	c.(511-513)cgG>cgA	p.R171R		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	171	UDP-alpha-D-galactose binding. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)	p.R171R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			CGTGGCGGTTCCGGAAGGGGA	0.522																																						uc002xuu.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(511-513)CGG>CGA		UDP-Gal:betaGlcNAc beta 1,4-							91.0	83.0	86.0					20																	48259098		2203	4300	6503	SO:0001819	synonymous_variant	9334				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	galactosyltransferase activity|metal ion binding	g.chr20:48259098C>T	AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.513G>A	20.37:g.48259098C>T							p.R171R	NM_004776	NP_004767	O43286	B4GT5_HUMAN	BRCA - Breast invasive adenocarcinoma(9;2.51e-06)		5	707	-			171			Lumenal (Potential).		E1P625|Q2M394|Q9UJQ8	Silent	SNP	ENST00000371711.4	37	c.513G>A	CCDS13420.1																																																																																				PASS	0.522	B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776		25	66	25	66	---	---	---	---
DPM1	8813	broad.mit.edu	37	20	49552786	49552786	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:49552786C>G	ENST00000371588.5	-	8	603	c.577G>C	c.(577-579)Gaa>Caa	p.E193Q	DPM1_ENST00000466152.1_5'UTR|AL034553.1_ENST00000584882.1_RNA|DPM1_ENST00000371583.5_Missense_Mutation_p.E188Q|DPM1_ENST00000371582.4_Missense_Mutation_p.E220Q|RP5-914P20.5_ENST00000558899.2_RNA	NM_003859.1	NP_003850.1	O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	193					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|dolichol metabolic process (GO:0019348)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose metabolic process (GO:0019673)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|protein mannosylation (GO:0035268)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked mannosylation (GO:0035269)	dolichol-phosphate-mannose synthase complex (GO:0033185)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nucleus (GO:0005634)	alcohol binding (GO:0043178)|dolichyl-phosphate beta-D-mannosyltransferase activity (GO:0004582)|dolichyl-phosphate-mannose-protein mannosyltransferase activity (GO:0004169)|mannose binding (GO:0005537)	p.E193Q(1)		endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						TCTAGAACTTCTTTTCGGTAT	0.333																																						uc002xvw.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(577-579)GAA>CAA		dolichyl-phosphate mannosyltransferase 1							54.0	55.0	54.0					20																	49552786		2203	4300	6503	SO:0001583	missense	8813				C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding	g.chr20:49552786C>G	AF007875	CCDS13434.1	20q13.1	2013-02-26			ENSG00000000419	ENSG00000000419	2.4.1.83	"""Glycosyltransferase family 2 domain containing"""	3005	protein-coding gene	gene with protein product	"""DPM synthase complex, catalytic subunit"""	603503				9223280, 9535917	Standard	NM_003859		Approved	MPDS, CDGIE	uc002xvw.1	O60762	OTTHUMG00000032742	ENST00000371588.5:c.577G>C	20.37:g.49552786C>G	ENSP00000360644:p.Glu193Gln					DPM1_uc002xvv.1_Missense_Mutation_p.E123Q|DPM1_uc002xvx.1_RNA	p.E193Q	NM_003859	NP_003850	O60762	DPM1_HUMAN			8	577	-			193					O15157|Q6IB78|Q96HK0	Missense_Mutation	SNP	ENST00000371588.5	37	c.577G>C	CCDS13434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.69|15.69	2.907317|2.907317	0.52333|0.52333	.|.	.|.	ENSG00000000419|ENSG00000000419	ENST00000371588;ENST00000371582;ENST00000449701;ENST00000371583;ENST00000413082|ENST00000371584	T;T;T;T|.	0.61980|.	0.06;0.06;0.06;0.06|.	5.81|5.81	5.81|5.81	0.92471|0.92471	Glycosyl transferase, family 2 (1);|.	0.325774|.	0.37219|.	N|.	0.002199|.	T|T	0.72293|0.72293	0.3442|0.3442	L|L	0.55017|0.55017	1.72|1.72	0.51233|0.51233	D|D	0.999911|0.999911	B;B|.	0.21071|.	0.01;0.051|.	B;B|.	0.25759|.	0.043;0.063|.	T|T	0.67776|0.67776	-0.5583|-0.5583	9|5	.|.	.|.	.|.	-20.5758|-20.5758	19.6778|19.6778	0.95943|0.95943	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	193;228|.	O60762;E9PBD4|.	DPM1_HUMAN;.|.	Q|T	193;220;228;188;188|227	ENSP00000360644:E193Q;ENSP00000360638:E220Q;ENSP00000360639:E188Q;ENSP00000394921:E188Q|.	.|.	E|R	-|-	1|2	0|0	DPM1|DPM1	48986193|48986193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.909000|0.909000	0.53808|0.53808	3.537000|3.537000	0.53590|0.53590	2.744000|2.744000	0.94065|0.94065	0.655000|0.655000	0.94253|0.94253	GAA|AGA		PASS	0.333	DPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079716.1	NM_003859		22	32	22	32	---	---	---	---
BCAS1	8537	broad.mit.edu	37	20	52570115	52570115	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:52570115C>T	ENST00000395961.3	-	11	1702	c.1536G>A	c.(1534-1536)caG>caA	p.Q512Q	BCAS1_ENST00000434986.2_Silent_p.Q178Q|BCAS1_ENST00000371435.2_Silent_p.Q434Q|BCAS1_ENST00000371440.3_Silent_p.Q521Q	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	512						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)		p.Q512Q(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGTTGCTCTTCTGCTTGTTCA	0.547																																						uc002xws.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(1534-1536)CAG>CAA		breast carcinoma amplified sequence 1							282.0	215.0	238.0					20																	52570115		2203	4300	6503	SO:0001819	synonymous_variant	8537					cytoplasm	protein binding	g.chr20:52570115C>T	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1536G>A	20.37:g.52570115C>T						BCAS1_uc010zza.1_Silent_p.Q178Q|BCAS1_uc010zzb.1_Silent_p.Q438Q|BCAS1_uc010gim.2_Silent_p.Q368Q|BCAS1_uc002xwt.2_Silent_p.Q498Q|BCAS1_uc010gil.1_Silent_p.Q434Q	p.Q512Q	NM_003657	NP_003648	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		11	1874	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		512					A0AVG5|Q68CZ3	Silent	SNP	ENST00000395961.3	37	c.1536G>A	CCDS13444.1	.	.	.	.	.	.	.	.	.	.	C	0.224	-1.026604	0.02045	.	.	ENSG00000064787	ENST00000422805	.	.	.	5.17	-0.444	0.12245	.	.	.	.	.	T	0.50616	0.1626	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.37934	-0.9684	4	.	.	.	-0.1769	5.4439	0.16524	0.0:0.4737:0.2899:0.2364	.	.	.	.	K	175	.	.	R	-	2	0	BCAS1	52003522	0.993000	0.37304	0.098000	0.21074	0.016000	0.09150	0.446000	0.21694	-0.058000	0.13177	-0.321000	0.08615	AGA		PASS	0.547	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		20	97	20	97	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57768531	57768531	+	Silent	SNP	C	C	G	rs57571629	byFrequency	TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:57768531C>G	ENST00000371030.2	+	1	2457	c.2457C>G	c.(2455-2457)ccC>ccG	p.P819P		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	819							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.P819P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					ACAAGCTCCCCTCAGAGAGGA	0.637																																						uc002yan.2																			1	Substitution - coding silent(1)		lung(1)	skin(13)|ovary(1)	14						c.(2455-2457)CCC>CCG		zinc finger protein 831							31.0	39.0	37.0					20																	57768531		2003	4161	6164	SO:0001819	synonymous_variant	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57768531C>G	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.2457C>G	20.37:g.57768531C>G							p.P819P	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			1	2457	+	all_lung(29;0.0085)		819					Q5TDR4|Q8TCP0	Silent	SNP	ENST00000371030.2	37	c.2457C>G	CCDS42894.1																																																																																				PASS	0.637	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		14	44	14	44	---	---	---	---
PHACTR3	116154	broad.mit.edu	37	20	58318184	58318184	+	Silent	SNP	G	G	T	rs367879854		TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:58318184G>T	ENST00000371015.1	+	2	608	c.141G>T	c.(139-141)ccG>ccT	p.P47P	PHACTR3_ENST00000355648.4_Silent_p.P6P|PHACTR3_ENST00000395639.4_Silent_p.P6P|PHACTR3_ENST00000359926.3_Silent_p.P44P|PHACTR3_ENST00000395636.2_Silent_p.P6P|PHACTR3_ENST00000541461.1_Silent_p.P6P|PHACTR3_ENST00000361300.4_Silent_p.P6P	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	47						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)	p.P47P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAACGCCCCCGGCGCGTCCTG	0.572																																						uc002yau.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|pancreas(1)	3						c.(139-141)CCG>CCT		phosphatase and actin regulator 3 isoform 1							87.0	97.0	94.0					20																	58318184		2203	4300	6503	SO:0001819	synonymous_variant	116154					nuclear matrix	actin binding|protein phosphatase inhibitor activity	g.chr20:58318184G>T	AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.141G>T	20.37:g.58318184G>T						PHACTR3_uc002yat.2_Silent_p.P44P|PHACTR3_uc010zzw.1_Silent_p.P6P|PHACTR3_uc002yav.2_Silent_p.P6P|PHACTR3_uc002yaw.2_Silent_p.P6P|PHACTR3_uc002yax.2_Silent_p.P6P	p.P47P	NM_080672	NP_542403	Q96KR7	PHAR3_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.76e-09)		2	608	+	all_lung(29;0.00344)		47					B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Silent	SNP	ENST00000371015.1	37	c.141G>T	CCDS13480.1																																																																																				PASS	0.572	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079923.3	NM_080672		23	118	23	118	---	---	---	---
COL20A1	57642	broad.mit.edu	37	20	61939981	61939981	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr20:61939981C>T	ENST00000358894.6	+	8	963	c.863C>T	c.(862-864)aCg>aTg	p.T288M	COL20A1_ENST00000435874.1_Missense_Mutation_p.T295M|COL20A1_ENST00000422202.1_Missense_Mutation_p.T295M|COL20A1_ENST00000326996.6_Missense_Mutation_p.T288M	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	288	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)		p.T288M(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ATTCTGGTGACGGACGGCAAG	0.667																																						uc011aau.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(862-864)ACG>ATG		collagen, type XX, alpha 1							24.0	29.0	27.0					20																	61939981		2096	4208	6304	SO:0001583	missense	57642				cell adhesion	collagen|extracellular space	structural molecule activity	g.chr20:61939981C>T	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.863C>T	20.37:g.61939981C>T	ENSP00000351767:p.Thr288Met					COL20A1_uc011aav.1_Missense_Mutation_p.T109M	p.T288M	NM_020882	NP_065933	Q9P218	COKA1_HUMAN			8	963	+	all_cancers(38;1.39e-10)		288			VWFA.		Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Missense_Mutation	SNP	ENST00000358894.6	37	c.863C>T	CCDS46628.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.346793	0.61073	.	.	ENSG00000101203	ENST00000358894;ENST00000326996;ENST00000435874;ENST00000422202	D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37	4.07	4.07	0.47477	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.96374	0.8817	H	0.96720	3.87	0.49389	D	0.999782	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.98111	1.0420	10	0.87932	D	0	.	16.2463	0.82446	0.0:1.0:0.0:0.0	.	295;288	Q9P218-2;Q9P218	.;COKA1_HUMAN	M	288;288;295;295	ENSP00000351767:T288M;ENSP00000323077:T288M;ENSP00000408690:T295M;ENSP00000414753:T295M	ENSP00000323077:T288M	T	+	2	0	COL20A1	61410426	1.000000	0.71417	0.973000	0.42090	0.051000	0.14879	6.565000	0.73974	1.982000	0.57802	0.467000	0.42956	ACG		PASS	0.667	COL20A1-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000144595.2	NM_020882		6	18	6	18	---	---	---	---
BTG3	10950	broad.mit.edu	37	21	18977217	18977217	+	Missense_Mutation	SNP	T	T	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr21:18977217T>A	ENST00000348354.6	-	3	528	c.272A>T	c.(271-273)gAg>gTg	p.E91V	BTG3_ENST00000339775.6_Missense_Mutation_p.E91V	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	91					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)		p.E91V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		GAGAGTGAGCTCCTTTGGCAA	0.453																																						uc002ykk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(271-273)GAG>GTG		B-cell translocation gene 3 isoform b							109.0	97.0	101.0					21																	18977217		2203	4300	6503	SO:0001583	missense	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18977217T>A	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.272A>T	21.37:g.18977217T>A	ENSP00000284879:p.Glu91Val					BTG3_uc002ykl.2_Missense_Mutation_p.E91V	p.E91V	NM_006806	NP_006797	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	3	532	-			91					D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	c.272A>T	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.665452	0.88251	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	5.45	5.45	0.79879	Anti-proliferative protein (4);	0.103418	0.64402	D	0.000006	D	0.84302	0.5442	M	0.89968	3.075	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.994	D	0.87487	0.2424	9	0.87932	D	0	-20.8722	14.1048	0.65080	0.0:0.0:0.0:1.0	.	91;91	Q14201-2;Q14201	.;BTG3_HUMAN	V	91	.	ENSP00000344609:E91V	E	-	2	0	BTG3	17899088	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.928000	0.75846	2.371000	0.80710	0.533000	0.62120	GAG		PASS	0.453	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		27	30	27	30	---	---	---	---
BTG3	10950	broad.mit.edu	37	21	18977219	18977219	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr21:18977219C>A	ENST00000348354.6	-	3	526	c.270G>T	c.(268-270)aaG>aaT	p.K90N	BTG3_ENST00000339775.6_Missense_Mutation_p.K90N	NM_006806.4	NP_006797.3	Q14201	BTG3_HUMAN	BTG family, member 3	90					negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)	cytoplasm (GO:0005737)		p.K90N(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		GAGTGAGCTCCTTTGGCAAGC	0.453																																						uc002ykk.2																			1	Substitution - Missense(1)		lung(1)		0						c.(268-270)AAG>AAT		B-cell translocation gene 3 isoform b							109.0	97.0	101.0					21																	18977219		2203	4300	6503	SO:0001583	missense	10950				negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm		g.chr21:18977219C>A	D64110	CCDS13569.1, CCDS46636.1	21q21.1	2006-12-16			ENSG00000154640	ENSG00000154640			1132	protein-coding gene	gene with protein product		605674				9632145	Standard	NM_006806		Approved	ANA, tob55	uc002ykk.3	Q14201	OTTHUMG00000074501	ENST00000348354.6:c.270G>T	21.37:g.18977219C>A	ENSP00000284879:p.Lys90Asn					BTG3_uc002ykl.2_Missense_Mutation_p.K90N	p.K90N	NM_006806	NP_006797	Q14201	BTG3_HUMAN		Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)	3	530	-			90					D3DSC4|Q53XV1|Q96ET7	Missense_Mutation	SNP	ENST00000348354.6	37	c.270G>T	CCDS13569.1	.	.	.	.	.	.	.	.	.	.	C	19.20	3.781755	0.70222	.	.	ENSG00000154640	ENST00000339775;ENST00000348354	.	.	.	5.45	4.56	0.56223	Anti-proliferative protein (3);	0.273612	0.36303	N	0.002671	T	0.52092	0.1713	L	0.33485	1.01	0.42793	D	0.993908	D;P	0.57257	0.979;0.955	P;B	0.53313	0.723;0.381	T	0.52668	-0.8545	9	0.41790	T	0.15	-20.3511	12.5952	0.56465	0.0:0.9181:0.0:0.0819	.	90;90	Q14201-2;Q14201	.;BTG3_HUMAN	N	90	.	ENSP00000344609:K90N	K	-	3	2	BTG3	17899090	0.991000	0.36638	1.000000	0.80357	0.998000	0.95712	0.332000	0.19751	1.627000	0.50400	0.655000	0.94253	AAG		PASS	0.453	BTG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158196.1	NM_006806		28	28	28	28	---	---	---	---
GRIK1	2897	broad.mit.edu	37	21	31015280	31015280	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr21:31015280C>G	ENST00000399907.1	-	7	1375	c.964G>C	c.(964-966)Gct>Cct	p.A322P	GRIK1_ENST00000399914.1_Missense_Mutation_p.A322P|GRIK1_ENST00000389124.2_Missense_Mutation_p.A322P|GRIK1_ENST00000535441.1_Missense_Mutation_p.A322P|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399909.1_Missense_Mutation_p.A322P|GRIK1_ENST00000327783.4_Missense_Mutation_p.A322P|GRIK1_ENST00000389125.3_Missense_Mutation_p.A322P|GRIK1_ENST00000309434.7_Missense_Mutation_p.A322P|GRIK1_ENST00000399913.1_Missense_Mutation_p.A322P	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	322					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.A322P(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TACATCAGAGCCGCTTCAGTC	0.517																																						uc002yno.1																			2	Substitution - Missense(2)		lung(2)	large_intestine(1)|ovary(1)|skin(1)	3						c.(964-966)GCT>CCT		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						115.0	101.0	106.0					21																	31015280		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:31015280C>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.964G>C	21.37:g.31015280C>G	ENSP00000382791:p.Ala322Pro					GRIK1_uc002ynn.2_Missense_Mutation_p.A322P|GRIK1_uc011acs.1_Missense_Mutation_p.A322P|GRIK1_uc011act.1_Missense_Mutation_p.A266P|GRIK1_uc010glq.1_Missense_Mutation_p.A180P|GRIK1_uc002ynr.2_Missense_Mutation_p.A322P	p.A322P	NM_000830	NP_000821	P39086	GRIK1_HUMAN			7	1428	-			322			Extracellular (Potential).		Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.964G>C	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	34	5.368813	0.95900	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000541508;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	D;D;D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.33	5.33	0.75918	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.94195	0.8137	M	0.91140	3.18	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.85130	0.99;0.99;0.997;0.99;0.99;0.982	D	0.94963	0.8110	10	0.87932	D	0	.	18.8006	0.92015	0.0:1.0:0.0:0.0	.	322;322;322;322;322;322	E7EPY9;E9PD61;E7EPZ0;B7Z3V7;P39086;P39086-2	.;.;.;.;GRIK1_HUMAN;.	P	322;322;322;322;322;266;322;322;322;322	ENSP00000327687:A322P;ENSP00000373777:A322P;ENSP00000382797:A322P;ENSP00000382798:A322P;ENSP00000446326:A322P;ENSP00000373776:A322P;ENSP00000382791:A322P;ENSP00000382793:A322P;ENSP00000311646:A322P	ENSP00000311646:A322P	A	-	1	0	GRIK1	29937151	1.000000	0.71417	0.996000	0.52242	0.980000	0.70556	7.272000	0.78516	2.768000	0.95171	0.655000	0.94253	GCT		PASS	0.517	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			54	55	54	55	---	---	---	---
MRPS6	64968	broad.mit.edu	37	21	35514721	35514721	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr21:35514721G>T	ENST00000399312.2	+	3	377	c.199G>T	c.(199-201)Gat>Tat	p.D67Y	MRPS6_ENST00000482679.1_3'UTR|AP000320.7_ENST00000362077.4_RNA	NM_032476.3	NP_115865.1	P82932	RT06_HUMAN	mitochondrial ribosomal protein S6	67					translation (GO:0006412)	mitochondrion (GO:0005739)|small ribosomal subunit (GO:0015935)	rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)	p.D67Y(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|pancreas(1)|skin(1)	6						TTTCTTGGTGGATTTTTATGC	0.383																																						uc002ytp.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(199-201)GAT>TAT		mitochondrial ribosomal protein S6							100.0	95.0	96.0					21																	35514721		2203	4300	6503	SO:0001583	missense	64968				translation	mitochondrion|small ribosomal subunit	rRNA binding|structural constituent of ribosome	g.chr21:35514721G>T	AB051347	CCDS33548.1	21q22.11	2012-09-13	2002-06-20		ENSG00000243927	ENSG00000243927		"""Mitochondrial ribosomal proteins / small subunits"""	14051	protein-coding gene	gene with protein product		611973	"""chromosome 21 open reading frame 101"""	C21orf101			Standard	NM_032476		Approved	MRP-S6, RPMS6	uc002ytp.2	P82932	OTTHUMG00000065820	ENST00000399312.2:c.199G>T	21.37:g.35514721G>T	ENSP00000382250:p.Asp67Tyr						p.D67Y	NM_032476	NP_115865	P82932	RT06_HUMAN			3	377	+			67					B2R573|Q96Q64|Q9BSK8|Q9BW89	Missense_Mutation	SNP	ENST00000399312.2	37	c.199G>T	CCDS33548.1	.	.	.	.	.	.	.	.	.	.	G	18.06	3.539993	0.65085	.	.	ENSG00000243927	ENST00000399312	.	.	.	5.55	5.55	0.83447	Translation elongation factor EF1B/ribosomal protein S6 (1);	0.000000	0.64402	U	0.000004	T	0.66157	0.2761	L	0.49640	1.575	0.58432	D	0.999999	D	0.89917	1.0	D	0.69479	0.964	T	0.60089	-0.7331	9	0.02654	T	1	-4.421	16.9868	0.86341	0.0:0.0:1.0:0.0	.	67	P82932	RT06_HUMAN	Y	67	.	ENSP00000382250:D67Y	D	+	1	0	MRPS6	34436591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.503000	0.66962	2.610000	0.88304	0.591000	0.81541	GAT		PASS	0.383	MRPS6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000141033.1	NM_032476		40	38	40	38	---	---	---	---
DSCAM	1826	broad.mit.edu	37	21	41414427	41414427	+	Nonsense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr21:41414427C>A	ENST00000400454.1	-	32	6034	c.5557G>T	c.(5557-5559)Gag>Tag	p.E1853*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1853					cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.E1853*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCGTGTACTCATTTGTCCCT	0.537																																					Melanoma(134;970 1778 1785 21664 32388)	uc002yyq.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(6)|skin(4)|upper_aerodigestive_tract(1)	11						c.(5557-5559)GAG>TAG		Down syndrome cell adhesion molecule isoform							192.0	185.0	187.0					21																	41414427		2116	4227	6343	SO:0001587	stop_gained	1826				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding	g.chr21:41414427C>A	AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5557G>T	21.37:g.41414427C>A	ENSP00000383303:p.Glu1853*					DSCAM_uc002yyr.1_RNA	p.E1853*	NM_001389	NP_001380	O60469	DSCAM_HUMAN			32	6009	-		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)	1853			Cytoplasmic (Potential).		O60468	Nonsense_Mutation	SNP	ENST00000400454.1	37	c.5557G>T	CCDS42929.1	.	.	.	.	.	.	.	.	.	.	c	45	11.511012	0.99570	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	.	.	.	5.26	5.26	0.73747	.	0.054494	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	18.8769	0.92341	0.0:1.0:0.0:0.0	.	.	.	.	X	1853;1605	.	ENSP00000383303:E1853X	E	-	1	0	DSCAM	40336297	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	7.726000	0.84824	2.458000	0.83093	0.655000	0.94253	GAG		PASS	0.537	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195029.1	NM_001389		82	73	82	73	---	---	---	---
PRDM15	63977	broad.mit.edu	37	21	43256623	43256623	+	Missense_Mutation	SNP	C	C	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr21:43256623C>A	ENST00000269844.3	-	16	2345	c.2235G>T	c.(2233-2235)aaG>aaT	p.K745N	PRDM15_ENST00000398548.1_Missense_Mutation_p.K416N|PRDM15_ENST00000447207.2_Missense_Mutation_p.K379N|PRDM15_ENST00000538201.1_Missense_Mutation_p.K379N|PRDM15_ENST00000422911.1_Missense_Mutation_p.K416N	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	745					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)	p.K745N(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TCTGGAAGATCTTGCTGCAGA	0.622																																						uc002yzq.1																			1	Substitution - Missense(1)		lung(1)		0						c.(2233-2235)AAG>AAT		PR domain containing 15 isoform 1							168.0	156.0	160.0					21																	43256623		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43256623C>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.2235G>T	21.37:g.43256623C>A	ENSP00000269844:p.Lys745Asn					PRDM15_uc002yzo.2_Missense_Mutation_p.K416N|PRDM15_uc002yzp.2_Missense_Mutation_p.K416N|PRDM15_uc002yzr.1_Missense_Mutation_p.K416N	p.K745N	NM_022115	NP_071398	P57071	PRD15_HUMAN			16	2346	-			745			C2H2-type 2.		E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.2235G>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981667	0.74474	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844;ENST00000380489	T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13	4.75	0.831	0.18860	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.73682	0.3618	M	0.84773	2.715	0.44843	D	0.997858	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.73525	-0.3955	9	0.87932	D	0	-28.1116	8.0651	0.30657	0.0:0.5885:0.0:0.4115	.	745;416;416	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	N	416;416;379;379;745;379	ENSP00000408592:K416N;ENSP00000381556:K416N;ENSP00000444044:K379N;ENSP00000390245:K379N;ENSP00000269844:K745N	ENSP00000269844:K745N	K	-	3	2	PRDM15	42129692	0.979000	0.34478	0.995000	0.50966	0.978000	0.69477	1.208000	0.32345	0.435000	0.26365	0.563000	0.77884	AAG		PASS	0.622	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		69	66	69	66	---	---	---	---
PWP2	5822	broad.mit.edu	37	21	45547881	45547881	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr21:45547881G>A	ENST00000291576.7	+	18	2336	c.2209G>A	c.(2209-2211)Gac>Aac	p.D737N	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	737					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)	p.D737N(1)		cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CGTGCTCTTTGACCCGTTTGA	0.627																																						uc002zeb.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(2209-2211)GAC>AAC		PWP2 periodic tryptophan protein homolog							42.0	40.0	41.0					21																	45547881		2203	4299	6502	SO:0001583	missense	5822					cytoplasm|nucleolus	signal transducer activity	g.chr21:45547881G>A		CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2209G>A	21.37:g.45547881G>A	ENSP00000291576:p.Asp737Asn						p.D737N	NM_005049	NP_005040	Q15269	PWP2_HUMAN		STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)	18	2299	+			737			WD 14.		B2RAG8|Q96A77	Missense_Mutation	SNP	ENST00000291576.7	37	c.2209G>A	CCDS33579.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076666	0.76415	.	.	ENSG00000241945	ENST00000291576	T	0.64260	-0.09	4.47	4.47	0.54385	WD40/YVTN repeat-like-containing domain (1);	0.046408	0.85682	D	0.000000	T	0.71392	0.3334	M	0.89534	3.04	0.80722	D	1	P	0.45768	0.866	B	0.42361	0.385	T	0.81024	-0.1120	10	0.87932	D	0	-0.1201	16.1927	0.82004	0.0:0.0:1.0:0.0	.	737	Q15269	PWP2_HUMAN	N	737	ENSP00000291576:D737N	ENSP00000291576:D737N	D	+	1	0	PWP2	44372309	1.000000	0.71417	0.941000	0.38009	0.108000	0.19459	8.839000	0.92120	2.416000	0.81992	0.655000	0.94253	GAC		PASS	0.627	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195736.3	NM_005049		30	37	30	37	---	---	---	---
KRTAP12-4	386684	broad.mit.edu	37	21	46074512	46074512	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr21:46074512G>C	ENST00000391618.1	-	1	64	c.20C>G	c.(19-21)tCt>tGt	p.S7C	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	7						keratin filament (GO:0045095)		p.S7C(1)		lung(4)|ovary(1)|prostate(1)	6						GCAGCCCGAAGAGTGGCTGGT	0.662																																						uc002zfs.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(19-21)TCT>TGT		keratin associated protein 12-4							11.0	16.0	15.0					21																	46074512		2033	4173	6206	SO:0001583	missense	386684					keratin filament		g.chr21:46074512G>C	AB076360	CCDS42963.1	21q22.3	2006-03-13			ENSG00000212933	ENSG00000212933		"""Keratin associated proteins"""	20532	protein-coding gene	gene with protein product							Standard	NM_198698		Approved	KRTAP12.4	uc002zfs.1	P60329	OTTHUMG00000057633	ENST00000391618.1:c.20C>G	21.37:g.46074512G>C	ENSP00000375476:p.Ser7Cys					C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron	p.S7C	NM_198698	NP_941971	P60329	KR124_HUMAN			1	65	-			7					Q08AF5	Missense_Mutation	SNP	ENST00000391618.1	37	c.20C>G	CCDS42963.1	.	.	.	.	.	.	.	.	.	.	g	10.26	1.301047	0.23650	.	.	ENSG00000212933	ENST00000391618	T	0.02345	4.33	4.93	4.04	0.47022	.	.	.	.	.	T	0.13798	0.0334	M	0.79011	2.435	0.09310	N	1	D	0.89917	1.0	D	0.74023	0.982	T	0.03212	-1.1060	9	0.62326	D	0.03	.	10.9041	0.47069	0.0:0.0:0.8118:0.1882	.	7	P60329	KR124_HUMAN	C	7	ENSP00000375476:S7C	ENSP00000375476:S7C	S	-	2	0	KRTAP12-4	44898940	0.009000	0.17119	0.005000	0.12908	0.000000	0.00434	1.320000	0.33666	1.177000	0.42855	-0.518000	0.04402	TCT		PASS	0.662	KRTAP12-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128036.1			11	7	11	7	---	---	---	---
DIP2A	23181	broad.mit.edu	37	21	47952109	47952109	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr21:47952109G>C	ENST00000417564.2	+	10	1285	c.1264G>C	c.(1264-1266)Gag>Cag	p.E422Q	DIP2A_ENST00000318711.7_Missense_Mutation_p.E423Q|DIP2A_ENST00000466639.1_Missense_Mutation_p.E379Q|DIP2A_ENST00000427143.2_Missense_Mutation_p.E358Q|DIP2A_ENST00000457905.3_Missense_Mutation_p.E422Q|DIP2A_ENST00000400274.1_Missense_Mutation_p.E418Q|DIP2A_ENST00000435722.3_Missense_Mutation_p.E422Q			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	422					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.E358Q(1)|p.E422Q(1)|p.E423Q(1)		cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCTCCTGGCAGAGCTGGTTCC	0.478																																						uc002zjo.2																			3	Substitution - Missense(3)		lung(3)	ovary(2)	2						c.(1264-1266)GAG>CAG		disco-interacting protein 2A isoform a							146.0	147.0	147.0					21																	47952109		1989	4157	6146	SO:0001583	missense	23181				multicellular organismal development	nucleus	catalytic activity|transcription factor binding	g.chr21:47952109G>C	AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.1264G>C	21.37:g.47952109G>C	ENSP00000392066:p.Glu422Gln					DIP2A_uc011afy.1_Missense_Mutation_p.E358Q|DIP2A_uc011afz.1_Missense_Mutation_p.E418Q|DIP2A_uc002zjl.2_Missense_Mutation_p.E422Q|DIP2A_uc002zjm.2_Missense_Mutation_p.E422Q|DIP2A_uc010gql.2_Missense_Mutation_p.E379Q|DIP2A_uc002zjn.2_Missense_Mutation_p.E422Q|DIP2A_uc002zjp.1_Missense_Mutation_p.E167Q	p.E422Q	NM_015151	NP_055966	Q14689	DIP2A_HUMAN		Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)	10	1447	+	Breast(49;0.0933)		422					A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	ENST00000417564.2	37	c.1264G>C	CCDS46655.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.819980	0.90873	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.10668	2.85;2.85;2.85;2.85;2.85;2.85;2.85	4.8	4.8	0.61643	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.36799	0.0980	M	0.80982	2.52	0.80722	D	1	D;P;P;D;P;B	0.89917	0.999;0.562;0.954;1.0;0.723;0.039	D;P;P;D;P;B	0.91635	0.986;0.653;0.765;0.999;0.625;0.058	T	0.20739	-1.0266	10	0.87932	D	0	-35.9449	17.3777	0.87397	0.0:0.0:1.0:0.0	.	423;358;379;422;422;422	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	Q	418;358;423;379;422;379;422;422	ENSP00000383133:E418Q;ENSP00000400528:E358Q;ENSP00000323633:E423Q;ENSP00000393434:E422Q;ENSP00000430249:E379Q;ENSP00000415089:E422Q;ENSP00000392066:E422Q	ENSP00000323633:E423Q	E	+	1	0	DIP2A	46776537	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.537000	0.82033	2.663000	0.90544	0.591000	0.81541	GAG		PASS	0.478	DIP2A-012	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376736.1	NM_015151		23	29	23	29	---	---	---	---
DGCR8	54487	broad.mit.edu	37	22	20079140	20079140	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr22:20079140G>A	ENST00000351989.3	+	6	1918	c.1489G>A	c.(1489-1491)Gca>Aca	p.A497T	DGCR8_ENST00000407755.1_Missense_Mutation_p.A497T|DGCR8_ENST00000383024.2_Missense_Mutation_p.A497T	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	497	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)	p.A497T(1)		NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTGCAAGATGCACCCACAAA	0.463																																						uc002zri.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1489-1491)GCA>ACA		DiGeorge syndrome critical region gene 8							111.0	119.0	116.0					22																	20079140		2203	4300	6503	SO:0001583	missense	54487				primary miRNA processing	cytoplasm|cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding	g.chr22:20079140G>A	AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1489G>A	22.37:g.20079140G>A	ENSP00000263209:p.Ala497Thr					DGCR8_uc010grz.2_Missense_Mutation_p.A497T|DGCR8_uc002zrj.2_Missense_Mutation_p.A140T	p.A497T	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN			6	1839	+	Colorectal(54;0.0993)		497			Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.		B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	ENST00000351989.3	37	c.1489G>A	CCDS13773.1	.	.	.	.	.	.	.	.	.	.	G	24.7	4.558618	0.86231	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.35421	1.35;1.31;1.31	5.05	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.33381	0.0861	L	0.53249	1.67	0.80722	D	1	B;P	0.43094	0.291;0.799	B;B	0.38378	0.072;0.272	T	0.27673	-1.0067	10	0.51188	T	0.08	-10.2941	13.7159	0.62695	0.0772:0.0:0.9228:0.0	.	497;497	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	T	497	ENSP00000263209:A497T;ENSP00000372488:A497T;ENSP00000384726:A497T	ENSP00000263209:A497T	A	+	1	0	DGCR8	18459140	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	7.390000	0.79816	2.599000	0.87857	0.591000	0.81541	GCA		PASS	0.463	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318654.1			100	91	100	91	---	---	---	---
TRMT2A	27037	broad.mit.edu	37	22	20100675	20100675	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr22:20100675G>A	ENST00000252136.7	-	10	1903	c.1515C>T	c.(1513-1515)ctC>ctT	p.L505L	AC006547.8_ENST00000412713.1_RNA|TRMT2A_ENST00000492988.1_5'UTR|TRMT2A_ENST00000439169.2_Silent_p.L523L|TRMT2A_ENST00000404751.3_Silent_p.L505L|TRMT2A_ENST00000403707.3_Silent_p.L505L|RANBP1_ENST00000430524.1_5'Flank	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	505					RNA processing (GO:0006396)		nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)	p.L505L(1)		breast(2)|endometrium(2)|lung(5)	9						GGATGGCCACGAGGTGCTGGG	0.612																																						uc002zrk.1																			1	Substitution - coding silent(1)		lung(1)	breast(1)	1						c.(1513-1515)CTC>CTT		HpaII tiny fragments locus 9C							49.0	53.0	51.0					22																	20100675		2203	4300	6503	SO:0001819	synonymous_variant	27037				RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity	g.chr22:20100675G>A	BC017184	CCDS13774.1, CCDS58793.1	22q11.21	2014-02-12	2012-06-12		ENSG00000099899	ENSG00000099899			24974	protein-coding gene	gene with protein product	"""HpaII tiny fragments locus 9C"""	611151				9417108, 18075473	Standard	NM_022727		Approved	HTF9C	uc002zrl.2	Q8IZ69	OTTHUMG00000150454	ENST00000252136.7:c.1515C>T	22.37:g.20100675G>A						TRMT2A_uc002zrl.1_Silent_p.L505L|TRMT2A_uc002zrm.1_Silent_p.L327L|TRMT2A_uc002zrn.1_Silent_p.L523L	p.L505L	NM_182984	NP_892029	Q8IZ69	TRM2A_HUMAN			11	1730	-			505					D3DX25|Q32P57|Q96ME6|Q9H732	Silent	SNP	ENST00000252136.7	37	c.1515C>T	CCDS13774.1																																																																																				PASS	0.612	TRMT2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318168.3	NM_022727		36	49	36	49	---	---	---	---
PRAME	23532	broad.mit.edu	37	22	22890745	22890745	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr22:22890745C>G	ENST00000398741.1	-	6	1580	c.1274G>C	c.(1273-1275)aGt>aCt	p.S425T	PRAME_ENST00000402697.1_Missense_Mutation_p.S425T|PRAME_ENST00000539862.1_Missense_Mutation_p.S409T|PRAME_ENST00000424204.2_Missense_Mutation_p.S409T|PRAME_ENST00000398743.2_Missense_Mutation_p.S425T|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000405655.3_Missense_Mutation_p.S425T|PRAME_ENST00000543184.1_Missense_Mutation_p.S425T	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	425	Mediates interaction with RARA.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)	p.S425T(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CTGCAGGAGACTCTGCAAGGC	0.557																																					Melanoma(73;1707 1838 15168 27201)	uc002zwf.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)	2						c.(1273-1275)AGT>ACT		preferentially expressed antigen in melanoma							101.0	93.0	96.0					22																	22890745		2203	4300	6503	SO:0001583	missense	23532				apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	g.chr22:22890745C>G	U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1274G>C	22.37:g.22890745C>G	ENSP00000381726:p.Ser425Thr					LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.S409T|PRAME_uc010gtr.2_Missense_Mutation_p.S425T|PRAME_uc002zwg.2_Missense_Mutation_p.S425T|PRAME_uc002zwh.2_Missense_Mutation_p.S425T|PRAME_uc002zwi.2_Missense_Mutation_p.S425T|PRAME_uc002zwj.2_Missense_Mutation_p.S425T|PRAME_uc002zwk.2_Missense_Mutation_p.S425T	p.S425T	NM_206956	NP_996839	P78395	PRAME_HUMAN		READ - Rectum adenocarcinoma(21;0.0649)	5	1430	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)	425			LRR 4.|Mediates interaction with RARA.		B2R6Y7|O43481|Q8IXN8	Missense_Mutation	SNP	ENST00000398741.1	37	c.1274G>C	CCDS13801.1	.	.	.	.	.	.	.	.	.	.	C	4.237	0.042906	0.08196	.	.	ENSG00000185686	ENST00000398743;ENST00000543184;ENST00000398741;ENST00000405655;ENST00000539862;ENST00000402697;ENST00000424204	T;T;T;T;T;T;T	0.07908	3.15;3.15;3.15;3.15;3.15;3.15;3.15	3.3	-3.38	0.04883	.	1.055210	0.07362	N	0.884333	T	0.09730	0.0239	L	0.41573	1.285	0.09310	N	1	P	0.39940	0.696	P	0.44673	0.457	T	0.29852	-0.9998	10	0.59425	D	0.04	.	7.6061	0.28103	0.1314:0.6672:0.0:0.2014	.	425	P78395	PRAME_HUMAN	T	425;425;425;425;409;425;409	ENSP00000381728:S425T;ENSP00000445675:S425T;ENSP00000381726:S425T;ENSP00000384343:S425T;ENSP00000445097:S409T;ENSP00000385198:S425T;ENSP00000407342:S409T	ENSP00000381726:S425T	S	-	2	0	PRAME	21220745	0.192000	0.23301	0.011000	0.14972	0.000000	0.00434	-0.189000	0.09629	-1.179000	0.02737	-1.193000	0.01689	AGT		PASS	0.557	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000321644.1	NM_206953		9	53	9	53	---	---	---	---
SEZ6L	23544	broad.mit.edu	37	22	26769434	26769434	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr22:26769434G>A	ENST00000248933.6	+	14	2907	c.2812G>A	c.(2812-2814)Gaa>Aaa	p.E938K	SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000494013.1_Intron|SEZ6L_ENST00000529632.2_Intron|SEZ6L_ENST00000402979.1_Missense_Mutation_p.E711K|SEZ6L_ENST00000404234.3_Missense_Mutation_p.E938K|SEZ6L_ENST00000343706.4_Intron			Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	938					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)		p.E938K(1)		breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGACAGTTTTGAACATGCTTT	0.323																																						uc003acb.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|pancreas(1)	6						c.(2812-2814)GAA>AAA		seizure related 6 homolog (mouse)-like							120.0	112.0	115.0					22																	26769434		2202	4299	6501	SO:0001583	missense	23544					endoplasmic reticulum membrane|integral to membrane		g.chr22:26769434G>A	AL050253	CCDS13833.1, CCDS54508.1, CCDS54510.1, CCDS54511.1, CCDS74837.1	22q12.1	2008-05-14	2001-11-28		ENSG00000100095	ENSG00000100095			10763	protein-coding gene	gene with protein product		607021	"""seizure related gene 6 (mouse)-like"""				Standard	NM_021115		Approved		uc003acb.3	Q9BYH1	OTTHUMG00000150870	ENST00000248933.6:c.2812G>A	22.37:g.26769434G>A	ENSP00000248933:p.Glu938Lys					SEZ6L_uc003acc.2_Missense_Mutation_p.E938K|SEZ6L_uc011akc.1_Intron|SEZ6L_uc003acd.2_Intron|SEZ6L_uc011akd.1_Intron|SEZ6L_uc003ace.2_Intron|SEZ6L_uc003acf.1_Missense_Mutation_p.E711K|SEZ6L_uc010gvc.1_Intron|SEZ6L_uc011ake.1_Intron	p.E938K	NM_021115	NP_066938	Q9BYH1	SE6L1_HUMAN			14	2968	+			938			Extracellular (Potential).		A0AUW7|B0QYG4|B0QYG5|B7ZLJ6|G8JLP3|O95917|Q5THY5|Q6IBZ4|Q6UXD4|Q9NUI3|Q9NUI4|Q9NUI5|Q9Y2E1|Q9Y3J6	Missense_Mutation	SNP	ENST00000248933.6	37	c.2812G>A	CCDS13833.1	.	.	.	.	.	.	.	.	.	.	G	15.01	2.705835	0.48412	.	.	ENSG00000100095	ENST00000404234;ENST00000248933;ENST00000402979	T;T;T	0.23147	1.93;1.94;1.92	5.4	5.4	0.78164	.	0.106083	0.40640	N	0.001057	T	0.12347	0.0300	N	0.08118	0	0.80722	D	1	P;P	0.35328	0.495;0.495	B;B	0.27170	0.077;0.077	T	0.19386	-1.0307	10	0.14656	T	0.56	.	16.2687	0.82603	0.0:0.0:1.0:0.0	.	938;938	B0QYG3;Q9BYH1	.;SE6L1_HUMAN	K	938;938;711	ENSP00000384772:E938K;ENSP00000248933:E938K;ENSP00000384733:E711K	ENSP00000248933:E938K	E	+	1	0	SEZ6L	25099434	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.813000	0.69201	2.705000	0.92388	0.650000	0.86243	GAA		PASS	0.323	SEZ6L-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320359.3			33	48	33	48	---	---	---	---
RFPL3	10738	broad.mit.edu	37	22	32756478	32756478	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr22:32756478G>T	ENST00000249007.4	+	2	818	c.613G>T	c.(613-615)Ggg>Tgg	p.G205W	RFPL3S_ENST00000400234.1_3'UTR|RFPL3S_ENST00000382084.4_3'UTR|RFPL3_ENST00000397468.1_Missense_Mutation_p.G176W|RFPL3S_ENST00000461833.1_5'Flank|RFPL3_ENST00000382088.3_Missense_Mutation_p.G176W	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	205	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)	p.G205W(1)|p.G176W(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TCACTGCAAAGGGAAGATCCA	0.567																																						uc003amj.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(613-615)GGG>TGG		ret finger protein-like 3 isoform 1							120.0	116.0	117.0					22																	32756478		2203	4300	6503	SO:0001583	missense	10738						zinc ion binding	g.chr22:32756478G>T	AJ010232	CCDS13904.1, CCDS43011.1	22q12	2006-04-25			ENSG00000128276	ENSG00000128276			9980	protein-coding gene	gene with protein product		605970				10508838	Standard	NM_006604		Approved		uc010gwn.3	O75679	OTTHUMG00000030290	ENST00000249007.4:c.613G>T	22.37:g.32756478G>T	ENSP00000249007:p.Gly205Trp					RFPL3_uc010gwn.2_Missense_Mutation_p.G176W|RFPL3S_uc003amk.2_RNA|RFPL3S_uc003aml.2_RNA	p.G205W	NM_001098535	NP_001092005	O75679	RFPL3_HUMAN			2	818	+			205			B30.2/SPRY.		A2A279|Q6IC03|Q6IC04|Q6NSX3|Q8N5R4	Missense_Mutation	SNP	ENST00000249007.4	37	c.613G>T	CCDS43011.1	.	.	.	.	.	.	.	.	.	.	G	12.41	1.929760	0.34096	.	.	ENSG00000128276	ENST00000397468;ENST00000249007;ENST00000382088	T;T;T	0.67698	-0.28;-0.28;-0.28	1.36	1.36	0.22044	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.81153	0.4763	M	0.88640	2.97	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80502	-0.1354	9	0.59425	D	0.04	.	8.6203	0.33857	0.0:0.0:1.0:0.0	.	205	O75679	RFPL3_HUMAN	W	176;205;176	ENSP00000380609:G176W;ENSP00000249007:G205W;ENSP00000371520:G176W	ENSP00000249007:G205W	G	+	1	0	RFPL3	31086478	1.000000	0.71417	0.005000	0.12908	0.007000	0.05969	6.338000	0.72963	0.630000	0.30394	0.205000	0.17691	GGG		PASS	0.567	RFPL3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000075172.3	NM_006604		41	60	41	60	---	---	---	---
CELSR1	9620	broad.mit.edu	37	22	46932349	46932349	+	Missense_Mutation	SNP	C	C	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr22:46932349C>G	ENST00000262738.3	-	1	718	c.719G>C	c.(718-720)aGa>aCa	p.R240T	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.R240T	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	240					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)	p.R240T(1)		breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CAGGCTCCCTCTGCCGCTCGT	0.711																																						uc003bhw.1																			1	Substitution - Missense(1)		lung(1)	lung(4)|breast(4)|pancreas(2)|skin(1)	11						c.(718-720)AGA>ACA		cadherin EGF LAG seven-pass G-type receptor 1							20.0	15.0	17.0					22																	46932349		2153	4241	6394	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46932349C>G	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.719G>C	22.37:g.46932349C>G	ENSP00000262738:p.Arg240Thr						p.R240T	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	719	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	240			Extracellular (Potential).		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.719G>C	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	c	5.826	0.336717	0.11013	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.67523	-0.27;0.04	3.39	3.39	0.38822	.	0.167762	0.36591	U	0.002512	T	0.40670	0.1126	N	0.08118	0	0.09310	N	1	B	0.22480	0.07	B	0.18871	0.023	T	0.20207	-1.0282	10	0.41790	T	0.15	.	5.6863	0.17805	0.0:0.7489:0.0:0.2511	.	240	Q9NYQ6	CELR1_HUMAN	T	240	ENSP00000262738:R240T;ENSP00000379293:R240T	ENSP00000262738:R240T	R	-	2	0	CELSR1	45311013	0.239000	0.23836	0.490000	0.27465	0.018000	0.09664	1.494000	0.35616	1.454000	0.47793	0.291000	0.19559	AGA		PASS	0.711	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		9	14	9	14	---	---	---	---
MXRA5	25878	broad.mit.edu	37	X	3235316	3235316	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chrX:3235316G>T	ENST00000217939.6	-	6	6560	c.6406C>A	c.(6406-6408)Cag>Aag	p.Q2136K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2136	Ig-like C2-type 5.					extracellular vesicular exosome (GO:0070062)		p.Q2136K(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				ACGTTCAGCTGCACCGTCCTG	0.687																																						uc004crg.3																			2	Substitution - Missense(2)		lung(2)	ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6406-6408)CAG>AAG		adlican precursor							35.0	27.0	30.0					X																	3235316		2203	4298	6501	SO:0001583	missense	25878					extracellular region		g.chrX:3235316G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.6406C>A	X.37:g.3235316G>T	ENSP00000217939:p.Gln2136Lys						p.Q2136K	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	6563	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2136			Ig-like C2-type 5.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.6406C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	0.011	-1.708422	0.00712	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.65916	-0.18	3.48	2.59	0.31030	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.744519	0.10962	U	0.614868	T	0.39627	0.1085	N	0.11927	0.2	0.09310	N	1	P	0.41345	0.746	B	0.41988	0.372	T	0.14254	-1.0479	10	0.19147	T	0.46	.	3.0185	0.06067	0.1025:0.1747:0.5397:0.1831	.	2136	Q9NR99	MXRA5_HUMAN	K	2136	ENSP00000217939:Q2136K	ENSP00000217939:Q2136K	Q	-	1	0	MXRA5	3245316	0.412000	0.25392	0.251000	0.24312	0.091000	0.18340	2.965000	0.49200	0.333000	0.23563	0.597000	0.82753	CAG		PASS	0.687	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		9	3	9	3	---	---	---	---
DMD	1756	broad.mit.edu	37	X	32591903	32591903	+	Missense_Mutation	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chrX:32591903G>T	ENST00000357033.4	-	14	1869	c.1663C>A	c.(1663-1665)Caa>Aaa	p.Q555K	DMD_ENST00000288447.4_Missense_Mutation_p.Q547K|DMD_ENST00000378677.2_Missense_Mutation_p.Q551K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	555					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.Q551K(1)|p.Q550K(1)|p.Q555K(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGATGTCTTGTAAAAGAACC	0.433																																						uc004dda.1																			3	Substitution - Missense(3)		lung(3)	ovary(3)|pancreas(2)|large_intestine(1)	6	GRCh37	CM050579	DMD	M		c.(1663-1665)CAA>AAA		dystrophin Dp427m isoform							64.0	54.0	57.0					X																	32591903		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32591903G>T	AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1663C>A	X.37:g.32591903G>T	ENSP00000354923:p.Gln555Lys					DMD_uc004dcz.2_Missense_Mutation_p.Q432K|DMD_uc004dcy.1_Missense_Mutation_p.Q551K|DMD_uc004ddb.1_Missense_Mutation_p.Q547K|DMD_uc010ngo.1_Intron|DMD_uc004ddf.2_Missense_Mutation_p.Q547K|DMD_uc010ngp.1_Nonsense_Mutation_p.Y74*|DMD_uc010ngq.1_RNA	p.Q555K	NM_004006	NP_003997	P11532	DMD_HUMAN			14	1907	-		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)	555			Spectrin 2.		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.1663C>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	g	31	5.075038	0.94000	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447;ENST00000447523	T;T;T;D	0.94457	1.28;1.28;1.24;-3.43	5.39	5.39	0.77823	.	0.248535	0.20125	U	0.098716	D	0.97334	0.9128	M	0.80982	2.52	0.80722	D	1	D;P;D;P	0.76494	0.997;0.728;0.999;0.77	D;B;D;B	0.79108	0.987;0.158;0.992;0.245	D	0.97905	1.0305	10	0.72032	D	0.01	.	18.2687	0.90060	0.0:0.0:1.0:0.0	.	547;547;555;551	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	K	547;551;555;555;432;547;103	ENSP00000367948:Q551K;ENSP00000354923:Q555K;ENSP00000288447:Q547K;ENSP00000395904:Q103K	ENSP00000288447:Q547K	Q	-	1	0	DMD	32501824	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.971000	0.93419	2.253000	0.74438	0.534000	0.68092	CAA		PASS	0.433	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006		17	25	17	25	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34149269	34149269	+	Missense_Mutation	SNP	T	T	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chrX:34149269T>C	ENST00000346193.3	-	1	1178	c.1127A>G	c.(1126-1128)cAc>cGc	p.H376R		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	376								p.H376R(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGGCTCCGCGTGGAGACTGGA	0.637																																						uc004ddg.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1126-1128)CAC>CGC		hypothetical protein LOC158724							36.0	37.0	37.0					X																	34149269		2199	4299	6498	SO:0001583	missense	158724							g.chrX:34149269T>C	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1127A>G	X.37:g.34149269T>C	ENSP00000345029:p.His376Arg						p.H376R	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1160	-			376					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1127A>G	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.126692	0.00031	.	.	ENSG00000185448	ENST00000346193	T	0.07908	3.15	0.226	-0.452	0.12205	.	.	.	.	.	T	0.02929	0.0087	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46428	-0.9192	8	0.11485	T	0.65	.	.	.	.	.	376	Q5JRC9	FA47A_HUMAN	R	376	ENSP00000345029:H376R	ENSP00000345029:H376R	H	-	2	0	FAM47A	34059190	0.008000	0.16893	0.001000	0.08648	0.001000	0.01503	-0.994000	0.03716	-0.810000	0.04375	-0.808000	0.03180	CAC		PASS	0.637	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		11	25	11	25	---	---	---	---
FAM47A	158724	broad.mit.edu	37	X	34149330	34149330	+	Missense_Mutation	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chrX:34149330C>T	ENST00000346193.3	-	1	1117	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	356								p.E356K(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTCCAGTCTCGGAAGGCTCC	0.657																																						uc004ddg.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)	5						c.(1066-1068)GAG>AAG		hypothetical protein LOC158724							26.0	27.0	27.0					X																	34149330		2196	4293	6489	SO:0001583	missense	158724							g.chrX:34149330C>T	BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1066G>A	X.37:g.34149330C>T	ENSP00000345029:p.Glu356Lys						p.E356K	NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN			1	1099	-			356					A8K8I9|Q8TAA0	Missense_Mutation	SNP	ENST00000346193.3	37	c.1066G>A	CCDS43926.1	.	.	.	.	.	.	.	.	.	.	c	11.34	1.611044	0.28712	.	.	ENSG00000185448	ENST00000346193	T	0.19806	2.12	0.226	0.226	0.15353	.	.	.	.	.	T	0.11196	0.0273	L	0.34521	1.04	0.09310	N	1	P	0.50819	0.939	B	0.36845	0.234	T	0.25398	-1.0133	8	0.22109	T	0.4	.	.	.	.	.	356	Q5JRC9	FA47A_HUMAN	K	356	ENSP00000345029:E356K	ENSP00000345029:E356K	E	-	1	0	FAM47A	34059251	0.008000	0.16893	0.010000	0.14722	0.010000	0.07245	-0.131000	0.10482	0.283000	0.22279	0.287000	0.19450	GAG		PASS	0.657	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056205.1	NM_203408		9	21	9	21	---	---	---	---
XK	7504	broad.mit.edu	37	X	37587032	37587032	+	Missense_Mutation	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chrX:37587032G>A	ENST00000378616.3	+	3	855	c.652G>A	c.(652-654)Gag>Aag	p.E218K	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group	218					amino acid transport (GO:0006865)|transport (GO:0006810)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.E218K(1)		breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GAGGAGCTTTGAGATTGCCAC	0.458																																						uc004ddq.2																			1	Substitution - Missense(1)		lung(1)		0						c.(652-654)GAG>AAG		membrane transport protein XK							133.0	105.0	114.0					X																	37587032		2202	4300	6502	SO:0001583	missense	7504				amino acid transport	integral to membrane	protein binding|transporter activity	g.chrX:37587032G>A	Z32684	CCDS14241.1	Xp21.1	2014-07-19	2014-06-18		ENSG00000047597	ENSG00000047597		"""Blood group antigens"""	12811	protein-coding gene	gene with protein product	"""Kx antigen"", ""McLeod syndrome"""	314850	"""Kell blood group precursor (McLeod phenotype)"", ""XK, Kell blood group complex subunit (McLeod syndrome)"", ""neuroacanthocytosis"", ""neurocanthocytosis"""	NA, NAC		8004674, 11761473	Standard	NM_021083		Approved	XKR1, Kx, X1k	uc004ddq.3	P51811	OTTHUMG00000033171	ENST00000378616.3:c.652G>A	X.37:g.37587032G>A	ENSP00000367879:p.Glu218Lys						p.E218K	NM_021083	NP_066569	P51811	XK_HUMAN			3	734	+		all_lung(315;0.175)	218			Helical; (Potential).		Q4TTN6|Q8IUK6|Q9UC77	Missense_Mutation	SNP	ENST00000378616.3	37	c.652G>A	CCDS14241.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.977902	0.92982	.	.	ENSG00000047597	ENST00000378616	T	0.64085	-0.08	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.80166	0.4573	M	0.82056	2.57	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78585	-0.2147	10	0.29301	T	0.29	-12.9	18.3277	0.90260	0.0:0.0:1.0:0.0	.	218	P51811	XK_HUMAN	K	218	ENSP00000367879:E218K	ENSP00000367879:E218K	E	+	1	0	XK	37471971	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.367000	0.97148	2.268000	0.75426	0.600000	0.82982	GAG		PASS	0.458	XK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080875.1	NM_021083		27	17	27	17	---	---	---	---
GPRASP2	114928	broad.mit.edu	37	X	101970929	101970929	+	Missense_Mutation	SNP	G	G	C			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chrX:101970929G>C	ENST00000535209.1	+	4	1963	c.1132G>C	c.(1132-1134)Gaa>Caa	p.E378Q	GPRASP2_ENST00000332262.5_Missense_Mutation_p.E378Q|GPRASP2_ENST00000543253.1_Missense_Mutation_p.E378Q			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	378						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)	p.E378Q(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GGTCAAACAAGAACCCAGGTT	0.478																																						uc004ejk.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1132-1134)GAA>CAA		G protein-coupled receptor associated sorting							72.0	70.0	71.0					X																	101970929		2203	4300	6503	SO:0001583	missense	114928					cytoplasm	protein binding	g.chrX:101970929G>C	AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1132G>C	X.37:g.101970929G>C	ENSP00000437394:p.Glu378Gln					GPRASP2_uc004ejl.2_Missense_Mutation_p.E378Q|GPRASP2_uc004ejm.2_Missense_Mutation_p.E378Q|GPRASP2_uc011mrp.1_5'Flank	p.E378Q	NM_138437	NP_612446	Q96D09	GASP2_HUMAN			4	2466	+			378					D3DXA0|Q8NAB4	Missense_Mutation	SNP	ENST00000535209.1	37	c.1132G>C	CCDS14501.1	.	.	.	.	.	.	.	.	.	.	G	11.83	1.754990	0.31046	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.09723	2.95;2.95;2.95	4.44	4.44	0.53790	.	0.304250	0.23768	N	0.044753	T	0.17195	0.0413	L	0.54323	1.7	0.34102	D	0.66198	P	0.52316	0.952	P	0.49140	0.601	T	0.13388	-1.0511	10	0.37606	T	0.19	.	13.9234	0.63948	0.0:0.0:1.0:0.0	.	378	Q96D09	GASP2_HUMAN	Q	378	ENSP00000437872:E378Q;ENSP00000437394:E378Q;ENSP00000339057:E378Q	ENSP00000339057:E378Q	E	+	1	0	GPRASP2	101857585	0.977000	0.34250	0.628000	0.29241	0.279000	0.26890	3.124000	0.50461	2.458000	0.83093	0.600000	0.82982	GAA		PASS	0.478	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057626.2	NM_138437		43	25	43	25	---	---	---	---
TEX13B	56156	broad.mit.edu	37	X	107225187	107225187	+	Silent	SNP	G	G	A			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chrX:107225187G>A	ENST00000302917.1	-	2	263	c.171C>T	c.(169-171)agC>agT	p.S57S		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	57								p.S57S(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TGGGCACCTCGCTGTCCTCCA	0.602																																						uc004enn.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(169-171)AGC>AGT		testis expressed 13B							99.0	91.0	94.0					X																	107225187		2199	4300	6499	SO:0001819	synonymous_variant	56156							g.chrX:107225187G>A	AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.171C>T	X.37:g.107225187G>A							p.S57S	NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN			2	264	-			57					Q5JYF6	Silent	SNP	ENST00000302917.1	37	c.171C>T	CCDS14534.1																																																																																				PASS	0.602	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057857.1			63	43	63	43	---	---	---	---
TENM1	10178	broad.mit.edu	37	X	123870953	123870953	+	Silent	SNP	G	G	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chrX:123870953G>T	ENST00000371130.3	-	4	693	c.630C>A	c.(628-630)ccC>ccA	p.P210P	TENM1_ENST00000422452.2_Silent_p.P210P	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	210	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.P212P(1)									CCGCTGCAGGGGGTGGCTTCC	0.622																																						uc004euj.2																			1	Substitution - coding silent(1)		lung(1)	ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						c.(628-630)CCC>CCA		odz, odd Oz/ten-m homolog 1 isoform 3							75.0	75.0	75.0					X																	123870953		2203	4300	6503	SO:0001819	synonymous_variant	10178				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	g.chrX:123870953G>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.630C>A	X.37:g.123870953G>T						ODZ1_uc011muj.1_Silent_p.P210P|ODZ1_uc010nqy.2_Silent_p.P210P	p.P210P	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN			4	694	-			210			Teneurin N-terminal.|Cytoplasmic (Potential).		B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.630C>A	CCDS14609.1																																																																																				PASS	0.622	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		45	41	45	41	---	---	---	---
BCORL1	63035	broad.mit.edu	37	X	129147552	129147552	+	Silent	SNP	C	C	T			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chrX:129147552C>T	ENST00000218147.7	+	4	1001	c.804C>T	c.(802-804)ctC>ctT	p.L268L	BCORL1_ENST00000303743.5_Silent_p.L268L|BCORL1_ENST00000359304.2_Silent_p.L268L|BCORL1_ENST00000540052.1_Silent_p.L268L			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	268	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.L268L(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGCCCACGCTCATCTCTGACT	0.627																																						uc004evb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(4)|breast(2)|lung(1)	7						c.(802-804)CTC>CTT		BCL6 co-repressor-like 1							116.0	102.0	107.0					X																	129147552		2203	4300	6503	SO:0001819	synonymous_variant	63035				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chrX:129147552C>T	AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.804C>T	X.37:g.129147552C>T						BCORL1_uc010nrd.1_Silent_p.L170L	p.L268L	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN			4	918	+			268			Pro-rich.		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Silent	SNP	ENST00000218147.7	37	c.804C>T	CCDS14616.1																																																																																				PASS	0.627	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		67	49	67	49	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639719	149639719	+	Missense_Mutation	SNP	A	A	G			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chrX:149639719A>G	ENST00000370401.2	+	4	2184	c.1874A>G	c.(1873-1875)cAg>cGg	p.Q625R	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q600R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q625R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q600R|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q106R			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	625					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q600R(1)|p.Q625R(1)|p.Q552R(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCGTTTTCAGCGATCAGTG	0.512																																						uc004fee.1																			3	Substitution - Missense(3)		lung(3)		0						c.(1873-1875)CAG>CGG		mastermind-like domain containing 1							108.0	94.0	99.0					X																	149639719		2203	4300	6503	SO:0001583	missense	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639719A>G	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1874A>G	X.37:g.149639719A>G	ENSP00000359428:p.Gln625Arg					MAMLD1_uc011mxt.1_Missense_Mutation_p.Q587R|MAMLD1_uc011mxu.1_Missense_Mutation_p.Q600R|MAMLD1_uc011mxv.1_Missense_Mutation_p.Q600R|MAMLD1_uc011mxw.1_Missense_Mutation_p.Q552R	p.Q625R	NM_005491	NP_005482	Q13495	MAMD1_HUMAN			3	1950	+	Acute lymphoblastic leukemia(192;6.56e-05)		625					B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	c.1874A>G	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	A	5.808	0.333333	0.11013	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.34	0.139	0.14798	.	0.176112	0.39407	N	0.001370	T	0.58075	0.2097	M	0.61703	1.905	0.34477	D	0.7035	B;B;B;B	0.16802	0.003;0.003;0.019;0.005	B;B;B;B	0.16289	0.007;0.007;0.015;0.004	T	0.54918	-0.8221	10	0.48119	T	0.1	-2.6774	8.3999	0.32579	0.5178:0.4112:0.0711:0.0	.	497;600;600;625	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	R	497;625;600;625;600;106	ENSP00000359428:Q625R;ENSP00000414517:Q600R;ENSP00000262858:Q625R;ENSP00000397438:Q600R;ENSP00000389106:Q106R	ENSP00000262858:Q625R	Q	+	2	0	MAMLD1	149390377	1.000000	0.71417	0.056000	0.19401	0.315000	0.28087	1.309000	0.33539	-0.333000	0.08476	0.441000	0.28932	CAG		PASS	0.512	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		4	100	4	100	---	---	---	---
LINC00202-2	731789	broad.mit.edu	37	10	26939628	26939628	+	lincRNA	DEL	C	C	-			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr10:26939628delC	ENST00000544033.1	+	0	5561					NR_026794.1				long intergenic non-protein coding RNA 202-2																		ACCCAGCCGTCCCCcaggaga	0.517																																						uc001isu.3																			0					0								Homo sapiens mRNA; cDNA DKFZp686G1626 (from clone DKFZp686G1626).																																						731789							g.chr10:26939628delC			10p12.1	2013-07-05			ENSG00000231976	ENSG00000231976		"""Long non-coding RNAs"""	44917	non-coding RNA	RNA, long non-coding							Standard	NR_026794		Approved		uc001isu.4		OTTHUMG00000017842		10.37:g.26939628delC								NR_026794						4		+									RNA	DEL	ENST00000544033.1	37	c.5622delC																																																																																						0.517	LINC00202-2-201	KNOWN	basic	lincRNA	lincRNA		NR_026794		18	8	18	8	---	---	---	---
HYDIN	54768	broad.mit.edu	37	16	71218891	71218891	+	Frame_Shift_Del	DEL	A	A	-			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr16:71218891delA	ENST00000393567.2	-	3	288	c.138delT	c.(136-138)cttfs	p.L46fs	HYDIN_ENST00000541601.1_Frame_Shift_Del_p.L63fs|HYDIN_ENST00000448089.2_Frame_Shift_Del_p.L46fs|HYDIN_ENST00000538248.1_Frame_Shift_Del_p.L73fs|HYDIN_ENST00000393550.2_Frame_Shift_Del_p.L46fs|HYDIN_ENST00000321489.5_Frame_Shift_Del_p.L46fs|HYDIN_ENST00000448691.1_Frame_Shift_Del_p.L46fs|HYDIN_ENST00000288168.10_Frame_Shift_Del_p.L63fs	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	46					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CTGAGGGTGTAAGCTAGAATG	0.393																																						uc002ezr.2																			0				ovary(1)|skin(1)	2						c.(136-138)CTTfs		hydrocephalus inducing isoform a							96.0	88.0	91.0					16																	71218891		2198	4300	6498	SO:0001589	frameshift_variant	54768							g.chr16:71218891delA	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.138delT	16.37:g.71218891delA	ENSP00000377197:p.Leu46fs					HYDIN_uc010cfz.1_5'UTR|HYDIN_uc002ezv.2_Frame_Shift_Del_p.L46fs|HYDIN_uc010vmc.1_Frame_Shift_Del_p.L63fs|HYDIN_uc010vmd.1_Frame_Shift_Del_p.L73fs|HYDIN_uc002ezw.3_Frame_Shift_Del_p.L63fs	p.L46fs	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			3	266	-		Ovarian(137;0.0654)	46					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Frame_Shift_Del	DEL	ENST00000393567.2	37	c.138delT	CCDS59269.1																																																																																					0.393	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			29	18	29	18	---	---	---	---
UBE2M	9040	broad.mit.edu	37	19	59068153	59068153	+	Frame_Shift_Del	DEL	C	C	-			TCGA-33-6737-01A-11D-1817-08	TCGA-33-6737-11A-01D-1817-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3b21ce38-16c6-4c68-9104-fa11f1b619b1	bf4fc6aa-29ff-4b3e-bbcc-163c874bff8f	g.chr19:59068153delC	ENST00000253023.3	-	4	826	c.248delG	c.(247-249)ggcfs	p.G83fs	CHMP2A_ENST00000601220.1_5'Flank|CHMP2A_ENST00000312547.2_5'Flank|AC016629.8_ENST00000593642.1_RNA|AC016629.8_ENST00000600726.1_RNA|CHMP2A_ENST00000600118.1_5'Flank|AC016629.8_ENST00000600534.1_RNA	NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	83					cellular protein modification process (GO:0006464)|positive regulation of neuron apoptotic process (GO:0043525)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|NEDD8 ligase activity (GO:0019788)|ribosomal S6-glutamic acid ligase activity (GO:0018169)|ubiquitin-protein transferase activity (GO:0004842)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GTAACCCTGGCCCACCTGGCT	0.597																																						uc002qtl.3																			0				ovary(1)|pancreas(1)	2						c.(247-249)GGCfs		ubiquitin-conjugating enzyme E2M							61.0	62.0	62.0					19																	59068153		2203	4300	6503	SO:0001589	frameshift_variant	9040				protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity	g.chr19:59068153delC	AB012191	CCDS12987.1	19q13.43	2011-05-19	2011-05-19		ENSG00000130725	ENSG00000130725		"""Ubiquitin-conjugating enzymes E2"""	12491	protein-coding gene	gene with protein product		603173	"""ubiquitin-conjugating enzyme E2M (homologous to yeast UBC12)"", ""ubiquitin-conjugating enzyme E2M (UBC12 homolog, yeast)"""			9694792	Standard	NM_003969		Approved	hUbc12, UBC12	uc002qtl.4	P61081		ENST00000253023.3:c.248delG	19.37:g.59068153delC	ENSP00000253023:p.Gly83fs					CHMP2A_uc002qti.2_5'Flank|CHMP2A_uc002qtj.2_5'Flank|CHMP2A_uc002qtk.2_5'Flank|LOC100131691_uc002qtm.2_5'Flank	p.G83fs	NM_003969	NP_003960	P61081	UBC12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)	4	843	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	83					O76069|Q8VC50	Frame_Shift_Del	DEL	ENST00000253023.3	37	c.248delG	CCDS12987.1																																																																																					0.597	UBE2M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467097.1	NM_003969		66	60	66	60	---	---	---	---
