#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
MST1L	11223	broad.mit.edu	37	1	17084961	17084961	+	RNA	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:17084961C>T	ENST00000455405.2	-	0	227							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										TGTGCCTCACCGATTCCGCAA	0.622																																						uc010ock.1																			0					0						c.(1513-1515)CGC>CAC		SubName: Full=Hepatocyte growth factor-like protein homolog;																																						11223							g.chr1:17084961C>T	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084961C>T						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.3_Missense_Mutation_p.R79Q	p.R505H	NR_002729						11	1514	-								B7WPB1|Q13209	Missense_Mutation	SNP	ENST00000455405.2	37	c.1514G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	16.31|16.31	3.086043|3.086043	0.55861|0.55861	.|.	.|.	ENSG00000186715|ENSG00000186715	ENST00000334998|ENST00000389184;ENST00000442552	.|.	.|.	.|.	.|.	.|.	.|.	.|Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000|0.000000	0.37761|0.37761	N|N	0.001957|0.001957	T|T	0.65616|0.65616	0.2708|0.2708	.|.	.|.	.|.	.|.	.|.	.|.	D|D	0.89917|0.89917	1.0|1.0	D|D	0.91635|0.87578	0.999|0.998	T|T	0.70182|0.70182	-0.4942|-0.4942	6|6	0.42905|0.87932	T|D	0.14|0	.|.	6.8326|6.8326	0.23919|0.23919	0.0:0.9999:0.0:1.0E-4|0.0:0.9999:0.0:1.0E-4	.|.	505|505	Q2TV78-2|Q2TV78	.|MSTP9_HUMAN	H|Q	505|474;505	.|.	ENSP00000439273:R505H|ENSP00000445850:R474Q	R|R	-|-	2|2	0|0	MST1P9|MST1P9	16957548|16957548	1.000000|1.000000	0.71417|0.71417	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	4.864000|4.864000	0.62990|0.62990	-0.000000|-0.000000	0.14550|0.14550	0.000000|0.000000	0.15137|0.15137	CGC|CGG		0.622	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733	
ZFP69	339559	broad.mit.edu	37	1	40945132	40945132	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:40945132G>A	ENST00000372706.1	+	2	1105	c.99G>A	c.(97-99)gaG>gaA	p.E33E	ZFP69_ENST00000372705.3_Silent_p.E33E			Q49AA0	ZFP69_HUMAN	ZFP69 zinc finger protein	33	SCAN box.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCCTGTGGGAGGATGTGACTA	0.532																																						uc001cfo.2																			0					0						c.(97-99)GAG>GAA		zinc finger protein 642							43.0	45.0	44.0					1																	40945132		2203	4300	6503	SO:0001819	synonymous_variant	339559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40945132G>A	AK122618	CCDS30686.1	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187815	ENSG00000187815		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	24708	protein-coding gene	gene with protein product	"""ZFP69 zinc finger protein A"""		"""zinc finger protein 642"""	ZNF642			Standard	XM_005270808		Approved	ZKSCAN23A, FLJ16030, ZFP69A, ZSCAN54A	uc001cfo.3	Q49AA0	OTTHUMG00000007303	ENST00000372706.1:c.99G>A	1.37:g.40945132G>A						ZNF642_uc009vwb.2_Silent_p.E33E|ZNF642_uc010ojk.1_Silent_p.E33E	p.E33E	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)		2	393	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	33			SCAN box.		Q5SWM5|Q6ZWK8	Silent	SNP	ENST00000372706.1	37	c.99G>A	CCDS30686.1																																																																																				0.532	ZFP69-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019082.1	NM_198494	
FLG	2312	broad.mit.edu	37	1	152275826	152275826	+	Missense_Mutation	SNP	C	C	T	rs143233744	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:152275826C>T	ENST00000368799.1	-	3	11571	c.11536G>A	c.(11536-11538)Ggc>Agc	p.G3846S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3846	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCCTGGCCGGACTGTGAG	0.592									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11536-11538)GGC>AGC		filaggrin		C	SER/GLY	0,4406		0,0,2203	213.0	221.0	219.0		11536	-1.1	0.0	1	dbSNP_134	219	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLG	NM_002016.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	3846/4062	152275826	1,13005	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.chr1:152275826C>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.11536G>A	1.37:g.152275826C>T	ENSP00000357789:p.Gly3846Ser						p.G3846S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11572	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3846			Filaggrin 23.|Ser-rich.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11536G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	8.633	0.894138	0.17613	0.0	1.16E-4	ENSG00000143631	ENST00000368799	T	0.01647	4.71	2.78	-1.06	0.10002	.	.	.	.	.	T	0.00936	0.0031	M	0.67953	2.075	0.09310	N	1	D	0.56035	0.974	P	0.52598	0.703	T	0.31971	-0.9924	9	0.07482	T	0.82	.	3.0509	0.06168	0.0:0.435:0.2269:0.3381	.	3846	P20930	FILA_HUMAN	S	3846	ENSP00000357789:G3846S	ENSP00000357789:G3846S	G	-	1	0	FLG	150542450	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.472000	0.06623	-0.390000	0.07774	0.552000	0.68991	GGC		0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
FLG	2312	broad.mit.edu	37	1	152275878	152275878	+	Silent	SNP	C	C	T	rs370872906		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:152275878C>T	ENST00000368799.1	-	3	11519	c.11484G>A	c.(11482-11484)tcG>tcA	p.S3828S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3828	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGTGACGCGACCCTGAGT	0.587									Ichthyosis																													uc001ezu.1																			0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(11482-11484)TCG>TCA		filaggrin		C		0,4406		0,0,2203	287.0	286.0	286.0		11484	-4.6	0.0	1		286	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		3828/4062	152275878	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:152275878C>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.11484G>A	1.37:g.152275878C>T							p.S3828S	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	11520	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3828			Filaggrin 23.|Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.11484G>A	CCDS30860.1																																																																																				0.587	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
SPTA1	6708	broad.mit.edu	37	1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:158627401G>A	ENST00000368147.4	-	19	2851	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	891					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)	p.R891*(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463																																						uc001fst.1																			1	Substitution - Nonsense(1)		endometrium(1)	ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2671-2673)CGA>TGA		spectrin, alpha, erythrocytic 1							175.0	172.0	173.0					1																	158627401		2011	4191	6202	SO:0001587	stop_gained	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158627401G>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2671C>T	1.37:g.158627401G>A	ENSP00000357129:p.Arg891*						p.R891*	NM_003126	NP_003117	P02549	SPTA1_HUMAN			19	2870	-	all_hematologic(112;0.0378)		891			Spectrin 9.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Nonsense_Mutation	SNP	ENST00000368147.4	37	c.2671C>T	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	G	37	6.627707	0.97718	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	.	.	.	4.67	2.72	0.32119	.	0.000000	0.29609	N	0.011661	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3699	0.55250	0.0:0.0:0.6925:0.3075	.	.	.	.	X	891	.	ENSP00000357129:R891X	R	-	1	2	SPTA1	156894025	1.000000	0.71417	0.017000	0.16124	0.037000	0.13140	2.194000	0.42668	0.634000	0.30469	0.655000	0.94253	CGA		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
SPTA1	6708	broad.mit.edu	37	1	158637763	158637763	+	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:158637763C>G	ENST00000368147.4	-	15	2103	c.1923G>C	c.(1921-1923)caG>caC	p.Q641H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	641					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGCCAGTTTTCTGTATGTTTT	0.473																																						uc001fst.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(1921-1923)CAG>CAC		spectrin, alpha, erythrocytic 1							170.0	165.0	167.0					1																	158637763		1863	4098	5961	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158637763C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1923G>C	1.37:g.158637763C>G	ENSP00000357129:p.Gln641His						p.Q641H	NM_003126	NP_003117	P02549	SPTA1_HUMAN			15	2122	-	all_hematologic(112;0.0378)		641			Spectrin 7.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.1923G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	13.37	2.215714	0.39102	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.51574	0.7;0.7	4.95	-0.125	0.13519	.	1.390910	0.05520	N	0.561957	T	0.24314	0.0589	L	0.50333	1.59	0.29807	N	0.831978	B	0.13145	0.007	B	0.25759	0.063	T	0.38373	-0.9664	10	0.49607	T	0.09	.	9.0523	0.36383	0.0:0.6101:0.0:0.3899	.	641	P02549	SPTA1_HUMAN	H	641	ENSP00000357130:Q641H;ENSP00000357129:Q641H	ENSP00000357129:Q641H	Q	-	3	2	SPTA1	156904387	1.000000	0.71417	0.339000	0.25562	0.351000	0.29236	1.414000	0.34736	0.043000	0.15746	0.650000	0.86243	CAG		0.473	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
ARMC3	219681	broad.mit.edu	37	10	23321938	23321938	+	Missense_Mutation	SNP	G	G	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr10:23321938G>T	ENST00000298032.5	+	18	2479	c.2395G>T	c.(2395-2397)Gct>Tct	p.A799S	ARMC3_ENST00000409983.3_Missense_Mutation_p.A792S|ARMC3_ENST00000376528.4_Missense_Mutation_p.A536S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	799						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTACCATCGAGCTTTGCTTTT	0.353																																						uc001irm.3																			0					0						c.(2395-2397)GCT>TCT		armadillo repeat containing 3							119.0	113.0	115.0					10																	23321938		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23321938G>T	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.2395G>T	10.37:g.23321938G>T	ENSP00000298032:p.Ala799Ser					ARMC3_uc010qcv.1_Missense_Mutation_p.A792S|ARMC3_uc010qcw.1_Missense_Mutation_p.A536S	p.A799S	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			18	2478	+			799					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.2395G>T	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235717	0.79800	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376528	T;T;T	0.78481	-1.18;-1.16;0.2	5.47	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.87208	0.6120	M	0.75085	2.285	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.88822	0.3299	10	0.87932	D	0	-4.1524	14.4816	0.67587	0.0711:0.0:0.9289:0.0	.	792;799	Q5W041-4;Q5W041	.;ARMC3_HUMAN	S	799;792;536	ENSP00000298032:A799S;ENSP00000386943:A792S;ENSP00000365711:A536S	ENSP00000298032:A799S	A	+	1	0	ARMC3	23361944	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	7.394000	0.79862	1.433000	0.47394	0.555000	0.69702	GCT		0.353	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081	
MCMBP	79892	broad.mit.edu	37	10	121600464	121600464	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr10:121600464C>A	ENST00000360003.3	-	11	1308	c.1139G>T	c.(1138-1140)aGa>aTa	p.R380I	MCMBP_ENST00000466047.1_5'UTR|MCMBP_ENST00000369077.3_Missense_Mutation_p.R378I	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein	380					DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GACATCTCTTCTTGTATATCT	0.328																																						uc001ler.2																			0					0						c.(1138-1140)AGA>ATA		chromosome 10 open reading frame 119							98.0	99.0	99.0					10																	121600464		2202	4299	6501	SO:0001583	missense	79892				cell division|DNA-dependent DNA replication|mitosis|S phase of mitotic cell cycle|sister chromatid cohesion	nucleus	chromatin binding	g.chr10:121600464C>A	BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159	ENST00000360003.3:c.1139G>T	10.37:g.121600464C>A	ENSP00000353098:p.Arg380Ile					C10orf119_uc001leq.1_Missense_Mutation_p.R205I|C10orf119_uc001les.1_Missense_Mutation_p.R205I	p.R380I	NM_024834	NP_079110	Q9BTE3	MCMBP_HUMAN		all cancers(201;0.0044)	11	1437	-		Lung NSC(174;0.109)|all_lung(145;0.142)	380					B3KSP7|Q6IA56|Q9BVT9|Q9H916	Missense_Mutation	SNP	ENST00000360003.3	37	c.1139G>T	CCDS7617.1	.	.	.	.	.	.	.	.	.	.	C	35	5.546322	0.96488	.	.	ENSG00000197771	ENST00000360003;ENST00000369077	.	.	.	6.1	6.1	0.99115	.	0.000000	0.85682	D	0.000000	D	0.83704	0.5312	M	0.90425	3.115	0.80722	D	1	D	0.57899	0.981	P	0.56514	0.8	D	0.85578	0.1238	9	0.66056	D	0.02	-12.9136	20.7146	0.99709	0.0:1.0:0.0:0.0	.	380	Q9BTE3	MCMBP_HUMAN	I	380;378	.	ENSP00000353098:R380I	R	-	2	0	MCMBP	121590454	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.226000	0.78060	2.902000	0.99343	0.650000	0.86243	AGA		0.328	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1	NM_024834	
CHRNA10	57053	broad.mit.edu	37	11	3690464	3690464	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:3690464G>A	ENST00000250699.2	-	3	395	c.324C>T	c.(322-324)agC>agT	p.S108S	CHRNA10_ENST00000493827.2_5'UTR|CHRNA10_ENST00000534359.1_5'UTR	NM_020402.2	NP_065135.2	Q9GZZ6	ACH10_HUMAN	cholinergic receptor, nicotinic, alpha 10 (neuronal)	108					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|inner ear morphogenesis (GO:0042472)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of cell proliferation (GO:0042127)|synaptic transmission, cholinergic (GO:0007271)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|perikaryon (GO:0043204)|postsynaptic membrane (GO:0045211)	acetylcholine-activated cation-selective channel activity (GO:0004889)|calcium channel activity (GO:0005262)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Galantamine(DB00674)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Succinylcholine(DB00202)|Trimethaphan(DB01116)	ACACAAGACTGCTGGGGATGC	0.567																																					Melanoma(153;17 1869 2949 7120 36888)	uc001lyf.2																			0				ovary(1)	1						c.(322-324)AGC>AGT		cholinergic receptor, nicotinic, alpha 10	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)						104.0	80.0	88.0					11																	3690464		2201	4298	6499	SO:0001819	synonymous_variant	57053				elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding	g.chr11:3690464G>A	AF199235	CCDS7745.1	11p15.5	2012-02-11	2012-02-07		ENSG00000129749	ENSG00000129749		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	13800	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 10 (neuronal)"""	606372	"""cholinergic receptor, nicotinic, alpha polypeptide 10"""				Standard	NM_020402		Approved		uc001lyf.3	Q9GZZ6	OTTHUMG00000011844	ENST00000250699.2:c.324C>T	11.37:g.3690464G>A						CHRNA10_uc010qxt.1_5'UTR|CHRNA10_uc010qxu.1_5'UTR	p.S108S	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	3	396	-		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)	108			Extracellular (Potential).			Silent	SNP	ENST00000250699.2	37	c.324C>T	CCDS7745.1																																																																																				0.567	CHRNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032763.2		
MICAL2	9645	broad.mit.edu	37	11	12241780	12241780	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:12241780G>A	ENST00000256194.4	+	9	1269	c.981G>A	c.(979-981)gcG>gcA	p.A327A	MICAL2_ENST00000537344.1_Silent_p.A327A|MICAL2_ENST00000342902.5_Silent_p.A327A|MICAL2_ENST00000379612.3_Silent_p.A327A|MICAL2_ENST00000527546.1_Silent_p.A327A	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	327	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGCTGTGTGCGGAGAACGTGA	0.527																																						uc001mjz.2																			0				upper_aerodigestive_tract(2)	2						c.(979-981)GCG>GCA		microtubule associated monoxygenase, calponin							160.0	137.0	145.0					11																	12241780		2201	4294	6495	SO:0001819	synonymous_variant	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12241780G>A	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.981G>A	11.37:g.12241780G>A						MICAL2_uc010rch.1_Silent_p.A327A|MICAL2_uc001mka.2_Silent_p.A327A|MICAL2_uc010rci.1_Silent_p.A327A|MICAL2_uc001mkb.2_Silent_p.A327A|MICAL2_uc001mkc.2_Silent_p.A327A|MICAL2_uc001mkd.2_Silent_p.A156A|MICAL2_uc010rcj.1_5'Flank	p.A327A	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	9	1269	+			327					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Silent	SNP	ENST00000256194.4	37	c.981G>A	CCDS7809.1																																																																																				0.527	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632	
PYGM	5837	broad.mit.edu	37	11	64514249	64514249	+	Missense_Mutation	SNP	C	C	T	rs372295369		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:64514249C>T	ENST00000164139.3	-	20	2809	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	PYGM_ENST00000377432.3_Missense_Mutation_p.R716Q|RASGRP2_ENST00000394432.3_5'Flank|RASGRP2_ENST00000377489.1_5'Flank|RASGRP2_ENST00000377494.1_5'Flank|RASGRP2_ENST00000377487.1_5'Flank|RASGRP2_ENST00000377497.3_5'Flank|RASGRP2_ENST00000394430.1_5'Flank|RASGRP2_ENST00000354024.3_5'Flank|RASGRP2_ENST00000377486.3_5'Flank	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	804					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGCTATGTTCCGGATCACCAT	0.607																																						uc001oax.3																			0				ovary(2)	2						c.(2410-2412)CGG>CAG		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)	C	GLN/ARG,GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	120.0	113.0	115.0		2147,2411	3.4	1.0	11		115	0,8594		0,0,4297	no	missense,missense	PYGM	NM_001164716.1,NM_005609.2	43,43	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	716/755,804/843	64514249	1,12995	2201	4297	6498	SO:0001583	missense	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64514249C>T		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2411G>A	11.37:g.64514249C>T	ENSP00000164139:p.Arg804Gln					RASGRP2_uc009ypu.2_5'Flank|RASGRP2_uc009ypv.2_5'Flank|RASGRP2_uc009ypw.2_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.3_Missense_Mutation_p.R716Q	p.R804Q	NM_005609	NP_005600	P11217	PYGM_HUMAN			20	3228	-			804					A0AVK1|A6NDY6	Missense_Mutation	SNP	ENST00000164139.3	37	c.2411G>A	CCDS8079.1	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898089	0.52227	2.27E-4	0.0	ENSG00000068976	ENST00000377432;ENST00000164139;ENST00000540450	D;D	0.93247	-3.07;-3.19	4.32	3.38	0.38709	.	0.000000	0.42682	D	0.000664	D	0.87970	0.6312	L	0.45352	1.415	0.35416	D	0.792872	B;B	0.23377	0.084;0.018	B;B	0.15484	0.013;0.008	D	0.87203	0.2242	10	0.52906	T	0.07	-22.8757	6.9564	0.24574	0.0:0.7931:0.0:0.2069	.	716;804	A6NDY6;P11217	.;PYGM_HUMAN	Q	716;804;785	ENSP00000366650:R716Q;ENSP00000164139:R804Q	ENSP00000164139:R804Q	R	-	2	0	PYGM	64270825	0.992000	0.36948	1.000000	0.80357	0.992000	0.81027	0.466000	0.22019	2.256000	0.74724	0.407000	0.27541	CGG		0.607	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609	
PDGFD	80310	broad.mit.edu	37	11	103780460	103780460	+	Nonsense_Mutation	SNP	G	G	A	rs185084946		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:103780460G>A	ENST00000393158.2	-	7	1254	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	PDGFD_ENST00000302251.5_Nonsense_Mutation_p.R353*			Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	359					cellular response to amino acid stimulus (GO:0071230)|multicellular organismal development (GO:0007275)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAATCACATCGTTCATGGTGA	0.448													G|||	1	0.000199681	0.0	0.0014	5008	,	,		22174	0.0		0.0	False		,,,				2504	0.0					uc001phq.2																			0				upper_aerodigestive_tract(1)|large_intestine(1)	2						c.(1075-1077)CGA>TGA		platelet derived growth factor D isoform 1							326.0	264.0	285.0					11																	103780460		2202	4299	6501	SO:0001587	stop_gained	80310				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity	g.chr11:103780460G>A	AF113216	CCDS8326.1, CCDS41703.1	11q22.3	2008-02-05			ENSG00000170962	ENSG00000170962			30620	protein-coding gene	gene with protein product	"""spinal cord derived growth factor B"""	609673				11162582, 11980634	Standard	NM_033135		Approved	SCDGF-B, MSTP036, IEGF	uc001phq.3	Q9GZP0	OTTHUMG00000165953	ENST00000393158.2:c.1075C>T	11.37:g.103780460G>A	ENSP00000376865:p.Arg359*					PDGFD_uc001php.2_Nonsense_Mutation_p.R353*	p.R359*	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)	7	1447	-		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)	359					A8K9T6|Q9BWV5	Nonsense_Mutation	SNP	ENST00000393158.2	37	c.1075C>T	CCDS41703.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	40	8.188583	0.98696	.	.	ENSG00000170962	ENST00000393158;ENST00000302251	.	.	.	5.91	5.01	0.66863	.	0.123358	0.53938	D	0.000054	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.171	14.8933	0.70625	0.0683:0.0:0.9316:0.0	.	.	.	.	X	359;353	.	ENSP00000302193:R353X	R	-	1	2	PDGFD	103285670	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.343000	0.59348	1.501000	0.48654	0.655000	0.94253	CGA		0.448	PDGFD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387231.2	NM_025208	
NLRX1	79671	broad.mit.edu	37	11	119054075	119054075	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:119054075G>A	ENST00000409109.1	+	10	3442	c.2855G>A	c.(2854-2856)cGc>cAc	p.R952H	PDZD3_ENST00000392817.2_5'Flank|PDZD3_ENST00000531114.1_5'Flank|PDZD3_ENST00000525131.1_5'Flank|PDZD3_ENST00000322712.4_5'Flank|NLRX1_ENST00000409991.1_Missense_Mutation_p.R952H|NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000292199.2_Missense_Mutation_p.R952H|PDZD3_ENST00000355547.5_5'Flank|NLRX1_ENST00000525863.1_Intron	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	952	LRRCT.|Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)	p.R952H(1)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AATCCTTGGCGCAAGGCCCAG	0.637																																						uc001pvu.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2854-2856)CGC>CAC		NLR family member X1 isoform 1							45.0	47.0	46.0					11																	119054075		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119054075G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2855G>A	11.37:g.119054075G>A	ENSP00000387334:p.Arg952His					NLRX1_uc001pvv.2_Intron|NLRX1_uc001pvw.2_Missense_Mutation_p.R952H|NLRX1_uc001pvx.2_Missense_Mutation_p.R952H|PDZD3_uc001pvy.2_5'Flank|PDZD3_uc001pvz.2_5'Flank|PDZD3_uc010rzd.1_5'Flank|PDZD3_uc001pwa.2_5'Flank|PDZD3_uc001pwb.2_5'Flank	p.R952H	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	10	3070	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	952			Required for the repression of MAVS- induced interferon signaling.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.2855G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329425	0.81690	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409109	T;T;T	0.73363	-0.74;-0.74;-0.74	5.48	4.56	0.56223	.	0.157867	0.44483	D	0.000453	T	0.79610	0.4475	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.64410	0.925	T	0.80054	-0.1543	10	0.56958	D	0.05	.	11.302	0.49311	0.1469:0.0:0.8531:0.0	.	952	Q86UT6	NLRX1_HUMAN	H	952	ENSP00000386851:R952H;ENSP00000292199:R952H;ENSP00000387334:R952H	ENSP00000292199:R952H	R	+	2	0	NLRX1	118559285	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.073000	0.41519	1.301000	0.44836	0.655000	0.94253	CGC		0.637	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722	
ARHGAP32	9743	broad.mit.edu	37	11	128910863	128910863	+	Missense_Mutation	SNP	T	T	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:128910863T>A	ENST00000310343.9	-	10	962	c.963A>T	c.(961-963)caA>caT	p.Q321H	ARHGAP32_ENST00000524655.1_Missense_Mutation_p.Q247H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	321	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGGGAACTTTTTGGTTAATTA	0.393																																						uc009zcp.2																			0				lung(3)|ovary(2)	5						c.(961-963)CAA>CAT		Rho GTPase-activating protein isoform 1							83.0	73.0	76.0					11																	128910863		1566	3579	5145	SO:0001583	missense	9743				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	g.chr11:128910863T>A	AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.963A>T	11.37:g.128910863T>A	ENSP00000310561:p.Gln321His					ARHGAP32_uc009zcq.1_Missense_Mutation_p.Q281H|ARHGAP32_uc001qfb.2_Missense_Mutation_p.Q106H	p.Q321H	NM_001142685	NP_001136157	A7KAX9	RHG32_HUMAN			10	963	-			321			SH3.		I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Missense_Mutation	SNP	ENST00000310343.9	37	c.963A>T	CCDS44769.1	.	.	.	.	.	.	.	.	.	.	T	17.78	3.473984	0.63737	.	.	ENSG00000134909	ENST00000310343;ENST00000524655;ENST00000457677;ENST00000356092	T;T	0.29397	1.57;1.57	5.22	0.0178	0.14113	Src homology-3 domain (2);	.	.	.	.	T	0.27384	0.0672	L	0.29908	0.895	0.25971	N	0.98251	P;D;B	0.59357	0.747;0.985;0.182	B;P;B	0.51415	0.396;0.669;0.078	T	0.15178	-1.0446	9	0.87932	D	0	.	5.1638	0.15075	0.0:0.2389:0.1627:0.5985	.	255;321;139	Q86T64;A7KAX9;Q86UT2	.;RHG32_HUMAN;.	H	321;247;255;31	ENSP00000310561:Q321H;ENSP00000432468:Q247H	ENSP00000310561:Q321H	Q	-	3	2	ARHGAP32	128416073	0.997000	0.39634	0.999000	0.59377	0.994000	0.84299	0.212000	0.17497	0.049000	0.15920	0.482000	0.46254	CAA		0.393	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386151.3	NM_014715	
KLRG1	10219	broad.mit.edu	37	12	9142272	9142272	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:9142272C>T	ENST00000266551.4	+	1	56	c.41C>T	c.(40-42)aCg>aTg	p.T14M	RP11-259O18.4_ENST00000545706.1_RNA|KLRG1_ENST00000356986.3_Missense_Mutation_p.T14M|KLRG1_ENST00000538029.1_Intron	NM_005810.3	NP_005801.3	Q96E93	KLRG1_HUMAN	killer cell lectin-like receptor subfamily G, member 1	14					cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						GAGTTGCCTACGGCAACCCAA	0.413																																						uc001qvh.2																			0				central_nervous_system(1)	1						c.(40-42)ACG>ATG		killer cell lectin-like receptor subfamily G,							96.0	92.0	93.0					12																	9142272		2203	4300	6503	SO:0001583	missense	10219				cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding	g.chr12:9142272C>T	AF097358	CCDS8599.1	12p13.31	2011-08-30			ENSG00000139187	ENSG00000139187		"""Killer cell lectin-like receptors"", ""C-type lectin domain containing"""	6380	protein-coding gene	gene with protein product	"""C-type lectin domain family 15, member A"""	604874				9862378, 9842918, 16461340, 16140789	Standard	NM_005810		Approved	MAFA, 2F1, MAFA-L, CLEC15A	uc001qvg.3	Q96E93		ENST00000266551.4:c.41C>T	12.37:g.9142272C>T	ENSP00000266551:p.Thr14Met					KLRG1_uc001qvg.2_Missense_Mutation_p.T14M	p.T14M	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN			1	52	+			14			Cytoplasmic (Potential).		B7ZAM2|O43198|O75613	Missense_Mutation	SNP	ENST00000266551.4	37	c.41C>T		.	.	.	.	.	.	.	.	.	.	C	8.486	0.860798	0.17178	.	.	ENSG00000139187	ENST00000356986;ENST00000266551	T;T	0.01272	5.07;5.18	3.9	2.99	0.34606	.	1.340760	0.05255	N	0.514659	T	0.02727	0.0082	N	0.08118	0	0.09310	N	1	D;D	0.89917	1.0;1.0	P;D	0.63113	0.818;0.911	T	0.57717	-0.7763	10	0.54805	T	0.06	0.0041	9.1698	0.37074	0.2151:0.7849:0.0:0.0	.	14;14	Q96E93;Q96E93-2	KLRG1_HUMAN;.	M	14	ENSP00000349477:T14M;ENSP00000266551:T14M	ENSP00000266551:T14M	T	+	2	0	KLRG1	9033539	0.000000	0.05858	0.001000	0.08648	0.022000	0.10575	0.239000	0.18023	1.181000	0.42912	0.650000	0.86243	ACG		0.413	KLRG1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000399145.1	NM_005810	
KIF5A	3798	broad.mit.edu	37	12	57963411	57963411	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:57963411G>A	ENST00000455537.2	+	11	1336	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	KIF5A_ENST00000286452.5_Silent_p.K265K	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	354					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						agaagacaaaggcccagaagg	0.532																																						uc001sor.1																			0				ovary(2)|skin(1)	3						c.(1060-1062)AAG>AAA		kinesin family member 5A							53.0	57.0	55.0					12																	57963411		2203	4300	6503	SO:0001819	synonymous_variant	3798				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity	g.chr12:57963411G>A	U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.1062G>A	12.37:g.57963411G>A						KIF5A_uc010srr.1_Silent_p.K265K	p.K354K	NM_004984	NP_004975	Q12840	KIF5A_HUMAN			11	1270	+			354					A6H8M5|Q4LE26	Silent	SNP	ENST00000455537.2	37	c.1062G>A	CCDS8945.1																																																																																				0.532	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407634.1	NM_004984	
OS9	10956	broad.mit.edu	37	12	58109576	58109576	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:58109576G>A	ENST00000315970.7	+	6	654	c.613G>A	c.(613-615)Gac>Aac	p.D205N	OS9_ENST00000257966.8_Missense_Mutation_p.D205N|OS9_ENST00000389146.6_Missense_Mutation_p.D205N|OS9_ENST00000552285.1_Missense_Mutation_p.D205N|OS9_ENST00000435406.2_Missense_Mutation_p.D153N|OS9_ENST00000439210.2_Missense_Mutation_p.D146N|OS9_ENST00000413095.2_Intron|OS9_ENST00000551035.1_Missense_Mutation_p.D172N|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000389142.5_Missense_Mutation_p.D205N	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	205					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TATCTCTGGGGACTACATCGA	0.542																																						uc001spj.2																			0				ovary(1)	1						c.(613-615)GAC>AAC		osteosarcoma amplified 9, endoplasmic reticulum							97.0	93.0	94.0					12																	58109576		2203	4300	6503	SO:0001583	missense	10956				ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	g.chr12:58109576G>A	AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.613G>A	12.37:g.58109576G>A	ENSP00000318165:p.Asp205Asn					OS9_uc010srx.1_Intron|OS9_uc001spk.2_Missense_Mutation_p.D205N|OS9_uc001spl.2_Missense_Mutation_p.D205N|OS9_uc001spm.2_Missense_Mutation_p.D205N|OS9_uc001spn.2_Missense_Mutation_p.D205N|OS9_uc010sry.1_Missense_Mutation_p.D172N|OS9_uc010srz.1_Missense_Mutation_p.D146N	p.D205N	NM_006812	NP_006803	Q13438	OS9_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		6	672	+	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		205					A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	ENST00000315970.7	37	c.613G>A	CCDS31843.1	.	.	.	.	.	.	.	.	.	.	G	32	5.155681	0.94686	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000439210;ENST00000389146;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000550372;ENST00000389142	T;T;T;T;T;T;T;T;T	0.03772	3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81;3.81	6.04	6.04	0.98038	Mannose-6-phosphate receptor, binding (1);	0.000000	0.85682	D	0.000000	T	0.16642	0.0400	L	0.42529	1.33	0.80722	D	1	D;D;P;D;P;P;D	0.89917	1.0;1.0;0.835;1.0;0.745;0.766;0.999	D;D;P;D;P;P;D	0.91635	0.999;0.998;0.876;0.997;0.755;0.755;0.996	T	0.00553	-1.1674	10	0.33141	T	0.24	.	19.3507	0.94384	0.0:0.0:1.0:0.0	.	146;172;205;205;205;205;205	E7EW91;F8VUH2;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;OS9_HUMAN	N	205;205;146;205;172;205;153;145;205	ENSP00000450010:D205N;ENSP00000318165:D205N;ENSP00000407360:D146N;ENSP00000373798:D205N;ENSP00000447866:D172N;ENSP00000257966:D205N;ENSP00000389632:D153N;ENSP00000447719:D145N;ENSP00000373794:D205N	ENSP00000257966:D205N	D	+	1	0	OS9	56395843	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.502000	0.90505	2.873000	0.98535	0.561000	0.74099	GAC		0.542	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408344.1	NM_006812	
AVIL	10677	broad.mit.edu	37	12	58204641	58204641	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:58204641G>A	ENST00000257861.3	-	5	946	c.516C>T	c.(514-516)atC>atT	p.I172I	AVIL_ENST00000537081.1_Silent_p.I165I	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	172	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CATTCCATTGGATGATGACTT	0.502																																						uc001sqj.1																			0				central_nervous_system(1)	1						c.(514-516)ATC>ATT		advillin							149.0	148.0	148.0					12																	58204641		2203	4300	6503	SO:0001819	synonymous_variant	10677				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding	g.chr12:58204641G>A	AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.516C>T	12.37:g.58204641G>A						AVIL_uc009zqe.1_Silent_p.I165I|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.3_Silent_p.I149I	p.I172I	NM_006576	NP_006567	O75366	AVIL_HUMAN			5	545	-	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		172			Gelsolin-like 2.|Core (By similarity).		B2RAU7|Q2NKM9	Silent	SNP	ENST00000257861.3	37	c.516C>T	CCDS8959.1																																																																																				0.502	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409276.1	NM_006576	
LRIG3	121227	broad.mit.edu	37	12	59268350	59268351	+	Frame_Shift_Ins	INS	-	-	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:59268350_59268351insG	ENST00000320743.3	-	17	2986_2987	c.2700_2701insC	c.(2698-2703)acctgcfs	p.C901fs	LRIG3_ENST00000379141.4_Frame_Shift_Ins_p.C841fs	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	901					otolith morphogenesis (GO:0032474)	cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC																																	uc001sqr.2				Dom	yes		12	12q14.1	121227		leucine-rich repeats and immunoglobulin-like domains 3			E					0				skin(3)|ovary(1)	4						c.(2698-2703)ACCTGCfs		leucine-rich repeats and immunoglobulin-like																																				SO:0001589	frameshift_variant	121227					integral to membrane		g.chr12:59268350_59268351insG	AY505340	CCDS8960.1, CCDS44933.1	12q13.2	2013-01-11				ENSG00000139263		"""Immunoglobulin superfamily / I-set domain containing"""	30991	protein-coding gene	gene with protein product		608870					Standard	NM_153377		Approved	FLJ90440, KIAA3016	uc001sqr.4	Q6UXM1	OTTHUMG00000169940	ENST00000320743.3:c.2701dupC	12.37:g.59268352_59268352dupG	ENSP00000326759:p.Cys901fs					LRIG3_uc009zqh.2_Frame_Shift_Ins_p.T840fs|LRIG3_uc010ssh.1_RNA	p.T900fs	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	GBM - Glioblastoma multiforme(1;1.17e-18)		17	2946_2947	-			900_901					Q6UXL7|Q8NC72	Frame_Shift_Ins	INS	ENST00000320743.3	37	c.2700_2701insC	CCDS8960.1																																																																																				0.401	LRIG3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406623.1	NM_153377	
ACIN1	22985	broad.mit.edu	37	14	23564497	23564497	+	De_novo_Start_InFrame	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:23564497G>A	ENST00000262710.1	-	0	326				ACIN1_ENST00000605057.1_5'Flank|C14orf119_ENST00000554203.1_5'Flank|ACIN1_ENST00000555053.1_De_novo_Start_InFrame|C14orf119_ENST00000319074.4_5'UTR|ACIN1_ENST00000457657.1_De_novo_Start_InFrame	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1						apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCTCCACATCGTTACCAATCA	0.542																																						uc001wit.3																			0				ovary(2)|large_intestine(1)|skin(1)	4						c.(-3-1)AACGA>AATGA		apoptotic chromatin condensation inducer 1							78.0	80.0	79.0					14																	23564497		2203	4300	6503			22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23564497G>A	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716		14.37:g.23564497G>A						ACIN1_uc010akg.2_Translation_Start_Site|ACIN1_uc010tnj.1_Translation_Start_Site|C14orf119_uc001wiu.2_5'Flank		NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	1	327	-	all_cancers(95;1.36e-05)							B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Translation_Start_Site	SNP	ENST00000262710.1	37	c.-1C>T	CCDS9587.1																																																																																				0.542	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977	
MYH6	4624	broad.mit.edu	37	14	23857466	23857466	+	Silent	SNP	G	G	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:23857466G>C	ENST00000356287.3	-	29	4286	c.4257C>G	c.(4255-4257)acC>acG	p.T1419T	MIR208A_ENST00000362287.1_RNA|MYH6_ENST00000405093.3_Silent_p.T1419T			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1419					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCGGTGCTTGGTCTTCTCCA	0.572																																						uc001wjv.2																			0				pancreas(2)|ovary(1)|skin(1)	4						c.(4255-4257)ACC>ACG		myosin heavy chain 6							139.0	133.0	135.0					14																	23857466		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23857466G>C	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.4257C>G	14.37:g.23857466G>C							p.T1419T	NM_002471	NP_002462	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	30	4324	-	all_cancers(95;2.54e-05)		1419			Potential.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.4257C>G	CCDS9600.1																																																																																				0.572	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3		
KCNH5	27133	broad.mit.edu	37	14	63468087	63468087	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:63468087G>A	ENST00000322893.7	-	4	663	c.395C>T	c.(394-396)aCg>aTg	p.T132M	KCNH5_ENST00000394964.2_Missense_Mutation_p.T74M|KCNH5_ENST00000394968.1_Missense_Mutation_p.T74M|KCNH5_ENST00000420622.2_Missense_Mutation_p.T132M	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	132	PAC. {ECO:0000255|PROSITE- ProRule:PRU00141}.				potassium ion transmembrane transport (GO:0071805)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTGAACAACGTAATATCCTT	0.343																																						uc001xfx.2																			0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(394-396)ACG>ATG		potassium voltage-gated channel, subfamily H,							113.0	101.0	105.0					14																	63468087		2203	4300	6503	SO:0001583	missense	27133				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	g.chr14:63468087G>A	U69185	CCDS9756.1, CCDS45122.1	14q23.1	2012-07-05			ENSG00000140015	ENSG00000140015		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6254	protein-coding gene	gene with protein product		605716				9738473, 16382104	Standard	NM_139318		Approved	Kv10.2, H-EAG2, eag2	uc001xfx.3	Q8NCM2	OTTHUMG00000029041	ENST00000322893.7:c.395C>T	14.37:g.63468087G>A	ENSP00000321427:p.Thr132Met					KCNH5_uc001xfy.2_Missense_Mutation_p.T132M|KCNH5_uc001xfz.1_Missense_Mutation_p.T74M|KCNH5_uc001xga.2_Missense_Mutation_p.T74M	p.T132M	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)	4	446	-			132			PAC.|Cytoplasmic (Potential).		C9JP98	Missense_Mutation	SNP	ENST00000322893.7	37	c.395C>T	CCDS9756.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.765009	0.90020	.	.	ENSG00000140015	ENST00000322893;ENST00000420622;ENST00000394968;ENST00000394964	D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88	5.64	5.64	0.86602	PAS-associated, C-terminal (1);PAS (1);	0.000000	0.85682	D	0.000000	D	0.96886	0.8983	M	0.89287	3.02	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.996;0.996;0.999	D	0.97189	0.9856	10	0.87932	D	0	.	19.7059	0.96071	0.0:0.0:1.0:0.0	.	74;74;132;132	Q86XI1;Q8NCM2-3;Q8NCM2-2;Q8NCM2	.;.;.;KCNH5_HUMAN	M	132;132;74;74	ENSP00000321427:T132M;ENSP00000395439:T132M;ENSP00000378419:T74M;ENSP00000378415:T74M	ENSP00000321427:T132M	T	-	2	0	KCNH5	62537840	1.000000	0.71417	0.961000	0.40146	0.995000	0.86356	9.869000	0.99810	2.673000	0.90976	0.591000	0.81541	ACG		0.343	KCNH5-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411747.1	NM_139318	
LTBP2	4053	broad.mit.edu	37	14	74971518	74971518	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:74971518C>T	ENST00000261978.4	-	30	4802	c.4416G>A	c.(4414-4416)gtG>gtA	p.V1472V	LTBP2_ENST00000556690.1_Silent_p.V1428V	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1472					protein secretion (GO:0009306)|protein targeting (GO:0006605)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGCTCCTTCCACAGGAATGT	0.562																																						uc001xqa.2																			0				liver(1)|skin(1)	2						c.(4414-4416)GTG>GTA		latent transforming growth factor beta binding							117.0	103.0	107.0					14																	74971518		2203	4300	6503	SO:0001819	synonymous_variant	4053				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	g.chr14:74971518C>T		CCDS9831.1	14q24.3	2011-10-20	2001-12-04			ENSG00000119681		"""Latent transforming growth factor, beta binding proteins"""	6715	protein-coding gene	gene with protein product		602091	"""chromosome 14 open reading frame 141"""	LTBP3, C14orf141		7798248	Standard	NM_000428		Approved		uc001xqa.3	Q14767		ENST00000261978.4:c.4416G>A	14.37:g.74971518C>T							p.V1472V	NM_000428	NP_000419	Q14767	LTBP2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)	30	4803	-			1472					Q99907|Q9NS51	Silent	SNP	ENST00000261978.4	37	c.4416G>A	CCDS9831.1																																																																																				0.562	LTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413595.1	NM_000428	
STON2	85439	broad.mit.edu	37	14	81744722	81744722	+	Silent	SNP	T	T	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:81744722T>G	ENST00000267540.2	-	4	1133	c.933A>C	c.(931-933)gcA>gcC	p.A311A	STON2_ENST00000555447.1_Silent_p.A311A|STON2_ENST00000556280.1_5'Flank	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	311					hematopoietic progenitor cell differentiation (GO:0002244)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|clathrin adaptor complex (GO:0030131)|clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|synaptic vesicle (GO:0008021)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AAGGGTTGGTTGCCCTCCAAG	0.498																																						uc010tvu.1																			0				skin(3)|pancreas(2)	5						c.(931-933)GCA>GCC		stonin 2							93.0	96.0	95.0					14																	81744722		2203	4300	6503	SO:0001819	synonymous_variant	85439				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding	g.chr14:81744722T>G	AB208948	CCDS9875.1, CCDS58332.1	14q31.1	2007-08-01				ENSG00000140022			30652	protein-coding gene	gene with protein product	"""stoned B homolog 2 (Drosophila)"""	608467				11381094, 11454741	Standard	NM_033104		Approved	STNB2, STN2	uc001xvk.2	Q8WXE9		ENST00000267540.2:c.933A>C	14.37:g.81744722T>G						STON2_uc001xvk.1_Silent_p.A311A|STON2_uc010tvt.1_Silent_p.A108A	p.A311A	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0348)	4	1134	-			311					G3V2T7|Q17R24|Q59H11|Q6NT47|Q96RI7|Q96RU6	Silent	SNP	ENST00000267540.2	37	c.933A>C	CCDS9875.1																																																																																				0.498	STON2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000413317.1	NM_033104	
UNC79	57578	broad.mit.edu	37	14	94069684	94069684	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:94069684G>A	ENST00000393151.2	+	26	3674	c.3674G>A	c.(3673-3675)cGt>cAt	p.R1225H	UNC79_ENST00000555664.1_Missense_Mutation_p.R1225H|UNC79_ENST00000256339.4_Missense_Mutation_p.R1048H|UNC79_ENST00000553484.1_Missense_Mutation_p.R1225H			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1225					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						AAGAGTGTACGTTCCCTGAGG	0.527																																						uc001ybv.1																			0				ovary(10)|skin(4)|large_intestine(3)	17						c.(3142-3144)CGT>CAT		hypothetical protein LOC57578							143.0	125.0	131.0					14																	94069684		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94069684G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3674G>A	14.37:g.94069684G>A	ENSP00000376858:p.Arg1225His					KIAA1409_uc001ybs.1_Missense_Mutation_p.R1048H	p.R1048H	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	23	3226	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1225					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3143G>A		.	.	.	.	.	.	.	.	.	.	G	26.8	4.771943	0.90108	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.22945	1.96;1.93;2.02;1.96	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.47021	0.1423	L	0.42245	1.32	0.54753	D	0.999989	D	0.89917	1.0	D	0.79784	0.993	T	0.30001	-0.9993	10	0.66056	D	0.02	-17.3788	20.2723	0.98479	0.0:0.0:1.0:0.0	.	1225	C9JQL1	.	H	1048;1225;1225;1225;1225	ENSP00000256339:R1048H;ENSP00000450868:R1225H;ENSP00000451360:R1225H;ENSP00000376858:R1225H	ENSP00000256339:R1048H	R	+	2	0	KIAA1409	93139437	1.000000	0.71417	0.999000	0.59377	0.769000	0.43574	9.869000	0.99810	2.793000	0.96121	0.563000	0.77884	CGT		0.527	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395	
SERPINA12	145264	broad.mit.edu	37	14	94953697	94953697	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:94953697G>A	ENST00000341228.2	-	6	1983	c.1188C>T	c.(1186-1188)agC>agT	p.S396S	SERPINA12_ENST00000556881.1_Silent_p.S396S	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	396					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTATTTTCTCGCTGTAAATCA	0.527																																						uc001ydj.2																			0				central_nervous_system(2)|ovary(1)|lung(1)	4						c.(1186-1188)AGC>AGT		serine (or cysteine) proteinase inhibitor, clade							131.0	111.0	118.0					14																	94953697		2203	4300	6503	SO:0001819	synonymous_variant	145264				regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr14:94953697G>A	AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.1188C>T	14.37:g.94953697G>A							p.S396S	NM_173850	NP_776249	Q8IW75	SPA12_HUMAN		COAD - Colon adenocarcinoma(157;0.235)	6	1984	-			396						Silent	SNP	ENST00000341228.2	37	c.1188C>T	CCDS9926.1																																																																																				0.527	SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850	
AHNAK2	113146	broad.mit.edu	37	14	105411658	105411658	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:105411658G>A	ENST00000333244.5	-	7	10249	c.10130C>T	c.(10129-10131)cCg>cTg	p.P3377L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3377						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGGCCCTCCGGGAGCTTCAC	0.637																																						uc010axc.1																			0				ovary(1)	1						c.(10129-10131)CCG>CTG		AHNAK nucleoprotein 2							118.0	129.0	125.0					14																	105411658		1928	4129	6057	SO:0001583	missense	113146					nucleus		g.chr14:105411658G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.10130C>T	14.37:g.105411658G>A	ENSP00000353114:p.Pro3377Leu					AHNAK2_uc001ypx.2_Missense_Mutation_p.P3277L	p.P3377L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	10250	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3377					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.10130C>T	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	g	9.938	1.216568	0.22373	.	.	ENSG00000185567	ENST00000333244	T	0.03272	3.99	4.12	2.24	0.28232	.	.	.	.	.	T	0.07188	0.0182	M	0.94101	3.495	0.09310	N	1	P	0.36249	0.545	B	0.29267	0.1	T	0.34477	-0.9827	9	0.15066	T	0.55	.	6.3094	0.21156	0.1879:0.166:0.6461:0.0	.	3377	Q8IVF2	AHNK2_HUMAN	L	3377	ENSP00000353114:P3377L	ENSP00000353114:P3377L	P	-	2	0	AHNAK2	104482703	0.011000	0.17503	0.012000	0.15200	0.001000	0.01503	-0.714000	0.05002	0.967000	0.38186	-0.339000	0.08088	CCG		0.637	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
SHC4	399694	broad.mit.edu	37	15	49217141	49217141	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:49217141C>A	ENST00000332408.4	-	2	1019	c.591G>T	c.(589-591)atG>atT	p.M197I		NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	197	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|positive regulation of cell proliferation (GO:0008284)|regulation of gene expression (GO:0010468)|stem cell differentiation (GO:0048863)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CAACACAGCCCATGTACTACA	0.413																																						uc001zxb.1																			0				ovary(3)|pancreas(2)	5						c.(589-591)ATG>ATT		rai-like protein							97.0	86.0	90.0					15																	49217141		2197	4295	6492	SO:0001583	missense	399694				intracellular signal transduction	cell junction|postsynaptic membrane		g.chr15:49217141C>A	AY358250	CCDS10130.1	15q21.1-q21.2	2013-02-14			ENSG00000185634	ENSG00000185634		"""SH2 domain containing"""	16743	protein-coding gene	gene with protein product	"""rai-like protein"""						Standard	NM_203349		Approved	RaLP	uc001zxb.1	Q6S5L8	OTTHUMG00000131513	ENST00000332408.4:c.591G>T	15.37:g.49217141C>A	ENSP00000329668:p.Met197Ile						p.M197I	NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)	2	1020	-		all_lung(180;0.00466)	197			PID.		Q6UXQ3|Q8IYW3	Missense_Mutation	SNP	ENST00000332408.4	37	c.591G>T	CCDS10130.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.558919	0.45590	.	.	ENSG00000185634	ENST00000332408	T	0.18338	2.22	5.13	4.14	0.48551	Phosphotyrosine interaction (PID/PI) (1);Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.197535	0.44285	D	0.000475	T	0.16727	0.0402	L	0.48174	1.505	0.80722	D	1	B	0.09022	0.002	B	0.20767	0.031	T	0.02805	-1.1108	10	0.35671	T	0.21	-29.9283	12.7203	0.57137	0.0:0.9075:0.0:0.0925	.	197	Q6S5L8	SHC4_HUMAN	I	197	ENSP00000329668:M197I	ENSP00000329668:M197I	M	-	3	0	SHC4	47004433	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.215000	0.51169	2.656000	0.90262	0.655000	0.94253	ATG		0.413	SHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254371.1	NM_203349	
MYO5C	55930	broad.mit.edu	37	15	52537563	52537563	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:52537563G>A	ENST00000261839.7	-	18	2327	c.2166C>T	c.(2164-2166)caC>caT	p.H722H	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	722	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GGATGAGTCTGTGTAAAACCA	0.483																																						uc010bff.2																			0				ovary(7)|central_nervous_system(3)|large_intestine(2)|skin(2)	14						c.(2164-2166)CAC>CAT		myosin VC							175.0	180.0	179.0					15																	52537563		2013	4167	6180	SO:0001819	synonymous_variant	55930					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr15:52537563G>A	AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.2166C>T	15.37:g.52537563G>A						MYO5C_uc010uga.1_RNA|MYO5C_uc010ugb.1_RNA	p.H722H	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN		all cancers(107;0.0137)	18	2303	-			722			Myosin head-like.		Q6P1W8	Silent	SNP	ENST00000261839.7	37	c.2166C>T	CCDS42036.1																																																																																				0.483	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
CD276	80381	broad.mit.edu	37	15	73994767	73994767	+	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:73994767A>G	ENST00000318443.5	+	3	553	c.251A>G	c.(250-252)gAc>gGc	p.D84G	CD276_ENST00000561213.1_Missense_Mutation_p.D84G|CD276_ENST00000537340.2_5'UTR|CD276_ENST00000318424.5_Missense_Mutation_p.D84G|CD276_ENST00000564751.1_Missense_Mutation_p.D84G	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	84	Ig-like V-type 1.				cell proliferation (GO:0008283)|immune response (GO:0006955)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interleukin-2 biosynthetic process (GO:0045085)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of bone mineralization (GO:0030501)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GAGGGCCAGGACCAGGGCAGC	0.647																																						uc002avv.1																			0				skin(1)	1						c.(250-252)GAC>GGC		CD276 antigen isoform a							56.0	47.0	50.0					15																	73994767		2198	4297	6495	SO:0001583	missense	80381				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding	g.chr15:73994767A>G	AF302102	CCDS10251.1, CCDS32288.1	15q23-q24	2013-01-11	2006-03-28		ENSG00000103855	ENSG00000103855		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19137	protein-coding gene	gene with protein product		605715	"""CD276 antigen"""			11224528, 12055244	Standard	XM_005254699		Approved	B7-H3, B7H3, B7RP-2	uc002avv.1	Q5ZPR3	OTTHUMG00000137585	ENST00000318443.5:c.251A>G	15.37:g.73994767A>G	ENSP00000320084:p.Asp84Gly					CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Missense_Mutation_p.D84G|CD276_uc002avw.1_Missense_Mutation_p.D84G|CD276_uc010ulb.1_Missense_Mutation_p.D30G|CD276_uc002avx.2_5'Flank	p.D84G	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN			3	485	+			84			Ig-like V-type 1.|Extracellular (Potential).		Q6P5Y4|Q6UXI2|Q8NBI8|Q8NC34|Q8NCB6|Q9BXR1	Missense_Mutation	SNP	ENST00000318443.5	37	c.251A>G	CCDS32288.1	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787214	0.49997	.	.	ENSG00000103855	ENST00000318424;ENST00000318443;ENST00000379823;ENST00000543481	T;T	0.02606	4.23;4.23	2.84	2.84	0.33178	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.10766	0.0263	L	0.58810	1.83	0.54753	D	0.999988	D;D;D;D	0.89917	1.0;0.99;1.0;1.0	D;P;D;D	0.87578	0.992;0.814;0.998;0.996	T	0.02553	-1.1142	9	0.59425	D	0.04	-5.1596	11.5181	0.50534	1.0:0.0:0.0:0.0	.	30;84;84;84	B4DK26;Q5ZPR3-2;Q5ZPR3;Q5ZPR3-4	.;.;CD276_HUMAN;.	G	84	ENSP00000320058:D84G;ENSP00000320084:D84G	ENSP00000320058:D84G	D	+	2	0	CD276	71781820	1.000000	0.71417	0.997000	0.53966	0.169000	0.22640	6.535000	0.73838	1.537000	0.49254	0.260000	0.18958	GAC		0.647	CD276-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268979.1	NM_025240	
CIITA	4261	broad.mit.edu	37	16	11004047	11004047	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:11004047C>T	ENST00000324288.8	+	13	2952	c.2819C>T	c.(2818-2820)aCg>aTg	p.T940M	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.T356M	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	940			Missing (in BLS2). {ECO:0000269|PubMed:8402893}.		aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTCTCCAGGACGAGAAGTTCC	0.572			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	uc002dai.3				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	FLJ27352|CD274|CD273|RALGDS|RUNDC2A|C16orf75		PMBL|Hodgkin Lymphona|		0				central_nervous_system(1)	1						c.(2818-2820)ACG>ATG		class II transactivator							68.0	53.0	58.0					16																	11004047		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11004047C>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2819C>T	16.37:g.11004047C>T	ENSP00000316328:p.Thr940Met					CIITA_uc002daj.3_Missense_Mutation_p.T941M|CIITA_uc002dak.3_Missense_Mutation_p.T356M|CIITA_uc010bup.1_Nonsense_Mutation_p.R337*	p.T940M	NM_000246	NP_000237	P33076	C2TA_HUMAN			13	2952	+			940		Missing (in BLS2).			A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.2819C>T	CCDS10544.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.39|12.39	1.923097|1.923097	0.33908|0.33908	.|.	.|.	ENSG00000179583|ENSG00000179583	ENST00000537380|ENST00000324288;ENST00000381835	.|T;T	.|0.73152	.|-0.72;1.63	5.05|5.05	1.45|1.45	0.22620|0.22620	.|.	.|1.214130	.|0.06229	.|N	.|0.688335	.|T	.|0.56016	.|0.1957	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	.|P;P;B	.|0.41313	.|0.745;0.602;0.452	.|B;B;B	.|0.29942	.|0.109;0.075;0.032	.|T	.|0.51934	.|-0.8642	.|10	0.02654|0.56958	T|D	1|0.05	.|.	3.0651|3.0651	0.06212|0.06212	0.0:0.4376:0.2261:0.3363|0.0:0.4376:0.2261:0.3363	.|.	.|356;940;940	.|E9PFE0;A0N0N9;P33076	.|.;.;C2TA_HUMAN	X|M	337|940;356	.|ENSP00000316328:T940M;ENSP00000371257:T356M	ENSP00000446228:R337X|ENSP00000316328:T940M	R|T	+|+	1|2	2|0	CIITA|CIITA	10911548|10911548	0.167000|0.167000	0.22975|0.22975	0.034000|0.034000	0.17996|0.17996	0.515000|0.515000	0.34225|0.34225	0.756000|0.756000	0.26419|0.26419	0.454000|0.454000	0.26884|0.26884	-0.258000|-0.258000	0.10820|0.10820	CGA|ACG		0.572	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246	
IL4R	3566	broad.mit.edu	37	16	27373866	27373866	+	Missense_Mutation	SNP	G	G	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:27373866G>C	ENST00000395762.2	+	11	1452	c.1193G>C	c.(1192-1194)gGa>gCa	p.G398A	IL4R_ENST00000170630.2_Missense_Mutation_p.G398A|IL4R_ENST00000380922.3_Missense_Mutation_p.G383A|IL4R_ENST00000543915.2_Missense_Mutation_p.G398A	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	398					defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCCAGGAGGGAAGGGAGGGC	0.597																																						uc002don.2																			0				ovary(1)|skin(1)	2						c.(1192-1194)GGA>GCA		interleukin 4 receptor alpha chain isoform a							67.0	69.0	68.0					16																	27373866		2197	4300	6497	SO:0001583	missense	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27373866G>C	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1193G>C	16.37:g.27373866G>C	ENSP00000379111:p.Gly398Ala					IL4R_uc002dop.3_Missense_Mutation_p.G383A|IL4R_uc010bxy.2_Missense_Mutation_p.G398A|IL4R_uc002doo.2_Missense_Mutation_p.G238A	p.G398A	NM_000418	NP_000409	P24394	IL4RA_HUMAN			11	1435	+			398			Cytoplasmic (Potential).		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Missense_Mutation	SNP	ENST00000395762.2	37	c.1193G>C	CCDS10629.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290715	0.40494	.	.	ENSG00000077238	ENST00000395762;ENST00000543915;ENST00000380922;ENST00000170630	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.42	3.19	0.36642	.	3.982570	0.00575	N	0.000307	T	0.21801	0.0525	L	0.57536	1.79	0.09310	N	1	D;D;D	0.58620	0.983;0.983;0.983	P;P;P	0.53313	0.723;0.723;0.723	T	0.07195	-1.0785	10	0.66056	D	0.02	-29.2701	3.6213	0.08097	0.1439:0.0:0.6085:0.2476	.	383;398;398	B4E076;B9EGC0;P24394	.;.;IL4RA_HUMAN	A	398;398;383;398	ENSP00000379111:G398A;ENSP00000441667:G398A;ENSP00000370309:G383A;ENSP00000170630:G398A	ENSP00000170630:G398A	G	+	2	0	IL4R	27281367	0.962000	0.33011	0.119000	0.21687	0.204000	0.24138	1.901000	0.39838	1.237000	0.43756	0.655000	0.94253	GGA		0.597	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4		
E2F4	1874	broad.mit.edu	37	16	67235531	67235531	+	IGR	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:67235531G>A	ENST00000379378.3	+	0	2096				ELMO3_ENST00000477898.1_Missense_Mutation_p.D189N|ELMO3_ENST00000393997.2_Missense_Mutation_p.D355N|MIR328_ENST00000385213.1_RNA|ELMO3_ENST00000360833.1_Missense_Mutation_p.D338N	NM_001950.3	NP_001941.2	Q16254	E2F4_HUMAN	E2F transcription factor 4, p107/p130-binding						blood circulation (GO:0008015)|cell volume homeostasis (GO:0006884)|cilium assembly (GO:0042384)|epithelial cell development (GO:0002064)|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 proliferation (GO:0042127)|regulation of cell size (GO:0008361)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|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)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		GACGCCCCTGGACCCCTACAG	0.612																																						uc002esa.2																			0					0						c.(1063-1065)GAC>AAC		engulfment and cell motility 3							42.0	48.0	46.0					16																	67235531		2050	4209	6259	SO:0001628	intergenic_variant	79767				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	g.chr16:67235531G>A	BC021050	CCDS32464.1	16q22.1	2014-05-06			ENSG00000205250	ENSG00000205250			3118	protein-coding gene	gene with protein product		600659				7958924, 7892279	Standard	NM_001950		Approved	E2F-4	uc002erz.3	Q16254	OTTHUMG00000172975		16.37:g.67235531G>A						ELMO3_uc002esb.2_Missense_Mutation_p.D338N|ELMO3_uc002esc.2_Missense_Mutation_p.D189N	p.D355N	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)	10	1106	+		Ovarian(137;0.0563)	302					A6NGR8|B5BU56|Q12991|Q15328	Missense_Mutation	SNP	ENST00000379378.3	37	c.1063G>A	CCDS32464.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.391009	0.62066	.	.	ENSG00000102890	ENST00000360833;ENST00000393997	T;T	0.34072	1.38;1.38	5.31	5.31	0.75309	Engulfment/cell motility, ELMO (1);	0.000000	0.85682	D	0.000000	T	0.55689	0.1936	L	0.54965	1.715	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	T	0.48592	-0.9022	10	0.31617	T	0.26	-26.8066	17.5558	0.87889	0.0:0.0:1.0:0.0	.	302;338;355	Q96BJ8;F8W9E7;Q96BJ8-3	ELMO3_HUMAN;.;.	N	338;355	ENSP00000354077:D338N;ENSP00000377566:D355N	ENSP00000354077:D338N	D	+	1	0	ELMO3	65793032	1.000000	0.71417	0.996000	0.52242	0.063000	0.16089	9.824000	0.99380	2.484000	0.83849	0.561000	0.74099	GAC		0.612	E2F4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421565.1	NM_001950	
RLTPR	146206	broad.mit.edu	37	16	67681849	67681849	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:67681849C>T	ENST00000334583.6	+	13	1387	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	RLTPR_ENST00000545661.1_Silent_p.S353S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	353					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGGGGCCTCCGAGGACAGTG	0.662																																						uc002etn.2																			0				breast(1)	1						c.(1057-1059)TCC>TCT		RGD motif, leucine rich repeats, tropomodulin							22.0	26.0	24.0					16																	67681849		1932	4127	6059	SO:0001819	synonymous_variant	146206							g.chr16:67681849C>T	AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.1059C>T	16.37:g.67681849C>T						RLTPR_uc010cel.1_Silent_p.S353S|RLTPR_uc010vjr.1_Silent_p.S353S	p.S353S	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)	13	1179	+		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)	353			LRR 6.		B8X2Z3	Silent	SNP	ENST00000334583.6	37	c.1059C>T	CCDS45513.1																																																																																				0.662	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467858.1	NM_001013838	
TP53	7157	broad.mit.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)	CAGGGGAGTACTGTAGGAAGA	0.552		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		51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	p.?(31)|p.0?(7)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(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.e5-1	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							42.0	42.0	42.0					17																	7578555		2203	4300	6503	SO:0001630	splice_region_variant	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.chr17:7578555C>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.376-1G>A	17.37:g.7578555C>T		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.2_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'UTR|TP53_uc010cng.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.1_Splice_Site_p.Y87_splice	p.Y126_splice	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	570	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37	c.376_splice	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431133	0.62844	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron
SPATA32	124783	broad.mit.edu	37	17	43332647	43332647	+	Missense_Mutation	SNP	C	C	T	rs144271763		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:43332647C>T	ENST00000331780.4	-	4	997	c.902G>A	c.(901-903)cGc>cAc	p.R301H	MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|SPATA32_ENST00000543122.1_Missense_Mutation_p.R280H|MAP3K14-AS1_ENST00000591263.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	301					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											TCTGGCTTCGCGTGGTTTCTC	0.567													C|||	1	0.000199681	0.0	0.0	5008	,	,		21835	0.0		0.0	False		,,,				2504	0.001					uc002iis.1																			0				large_intestine(1)|ovary(1)	2						c.(901-903)CGC>CAC		hypothetical protein LOC124783		C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	177.0	160.0	166.0		902	-8.3	0.0	17	dbSNP_134	166	0,8600		0,0,4300	no	missense	C17orf46	NM_152343.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	301/385	43332647	1,13005	2203	4300	6503	SO:0001583	missense	124783							g.chr17:43332647C>T	AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.902G>A	17.37:g.43332647C>T	ENSP00000331532:p.Arg301His					LOC100133991_uc010dah.2_Intron|C17orf46_uc010wjk.1_Missense_Mutation_p.R280H	p.R301H	NM_152343	NP_689556	Q96LK8	CQ046_HUMAN			4	998	-			301					Q7Z4U1|Q8N6V6	Missense_Mutation	SNP	ENST00000331780.4	37	c.902G>A	CCDS32669.1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.688891	0.29962	2.27E-4	0.0	ENSG00000184361	ENST00000331780;ENST00000543122	T;T	0.42513	0.97;0.97	4.17	-8.33	0.00992	.	6.284330	0.00447	N	0.000097	T	0.25827	0.0629	L	0.29908	0.895	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.11743	-1.0575	10	0.41790	T	0.15	-11.7678	3.3627	0.07193	0.268:0.4596:0.1055:0.167	.	301	Q96LK8	CQ046_HUMAN	H	301;280	ENSP00000331532:R301H;ENSP00000442724:R280H	ENSP00000331532:R301H	R	-	2	0	C17orf46	40688430	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.677000	0.05215	-3.233000	0.00209	-2.174000	0.00321	CGC		0.567	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450946.1	NM_152343	
SCN4A	6329	broad.mit.edu	37	17	62034852	62034852	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:62034852C>T	ENST00000435607.1	-	13	2122	c.2046G>A	c.(2044-2046)tcG>tcA	p.S682S	SCN4A_ENST00000578147.1_Silent_p.S682S	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	682					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)			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)	GCGTTGGCCACGACTTGGCCA	0.592																																						uc002jds.1																			0				ovary(1)|pancreas(1)|skin(1)	3						c.(2044-2046)TCG>TCA		voltage-gated sodium channel type 4 alpha	Lamotrigine(DB00555)						70.0	79.0	76.0					17																	62034852		2158	4255	6413	SO:0001819	synonymous_variant	6329				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr17:62034852C>T	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.2046G>A	17.37:g.62034852C>T							p.S682S	NM_000334	NP_000325	P35499	SCN4A_HUMAN			13	2123	-			682			Helical; Voltage-sensor; Name=S4 of repeat II; (Potential).|II.		Q15478|Q16447|Q7Z6B1	Silent	SNP	ENST00000435607.1	37	c.2046G>A	CCDS45761.1																																																																																				0.592	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_000334	
EVPL	2125	broad.mit.edu	37	17	74011625	74011625	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:74011625C>T	ENST00000301607.3	-	15	2048	c.1795G>A	c.(1795-1797)Gtg>Atg	p.V599M	EVPL_ENST00000586740.1_Missense_Mutation_p.V621M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	599	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGGGGCCCACGGGCCGCGTG	0.647																																						uc002jqi.2																			0				pancreas(2)|central_nervous_system(1)|skin(1)	4						c.(1795-1797)GTG>ATG		envoplakin							62.0	56.0	58.0					17																	74011625		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74011625C>T	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.1795G>A	17.37:g.74011625C>T	ENSP00000301607:p.Val599Met					EVPL_uc010wss.1_Missense_Mutation_p.V621M|EVPL_uc010wst.1_Missense_Mutation_p.V69M	p.V599M	NM_001988	NP_001979	Q92817	EVPL_HUMAN			15	2023	-			599			Globular 1.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.1795G>A	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	C	10.33	1.319147	0.23994	.	.	ENSG00000167880	ENST00000301607	T	0.63255	-0.03	5.15	-1.02	0.10135	.	1.557430	0.03542	N	0.224101	T	0.51483	0.1677	L	0.44542	1.39	0.09310	N	1	B;B	0.19817	0.039;0.025	B;B	0.11329	0.006;0.006	T	0.36792	-0.9733	10	0.46703	T	0.11	-3.1389	4.3546	0.11172	0.3403:0.3662:0.0:0.2934	.	621;599	B7ZLH8;Q92817	.;EVPL_HUMAN	M	599	ENSP00000301607:V599M	ENSP00000301607:V599M	V	-	1	0	EVPL	71523220	0.000000	0.05858	0.002000	0.10522	0.549000	0.35272	-0.471000	0.06631	0.143000	0.18926	0.455000	0.32223	GTG		0.647	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988	
SLC14A2	8170	broad.mit.edu	37	18	43262345	43262345	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr18:43262345C>T	ENST00000255226.6	+	20	3440	c.2624C>T	c.(2623-2625)aCg>aTg	p.T875M	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000586448.1_Missense_Mutation_p.T875M|SLC14A2_ENST00000589658.1_Missense_Mutation_p.T352M	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	875					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGCTCCTGACGACCAATAAC	0.547																																						uc010dnj.2																			0				upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|skin(1)	4						c.(2623-2625)ACG>ATG		solute carrier family 14 (urea transporter),							294.0	283.0	287.0					18																	43262345		2203	4300	6503	SO:0001583	missense	8170					apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity	g.chr18:43262345C>T	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2624C>T	18.37:g.43262345C>T	ENSP00000255226:p.Thr875Met					SLC14A2_uc002lbe.2_Missense_Mutation_p.T875M	p.T875M	NM_007163	NP_009094	Q15849	UT2_HUMAN			21	2945	+			875					A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	c.2624C>T	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149290	0.78001	.	.	ENSG00000132874	ENST00000255226	T	0.52754	0.65	5.26	4.39	0.52855	.	0.098474	0.44097	D	0.000487	T	0.73249	0.3563	M	0.92649	3.33	0.80722	D	1	D	0.65815	0.995	D	0.65140	0.932	T	0.80567	-0.1325	10	0.87932	D	0	-8.4037	13.6071	0.62054	0.0:0.9241:0.0:0.0759	.	875	Q15849	UT2_HUMAN	M	875	ENSP00000255226:T875M	ENSP00000255226:T875M	T	+	2	0	SLC14A2	41516343	0.998000	0.40836	0.944000	0.38274	0.993000	0.82548	3.929000	0.56514	1.213000	0.43380	0.561000	0.74099	ACG		0.547	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
MUC16	94025	broad.mit.edu	37	19	9033637	9033637	+	Silent	SNP	G	G	A	rs370710119		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:9033637G>A	ENST00000397910.4	-	9	36503	c.36300C>T	c.(36298-36300)aaC>aaT	p.N12100N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12102	SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				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)				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						TCTCTGTGGCGTTGAACTTCC	0.597																																						uc002mkp.2																			0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(36298-36300)AAC>AAT		mucin 16		G		1,4231		0,1,2115	114.0	115.0	115.0		36300	0.7	0.3	19		115	0,8426		0,0,4213	no	coding-synonymous	MUC16	NM_024690.2		0,1,6328	AA,AG,GG		0.0,0.0236,0.0079		12100/14508	9033637	1,12657	2116	4213	6329	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9033637G>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.36300C>T	19.37:g.9033637G>A							p.N12100N	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			9	36504	-			12102			SEA 1.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.36300C>T	CCDS54212.1																																																																																				0.597	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
ZNF439	90594	broad.mit.edu	37	19	11978931	11978931	+	Silent	SNP	T	T	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:11978931T>C	ENST00000304030.2	+	3	1247	c.1047T>C	c.(1045-1047)tcT>tcC	p.S349S	ZNF439_ENST00000592534.1_Intron|ZNF439_ENST00000455282.1_Silent_p.S213S	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	349					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GAATGCACTCTGGAGAAAGAC	0.373																																						uc002mss.2																			0				skin(1)	1						c.(1045-1047)TCT>TCC		zinc finger protein 439							87.0	88.0	88.0					19																	11978931		2203	4300	6503	SO:0001819	synonymous_variant	90594				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:11978931T>C	AL833935	CCDS12268.1	19p13.13	2013-01-08			ENSG00000171291	ENSG00000171291		"""Zinc fingers, C2H2-type"", ""-"""	20873	protein-coding gene	gene with protein product							Standard	NM_152262		Approved	DKFZp571K0837	uc002mss.3	Q8NDP4	OTTHUMG00000156527	ENST00000304030.2:c.1047T>C	19.37:g.11978931T>C						ZNF439_uc002msr.2_Silent_p.S213S	p.S349S	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN			3	1175	+			349					Q8IYZ7|Q96SU1	Silent	SNP	ENST00000304030.2	37	c.1047T>C	CCDS12268.1																																																																																				0.373	ZNF439-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344513.1		
SLC1A6	6511	broad.mit.edu	37	19	15083572	15083572	+	Missense_Mutation	SNP	G	G	A	rs558935555		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:15083572G>A	ENST00000221742.3	-	1	158	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	SLC1A6_ENST00000544886.2_Missense_Mutation_p.R51C|SLC1A6_ENST00000598504.1_Missense_Mutation_p.R51C|SLC1A6_ENST00000600144.1_Missense_Mutation_p.R51C|SLC1A6_ENST00000430939.2_Missense_Mutation_p.A55V	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	51					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						CGCAGGAAGCGCAGCACGTGC	0.677													G|||	1	0.000199681	0.0	0.0	5008	,	,		18600	0.0		0.0	False		,,,				2504	0.001					uc002naa.1																			0				pancreas(3)|ovary(2)|skin(1)	6						c.(151-153)CGC>TGC		solute carrier family 1 (high affinity	L-Glutamic Acid(DB00142)						29.0	29.0	29.0					19																	15083572		2203	4300	6503	SO:0001583	missense	6511				synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr19:15083572G>A		CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.151C>T	19.37:g.15083572G>A	ENSP00000221742:p.Arg51Cys					SLC1A6_uc010dzu.1_Missense_Mutation_p.R51C|SLC1A6_uc010xod.1_Missense_Mutation_p.A55V|SLC1A6_uc002nab.2_Missense_Mutation_p.R51C|SLC1A6_uc002nac.2_Missense_Mutation_p.R51C|SLC1A6_uc002nad.1_Missense_Mutation_p.R51C	p.R51C	NM_005071	NP_005062	P48664	EAA4_HUMAN			1	159	-			51			Cytoplasmic (Potential).		Q8N753	Missense_Mutation	SNP	ENST00000221742.3	37	c.151C>T	CCDS12321.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.77|14.77	2.635153|2.635153	0.47049|0.47049	.|.	.|.	ENSG00000105143|ENSG00000105143	ENST00000430939|ENST00000221742;ENST00000544886;ENST00000542610	T|T;T	0.74209|0.56776	-0.82|0.44;1.17	4.46|4.46	3.36|3.36	0.38483|0.38483	.|.	.|0.305931	.|0.32868	.|N	.|0.005549	T|T	0.44705|0.44705	0.1306|0.1306	N|N	0.19112|0.19112	0.55|0.55	0.34432|0.34432	D|D	0.698647|0.698647	P|D;D;D	0.42692|0.64830	0.787|0.989;0.989;0.994	B|P;P;P	0.30251|0.51657	0.113|0.613;0.613;0.676	T|T	0.59327|0.59327	-0.7475|-0.7475	9|10	0.87932|0.66056	D|D	0|0.02	-17.8233|-17.8233	9.6915|9.6915	0.40131|0.40131	0.0:0.0:0.794:0.206|0.0:0.0:0.794:0.206	.|.	55|51;52;51	E7EV13|Q8N753;Q59GB0;P48664	.|.;.;EAA4_HUMAN	V|C	55|51;51;52	ENSP00000409386:A55V|ENSP00000221742:R51C;ENSP00000446175:R51C	ENSP00000409386:A55V|ENSP00000221742:R51C	A|R	-|-	2|1	0|0	SLC1A6|SLC1A6	14944572|14944572	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.311000|0.311000	0.27955|0.27955	1.675000|1.675000	0.37555|0.37555	2.306000|2.306000	0.77630|0.77630	0.313000|0.313000	0.20887|0.20887	GCG|CGC		0.677	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466283.1	NM_005071	
CYP2A13	1553	broad.mit.edu	37	19	41597756	41597756	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:41597756G>A	ENST00000330436.3	+	5	774	c.774G>A	c.(772-774)acG>acA	p.T258T		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	258					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.T258T(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Methoxsalen(DB00553)|Nicotine(DB00184)|Testosterone(DB00624)	ACCAGCGCACGCTGGATCCCA	0.587																																						uc002opt.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|skin(1)	3						c.(772-774)ACG>ACA		cytochrome P450, family 2, subfamily A,	Clomipramine(DB01242)|Nicotine(DB00184)						166.0	127.0	140.0					19																	41597756		2203	4300	6503	SO:0001819	synonymous_variant	1553				xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	g.chr19:41597756G>A	U22028	CCDS12571.1	19q13.2	2013-11-11	2003-01-14		ENSG00000197838	ENSG00000197838		"""Cytochrome P450s"""	2608	protein-coding gene	gene with protein product		608055	"""cytochrome P450, subfamily IIA (phenobarbital-inducible), polypeptide 13"""			7668294, 15128046	Standard	NM_000766		Approved	CPAD, CYP2A	uc002opt.4	Q16696	OTTHUMG00000182762	ENST00000330436.3:c.774G>A	19.37:g.41597756G>A							p.T258T	NM_000766	NP_000757	Q16696	CP2AD_HUMAN			5	783	+			258					Q53YR8|Q6R569|Q6R570|Q9H2X2	Silent	SNP	ENST00000330436.3	37	c.774G>A	CCDS12571.1																																																																																				0.587	CYP2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463505.1	NM_000766	
ATP1A3	478	broad.mit.edu	37	19	42489240	42489240	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:42489240C>T	ENST00000302102.5	-	8	973	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	ATP1A3_ENST00000545399.1_Missense_Mutation_p.A288T|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000602133.1_Missense_Mutation_p.A245T|ATP1A3_ENST00000543770.1_Missense_Mutation_p.A286T	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	275					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATCTCGATGGCGATGGGCGTC	0.632																																						uc002osg.2																			0				ovary(1)|pancreas(1)	2						c.(823-825)GCC>ACC		Na+/K+ -ATPase alpha 3 subunit							121.0	94.0	103.0					19																	42489240		2203	4300	6503	SO:0001583	missense	478				ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	g.chr19:42489240C>T		CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.823G>A	19.37:g.42489240C>T	ENSP00000302397:p.Ala275Thr					ATP1A3_uc010xwf.1_Missense_Mutation_p.A286T|ATP1A3_uc010xwg.1_Missense_Mutation_p.A245T|ATP1A3_uc010xwh.1_Missense_Mutation_p.A288T|ATP1A3_uc002osh.2_Missense_Mutation_p.A275T	p.A275T	NM_152296	NP_689509	P13637	AT1A3_HUMAN			8	977	-			275			Cytoplasmic (Potential).		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	ENST00000302102.5	37	c.823G>A	CCDS12594.1	.	.	.	.	.	.	.	.	.	.	C	27.5	4.836493	0.91117	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38	4.28	4.28	0.50868	ATPase, P-type, ATPase-associated domain (1);	0.124291	0.53938	D	0.000052	D	0.91250	0.7242	L	0.45137	1.4	0.80722	D	1	P;D;D;D	0.63880	0.942;0.972;0.993;0.977	P;P;D;P	0.65773	0.647;0.782;0.938;0.861	D	0.92120	0.5703	10	0.66056	D	0.02	.	14.613	0.68529	0.0:1.0:0.0:0.0	.	288;286;275;275	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	T	275;275;288;245;19;286	ENSP00000302397:A275T;ENSP00000411503:A275T;ENSP00000444688:A288T;ENSP00000437577:A286T	ENSP00000302397:A275T	A	-	1	0	ATP1A3	47181080	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.982000	0.70532	2.126000	0.65437	0.491000	0.48974	GCC		0.632	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000268107.1	NM_152296	
ZNF324	25799	broad.mit.edu	37	19	58982200	58982200	+	Missense_Mutation	SNP	G	G	A	rs200934507		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:58982200G>A	ENST00000536459.2	+	4	1050	c.341G>A	c.(340-342)gGt>gAt	p.G114D	ZNF324_ENST00000535298.1_5'Flank|ZNF324_ENST00000196482.3_Missense_Mutation_p.G114D			O75467	Z324A_HUMAN	zinc finger protein 324	114					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.G114D(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		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)		CCTGTTGCCGGTGCCTGCCAC	0.567																																						uc002qsw.1																			1	Substitution - Missense(1)		endometrium(1)		0						c.(340-342)GGT>GAT		zinc finger protein 324							89.0	98.0	95.0					19																	58982200		2203	4300	6503	SO:0001583	missense	25799				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:58982200G>A	AF060503	CCDS12981.1	19q13.43	2013-01-08				ENSG00000083812		"""Zinc fingers, C2H2-type"", ""-"""	14096	protein-coding gene	gene with protein product							Standard	NM_014347		Approved	ZF5128, ZNF324A	uc002qsw.2	O75467		ENST00000536459.2:c.341G>A	19.37:g.58982200G>A	ENSP00000444812:p.Gly114Asp					ZNF324_uc002qsx.1_5'Flank	p.G114D	NM_014347	NP_055162	O75467	Z324A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)	4	435	+		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)	114					B3KRX1	Missense_Mutation	SNP	ENST00000536459.2	37	c.341G>A	CCDS12981.1	.	.	.	.	.	.	.	.	.	.	G	3.699	-0.062018	0.07317	.	.	ENSG00000083812	ENST00000378044;ENST00000196482;ENST00000536459;ENST00000539101	T;T	0.05199	3.48;3.48	3.29	-0.27	0.12926	.	0.444806	0.16783	N	0.199703	T	0.03915	0.0110	L	0.34521	1.04	0.09310	N	1	B	0.13145	0.007	B	0.12156	0.007	T	0.46512	-0.9186	10	0.11794	T	0.64	.	5.4243	0.16417	0.1191:0.3997:0.4812:0.0	.	114	O75467	Z324A_HUMAN	D	114;114;114;104	ENSP00000196482:G114D;ENSP00000444812:G114D	ENSP00000196482:G114D	G	+	2	0	ZNF324	63674012	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.427000	0.21379	0.051000	0.15978	0.555000	0.69702	GGT		0.567	ZNF324-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467044.1	NM_014347	
M1AP	130951	broad.mit.edu	37	2	74842218	74842218	+	Missense_Mutation	SNP	T	T	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:74842218T>C	ENST00000290536.5	-	3	415	c.299A>G	c.(298-300)cAg>cGg	p.Q100R	M1AP_ENST00000409585.1_Missense_Mutation_p.Q100R|M1AP_ENST00000358434.2_5'UTR|M1AP_ENST00000536235.1_Missense_Mutation_p.Q100R	NM_001281296.1|NM_138804.3	NP_001268225.1|NP_620159.2	Q8TC57	M1AP_HUMAN	meiosis 1 associated protein	100					cell differentiation (GO:0030154)|chromatin assembly (GO:0031497)|female gamete generation (GO:0007292)|male meiosis chromosome separation (GO:0051308)|RNA processing (GO:0006396)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											CCCTTCTCTCTGTAACATGCG	0.483																																						uc002smy.2																			0				ovary(1)|pancreas(1)	2						c.(298-300)CAG>CGG		hypothetical protein LOC130951							189.0	174.0	179.0					2																	74842218		2203	4300	6503	SO:0001583	missense	130951				chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane		g.chr2:74842218T>C		CCDS33229.1, CCDS62941.1	2p13.1	2013-02-05	2013-02-05	2013-01-16	ENSG00000159374	ENSG00000159374			25183	protein-coding gene	gene with protein product	"""meiosis 1 arresting protein"", ""spermatogenesis associated 37"""		"""chromosome 2 open reading frame 65"""	C2orf65		16881047, 23269666	Standard	NM_138804		Approved	D6Mm5e, SPATA37	uc002smy.3	Q8TC57	OTTHUMG00000152918	ENST00000290536.5:c.299A>G	2.37:g.74842218T>C	ENSP00000290536:p.Gln100Arg					C2orf65_uc010ysa.1_Missense_Mutation_p.Q100R|C2orf65_uc002smz.2_Missense_Mutation_p.Q100R	p.Q100R	NM_138804	NP_620159	Q8TC57	CB065_HUMAN			3	416	-			100					B7Z6E7|E9PGG8|Q6ZP30|Q96L07	Missense_Mutation	SNP	ENST00000290536.5	37	c.299A>G	CCDS33229.1	.	.	.	.	.	.	.	.	.	.	T	1.695	-0.502906	0.04261	.	.	ENSG00000159374	ENST00000290536;ENST00000409585;ENST00000536235;ENST00000421985	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.77	0.669	0.17918	.	0.193107	0.45126	D	0.000390	T	0.24084	0.0583	L	0.60455	1.87	0.20489	N	0.999893	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.06405	0.002;0.002;0.002	T	0.23476	-1.0187	10	0.20519	T	0.43	-2.4133	7.7524	0.28904	0.0:0.0861:0.5286:0.3853	.	100;100;100	E9PGG8;Q8TC57-2;Q8TC57	.;.;CB065_HUMAN	R	100	ENSP00000290536:Q100R;ENSP00000386793:Q100R;ENSP00000445662:Q100R;ENSP00000414882:Q100R	ENSP00000290536:Q100R	Q	-	2	0	C2orf65	74695726	0.970000	0.33590	0.005000	0.12908	0.757000	0.42996	1.929000	0.40114	0.093000	0.17368	-0.386000	0.06593	CAG		0.483	M1AP-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328569.1	NM_138804	
IL18RAP	8807	broad.mit.edu	37	2	103039783	103039783	+	Nonsense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:103039783C>T	ENST00000264260.2	+	3	635	c.46C>T	c.(46-48)Cga>Tga	p.R16*	IL18RAP_ENST00000409369.1_5'UTR	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	16					cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGCAGGAGAGCGAATTAAAGG	0.408																																						uc002tbx.2																			0				skin(3)|ovary(2)	5						c.(46-48)CGA>TGA		interleukin 18 receptor accessory protein							257.0	250.0	253.0					2																	103039783		2203	4300	6503	SO:0001587	stop_gained	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103039783C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.46C>T	2.37:g.103039783C>T	ENSP00000264260:p.Arg16*					IL18RAP_uc010fiz.2_5'UTR	p.R16*	NM_003853	NP_003844	O95256	I18RA_HUMAN			3	530	+			16					B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Nonsense_Mutation	SNP	ENST00000264260.2	37	c.46C>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	36	5.722237	0.96839	.	.	ENSG00000115607	ENST00000264260;ENST00000450855	.	.	.	5.67	3.03	0.35002	.	0.655438	0.15220	N	0.273989	.	.	.	.	.	.	0.19300	N	0.999975	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9588	0.09401	0.6568:0.2144:0.1288:0.0	.	.	.	.	X	16	.	ENSP00000264260:R16X	R	+	1	2	IL18RAP	102406215	0.006000	0.16342	0.044000	0.18714	0.011000	0.07611	0.139000	0.16036	1.085000	0.41206	-0.335000	0.08231	CGA		0.408	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853	
ACOXL	55289	broad.mit.edu	37	2	111850527	111850527	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:111850527C>T	ENST00000389811.4	+	18	1840	c.1616C>T	c.(1615-1617)aCg>aTg	p.T539M	ACOXL_ENST00000439055.1_Missense_Mutation_p.T509M			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	539					fatty acid beta-oxidation (GO:0006635)	peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGGCCAGCACGAGGATCAGG	0.483																																						uc002tgr.3																			0					0						c.(1615-1617)ACG>ATG		acyl-Coenzyme A oxidase-like 2							85.0	82.0	83.0					2																	111850527		2203	4300	6503	SO:0001583	missense	55289				fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity	g.chr2:111850527C>T		CCDS46389.1	2q13	2010-06-30	2010-04-30		ENSG00000153093	ENSG00000153093			25621	protein-coding gene	gene with protein product			"""acyl-Coenzyme A oxidase-like"""				Standard	NM_001142807		Approved	FLJ11042	uc010yxk.1	Q9NUZ1	OTTHUMG00000131257	ENST00000389811.4:c.1616C>T	2.37:g.111850527C>T	ENSP00000374461:p.Thr539Met					ACOXL_uc010fkc.2_Missense_Mutation_p.T509M|ACOXL_uc010yxk.1_Missense_Mutation_p.T509M	p.T539M	NM_001105516	NP_001098986	Q9NUZ1	ACOXL_HUMAN			18	1840	+			539					A2RRB7|B7WPB3|B7WPP7|E9PB20|Q53R27|Q53R31|Q53SC6|Q8TCE7	Missense_Mutation	SNP	ENST00000389811.4	37	c.1616C>T		.	.	.	.	.	.	.	.	.	.	C	7.282	0.609213	0.14066	.	.	ENSG00000153093	ENST00000389811;ENST00000439055;ENST00000422487;ENST00000417074	T;T;T	0.44482	0.92;0.92;0.92	5.97	-11.9	0.00025	Acyl-CoA oxidase, C-terminal (1);Acyl-CoA dehydrogenase/oxidase C-terminal (2);	1.647740	0.03067	N	0.156627	T	0.12008	0.0292	N	0.00926	-1.1	0.09310	N	1	B;B;B	0.11235	0.004;0.003;0.003	B;B;B	0.08055	0.002;0.001;0.003	T	0.41016	-0.9532	10	0.45353	T	0.12	2.0928	5.0691	0.14596	0.0863:0.3948:0.2654:0.2536	.	509;509;539	E9PB20;Q9NUZ1-2;Q9NUZ1	.;.;ACOXL_HUMAN	M	539;509;360;347	ENSP00000374461:T539M;ENSP00000407761:T509M;ENSP00000387832:T347M	ENSP00000374461:T539M	T	+	2	0	ACOXL	111566998	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.849000	0.01672	-3.470000	0.00157	-3.010000	0.00075	ACG		0.483	ACOXL-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000254024.2	NM_018308	
ABCA12	26154	broad.mit.edu	37	2	215855594	215855594	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:215855594C>T	ENST00000272895.7	-	24	3675	c.3456G>A	c.(3454-3456)tcG>tcA	p.S1152S	ABCA12_ENST00000389661.4_Silent_p.S834S	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1152					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)			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)		AGCTGTAGTCCGAAAAATACA	0.388																																					Ovarian(66;664 1488 5121 34295)	uc002vew.2																			0				ovary(6)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|skin(1)|pancreas(1)	11						c.(3454-3456)TCG>TCA		ATP-binding cassette, sub-family A, member 12							107.0	104.0	105.0					2																	215855594		2203	4300	6503	SO:0001819	synonymous_variant	26154				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	g.chr2:215855594C>T	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.3456G>A	2.37:g.215855594C>T						ABCA12_uc002vev.2_Silent_p.S834S|ABCA12_uc010zjn.1_Silent_p.S79S	p.S1152S	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)	24	3676	-		Renal(323;0.127)	1152			Helical; (Potential).		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	ENST00000272895.7	37	c.3456G>A	CCDS33372.1																																																																																				0.388	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
GLB1L	79411	broad.mit.edu	37	2	220108249	220108249	+	Missense_Mutation	SNP	A	A	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:220108249A>T	ENST00000295759.7	-	2	360	c.47T>A	c.(46-48)cTc>cAc	p.L16H	STK16_ENST00000396738.2_5'Flank|STK16_ENST00000409638.3_5'Flank|STK16_ENST00000409516.3_5'Flank|GLB1L_ENST00000392089.2_Missense_Mutation_p.L16H|STK16_ENST00000409260.1_5'Flank|GLB1L_ENST00000356283.3_Missense_Mutation_p.L16H|GLB1L_ENST00000409640.1_Missense_Mutation_p.L16H|STK16_ENST00000409743.1_5'Flank			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	16					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTCAGGCTGAGCGGCAGCAG	0.612																																						uc002vkm.2																			0					0						c.(46-48)CTC>CAC		galactosidase, beta 1-like precursor							75.0	66.0	69.0					2																	220108249		2203	4300	6503	SO:0001583	missense	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220108249A>T		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.47T>A	2.37:g.220108249A>T	ENSP00000295759:p.Leu16His					GLB1L_uc010zkx.1_Missense_Mutation_p.L16H|GLB1L_uc002vkn.2_Missense_Mutation_p.L16H|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.1_5'Flank|STK16_uc010fwf.2_5'Flank|STK16_uc002vkp.2_5'Flank|STK16_uc002vkr.2_5'Flank|STK16_uc002vkq.2_5'Flank	p.L16H	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	2	286	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	16					Q96DR0	Missense_Mutation	SNP	ENST00000295759.7	37	c.47T>A	CCDS2437.1	.	.	.	.	.	.	.	.	.	.	A	13.97	2.395842	0.42512	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283;ENST00000428427;ENST00000424620	D;D;D;D;D	0.97598	-4.45;-4.22;-4.45;-4.22;-3.5	4.97	3.77	0.43336	.	0.836260	0.10670	N	0.647627	D	0.95007	0.8384	N	0.08118	0	0.09310	N	1	D;D	0.63046	0.992;0.986	P;P	0.60473	0.875;0.754	D	0.88767	0.3261	10	0.42905	T	0.14	-1.3172	9.7948	0.40728	0.8268:0.1732:0.0:0.0	.	16;16	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	H	16	ENSP00000295759:L16H;ENSP00000386354:L16H;ENSP00000375939:L16H;ENSP00000348628:L16H;ENSP00000400738:L16H	ENSP00000295759:L16H	L	-	2	0	GLB1L	219816493	0.778000	0.28640	0.019000	0.16419	0.689000	0.40095	1.837000	0.39201	0.978000	0.38470	0.460000	0.39030	CTC		0.612	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506	
ACSL3	2181	broad.mit.edu	37	2	223781199	223781199	+	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:223781199A>G	ENST00000357430.3	+	5	1072	c.541A>G	c.(541-543)Atg>Gtg	p.M181V	ACSL3_ENST00000392066.3_Missense_Mutation_p.M181V|AC097461.4_ENST00000446709.1_RNA	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	181					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GGCGTGTTTTATGTATAATTT	0.383			T	ETV1	prostate																																	uc002vni.2				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				ovary(2)	2						c.(541-543)ATG>GTG		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)						135.0	131.0	132.0					2																	223781199		2203	4300	6503	SO:0001583	missense	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223781199A>G	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.541A>G	2.37:g.223781199A>G	ENSP00000350012:p.Met181Val					ACSL3_uc002vnj.2_Missense_Mutation_p.M181V	p.M181V	NM_004457	NP_004448	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	5	992	+		Renal(207;0.0183)	181			Cytoplasmic (Potential).		Q60I92|Q8IUM9	Missense_Mutation	SNP	ENST00000357430.3	37	c.541A>G	CCDS2455.1	.	.	.	.	.	.	.	.	.	.	A	15.35	2.808865	0.50421	.	.	ENSG00000123983	ENST00000357430;ENST00000392066;ENST00000540115	T;T;T	0.41065	1.01;1.01;1.01	5.07	5.07	0.68467	AMP-dependent synthetase/ligase (1);	0.080910	0.85682	D	0.000000	T	0.45418	0.1341	L	0.60455	1.87	0.58432	D	0.999997	B	0.29805	0.257	B	0.36030	0.216	T	0.43426	-0.9392	10	0.44086	T	0.13	-22.0277	15.1251	0.72475	1.0:0.0:0.0:0.0	.	181	O95573	ACSL3_HUMAN	V	181;181;29	ENSP00000350012:M181V;ENSP00000375918:M181V;ENSP00000441643:M29V	ENSP00000350012:M181V	M	+	1	0	ACSL3	223489443	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.106000	0.77039	2.031000	0.59945	0.533000	0.62120	ATG		0.383	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457	
UGT1A6	54578	broad.mit.edu	37	2	234681031	234681031	+	Silent	SNP	C	C	T	rs28900406	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:234681031C>T	ENST00000305139.6	+	5	1564	c.1425C>T	c.(1423-1425)ccC>ccT	p.P475P	UGT1A1_ENST00000608383.1_Silent_p.P476P|UGT1A7_ENST00000373426.3_Silent_p.P473P|UGT1A3_ENST00000482026.1_Silent_p.P477P|UGT1A1_ENST00000609637.1_Silent_p.P473P|UGT1A10_ENST00000344644.5_Silent_p.P473P|UGT1A6_ENST00000373424.1_Silent_p.P208P|UGT1A1_ENST00000609767.1_Silent_p.P477P|UGT1A8_ENST00000305208.5_Silent_p.P476P|UGT1A1_ENST00000373450.4_Silent_p.P473P|UGT1A4_ENST00000373409.3_Silent_p.P477P|UGT1A5_ENST00000373414.3_Silent_p.P477P|UGT1A1_ENST00000608381.1_Silent_p.P477P|UGT1A9_ENST00000354728.4_Silent_p.P473P	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	475					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	ACCTGCGCCCCGCAGCCCACG	0.602													C|||	16	0.00319489	0.0121	0.0	5008	,	,		16603	0.0		0.0	False		,,,				2504	0.0					uc002vuw.2																			0				skin(1)	1						c.(1429-1431)CCC>CCT		UDP glycosyltransferase 1 family, polypeptide A5		C	,,,,,,,,,	58,4348	56.2+/-92.4	1,56,2146	144.0	121.0	129.0		1428,1425,1431,1419,1419,1419,1431,1431,1419,624	-11.7	0.0	2	dbSNP_125	129	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	UGT1A10,UGT1A8,UGT1A7,UGT1A6,UGT1A5,UGT1A9,UGT1A4,UGT1A1,UGT1A3	NM_000463.2,NM_001072.3,NM_007120.2,NM_019075.2,NM_019076.4,NM_019077.2,NM_019078.1,NM_019093.2,NM_021027.2,NM_205862.1	,,,,,,,,,	1,56,6446	TT,TC,CC		0.0,1.3164,0.4459	,,,,,,,,,	476/534,475/533,477/535,473/531,473/531,473/531,477/535,477/535,473/531,208/266	234681031	58,12948	2203	4300	6503	SO:0001819	synonymous_variant	54579				xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr2:234681031C>T	M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.1425C>T	2.37:g.234681031C>T						UGT1A8_uc002vup.2_Silent_p.P473P|UGT1A10_uc002vur.2_Silent_p.P473P|UGT1A9_uc002vus.2_Silent_p.P473P|UGT1A7_uc002vut.2_Silent_p.P473P|UGT1A6_uc002vuu.2_Silent_p.P208P|UGT1A6_uc002vuv.3_Silent_p.P475P|UGT1A4_uc002vux.2_Silent_p.P477P|UGT1A3_uc002vuy.2_Silent_p.P477P|UGT1A9_uc002vva.2_RNA|UGT1A1_uc002vvb.2_Silent_p.P476P	p.P477P	NM_019078	NP_061951	P35504	UD15_HUMAN		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)	5	1431	+		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)	477					A6NKK6|B8K289|Q96TE7	Silent	SNP	ENST00000305139.6	37	c.1431C>T	CCDS2507.1																																																																																				0.602	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1	NM_205862	
KIF16B	55614	broad.mit.edu	37	20	16254013	16254013	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:16254013G>A	ENST00000354981.2	-	26	3996	c.3839C>T	c.(3838-3840)aCa>aTa	p.T1280I	KIF16B_ENST00000355755.3_Missense_Mutation_p.T1250I|KIF16B_ENST00000378003.2_Missense_Mutation_p.T465I	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1280	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAGGGGAGATGTTGCGGACTG	0.473																																						uc002wpg.1																			0				skin(2)|large_intestine(1)|central_nervous_system(1)|lung(1)|breast(1)|ovary(1)|kidney(1)	8						c.(3838-3840)ACA>ATA		kinesin-like motor protein C20orf23							122.0	114.0	117.0					20																	16254013		2203	4300	6503	SO:0001583	missense	55614				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	g.chr20:16254013G>A	AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.3839C>T	20.37:g.16254013G>A	ENSP00000347076:p.Thr1280Ile					KIF16B_uc002wpe.1_Missense_Mutation_p.T632I|KIF16B_uc002wpf.1_Missense_Mutation_p.T621I|KIF16B_uc010gch.1_Missense_Mutation_p.T1229I	p.T1280I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN			26	3997	-			1280			PX.		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	c.3839C>T	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	G	16.42	3.119470	0.56505	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000378003	T;T;T	0.70869	-0.49;-0.52;2.52	5.87	5.87	0.94306	Phox homologous domain (2);	.	.	.	.	T	0.71178	0.3309	L	0.43152	1.355	0.29595	N	0.848165	P;P	0.50819	0.925;0.939	B;P	0.46629	0.387;0.522	T	0.70292	-0.4912	9	0.52906	T	0.07	.	18.3987	0.90509	0.0:0.0:1.0:0.0	.	1239;1280	Q96L93-6;Q96L93	.;KI16B_HUMAN	I	1280;1250;1124;465	ENSP00000347076:T1280I;ENSP00000347995:T1250I;ENSP00000367242:T465I	ENSP00000347076:T1280I	T	-	2	0	KIF16B	16202013	0.998000	0.40836	0.747000	0.31113	0.711000	0.40976	4.784000	0.62411	2.785000	0.95823	0.655000	0.94253	ACA		0.473	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
SEC23B	10483	broad.mit.edu	37	20	18507120	18507120	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:18507120G>A	ENST00000336714.3	+	8	1370	c.938G>A	c.(937-939)cGt>cAt	p.R313H	SEC23B_ENST00000377475.3_Missense_Mutation_p.R313H|SEC23B_ENST00000262544.2_Missense_Mutation_p.R313H|SEC23B_ENST00000377465.1_Missense_Mutation_p.R313H	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	313			R -> H. {ECO:0000269|PubMed:19561605}.		ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATTCCTATTCGTTCTTGGCAT	0.458																																						uc002wqz.1																			0				ovary(1)	1						c.(937-939)CGT>CAT		Sec23 homolog B							120.0	106.0	111.0					20																	18507120		2203	4300	6503	SO:0001583	missense	10483				ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding	g.chr20:18507120G>A	X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.938G>A	20.37:g.18507120G>A	ENSP00000338844:p.Arg313His					SEC23B_uc002wra.1_Missense_Mutation_p.R313H|SEC23B_uc002wrb.1_Missense_Mutation_p.R313H|SEC23B_uc010zsb.1_Missense_Mutation_p.R295H|SEC23B_uc002wrc.1_Missense_Mutation_p.R313H	p.R313H	NM_006363	NP_006354	Q15437	SC23B_HUMAN			8	1381	+			313		R -> H.			D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	ENST00000336714.3	37	c.938G>A	CCDS13137.1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.950955	0.92660	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	D;D;D;D;D	0.82711	-1.64;-1.64;-1.64;-1.64;-1.64	5.13	4.19	0.49359	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.93180	0.7828	H	0.95260	3.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94585	0.7783	10	0.87932	D	0	-15.4382	12.7854	0.57502	0.0781:0.0:0.9219:0.0	.	295;313	B4DJW8;Q15437	.;SC23B_HUMAN	H	313	ENSP00000403971:R313H;ENSP00000338844:R313H;ENSP00000262544:R313H;ENSP00000366695:R313H;ENSP00000366685:R313H	ENSP00000262544:R313H	R	+	2	0	SEC23B	18455120	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.657000	0.98554	1.396000	0.46663	0.555000	0.69702	CGT		0.458	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078184.5		
FAM83D	81610	broad.mit.edu	37	20	37555323	37555325	+	In_Frame_Del	DEL	GCG	GCG	-	rs570408132	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:37555323_37555325delGCG	ENST00000217429.4	+	1	369_371	c.328_330delGCG	c.(328-330)gcgdel	p.A116del		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	86					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGGAGGGCgcggcggcggcgg	0.719														78	0.0155751	0.056	0.0029	5008	,	,		15546	0.0		0.0	False		,,,				2504	0.002					uc002xjg.2																			0				ovary(3)	3						c.(328-330)GCGdel		hypothetical protein LOC81610				14,115,1361		5,0,4,42,31,663						2.4	1.0			2	250,104,3726		71,1,107,26,51,1784	no	codingComplex	FAM83D	NM_030919.2		76,1,111,68,82,2447	A1A1,A1A2,A1R,A2A2,A2R,RR		8.6765,8.6577,8.6715				264,219,5087				SO:0001651	inframe_deletion	81610				cell division|mitosis	cytoplasm|spindle pole		g.chr20:37555323_37555325delGCG	AL023803	CCDS42872.1	20q11.23	2014-03-13	2006-03-23	2006-03-23	ENSG00000101447	ENSG00000101447			16122	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 129"""	C20orf129		23205133	Standard	NM_030919		Approved	dJ616B8.3	uc002xjg.3	Q9H4H8	OTTHUMG00000032462	ENST00000217429.4:c.328_330delGCG	20.37:g.37555332_37555334delGCG	ENSP00000217429:p.Ala116del					FAM83D_uc002xjf.2_In_Frame_Del_p.A116del	p.A116del	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN			1	369_371	+		Myeloproliferative disorder(115;0.00878)	86			Poly-Ala.		B4E1I7|Q5THR2|Q68EN1|Q6P457|Q7Z6H0|Q96DF5|Q96N89|Q9BVM8	In_Frame_Del	DEL	ENST00000217429.4	37	c.328_330delGCG	CCDS42872.1																																																																																				0.719	FAM83D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079211.1		
SLC12A5	57468	broad.mit.edu	37	20	44674611	44674611	+	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:44674611A>G	ENST00000454036.2	+	13	1782	c.1733A>G	c.(1732-1734)gAc>gGc	p.D578G	SLC12A5_ENST00000243964.3_Missense_Mutation_p.D555G	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	578					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCATCCCTCGACGAGGTGGCC	0.597																																						uc010zxl.1																			0				ovary(2)|large_intestine(1)|central_nervous_system(1)|skin(1)	5						c.(1732-1734)GAC>GGC		solute carrier family 12 (potassium-chloride	Bumetanide(DB00887)|Potassium Chloride(DB00761)						166.0	142.0	150.0					20																	44674611		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44674611A>G	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1733A>G	20.37:g.44674611A>G	ENSP00000387694:p.Asp578Gly					SLC12A5_uc010zxm.1_RNA|SLC12A5_uc002xrb.2_Missense_Mutation_p.D555G	p.D578G	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN			13	1809	+		Myeloproliferative disorder(115;0.0122)	578			Helical; (Potential).		A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1733A>G	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	A	15.92	2.974153	0.53720	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.98602	-5.02;-5.02	4.46	4.46	0.54185	Amino acid permease domain (1);	0.142500	0.45867	D	0.000333	D	0.98782	0.9590	H	0.95043	3.615	0.80722	D	1	B;B	0.29301	0.241;0.065	B;B	0.43018	0.405;0.101	D	0.99945	1.1459	10	0.72032	D	0.01	.	12.7173	0.57121	1.0:0.0:0.0:0.0	.	578;555	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	G	578;555	ENSP00000387694:D578G;ENSP00000243964:D555G	ENSP00000243964:D555G	D	+	2	0	SLC12A5	44108018	1.000000	0.71417	0.946000	0.38457	0.358000	0.29455	9.131000	0.94446	1.879000	0.54435	0.460000	0.39030	GAC		0.597	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1		
NFATC2	4773	broad.mit.edu	37	20	50159018	50159018	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:50159018C>T	ENST00000396009.3	-	1	240	c.21G>A	c.(19-21)caG>caA	p.Q7Q	NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000609943.1_Intron|NFATC2_ENST00000414705.1_Intron|NFATC2_ENST00000371564.3_Silent_p.Q7Q|NFATC2_ENST00000610033.1_5'UTR	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	7					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|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)		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGGTTGGGGCTGCCGCTCGG	0.721																																						uc002xwd.2																			0				ovary(2)	2						c.(19-21)CAG>CAA		nuclear factor of activated T-cells,							7.0	10.0	9.0					20																	50159018		2011	4047	6058	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50159018C>T	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.21G>A	20.37:g.50159018C>T						NFATC2_uc002xwc.2_Silent_p.Q7Q|NFATC2_uc010zyv.1_5'UTR|NFATC2_uc010zyw.1_5'UTR|NFATC2_uc010zyx.1_Intron|NFATC2_uc010zyy.1_Intron|NFATC2_uc010zyz.1_Intron|NFATC2_uc002xwe.2_Intron	p.Q7Q	NM_173091	NP_775114	Q13469	NFAC2_HUMAN			1	241	-	Hepatocellular(150;0.248)		7					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.21G>A	CCDS13437.1																																																																																				0.721	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340	
OPRL1	4987	broad.mit.edu	37	20	62729401	62729401	+	Silent	SNP	C	C	T	rs143380233		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:62729401C>T	ENST00000349451.3	+	5	892	c.480C>T	c.(478-480)gaC>gaT	p.D160D	OPRL1_ENST00000355631.4_Silent_p.D160D|OPRL1_ENST00000336866.2_Silent_p.D160D	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	160					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GTGCCCTCGACGTCCGCACGT	0.587																																						uc002yic.2																			0				central_nervous_system(1)|skin(1)	2						c.(478-480)GAC>GAT		opiate receptor-like 1		C	,,	0,4406		0,0,2203	148.0	127.0	134.0		480,480,480	-7.3	0.4	20	dbSNP_134	134	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	OPRL1	NM_000913.4,NM_001200019.1,NM_182647.2	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	160/371,160/371,160/371	62729401	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	4987				elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity	g.chr20:62729401C>T		CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.480C>T	20.37:g.62729401C>T						OPRL1_uc002yid.2_Silent_p.D160D|OPRL1_uc002yif.3_Silent_p.D155D	p.D160D	NM_182647	NP_872588	P41146	OPRX_HUMAN			4	882	+	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)		160			Cytoplasmic (Potential).		Q8TD34|Q8WYH9|Q9H4K4	Silent	SNP	ENST00000349451.3	37	c.480C>T	CCDS13556.1																																																																																				0.587	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080295.1	NM_182647	
ITSN1	6453	broad.mit.edu	37	21	35231057	35231057	+	Missense_Mutation	SNP	A	A	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:35231057A>C	ENST00000381318.3	+	31	4139	c.3851A>C	c.(3850-3852)aAc>aCc	p.N1284T	ITSN1_ENST00000399367.3_Missense_Mutation_p.N1279T|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000437442.2_Missense_Mutation_p.N1279T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000381285.4_Missense_Mutation_p.N1284T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1284	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATTTTTGTGAACTGGAAGGAG	0.453																																						uc002yta.1																			0				ovary(3)|skin(1)	4						c.(3850-3852)AAC>ACC		intersectin 1 isoform ITSN-l							126.0	134.0	131.0					21																	35231057		2203	4300	6503	SO:0001583	missense	6453				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	g.chr21:35231057A>C	AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.3851A>C	21.37:g.35231057A>C	ENSP00000370719:p.Asn1284Thr					DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.N1279T|ITSN1_uc002ytj.2_Missense_Mutation_p.N1279T|ITSN1_uc010gmm.1_RNA	p.N1284T	NM_003024	NP_003015	Q15811	ITSN1_HUMAN			31	4119	+			1284			DH.		A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	ENST00000381318.3	37	c.3851A>C	CCDS33545.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.9|23.9	4.475946|4.475946	0.84640|0.84640	.|.	.|.	ENSG00000205726|ENSG00000205726	ENST00000381284|ENST00000381318;ENST00000381285;ENST00000381288;ENST00000399367;ENST00000437442	.|T;T;T;T	.|0.39406	.|1.08;1.08;1.08;1.08	5.65|5.65	5.65|5.65	0.86999|0.86999	.|Dbl homology (DH) domain (5);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68137|0.68137	0.2968|0.2968	M|M	0.83483|0.83483	2.645|2.645	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;0.996;1.0	.|D;D;D	.|0.91635	.|0.999;0.925;0.997	T|T	0.73672|0.73672	-0.3909|-0.3909	5|10	.|0.87932	.|D	.|0	.|.	15.8758|15.8758	0.79159|0.79159	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|1279;1279;1284	.|A8CTY3;A8CTX8;Q15811	.|.;.;ITSN1_HUMAN	D|T	19|1284;1284;1213;1279;1279	.|ENSP00000370719:N1284T;ENSP00000370685:N1284T;ENSP00000382301:N1279T;ENSP00000387377:N1279T	.|ENSP00000370685:N1284T	E|N	+|+	3|2	2|0	ITSN1|ITSN1	34152927|34152927	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	8.922000|8.922000	0.92789|0.92789	2.151000|2.151000	0.67156|0.67156	0.460000|0.460000	0.39030|0.39030	GAA|AAC		0.453	ITSN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000140070.4	NM_003024	
IGSF5	150084	broad.mit.edu	37	21	41137664	41137664	+	Silent	SNP	C	C	T	rs145170006	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:41137664C>T	ENST00000380588.4	+	3	406	c.303C>T	c.(301-303)ggC>ggT	p.G101G	IGSF5_ENST00000479378.1_3'UTR	NM_001080444.1	NP_001073913.1	Q9NSI5	IGSF5_HUMAN	immunoglobulin superfamily, member 5	101	Ig-like V-type 1.				single organismal cell-cell adhesion (GO:0016337)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ACGACCAGGGCGGGAACTTCA	0.557													c|||	5	0.000998403	0.0	0.0	5008	,	,		19511	0.0		0.0	False		,,,				2504	0.0051					uc002yyo.2																			0					0						c.(301-303)GGC>GGT		immunoglobulin superfamily 5 like		T		0,4406		0,0,2203	116.0	86.0	96.0		303	-5.4	0.0	21	dbSNP_134	96	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	IGSF5	NM_001080444.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		101/408	41137664	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	150084					integral to membrane|tight junction		g.chr21:41137664C>T		CCDS33562.1	21q22.2	2013-01-29			ENSG00000183067	ENSG00000183067		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5952	protein-coding gene	gene with protein product	"""junctional adhesion molecule 4"""	610638					Standard	NM_001080444		Approved	JAM4	uc002yyo.3	Q9NSI5	OTTHUMG00000086724	ENST00000380588.4:c.303C>T	21.37:g.41137664C>T							p.G101G	NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN			3	406	+		Prostate(19;5.35e-06)	101			Ig-like V-type 1.|Extracellular (Potential).			Silent	SNP	ENST00000380588.4	37	c.303C>T	CCDS33562.1																																																																																				0.557	IGSF5-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195005.1		
ITGB2	3689	broad.mit.edu	37	21	46320382	46320382	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:46320382G>A	ENST00000397850.2	-	8	1202	c.750C>T	c.(748-750)atC>atT	p.I250I	ITGB2_ENST00000355153.4_Silent_p.I250I|ITGB2_ENST00000397852.1_Silent_p.I250I|ITGB2_ENST00000397854.3_Silent_p.I193I|ITGB2_ENST00000397857.1_Silent_p.I250I|ITGB2_ENST00000302347.5_Silent_p.I250I			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	250	VWFA.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGCGCCAGCCGATTTCCTCCT	0.647																																						uc002zgd.2																			0				ovary(4)|central_nervous_system(3)|breast(2)	9						c.(748-750)ATC>ATT		integrin, beta 2 precursor	Simvastatin(DB00641)						43.0	46.0	45.0					21																	46320382		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46320382G>A	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.750C>T	21.37:g.46320382G>A						ITGB2_uc002zge.2_Silent_p.I250I|ITGB2_uc002zgf.3_Silent_p.I250I|ITGB2_uc011afl.1_Silent_p.I172I|ITGB2_uc010gpw.2_Silent_p.I193I|ITGB2_uc002zgg.2_Silent_p.I250I	p.I250I	NM_001127491	NP_001120963	P05107	ITB2_HUMAN		Colorectal(79;0.0669)	6	794	-			250			Extracellular (Potential).|VWFA.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.750C>T	CCDS13716.1																																																																																				0.647	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211	
SEC14L3	266629	broad.mit.edu	37	22	30856050	30856050	+	Silent	SNP	G	G	A	rs116181219		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr22:30856050G>A	ENST00000215812.4	-	12	1251	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D	SEC14L3_ENST00000415957.2_Intron|SEC14L3_ENST00000539629.1_Silent_p.D328D|SEC14L3_ENST00000540910.1_Silent_p.D310D|SEC14L3_ENST00000402286.1_Silent_p.D310D|SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000401751.1_Silent_p.D328D	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	387						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GCATGCCCTCGTCAGGGAGCA	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		22591	0.0		0.001	False		,,,				2504	0.0				Esophageal Squamous(108;290 1516 3584 23771 37333)	uc003ahy.2																			0				ovary(3)|pancreas(1)|skin(1)	5						c.(1159-1161)GAC>GAT		SEC14-like 3	Vitamin E(DB00163)						107.0	83.0	91.0					22																	30856050		2203	4300	6503	SO:0001819	synonymous_variant	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30856050G>A	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.1161C>T	22.37:g.30856050G>A						SEC14L3_uc003ahz.2_Silent_p.D310D|SEC14L3_uc003aia.2_Silent_p.D328D|SEC14L3_uc003aib.2_Silent_p.D328D	p.D387D	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN			12	1250	-			387					E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Silent	SNP	ENST00000215812.4	37	c.1161C>T	CCDS13877.1																																																																																				0.502	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975	
PES1	23481	broad.mit.edu	37	22	30980618	30980618	+	Missense_Mutation	SNP	T	T	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr22:30980618T>C	ENST00000405677.1	-	7	981	c.38A>G	c.(37-39)aAg>aGg	p.K13R	PES1_ENST00000335214.6_Missense_Mutation_p.K152R|PES1_ENST00000354694.7_Missense_Mutation_p.K152R|PES1_ENST00000402284.3_Missense_Mutation_p.K152R|PES1_ENST00000402281.1_Missense_Mutation_p.K13R	NM_001282328.1	NP_001269257.1			pescadillo ribosomal biogenesis factor 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CACGTGGCACTTGCCAGTCCG	0.612																																						uc003aij.1																			0					0						c.(454-456)AAG>AGG		pescadillo homolog 1, containing BRCT domain							84.0	57.0	66.0					22																	30980618		2203	4300	6503	SO:0001583	missense	23481				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding	g.chr22:30980618T>C	U78310	CCDS13880.1, CCDS58802.1, CCDS74842.1	22q12.1	2012-02-23	2012-02-23		ENSG00000100029	ENSG00000100029			8848	protein-coding gene	gene with protein product		605819	"""pescadillo (zebrafish) homolog 1, containing BRCT domain"", ""pescadillo homolog 1, containing BRCT domain (zebrafish)"""			8985183, 10591208, 17353269	Standard	NM_014303		Approved	PES	uc003aij.2	O00541	OTTHUMG00000151077	ENST00000405677.1:c.38A>G	22.37:g.30980618T>C	ENSP00000385654:p.Lys13Arg					PES1_uc003aik.1_Missense_Mutation_p.K152R|PES1_uc003ail.1_Missense_Mutation_p.K152R|PES1_uc003aim.1_Missense_Mutation_p.K152R|PES1_uc003ain.1_Missense_Mutation_p.K13R|PES1_uc003aio.1_Missense_Mutation_p.K13R	p.K152R	NM_014303	NP_055118	O00541	PESC_HUMAN			5	529	-			152			Sufficient for nucleolar localization.			Missense_Mutation	SNP	ENST00000405677.1	37	c.455A>G		.	.	.	.	.	.	.	.	.	.	T	17.61	3.433544	0.62955	.	.	ENSG00000100029	ENST00000354694;ENST00000402281;ENST00000405677;ENST00000402284;ENST00000335214	T;T;T;T;T	0.48522	0.81;0.81;0.81;0.81;0.81	5.17	5.17	0.71159	.	0.115400	0.64402	D	0.000016	T	0.39835	0.1093	L	0.46947	1.48	0.80722	D	1	B;B;B;B	0.31026	0.304;0.057;0.135;0.304	B;B;B;B	0.27262	0.078;0.044;0.037;0.078	T	0.21484	-1.0244	10	0.18276	T	0.48	-20.4618	14.7028	0.69166	0.0:0.0:0.0:1.0	.	152;152;152;152	B2RDF2;B5MCF9;O00541-2;O00541	.;.;.;PESC_HUMAN	R	152;13;13;152;152	ENSP00000346725:K152R;ENSP00000384366:K13R;ENSP00000385654:K13R;ENSP00000384252:K152R;ENSP00000334612:K152R	ENSP00000334612:K152R	K	-	2	0	PES1	29310618	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	7.460000	0.80816	1.967000	0.57214	0.533000	0.62120	AAG		0.612	PES1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000321189.2	NM_014303	
CYP8B1	1582	broad.mit.edu	37	3	42916203	42916203	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:42916203G>A	ENST00000316161.4	-	1	1430	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.S369F	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	369					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CTGCCCACTGGACATCTTCAG	0.592																																						uc003cmh.2																			0				ovary(2)	2						c.(1105-1107)TCC>TTC		cytochrome P450, family 8, subfamily B,							80.0	78.0	79.0					3																	42916203		2203	4300	6503	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916203G>A	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.1106C>T	3.37:g.42916203G>A	ENSP00000318867:p.Ser369Phe					CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.S369F	p.S369F	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	1431	-			369					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.1106C>T	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398762	0.42512	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.74842	-0.36;-0.88	5.05	4.08	0.47627	.	0.230959	0.34580	N	0.003847	T	0.72771	0.3502	L	0.43152	1.355	0.28599	N	0.909241	P;P	0.48834	0.916;0.586	P;P	0.50314	0.637;0.516	T	0.69709	-0.5072	10	0.62326	D	0.03	-12.1515	11.2254	0.48880	0.0:0.1276:0.7278:0.1446	.	369;369	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	F	369	ENSP00000404499:S369F;ENSP00000318867:S369F	ENSP00000318867:S369F	S	-	2	0	CYP8B1	42891207	1.000000	0.71417	0.954000	0.39281	0.252000	0.25951	3.738000	0.55067	2.338000	0.79540	0.561000	0.74099	TCC		0.592	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391	
ACY1	95	broad.mit.edu	37	3	52020670	52020670	+	Silent	SNP	T	T	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:52020670T>C	ENST00000404366.2	+	8	722	c.576T>C	c.(574-576)agT>agC	p.S192S	ABHD14A-ACY1_ENST00000463937.1_Silent_p.S293S|ACY1_ENST00000476854.1_Silent_p.S192S|ACY1_ENST00000494103.1_Silent_p.S120S|ACY1_ENST00000476351.1_Silent_p.S157S|ACY1_ENST00000458031.2_Silent_p.S282S	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	192					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	GTGAGCGGAGTCCCTGGTGTA	0.567																																						uc003dcp.2																			0				breast(1)|skin(1)	2						c.(574-576)AGT>AGC		aminoacylase 1	L-Aspartic Acid(DB00128)						113.0	115.0	114.0					3																	52020670		2203	4300	6503	SO:0001819	synonymous_variant	95				cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity	g.chr3:52020670T>C	L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.576T>C	3.37:g.52020670T>C						ACY1_uc011bea.1_Silent_p.S282S|ACY1_uc011beb.1_Silent_p.S192S|ACY1_uc003dcq.2_Silent_p.S192S	p.S192S	NM_000666	NP_000657	Q03154	ACY1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	8	637	+			192					C9J6I6|C9J9D8|C9JWD4	Silent	SNP	ENST00000404366.2	37	c.576T>C	CCDS2844.1																																																																																				0.567	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349657.1	NM_000666	
PIK3CA	5290	broad.mit.edu	37	3	178916881	178916881	+	Missense_Mutation	SNP	T	T	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:178916881T>G	ENST00000263967.3	+	2	425	c.268T>G	c.(268-270)Tgt>Ggt	p.C90G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	90	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AAGACGACTTTGTGACCTTCG	0.373		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		0				breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(268-270)TGT>GGT		phosphoinositide-3-kinase, catalytic, alpha							106.0	101.0	103.0					3																	178916881		1820	4076	5896	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916881T>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.268T>G	3.37:g.178916881T>G	ENSP00000263967:p.Cys90Gly	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.C90G	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	425	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		90			PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.268T>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	19.85	3.903674	0.72754	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.75260	-0.92;-0.92	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.86171	0.5869	M	0.80422	2.495	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	D	0.87261	0.2279	9	.	.	.	-21.1026	15.4956	0.75646	0.0:0.0:0.0:1.0	.	90	P42336	PK3CA_HUMAN	G	90	ENSP00000263967:C90G;ENSP00000417479:C90G	.	C	+	1	0	PIK3CA	180399575	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.645000	0.83430	2.059000	0.61396	0.454000	0.30748	TGT		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
ABCC5	10057	broad.mit.edu	37	3	183679309	183679309	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:183679309G>A	ENST00000334444.6	-	16	2609	c.2369C>T	c.(2368-2370)cCg>cTg	p.P790L	ABCC5_ENST00000265586.6_Missense_Mutation_p.P790L	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	790					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cisplatin(DB00515)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Glutathione(DB00143)|Mercaptopurine(DB01033)|Probenecid(DB01032)|Rifampicin(DB01045)|Sildenafil(DB00203)|Sulfinpyrazone(DB01138)|Zidovudine(DB00495)	CTCAACTGGCGGTGTCTCTCC	0.478																																						uc003fmg.2																			0				ovary(2)|large_intestine(1)|central_nervous_system(1)	4						c.(2368-2370)CCG>CTG		ATP-binding cassette, sub-family C, member 5							70.0	75.0	74.0					3																	183679309		2110	4235	6345	SO:0001583	missense	10057					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	g.chr3:183679309G>A	AF104942	CCDS33898.1, CCDS43176.1	3q27	2012-03-14			ENSG00000114770	ENSG00000114770		"""ATP binding cassette transporters / subfamily C"""	56	protein-coding gene	gene with protein product		605251				8894702, 9827529	Standard	XM_005247058		Approved	MRP5, SMRP, EST277145, MOAT-C	uc003fmg.3	O15440	OTTHUMG00000156871	ENST00000334444.6:c.2369C>T	3.37:g.183679309G>A	ENSP00000333926:p.Pro790Leu					ABCC5_uc011bqt.1_Missense_Mutation_p.P318L|ABCC5_uc010hxl.2_Missense_Mutation_p.P790L	p.P790L	NM_005688	NP_005679	O15440	MRP5_HUMAN	Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)		16	2534	-	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		790					B9EIQ2|O14517|Q29ZA9|Q29ZB1|Q86UX3|Q86W30|Q9UN85|Q9UNP5|Q9UQC3	Missense_Mutation	SNP	ENST00000334444.6	37	c.2369C>T	CCDS43176.1	.	.	.	.	.	.	.	.	.	.	G	12.79	2.042433	0.35989	.	.	ENSG00000114770	ENST00000334444;ENST00000382495;ENST00000265586	D;D	0.91843	-2.71;-2.92	5.4	5.4	0.78164	ABC transporter, transmembrane domain, type 1 (1);	0.058962	0.64402	D	0.000002	D	0.91395	0.7285	M	0.66439	2.03	0.80722	D	1	B;B	0.21905	0.062;0.031	B;B	0.17722	0.019;0.008	D	0.88070	0.2800	10	0.41790	T	0.15	-22.5501	19.1617	0.93535	0.0:0.0:1.0:0.0	.	790;790	Q86UX3;O15440	.;MRP5_HUMAN	L	790;726;790	ENSP00000333926:P790L;ENSP00000265586:P790L	ENSP00000265586:P790L	P	-	2	0	ABCC5	185162003	1.000000	0.71417	0.890000	0.34922	0.071000	0.16799	7.607000	0.82883	2.531000	0.85337	0.591000	0.81541	CCG		0.478	ABCC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346350.1	NM_005688	
RAB28	9364	broad.mit.edu	37	4	13481054	13481054	+	Splice_Site	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr4:13481054C>A	ENST00000330852.5	-	2	386	c.172G>T	c.(172-174)Gga>Tga	p.G58*	RAB28_ENST00000288723.4_Splice_Site_p.G58*|RAB28_ENST00000338176.4_Splice_Site_p.G58*	NM_001017979.2	NP_001017979.1	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	58					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	ciliary basal body (GO:0036064)|ciliary rootlet (GO:0035253)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						AGTCTCTTACCTGGCAATGTT	0.328																																						uc003gmu.2																			0				ovary(1)|skin(1)	2						c.(172-174)GGA>TGA		RAB28, member RAS oncogene family isoform 1							62.0	62.0	62.0					4																	13481054		2202	4296	6498	SO:0001630	splice_region_variant	9364				small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	g.chr4:13481054C>A	X94703	CCDS3409.1, CCDS33961.1, CCDS54741.1	4p16.1	2014-04-24			ENSG00000157869	ENSG00000157869		"""RAB, member RAS oncogene"""	9768	protein-coding gene	gene with protein product		612994				8647132	Standard	NM_004249		Approved		uc003gmu.2	P51157	OTTHUMG00000090543	ENST00000330852.5:c.172+1G>T	4.37:g.13481054C>A						RAB28_uc003gmt.2_Nonsense_Mutation_p.G58*|RAB28_uc011bwz.1_Nonsense_Mutation_p.G58*|RAB28_uc003gmv.2_RNA	p.G58*	NM_001017979	NP_001017979	P51157	RAB28_HUMAN			2	387	-			58					G8JLC5|Q8IYR8|Q8NI05	Nonsense_Mutation	SNP	ENST00000330852.5	37	c.172G>T	CCDS33961.1	.	.	.	.	.	.	.	.	.	.	C	39	7.698624	0.98441	.	.	ENSG00000157869	ENST00000330852;ENST00000288723;ENST00000338176	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.677	0.91532	0.0:1.0:0.0:0.0	.	.	.	.	X	58	.	.	G	-	1	0	RAB28	13090152	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	7.270000	0.78493	2.652000	0.90054	0.591000	0.81541	GGA		0.328	RAB28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207068.2	NM_001017979	Nonsense_Mutation
GABRA4	2557	broad.mit.edu	37	4	46966998	46966998	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr4:46966998C>A	ENST00000264318.3	-	8	2105	c.1123G>T	c.(1123-1125)Gcc>Tcc	p.A375S		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	375					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGCAGAGGGGCTTCAGGATGC	0.408																																					Ovarian(6;283 369 8234 12290 33402)	uc003gxg.2																			0				ovary(2)|upper_aerodigestive_tract(1)|breast(1)	4						c.(1123-1125)GCC>TCC		gamma-aminobutyric acid A receptor, alpha 4	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						77.0	84.0	82.0					4																	46966998		2202	4299	6501	SO:0001583	missense	2557				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr4:46966998C>A		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1123G>T	4.37:g.46966998C>A	ENSP00000264318:p.Ala375Ser						p.A375S	NM_000809	NP_000800	P48169	GBRA4_HUMAN			8	1262	-			375			Cytoplasmic (Probable).		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	c.1123G>T	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	0.950	-0.706620	0.03230	.	.	ENSG00000109158	ENST00000264318	D	0.85171	-1.95	4.81	1.6	0.23607	Neurotransmitter-gated ion-channel transmembrane domain (2);	7739.210000	0.00166	N	0.000000	T	0.71358	0.3330	N	0.14661	0.345	0.19775	N	0.999957	B	0.10296	0.003	B	0.14023	0.01	T	0.58640	-0.7601	10	0.09338	T	0.73	.	3.765	0.08619	0.1632:0.5136:0.0:0.3231	.	375	P48169	GBRA4_HUMAN	S	375	ENSP00000264318:A375S	ENSP00000264318:A375S	A	-	1	0	GABRA4	46661755	0.061000	0.20836	0.307000	0.25127	0.064000	0.16182	0.423000	0.21313	0.083000	0.17047	0.591000	0.81541	GCC		0.408	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1		
CDH12	1010	broad.mit.edu	37	5	21817224	21817224	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:21817224C>A	ENST00000382254.1	-	9	1918	c.832G>T	c.(832-834)Gtt>Ttt	p.V278F	CDH12_ENST00000522262.1_Missense_Mutation_p.V238F|CDH12_ENST00000504376.2_Missense_Mutation_p.V278F|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	278	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GACTCAGGAACTTTCAAGTGG	0.363										HNSCC(59;0.17)																												uc010iuc.2																			0				ovary(2)	2						c.(832-834)GTT>TTT		cadherin 12, type 2 preproprotein							54.0	54.0	54.0					5																	21817224		2203	4300	6503	SO:0001583	missense	1010				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:21817224C>A	L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.832G>T	5.37:g.21817224C>A	ENSP00000371689:p.Val278Phe	HNSCC(59;0.17)				CDH12_uc011cno.1_Missense_Mutation_p.V238F|CDH12_uc003jgk.2_Missense_Mutation_p.V278F	p.V278F	NM_004061	NP_004052	P55289	CAD12_HUMAN			6	1290	-			278			Extracellular (Potential).|Cadherin 3.		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	ENST00000382254.1	37	c.832G>T	CCDS3890.1	.	.	.	.	.	.	.	.	.	.	C	19.80	3.895628	0.72639	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.57436	0.4;0.4;0.4	4.97	4.97	0.65823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.79913	0.4528	M	0.92367	3.3	0.53688	D	0.99997	D;D	0.89917	0.985;1.0	D;D	0.91635	0.962;0.999	D	0.85435	0.1151	10	0.87932	D	0	.	18.5819	0.91174	0.0:1.0:0.0:0.0	.	238;278	B7Z2U6;P55289	.;CAD12_HUMAN	F	278;278;238	ENSP00000423577:V278F;ENSP00000371689:V278F;ENSP00000428786:V238F	ENSP00000371689:V278F	V	-	1	0	CDH12	21852981	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.651000	0.67951	2.435000	0.82474	0.585000	0.79938	GTT		0.363	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207139.1	NM_004061	
MROH2B	133558	broad.mit.edu	37	5	41049447	41049447	+	Missense_Mutation	SNP	A	A	T	rs565442512		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:41049447A>T	ENST00000399564.4	-	14	1886	c.1436T>A	c.(1435-1437)aTg>aAg	p.M479K	MROH2B_ENST00000506092.2_Missense_Mutation_p.M34K	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	479																	CTCCTCTGCCATAATCAGAAT	0.463																																						uc003jmj.3																			0				ovary(6)|central_nervous_system(2)	8						c.(1435-1437)ATG>AAG		HEAT repeat family member 7B2							80.0	76.0	78.0					5																	41049447		1940	4147	6087	SO:0001583	missense	133558						binding	g.chr5:41049447A>T		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.1436T>A	5.37:g.41049447A>T	ENSP00000382476:p.Met479Lys					HEATR7B2_uc003jmi.3_Missense_Mutation_p.M34K	p.M479K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN			14	1926	-			479					Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.1436T>A	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	A	15.08	2.728393	0.48833	.	.	ENSG00000171495	ENST00000506092;ENST00000296803;ENST00000399564	T;T	0.06849	3.25;3.25	5.7	4.56	0.56223	Armadillo-type fold (1);	0.000000	0.56097	D	0.000038	T	0.08358	0.0208	L	0.54323	1.7	0.34300	D	0.684229	P	0.37015	0.578	B	0.35510	0.204	T	0.15896	-1.0421	10	0.30078	T	0.28	.	7.6266	0.28216	0.9079:0.0:0.0921:0.0	.	479	Q7Z745	HTRB2_HUMAN	K	34;183;479	ENSP00000441504:M34K;ENSP00000382476:M479K	ENSP00000296803:M183K	M	-	2	0	HEATR7B2	41085204	1.000000	0.71417	0.997000	0.53966	0.808000	0.45660	1.957000	0.40392	2.185000	0.69588	0.528000	0.53228	ATG		0.463	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489	
MAP1B	4131	broad.mit.edu	37	5	71494424	71494424	+	Missense_Mutation	SNP	G	G	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:71494424G>T	ENST00000296755.7	+	5	5540	c.5242G>T	c.(5242-5244)Gat>Tat	p.D1748Y		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1748					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTCCAAGAAGATACTCTATC	0.478																																					Melanoma(17;367 822 11631 31730 47712)	uc003kbw.3																			0				large_intestine(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5						c.(5242-5244)GAT>TAT		microtubule-associated protein 1B							135.0	143.0	141.0					5																	71494424		2203	4300	6503	SO:0001583	missense	4131					microtubule|microtubule associated complex	structural molecule activity	g.chr5:71494424G>T	L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.5242G>T	5.37:g.71494424G>T	ENSP00000296755:p.Asp1748Tyr					MAP1B_uc010iyw.1_Missense_Mutation_p.D1765Y|MAP1B_uc010iyx.1_Missense_Mutation_p.D1622Y|MAP1B_uc010iyy.1_Missense_Mutation_p.D1622Y	p.D1748Y	NM_005909	NP_005900	P46821	MAP1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)	5	5483	+		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)	1748					A2BDK5	Missense_Mutation	SNP	ENST00000296755.7	37	c.5242G>T	CCDS4012.1	.	.	.	.	.	.	.	.	.	.	G	15.56	2.869421	0.51588	.	.	ENSG00000131711	ENST00000296755	T	0.04049	3.72	5.22	5.22	0.72569	.	0.277119	0.30879	N	0.008682	T	0.08537	0.0212	N	0.14661	0.345	0.58432	D	0.999999	D;D	0.57257	0.979;0.979	P;P	0.54401	0.751;0.751	T	0.31916	-0.9926	10	0.87932	D	0	-13.6132	19.1387	0.93439	0.0:0.0:1.0:0.0	.	1622;1748	A2BDK6;P46821	.;MAP1B_HUMAN	Y	1748	ENSP00000296755:D1748Y	ENSP00000296755:D1748Y	D	+	1	0	MAP1B	71530180	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.967000	0.70403	2.608000	0.88229	0.448000	0.29417	GAT		0.478	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218561.6	NM_005909	
LHFPL2	10184	broad.mit.edu	37	5	77784735	77784735	+	Silent	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:77784735C>G	ENST00000515007.2	-	3	982	c.672G>C	c.(670-672)ctG>ctC	p.L224L	LHFPL2_ENST00000380345.2_Silent_p.L224L			Q6ZUX7	LHPL2_HUMAN	lipoma HMGIC fusion partner-like 2	224						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGAGGCAGATCAGATTTTTCC	0.418																																						uc003kfo.2																			0					0						c.(670-672)CTG>CTC		lipoma HMGIC fusion partner-like 2							136.0	135.0	136.0					5																	77784735		2203	4300	6503	SO:0001819	synonymous_variant	10184					integral to membrane		g.chr5:77784735C>G	D86961	CCDS4042.1	5q13	2008-02-05			ENSG00000145685	ENSG00000145685			6588	protein-coding gene	gene with protein product		609718				10329012	Standard	NM_005779		Approved	KIAA0206	uc003kfo.3	Q6ZUX7	OTTHUMG00000107579	ENST00000515007.2:c.672G>C	5.37:g.77784735C>G							p.L224L	NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)	5	1348	-		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)	224					B2RMQ6|Q7Z5P0|Q92605	Silent	SNP	ENST00000515007.2	37	c.672G>C	CCDS4042.1																																																																																				0.418	LHFPL2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369098.2	NM_005779	
PKD2L2	27039	broad.mit.edu	37	5	137257377	137257377	+	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:137257377C>G	ENST00000508883.1	+	9	1407	c.1381C>G	c.(1381-1383)Caa>Gaa	p.Q461E	PKD2L2_ENST00000290431.5_Missense_Mutation_p.Q461E|PKD2L2_ENST00000508638.1_Intron|PKD2L2_ENST00000350250.4_Missense_Mutation_p.Q427E|PKD2L2_ENST00000502810.1_Missense_Mutation_p.Q439E			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	461					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGTATTCAGCAAGCCAATCC	0.308																																						uc003lby.2																			0					0						c.(1381-1383)CAA>GAA		polycystic kidney disease 2-like 2							168.0	153.0	158.0					5																	137257377		1805	4072	5877	SO:0001583	missense	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137257377C>G	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.1381C>G	5.37:g.137257377C>G	ENSP00000424725:p.Gln461Glu					PKD2L2_uc003lbw.1_Missense_Mutation_p.Q461E|PKD2L2_uc003lbx.2_Intron|PKD2L2_uc011cyi.1_Missense_Mutation_p.Q69E	p.Q461E	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		9	1437	+			461			Extracellular (Potential).		A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Missense_Mutation	SNP	ENST00000508883.1	37	c.1381C>G		.	.	.	.	.	.	.	.	.	.	C	3.105	-0.183974	0.06340	.	.	ENSG00000078795	ENST00000350250;ENST00000502810;ENST00000508883;ENST00000290431	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	5.89	4.95	0.65309	Polycystin cation channel, PKD1/PKD2 (1);	0.103076	0.43416	D	0.000570	T	0.45498	0.1345	N	0.13272	0.32	0.29229	N	0.873384	B;B	0.22003	0.004;0.063	B;B	0.21151	0.017;0.033	T	0.17379	-1.0371	10	0.02654	T	1	-6.08	15.0063	0.71516	0.212:0.788:0.0:0.0	.	461;461	Q9NZM6;Q9NZM6-5	PK2L2_HUMAN;.	E	427;439;461;461	ENSP00000344177:Q427E;ENSP00000425513:Q439E;ENSP00000424725:Q461E;ENSP00000290431:Q461E	ENSP00000290431:Q461E	Q	+	1	0	PKD2L2	137285276	0.991000	0.36638	1.000000	0.80357	0.995000	0.86356	0.436000	0.21526	2.797000	0.96272	0.563000	0.77884	CAA		0.308	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386	
PCDHB18	54660	broad.mit.edu	37	5	140615968	140615968	+	RNA	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:140615968G>A	ENST00000526308.1	+	0	2031					NR_001281.1		Q96TA0	PCDBI_HUMAN	protocadherin beta 18 pseudogene						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|lung(7)|ovary(1)|urinary_tract(1)	18						AGCCCGGGCTGTTCGGCGTGT	0.697																																						uc003ljc.1																			0				ovary(1)	1						c.(1681-1683)CTG>CTA		SubName: Full=Similar to protocadherin-3 (Pcdh3);																																						54660							g.chr5:140615968G>A	AF152528		5q31.3	2014-03-20			ENSG00000146001	ENSG00000146001		"""Cadherins / Protocadherins : Clustered"""	14548	pseudogene	pseudogene						10380929	Standard	NR_001281		Approved	PCDH-psi2	uc003ljc.1	Q96TA0	OTTHUMG00000167484		5.37:g.140615968G>A							p.L561L	NR_001281						1	2031	+								B3KTF8	Silent	SNP	ENST00000526308.1	37	c.1683G>A																																																																																					0.697	PCDHB18-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000394776.1		
TENM2	57451	broad.mit.edu	37	5	167551889	167551889	+	Silent	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:167551889A>G	ENST00000518659.1	+	11	2082	c.2043A>G	c.(2041-2043)ggA>ggG	p.G681G	TENM2_ENST00000519204.1_Silent_p.G560G|TENM2_ENST00000403607.2_Silent_p.G514G|TENM2_ENST00000545108.1_Silent_p.G681G|TENM2_ENST00000520394.1_Silent_p.G449G|CTB-178M22.1_ENST00000517408.1_RNA	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	681	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CCAGCCACGGAGTCTGTGTGA	0.512																																						uc010jjd.2																			0				ovary(6)|central_nervous_system(4)	10						c.(2041-2043)GGA>GGG		odz, odd Oz/ten-m homolog 2							43.0	45.0	44.0					5																	167551889		2134	4242	6376	SO:0001819	synonymous_variant	57451							g.chr5:167551889A>G	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.2043A>G	5.37:g.167551889A>G						ODZ2_uc003lzr.3_Silent_p.G449G|ODZ2_uc003lzt.3_Silent_p.G45G|ODZ2_uc010jje.2_5'UTR|uc003lzs.1_Intron	p.G681G	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	11	2043	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Silent	SNP	ENST00000518659.1	37	c.2043A>G																																																																																					0.512	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679	
TRIM10	10107	broad.mit.edu	37	6	30126364	30126364	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:30126364C>T	ENST00000449742.2	-	3	643	c.568G>A	c.(568-570)Gca>Aca	p.A190T	TRIM10_ENST00000376704.3_Missense_Mutation_p.A190T	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	190					erythrocyte differentiation (GO:0030218)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.A190T(1)		ovary(1)	1						CTCAGGTGTGCGAACTCAGAA	0.512																																						uc003npo.3																			1	Substitution - Missense(1)		prostate(1)		0						c.(568-570)GCA>ACA		tripartite motif-containing 10 isoform 1							262.0	283.0	276.0					6																	30126364		1511	2709	4220	SO:0001583	missense	10107					cytoplasm	zinc ion binding	g.chr6:30126364C>T	Y07829	CCDS4676.1, CCDS34375.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000204613	ENSG00000204613		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	10072	protein-coding gene	gene with protein product		605701	"""tripartite motif-containing 10"""	RNF9		9271628, 10207104	Standard	NM_052828		Approved	RFB30, HERF1	uc003npo.3	Q9UDY6	OTTHUMG00000031295	ENST00000449742.2:c.568G>A	6.37:g.30126364C>T	ENSP00000397073:p.Ala190Thr					TRIM10_uc003npn.2_Missense_Mutation_p.A190T	p.A190T	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN			3	644	-			190					A6NF84|Q5SRJ5|Q5SRK8|Q86Z08|Q96QB6|Q9C023|Q9C024	Missense_Mutation	SNP	ENST00000449742.2	37	c.568G>A	CCDS34375.1	.	.	.	.	.	.	.	.	.	.	C	6.673	0.492709	0.12702	.	.	ENSG00000204613	ENST00000449742;ENST00000376704;ENST00000376706	T;T	0.04758	3.56;3.56	5.68	0.586	0.17434	.	0.376195	0.22913	N	0.054107	T	0.01835	0.0058	M	0.71581	2.175	0.18873	N	0.999986	B;B	0.28971	0.147;0.229	B;B	0.28709	0.035;0.093	T	0.40701	-0.9549	10	0.49607	T	0.09	.	2.9036	0.05713	0.2355:0.5001:0.121:0.1434	.	190;190	Q9UDY6;Q9UDY6-2	TRI10_HUMAN;.	T	190	ENSP00000397073:A190T;ENSP00000365894:A190T	ENSP00000365894:A190T	A	-	1	0	TRIM10	30234343	0.001000	0.12720	0.124000	0.21820	0.005000	0.04900	-0.436000	0.06922	0.072000	0.16694	-2.526000	0.00183	GCA		0.512	TRIM10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076634.1		
HLA-DOB	3112	broad.mit.edu	37	6	32782142	32782142	+	Missense_Mutation	SNP	G	G	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:32782142G>C	ENST00000438763.2	-	3	694	c.598C>G	c.(598-600)Ctt>Gtt	p.L200V	TAP2_ENST00000452392.2_Missense_Mutation_p.L807V	NM_002120.3	NP_002111.1	P13765	DOB_HUMAN	major histocompatibility complex, class II, DO beta	200	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|immune response (GO:0006955)|negative regulation of antigen processing and presentation of peptide antigen via MHC class II (GO:0002587)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|MHC class II protein complex (GO:0042613)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	9						TGATCGACAAGGCAGGTGTAG	0.502																																						uc011dqf.1																			0					0						c.(2419-2421)CTT>GTT		transporter 2, ATP-binding cassette, sub-family							176.0	152.0	161.0					6																	32782142		1511	2709	4220	SO:0001583	missense	6891				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding	g.chr6:32782142G>C		CCDS4754.1	6p21.3	2013-01-11			ENSG00000241106	ENSG00000241106		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4937	protein-coding gene	gene with protein product		600629					Standard	NM_002120		Approved			P13765	OTTHUMG00000031213	ENST00000438763.2:c.598C>G	6.37:g.32782142G>C	ENSP00000390020:p.Leu200Val					HLA-DOB_uc003oca.2_Missense_Mutation_p.L200V|HLA-DOB_uc011dqg.1_Missense_Mutation_p.L200V	p.L807V	NM_018833	NP_061313	Q03519	TAP2_HUMAN			14	2541	-			Error:Variant_position_missing_in_Q03519_after_alignment					B0V0Y0|Q29746|Q29825|Q6FHC2	Missense_Mutation	SNP	ENST00000438763.2	37	c.2419C>G	CCDS4754.1	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086138	0.55861	.	.	ENSG00000241106;ENSG00000250264	ENST00000438763;ENST00000452392	T;T	0.02709	4.19;4.19	3.96	3.96	0.45880	Immunoglobulin/major histocompatibility complex, conserved site (1);Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.678460	0.14915	N	0.290989	T	0.01905	0.0060	N	0.17082	0.46	0.38930	D	0.957919	P;P;P	0.47191	0.801;0.872;0.891	P;P;B	0.47744	0.516;0.556;0.315	T	0.63229	-0.6684	10	0.87932	D	0	.	14.3592	0.66757	0.0:0.0:1.0:0.0	.	200;807;200	B7Z742;E7ENX8;P13765	.;.;DOB_HUMAN	V	200;807	ENSP00000390020:L200V;ENSP00000391806:L807V	ENSP00000390020:L200V	L	-	1	0	XXbac-BPG246D15.9;HLA-DOB	32890120	1.000000	0.71417	0.956000	0.39512	0.931000	0.56810	3.725000	0.54970	2.494000	0.84150	0.643000	0.83706	CTT		0.502	HLA-DOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076439.1	NM_002120	
DNAH8	1769	broad.mit.edu	37	6	38840400	38840400	+	Missense_Mutation	SNP	A	A	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:38840400A>G	ENST00000359357.3	+	48	6682	c.6428A>G	c.(6427-6429)aAg>aGg	p.K2143R	DNAH8_ENST00000449981.2_Missense_Mutation_p.K2360R|DNAH8_ENST00000441566.1_Missense_Mutation_p.K2107R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	2143	AAA 2. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(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						ATTCTAATGAAGGCGCAAACA	0.453																																						uc003ooe.1																			0				skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1)	21						c.(6427-6429)AAG>AGG		dynein, axonemal, heavy polypeptide 8							114.0	108.0	110.0					6																	38840400		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38840400A>G	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.6428A>G	6.37:g.38840400A>G	ENSP00000352312:p.Lys2143Arg						p.K2143R	NM_001371	NP_001362					48	7028	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.6428A>G		.	.	.	.	.	.	.	.	.	.	A	5.629	0.300666	0.10678	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.54279	0.58;0.58;0.58	5.62	4.45	0.53987	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.107337	0.64402	D	0.000008	T	0.20820	0.0501	L	0.28504	0.86	0.43531	D	0.99581	B	0.21381	0.055	B	0.32928	0.155	T	0.15578	-1.0432	10	0.17832	T	0.49	.	4.3619	0.11206	0.6836:0.0:0.1594:0.1569	.	2143	Q96JB1	DYH8_HUMAN	R	2348;2348;2143;2107	ENSP00000333363:K2348R;ENSP00000352312:K2143R;ENSP00000402294:K2107R	ENSP00000333363:K2348R	K	+	2	0	DNAH8	38948378	1.000000	0.71417	0.996000	0.52242	0.017000	0.09413	1.077000	0.30741	2.255000	0.74692	0.533000	0.62120	AAG		0.453	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927	
KCNK5	8645	broad.mit.edu	37	6	39159464	39159464	+	Silent	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:39159464C>A	ENST00000359534.3	-	5	1040	c.702G>T	c.(700-702)ggG>ggT	p.G234G		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	234					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCCAGGCCAGCCCCAAGTAGA	0.577																																						uc003oon.2																			0				central_nervous_system(1)|skin(1)	2						c.(700-702)GGG>GGT		potassium channel, subfamily K, member 5							83.0	94.0	90.0					6																	39159464		2203	4300	6503	SO:0001819	synonymous_variant	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39159464C>A	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.702G>T	6.37:g.39159464C>A							p.G234G	NM_003740	NP_003731	O95279	KCNK5_HUMAN			5	1066	-			234			Helical; (Potential).		B2RAQ6|B5TJL2|Q5VV76	Silent	SNP	ENST00000359534.3	37	c.702G>T	CCDS4841.1																																																																																				0.577	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740	
LRFN2	57497	broad.mit.edu	37	6	40360425	40360425	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:40360425C>T	ENST00000338305.6	-	3	2169	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	543						cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCGTGGCCACGATGATGCCC	0.607																																						uc003oph.1																			0				ovary(2)|skin(1)	3						c.(1627-1629)GTG>ATG		leucine rich repeat and fibronectin type III							86.0	64.0	71.0					6																	40360425		2203	4300	6503	SO:0001583	missense	57497					cell junction|integral to membrane|postsynaptic membrane		g.chr6:40360425C>T	AB033072	CCDS34443.1	6p21.2-p21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000156564	ENSG00000156564		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	21226	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 2"""	612808	"""KIAA1246"""	KIAA1246, SALM1		16495444, 16828986	Standard	NM_020737		Approved	FIGLER2	uc003oph.1	Q9ULH4	OTTHUMG00000014662	ENST00000338305.6:c.1627G>A	6.37:g.40360425C>T	ENSP00000345985:p.Val543Met						p.V543M	NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN			3	2092	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		543			Helical; (Potential).		A5PKU3|Q5SYP9	Missense_Mutation	SNP	ENST00000338305.6	37	c.1627G>A	CCDS34443.1	.	.	.	.	.	.	.	.	.	.	c	23.8	4.454934	0.84209	.	.	ENSG00000156564	ENST00000338305	T	0.69040	-0.37	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.82102	0.4964	M	0.86740	2.835	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84390	0.0554	10	0.59425	D	0.04	.	17.7543	0.88445	0.0:1.0:0.0:0.0	.	543	Q9ULH4	LRFN2_HUMAN	M	543	ENSP00000345985:V543M	ENSP00000345985:V543M	V	-	1	0	LRFN2	40468403	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.774000	0.85478	2.527000	0.85204	0.651000	0.88453	GTG		0.607	LRFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040488.1	XM_166372	
TREML1	340205	broad.mit.edu	37	6	41121571	41121571	+	Missense_Mutation	SNP	C	C	T	rs370662718		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:41121571C>T	ENST00000426005.2	-	2	344	c.301G>A	c.(301-303)Gag>Aag	p.E101K	TREML1_ENST00000437044.2_Intron|TREML1_ENST00000373127.4_Missense_Mutation_p.E101K	NM_178174.2	NP_835468.1	Q86YW5	TRML1_HUMAN	triggering receptor expressed on myeloid cells-like 1	101	Ig-like V-type.				calcium-mediated signaling (GO:0019722)|innate immune response (GO:0045087)|platelet activation (GO:0030168)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCCATACTCGCCAGCATCC	0.602																																						uc011duc.1																			0				breast(1)	1						c.(301-303)GAG>AAG		triggering receptor expressed on myeloid		C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	48.0	55.0	53.0		301	4.2	0.9	6		53	0,8600		0,0,4300	no	missense	TREML1	NM_178174.2	56	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	101/312	41121571	1,13005	2203	4300	6503	SO:0001583	missense	340205				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity	g.chr6:41121571C>T	AF534822	CCDS4851.1, CCDS64420.1, CCDS64421.1	6p21.1	2013-01-11			ENSG00000161911	ENSG00000161911		"""Immunoglobulin superfamily / V-set domain containing"""	20434	protein-coding gene	gene with protein product	"""TREM-like transcript 1"""	609714				12393607, 12645956	Standard	NM_178174		Approved	TLT1, dJ238O23.3	uc011duc.3	Q86YW5	OTTHUMG00000016231	ENST00000426005.2:c.301G>A	6.37:g.41121571C>T	ENSP00000402855:p.Glu101Lys					TREML1_uc003opx.2_Missense_Mutation_p.E101K|TREML1_uc011dud.1_Intron	p.E101K	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN			2	345	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		101			Ig-like V-type.|Extracellular (Potential).		Q496B3|Q8IWY1|Q8IWY2	Missense_Mutation	SNP	ENST00000426005.2	37	c.301G>A	CCDS4851.1	.	.	.	.	.	.	.	.	.	.	C	15.53	2.859420	0.51376	2.27E-4	0.0	ENSG00000161911	ENST00000373127;ENST00000426005	T;T	0.65364	-0.15;-0.15	5.97	4.17	0.49024	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	0.317710	0.27411	N	0.019489	T	0.28665	0.0710	L	0.47716	1.5	0.80722	D	1	D;P	0.60575	0.988;0.931	B;B	0.42343	0.384;0.245	T	0.49163	-0.8968	10	0.02654	T	1	.	8.7109	0.34382	0.0:0.7684:0.1507:0.0808	.	101;101	Q86YW5;Q86YW5-2	TRML1_HUMAN;.	K	101	ENSP00000362219:E101K;ENSP00000402855:E101K	ENSP00000362219:E101K	E	-	1	0	TREML1	41229549	0.135000	0.22499	0.917000	0.36280	0.916000	0.54674	0.286000	0.18902	0.826000	0.34661	0.655000	0.94253	GAG		0.602	TREML1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043538.2	NM_178174	
TDRD6	221400	broad.mit.edu	37	6	46658201	46658201	+	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:46658201C>G	ENST00000316081.6	+	1	2336	c.2336C>G	c.(2335-2337)tCt>tGt	p.S779C	RP11-446F17.3_ENST00000422284.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.S779C|RP11-446F17.3_ENST00000434329.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	779					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTCAGAGTGTCTTATGTTGAA	0.388																																						uc003oyj.2																			0				breast(3)|ovary(2)|skin(1)	6						c.(2335-2337)TCT>TGT		tudor domain containing 6							62.0	63.0	62.0					6																	46658201		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658201C>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2336C>G	6.37:g.46658201C>G	ENSP00000346065:p.Ser779Cys					TDRD6_uc010jze.2_Missense_Mutation_p.S773C	p.S779C	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	2336	+			779					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.2336C>G	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703644	0.68501	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.11930	2.73;2.73	5.85	5.85	0.93711	Maternal tudor protein (1);	0.049426	0.85682	D	0.000000	T	0.30448	0.0765	M	0.62088	1.915	0.51482	D	0.999922	D;D	0.89917	1.0;1.0	D;D	0.81914	0.992;0.995	T	0.01165	-1.1431	10	0.66056	D	0.02	-18.543	20.1577	0.98120	0.0:1.0:0.0:0.0	.	779;779	F5H5M3;O60522	.;TDRD6_HUMAN	C	779	ENSP00000443299:S779C;ENSP00000346065:S779C	ENSP00000346065:S779C	S	+	2	0	TDRD6	46766160	1.000000	0.71417	0.933000	0.37362	0.265000	0.26407	5.750000	0.68712	2.767000	0.95098	0.655000	0.94253	TCT		0.388	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
KIF25	3834	broad.mit.edu	37	6	168443352	168443352	+	Missense_Mutation	SNP	C	C	T	rs368749020		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:168443352C>T	ENST00000443060.2	+	9	1332	c.941C>T	c.(940-942)cCg>cTg	p.P314L	KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Missense_Mutation_p.P314L			Q9UIL4	KIF25_HUMAN	kinesin family member 25	314	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGCCATGCCCCGTACCGGAAC	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		17772	0.0		0.0	False		,,,				2504	0.001					uc003qwk.1																			0				ovary(1)|pancreas(1)	2						c.(940-942)CCG>CTG		kinesin family member 25 isoform 1		C	,LEU/PRO	0,4406		0,0,2203	110.0	106.0	107.0		,941	4.1	0.1	6		107	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense	KIF25	NM_005355.3,NM_030615.2	,98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,probably-damaging	,314/385	168443352	1,13005	2203	4300	6503	SO:0001583	missense	3834				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	g.chr6:168443352C>T	AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.941C>T	6.37:g.168443352C>T	ENSP00000388878:p.Pro314Leu					KIF25_uc003qwl.1_Intron	p.P314L	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)	8	1203	+		Breast(66;1.07e-05)|Ovarian(120;0.0728)	314					O94775|Q5SZU9	Missense_Mutation	SNP	ENST00000443060.2	37	c.941C>T	CCDS5305.1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.397165	0.42512	0.0	1.16E-4	ENSG00000125337	ENST00000443060;ENST00000354419	D;D	0.83335	-1.71;-1.71	4.13	4.13	0.48395	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.90072	0.6899	M	0.92367	3.3	0.80722	D	1	D	0.65815	0.995	P	0.60415	0.874	D	0.92121	0.5704	10	0.66056	D	0.02	-2.5262	13.6293	0.62186	0.0:1.0:0.0:0.0	.	314	Q9UIL4	KIF25_HUMAN	L	314	ENSP00000388878:P314L;ENSP00000346401:P314L	ENSP00000346401:P314L	P	+	2	0	KIF25	168186201	0.989000	0.36119	0.051000	0.19133	0.012000	0.07955	4.012000	0.57131	2.011000	0.59026	0.543000	0.68304	CCG		0.652	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1		
ZDHHC4	55146	broad.mit.edu	37	7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:6628405G>A	ENST00000396706.2	+	8	1342	c.899G>A	c.(898-900)cGt>cAt	p.R300H	ZDHHC4_ENST00000335965.6_Missense_Mutation_p.R300H|AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396707.2_Missense_Mutation_p.R300H|ZDHHC4_ENST00000396709.1_Missense_Mutation_p.R300H|ZDHHC4_ENST00000405731.3_Missense_Mutation_p.R300H|C7orf26_ENST00000344417.5_5'Flank|ZDHHC4_ENST00000396713.2_Missense_Mutation_p.R300H|C7orf26_ENST00000359073.5_5'Flank			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	300						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.R300H(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577																																						uc003sqi.2																			2	Substitution - Missense(2)		upper_aerodigestive_tract(1)|prostate(1)	breast(1)|pancreas(1)	2						c.(898-900)CGT>CAT		zinc finger, DHHC-type containing 4							122.0	109.0	113.0					7																	6628405		2203	4300	6503	SO:0001583	missense	55146					integral to membrane	acyltransferase activity|zinc ion binding	g.chr7:6628405G>A	AF201931	CCDS5352.1	7p22.1	2011-01-11			ENSG00000136247	ENSG00000136247		"""Zinc fingers, DHHC-type"""	18471	protein-coding gene	gene with protein product							Standard	NM_018106		Approved	FLJ10479, ZNF374	uc003sqj.3	Q9NPG8	OTTHUMG00000023579	ENST00000396706.2:c.899G>A	7.37:g.6628405G>A	ENSP00000379934:p.Arg300His					ZDHHC4_uc003sql.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqk.2_Missense_Mutation_p.R300H|ZDHHC4_uc003sqm.2_Missense_Mutation_p.R300H|uc011jwy.1_5'Flank|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank|C7orf26_uc003sqq.1_5'Flank	p.R300H	NM_001134388	NP_001127860	Q9NPG8	ZDHC4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)	9	1257	+		Ovarian(82;0.232)	300					A4D2N9|Q53EV7|Q6FIB5|Q9H0R9	Missense_Mutation	SNP	ENST00000396706.2	37	c.899G>A	CCDS5352.1	.	.	.	.	.	.	.	.	.	.	G	6.659	0.490085	0.12702	.	.	ENSG00000136247	ENST00000405731;ENST00000396713;ENST00000396707;ENST00000335965;ENST00000396709;ENST00000396706	T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35	4.53	-8.02	0.01118	.	0.684599	0.14827	N	0.296085	T	0.07234	0.0183	N	0.02158	-0.66	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30357	-0.9981	10	0.02654	T	1	-20.1553	3.7761	0.08660	0.3325:0.1185:0.4324:0.1166	.	300	Q9NPG8	ZDHC4_HUMAN	H	300	ENSP00000385027:R300H;ENSP00000379941:R300H;ENSP00000379935:R300H;ENSP00000337475:R300H;ENSP00000379937:R300H;ENSP00000379934:R300H	ENSP00000337475:R300H	R	+	2	0	ZDHHC4	6594930	0.000000	0.05858	0.000000	0.03702	0.226000	0.24999	-0.511000	0.06321	-1.175000	0.02751	-1.099000	0.02127	CGT		0.577	ZDHHC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207477.3	NM_018106	
GHRHR	2692	broad.mit.edu	37	7	31014610	31014610	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:31014610C>T	ENST00000326139.2	+	9	883	c.837C>T	c.(835-837)tcC>tcT	p.S279S	GHRHR_ENST00000461424.1_3'UTR|GHRHR_ENST00000409904.3_Silent_p.S215S|GHRHR_ENST00000409316.1_Missense_Mutation_p.P46S	NM_000823.3	NP_000814.2	Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	279					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|cAMP-mediated signaling (GO:0019933)|cell maturation (GO:0048469)|cellular response to insulin stimulus (GO:0032869)|determination of adult lifespan (GO:0008340)|growth hormone secretion (GO:0030252)|hormone metabolic process (GO:0042445)|lactation (GO:0007595)|multicellular organismal reproductive process (GO:0048609)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell proliferation (GO:0008284)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of multicellular organism growth (GO:0040018)|regulation of intracellular steroid hormone receptor signaling pathway (GO:0033143)|regulation of protein metabolic process (GO:0051246)|response to estrogen (GO:0043627)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|somatotropin secreting cell development (GO:0060133)|water homeostasis (GO:0030104)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nuclear matrix (GO:0016363)|nuclear outer membrane (GO:0005640)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	G-protein coupled receptor activity (GO:0004930)|growth factor binding (GO:0019838)|growth hormone-releasing hormone receptor activity (GO:0016520)|peptide hormone binding (GO:0017046)			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)|Tesamorelin(DB08869)	ACGACACCTCCCCCTACTGGT	0.587											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc003tbx.2																			0				ovary(2)|lung(1)|breast(1)|large_intestine(1)	5						c.(835-837)TCC>TCT		growth hormone releasing hormone receptor	Sermorelin(DB00010)						164.0	142.0	149.0					7																	31014610		2203	4300	6503	SO:0001819	synonymous_variant	2692				activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding	g.chr7:31014610C>T		CCDS5432.1	7p14	2012-08-10			ENSG00000106128	ENSG00000106128		"""GPCR / Class B : Glucagon receptors"""	4266	protein-coding gene	gene with protein product		139191				7680413, 7514564	Standard	NM_000823		Approved		uc003tbx.3	Q02643	OTTHUMG00000152801	ENST00000326139.2:c.837C>T	7.37:g.31014610C>T			OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	821	GHRHR_uc003tbw.1_Silent_p.S279S|GHRHR_uc003tby.2_Silent_p.S215S|GHRHR_uc003tbz.2_Missense_Mutation_p.P46S	p.S279S	NM_000823	NP_000814	Q02643	GHRHR_HUMAN			9	885	+			279			Extracellular (Potential).		Q99863	Silent	SNP	ENST00000326139.2	37	c.837C>T	CCDS5432.1	.	.	.	.	.	.	.	.	.	.	C	12.30	1.896605	0.33535	.	.	ENSG00000106128	ENST00000409233;ENST00000409316	.	.	.	5.51	3.68	0.42216	.	.	.	.	.	T	0.41488	0.1161	.	.	.	0.80722	D	1	P	0.38335	0.627	B	0.39258	0.295	T	0.18493	-1.0335	6	.	.	.	.	10.2578	0.43408	0.0:0.8565:0.0:0.1435	.	46	Q9HB43	.	S	67;46	.	.	P	+	1	0	GHRHR	30981135	0.945000	0.32115	1.000000	0.80357	0.736000	0.42039	-0.019000	0.12546	2.582000	0.87167	0.650000	0.86243	CCC		0.587	GHRHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327967.2		
SAMD9L	219285	broad.mit.edu	37	7	92765183	92765183	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:92765183C>T	ENST00000318238.4	-	5	1318	c.102G>A	c.(100-102)ggG>ggA	p.G34G	SAMD9L_ENST00000437805.1_Silent_p.G34G|SAMD9L_ENST00000411955.1_Silent_p.G34G	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	34	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCAGAATTTGCCCGTATTGCT	0.403																																						uc003umh.1																			0				ovary(4)	4						c.(100-102)GGG>GGA		sterile alpha motif domain containing 9-like							118.0	118.0	118.0					7																	92765183		2203	4300	6503	SO:0001819	synonymous_variant	219285							g.chr7:92765183C>T	AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.102G>A	7.37:g.92765183C>T						SAMD9L_uc003umj.1_Silent_p.G34G|SAMD9L_uc003umi.1_Silent_p.G34G|SAMD9L_uc010lfb.1_Silent_p.G34G|SAMD9L_uc003umk.1_Silent_p.G34G|SAMD9L_uc010lfc.1_Silent_p.G34G|SAMD9L_uc010lfd.1_Silent_p.G34G|SAMD9L_uc011khx.1_Silent_p.G25G	p.G34G	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	STAD - Stomach adenocarcinoma(171;0.000302)		5	1318	-	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		34			SAM.		A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Silent	SNP	ENST00000318238.4	37	c.102G>A	CCDS34681.1																																																																																				0.403	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
CNTNAP2	26047	broad.mit.edu	37	7	147844679	147844679	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:147844679G>A	ENST00000361727.3	+	17	3167	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q	CNTNAP2_ENST00000538075.1_5'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	884	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGTGGCACCGGGTCACTGCA	0.582										HNSCC(39;0.1)																												uc003weu.1																			0				ovary(9)|central_nervous_system(1)|pancreas(1)	11						c.(2650-2652)CGG>CAG		cell recognition molecule Caspr2 precursor							120.0	111.0	114.0					7																	147844679		2203	4300	6503	SO:0001583	missense	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147844679G>A	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2651G>A	7.37:g.147844679G>A	ENSP00000354778:p.Arg884Gln	HNSCC(39;0.1)					p.R884Q	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		17	3167	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	884			Laminin G-like 3.|Extracellular (Potential).		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	c.2651G>A	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.333119	0.81801	.	.	ENSG00000174469	ENST00000361727	T	0.78126	-1.15	5.34	5.34	0.76211	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.143105	0.47852	D	0.000209	T	0.71256	0.3318	L	0.46567	1.45	0.80722	D	1	P	0.36010	0.532	B	0.34779	0.189	T	0.68236	-0.5462	10	0.14252	T	0.57	.	17.6488	0.88157	0.0:0.0:1.0:0.0	.	884	Q9UHC6	CNTP2_HUMAN	Q	884	ENSP00000354778:R884Q	ENSP00000354778:R884Q	R	+	2	0	CNTNAP2	147475612	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.621000	0.74228	2.507000	0.84556	0.561000	0.74099	CGG		0.582	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
UBE3C	9690	broad.mit.edu	37	7	156963055	156963055	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:156963055G>A	ENST00000348165.5	+	4	613	c.253G>A	c.(253-255)Gct>Act	p.A85T	UBE3C_ENST00000389103.4_Missense_Mutation_p.A42T	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	85					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTCCGGGGGCGCTTTTCCCAT	0.398																																						uc010lqs.2																			0				ovary(2)|lung(2)|large_intestine(1)	5						c.(253-255)GCT>ACT		ubiquitin protein ligase E3C							153.0	147.0	149.0					7																	156963055		2203	4300	6503	SO:0001583	missense	9690				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	g.chr7:156963055G>A	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.253G>A	7.37:g.156963055G>A	ENSP00000309198:p.Ala85Thr					UBE3C_uc003wnf.2_Missense_Mutation_p.A42T|UBE3C_uc003wng.2_Missense_Mutation_p.A85T	p.A85T	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)	4	565	+		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	85					A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	ENST00000348165.5	37	c.253G>A	CCDS34789.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.585210	0.00872	.	.	ENSG00000009335	ENST00000348165;ENST00000389103	T	0.43294	0.95	4.82	-2.14	0.07123	.	0.444511	0.24490	N	0.038079	T	0.13030	0.0316	N	0.02802	-0.49	0.21220	N	0.999754	B;B;B	0.06786	0.0;0.001;0.001	B;B;B	0.04013	0.0;0.001;0.001	T	0.24728	-1.0152	10	0.12430	T	0.62	.	5.7305	0.18036	0.5825:0.0:0.2993:0.1182	.	85;85;42	Q15386;Q15386-2;Q15386-3	UBE3C_HUMAN;.;.	T	85;42	ENSP00000309198:A85T	ENSP00000309198:A85T	A	+	1	0	UBE3C	156655816	0.028000	0.19301	0.014000	0.15608	0.084000	0.17831	-0.112000	0.10791	-0.723000	0.04915	-2.348000	0.00243	GCT		0.398	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348108.1	NM_014671	
ADAM28	10863	broad.mit.edu	37	8	24199261	24199261	+	Silent	SNP	C	C	T	rs149263503	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:24199261C>T	ENST00000265769.4	+	16	1931	c.1821C>T	c.(1819-1821)ggC>ggT	p.G607G	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G354G|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	607	Cys-rich.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.G607G(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTAAGTGTGGCGATAACAAGG	0.408																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.2																			2	Substitution - coding silent(2)		prostate(2)	skin(3)|lung(1)|central_nervous_system(1)	5						c.(1819-1821)GGC>GGT		ADAM metallopeptidase domain 28 isoform 1		T		4,4402	8.1+/-20.4	0,4,2199	176.0	170.0	172.0		1821	-11.3	0.0	8	dbSNP_134	172	0,8600		0,0,4300	no	coding-synonymous	ADAM28	NM_014265.4		0,4,6499	TT,TC,CC		0.0,0.0908,0.0308		607/776	24199261	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24199261C>T	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.1821C>T	8.37:g.24199261C>T						ADAM28_uc011laa.1_RNA|ADAM28_uc010lua.2_Silent_p.G294G	p.G607G	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	16	1904	+		Prostate(55;0.0959)	607			Extracellular (Potential).|Cys-rich.		B2RMV5|Q9Y339|Q9Y3S0	Silent	SNP	ENST00000265769.4	37	c.1821C>T	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	c	3.672	-0.067409	0.07273	9.08E-4	0.0	ENSG00000042980	ENST00000521629;ENST00000518326	.	.	.	5.83	-11.3	0.00108	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.3085	0.00284	0.2618:0.1589:0.238:0.3413	.	.	.	.	X	240;33	.	.	R	+	1	2	ADAM28	24255206	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.125000	0.03257	-2.063000	0.00890	-1.885000	0.00541	CGA		0.408	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
PXDNL	137902	broad.mit.edu	37	8	52387699	52387699	+	Missense_Mutation	SNP	C	C	T	rs199619104		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:52387699C>T	ENST00000356297.4	-	7	627	c.527G>A	c.(526-528)cGt>cAt	p.R176H	PXDNL_ENST00000543296.1_Missense_Mutation_p.R176H	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	176					hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	endonuclease activity (GO:0004519)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAATCCAGACGCCTAGGCAT	0.468																																						uc003xqu.3																			0				ovary(1)|pancreas(1)	2						c.(526-528)CGT>CAT		peroxidasin homolog-like precursor							53.0	51.0	52.0					8																	52387699		1910	4132	6042	SO:0001583	missense	137902				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	g.chr8:52387699C>T		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.527G>A	8.37:g.52387699C>T	ENSP00000348645:p.Arg176His						p.R176H	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN			7	628	-		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)	176					B5ME43|B6CGZ3|H0YBM9|Q6ZMR2|Q96LH9	Missense_Mutation	SNP	ENST00000356297.4	37	c.527G>A	CCDS47855.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090048	0.36855	.	.	ENSG00000147485	ENST00000356297;ENST00000543296	T;T	0.57595	0.39;0.39	4.65	-1.38	0.09027	.	.	.	.	.	T	0.41673	0.1169	N	0.03304	-0.355	0.27013	N	0.964633	D	0.61080	0.989	P	0.59948	0.866	T	0.46359	-0.9197	9	0.59425	D	0.04	.	9.238	0.37477	0.0:0.516:0.0:0.484	.	176	A1KZ92	PXDNL_HUMAN	H	176	ENSP00000348645:R176H;ENSP00000444865:R176H	ENSP00000348645:R176H	R	-	2	0	PXDNL	52550252	0.415000	0.25416	0.003000	0.11579	0.085000	0.17905	1.472000	0.35376	-0.620000	0.05641	-0.145000	0.13849	CGT		0.468	PXDNL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377905.1	NM_144651	
NDUFAF6	137682	broad.mit.edu	37	8	96047748	96047748	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:96047748G>A	ENST00000396124.4	+	3	387	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	NDUFAF6_ENST00000396111.2_Missense_Mutation_p.E30K|NDUFAF6_ENST00000286687.4_5'UTR|NDUFAF6_ENST00000396113.1_Missense_Mutation_p.E30K|NDUFAF6_ENST00000542894.1_Missense_Mutation_p.E70K	NM_152416.3	NP_689629.2	Q330K2	NDUF6_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 6	122					biosynthetic process (GO:0009058)|mitochondrial respiratory chain complex I assembly (GO:0032981)	cytoplasm (GO:0005737)|mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	transferase activity (GO:0016740)										AAAAACTGTGGAAGATATATA	0.328																																						uc003yhj.2																			0					0						c.(364-366)GAA>AAA		hypothetical protein LOC137682 precursor							62.0	63.0	62.0					8																	96047748		1835	4076	5911	SO:0001583	missense	137682				biosynthetic process	mitochondrion	transferase activity	g.chr8:96047748G>A	BC028166	CCDS6266.2	8q22.1	2013-10-21	2012-05-08	2012-05-08	ENSG00000156170	ENSG00000156170		"""Mitochondrial respiratory chain complex assembly factors"""	28625	protein-coding gene	gene with protein product		612392	"""chromosome 8 open reading frame 38"""	C8orf38		22019594, 23509070	Standard	NM_152416		Approved	MGC40214	uc003yhj.3	Q330K2	OTTHUMG00000150173	ENST00000396124.4:c.364G>A	8.37:g.96047748G>A	ENSP00000379430:p.Glu122Lys					C8orf38_uc003yhe.1_RNA|C8orf38_uc003yhf.2_Missense_Mutation_p.E30K|C8orf38_uc011lgs.1_RNA|C8orf38_uc003yhi.2_Missense_Mutation_p.E70K|C8orf38_uc003yhk.2_RNA|C8orf38_uc003yhl.2_Missense_Mutation_p.E30K	p.E122K	NM_152416	NP_689629	Q330K2	CH038_HUMAN			3	380	+	Breast(36;3.32e-06)		122					A8MT28|A8MWF0|B4DQ45|Q8N6U6	Missense_Mutation	SNP	ENST00000396124.4	37	c.364G>A	CCDS6266.2	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684139	0.68157	.	.	ENSG00000156170	ENST00000523378;ENST00000396113;ENST00000396111;ENST00000519136;ENST00000542894;ENST00000396124;ENST00000519804	D;D;D;D;D;D;D	0.82619	-1.63;-1.63;-1.63;-1.63;-1.63;-1.63;-1.63	5.5	5.5	0.81552	Terpenoid synthase (2);	0.131786	0.49305	U	0.000145	T	0.79828	0.4513	L	0.39147	1.195	0.53688	D	0.999979	B;B;B	0.27166	0.003;0.024;0.17	B;B;B	0.39339	0.027;0.061;0.297	T	0.72516	-0.4269	10	0.13108	T	0.6	-26.9656	13.8572	0.63534	0.0:0.1533:0.8467:0.0	.	122;70;90	Q330K2;Q330K2-2;B4DQ45	CH038_HUMAN;.;.	K	30;30;30;11;70;122;11	ENSP00000428034:E30K;ENSP00000379419:E30K;ENSP00000379417:E30K;ENSP00000429585:E11K;ENSP00000444515:E70K;ENSP00000379430:E122K;ENSP00000430230:E11K	ENSP00000379417:E30K	E	+	1	0	C8orf38	96116924	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	6.868000	0.75516	2.591000	0.87537	0.591000	0.81541	GAA		0.328	NDUFAF6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316700.2	NM_152416	
PKHD1L1	93035	broad.mit.edu	37	8	110454293	110454293	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:110454293C>A	ENST00000378402.5	+	35	4366	c.4262C>A	c.(4261-4263)aCa>aAa	p.T1421K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1421	IPT/TIG 7.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			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)			GTGGGGGACACAGTGGCATGG	0.418										HNSCC(38;0.096)																												uc003yne.2																			0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.(4261-4263)ACA>AAA		fibrocystin L precursor							115.0	117.0	116.0					8																	110454293		1866	4106	5972	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110454293C>A	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.4262C>A	8.37:g.110454293C>A	ENSP00000367655:p.Thr1421Lys	HNSCC(38;0.096)					p.T1421K	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		35	4366	+			1421			Extracellular (Potential).|IPT/TIG 7.		Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.4262C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	8.704	0.910380	0.17833	.	.	ENSG00000205038	ENST00000378402	D	0.85171	-1.95	5.82	1.8	0.24995	Cupredoxin (1);	0.202657	0.42053	D	0.000771	T	0.75265	0.3826	L	0.55834	1.745	0.25344	N	0.98893	B	0.31318	0.319	B	0.26770	0.073	T	0.58312	-0.7658	10	0.15066	T	0.55	.	6.635	0.22877	0.0:0.6393:0.1313:0.2294	.	1421	Q86WI1	PKHL1_HUMAN	K	1421	ENSP00000367655:T1421K	ENSP00000367655:T1421K	T	+	2	0	PKHD1L1	110523469	0.996000	0.38824	0.963000	0.40424	0.380000	0.30137	1.375000	0.34295	0.820000	0.34516	-0.229000	0.12294	ACA		0.418	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
DEPTOR	64798	broad.mit.edu	37	8	120977651	120977651	+	Splice_Site	SNP	G	G	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:120977651G>T	ENST00000286234.5	+	4	734		c.e4+1		DEPTOR_ENST00000523492.1_Splice_Site	NM_022783.2	NP_073620.2	Q8TB45	DPTOR_HUMAN	DEP domain containing MTOR-interacting protein						intracellular signal transduction (GO:0035556)|negative regulation of cell size (GO:0045792)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of TOR signaling (GO:0032007)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)	intracellular (GO:0005622)				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	18						ATCCAGCATGGTGAGCgtatt	0.507																																						uc003yow.3																			0					0						c.e4+1		DEP domain containing 6							79.0	64.0	69.0					8																	120977651		2203	4300	6503	SO:0001630	splice_region_variant	64798				intracellular signal transduction|negative regulation of cell size|negative regulation of protein kinase activity|negative regulation of TOR signaling cascade|regulation of apoptosis	intracellular	protein binding	g.chr8:120977651G>T		CCDS6331.1, CCDS64960.1	8q24.12	2011-12-13	2010-12-08	2010-12-08	ENSG00000155792	ENSG00000155792			22953	protein-coding gene	gene with protein product		612974	"""DEP domain containing 6"""	DEPDC6		19446321	Standard	NM_022783		Approved	DEP.6, FLJ12428	uc003yow.4	Q8TB45	OTTHUMG00000165052	ENST00000286234.5:c.604+1G>T	8.37:g.120977651G>T						DEPDC6_uc011lid.1_Splice_Site_p.V101_splice	p.V202_splice	NM_022783	NP_073620	Q8TB45	DPTOR_HUMAN	STAD - Stomach adenocarcinoma(47;0.00185)		4	791	+	Lung NSC(37;9.35e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)							B2RCL9|B4DN97|E7EV87|Q96EQ1|Q9H0R7|Q9H894|Q9HA07	Splice_Site	SNP	ENST00000286234.5	37	c.604_splice	CCDS6331.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.834832	0.71373	.	.	ENSG00000155792	ENST00000523492;ENST00000286234	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6925	0.91588	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEPTOR	121046832	1.000000	0.71417	1.000000	0.80357	0.655000	0.38815	8.992000	0.93519	2.417000	0.82017	0.561000	0.74099	.		0.507	DEPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381601.1	NM_022783	Intron
ADCY8	114	broad.mit.edu	37	8	132002709	132002709	+	Missense_Mutation	SNP	C	C	T	rs201905912	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:132002709C>T	ENST00000286355.5	-	2	3132	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ADCY8_ENST00000377928.3_Missense_Mutation_p.R347H	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	347					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 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)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|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)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAAAGCTTGGCGCTGGGCCCG	0.522										HNSCC(32;0.087)			C|||	3	0.000599042	0.0	0.0014	5008	,	,		16887	0.0		0.0	False		,,,				2504	0.002					uc003ytd.3																			0				skin(4)|large_intestine(1)|central_nervous_system(1)	6						c.(1039-1041)CGC>CAC		adenylate cyclase 8							128.0	135.0	132.0					8																	132002709		2203	4300	6503	SO:0001583	missense	114				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|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|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding	g.chr8:132002709C>T	Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1040G>A	8.37:g.132002709C>T	ENSP00000286355:p.Arg347His	HNSCC(32;0.087)				ADCY8_uc010mds.2_Missense_Mutation_p.R347H	p.R347H	NM_001115	NP_001106	P40145	ADCY8_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.000538)		2	1296	-	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		347			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000286355.5	37	c.1040G>A	CCDS6363.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	36	5.781788	0.96929	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.83837	-1.77;-1.77	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.91828	0.7414	M	0.80847	2.515	0.50171	D	0.999857	D;D	0.89917	0.999;1.0	D;D	0.83275	0.98;0.996	D	0.91986	0.5599	10	0.72032	D	0.01	.	19.2284	0.93827	0.0:1.0:0.0:0.0	.	347;347	E7EVL1;P40145	.;ADCY8_HUMAN	H	347	ENSP00000286355:R347H;ENSP00000367161:R347H	ENSP00000286355:R347H	R	-	2	0	ADCY8	132071891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.857000	0.98124	0.650000	0.86243	CGC		0.522	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
ACO1	48	broad.mit.edu	37	9	32430435	32430435	+	Missense_Mutation	SNP	G	G	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:32430435G>T	ENST00000309951.6	+	14	1727	c.1589G>T	c.(1588-1590)gGa>gTa	p.G530V	ACO1_ENST00000379923.1_Missense_Mutation_p.G530V|ACO1_ENST00000541043.1_Missense_Mutation_p.G431V	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble	530					cellular iron ion homeostasis (GO:0006879)|citrate metabolic process (GO:0006101)|intestinal absorption (GO:0050892)|post-embryonic development (GO:0009791)|regulation of translation (GO:0006417)|response to iron(II) ion (GO:0010040)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|aconitate hydratase activity (GO:0003994)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GTAGCTGTTGGAGTACTATCT	0.453																																						uc003zqw.3																			0					0						c.(1588-1590)GGA>GTA		aconitase 1							151.0	142.0	145.0					9																	32430435		2203	4300	6503	SO:0001583	missense	48				citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding	g.chr9:32430435G>T	M58510	CCDS6525.1	9p21.1	2013-05-21			ENSG00000122729	ENSG00000122729	4.2.1.3		117	protein-coding gene	gene with protein product	"""aconitate hydratase, cytoplasmic"""	100880		IREB1		2172968, 2771641	Standard	NM_002197		Approved	IRP1, IREBP	uc003zqw.4	P21399	OTTHUMG00000019740	ENST00000309951.6:c.1589G>T	9.37:g.32430435G>T	ENSP00000309477:p.Gly530Val					ACO1_uc010mjh.1_Missense_Mutation_p.G364V|ACO1_uc003zqx.3_Missense_Mutation_p.G530V|ACO1_uc003zqy.3_RNA	p.G530V	NM_002197	NP_002188	P21399	ACOC_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)	14	1744	+			530					D3DRK7|Q14652|Q5VZA7	Missense_Mutation	SNP	ENST00000309951.6	37	c.1589G>T	CCDS6525.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.921628	0.92319	.	.	ENSG00000122729	ENST00000432017;ENST00000309951;ENST00000379923;ENST00000541043	T;T;T	0.39056	1.1;1.1;1.1	6.05	6.05	0.98169	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.000000	0.85682	D	0.000000	T	0.64681	0.2620	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;0.978	D;P	0.80764	0.994;0.824	T	0.64084	-0.6490	10	0.87932	D	0	-18.0766	19.3727	0.94495	0.0:0.0:1.0:0.0	.	566;530	Q59FI0;P21399	.;ACOC_HUMAN	V	566;530;530;431	ENSP00000309477:G530V;ENSP00000369255:G530V;ENSP00000438733:G431V	ENSP00000309477:G530V	G	+	2	0	ACO1	32420435	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.878000	0.98634	0.650000	0.86243	GGA		0.453	ACO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051998.3	NM_002197	
DAPK1	1612	broad.mit.edu	37	9	90220082	90220082	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:90220082C>T	ENST00000408954.3	+	3	611	c.276C>T	c.(274-276)atC>atT	p.I92I	DAPK1_ENST00000358077.5_Silent_p.I92I|DAPK1_ENST00000472284.1_Silent_p.I92I|DAPK1_ENST00000491893.1_Silent_p.I92I|DAPK1_ENST00000469640.2_Silent_p.I92I	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	92	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCATCCTGATCTTGGAACTGT	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of																													uc004apc.2																			0				ovary(1)|breast(1)	2						c.(274-276)ATC>ATT		death-associated protein kinase 1							62.0	62.0	62.0					9																	90220082		2194	4298	6492	SO:0001819	synonymous_variant	1612	Chronic_Lymphocytic_Leukemia_Familial_Clustering_of	Familial Cancer Database	Familial CLL	apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity	g.chr9:90220082C>T	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.276C>T	9.37:g.90220082C>T						DAPK1_uc004ape.2_Silent_p.I92I|DAPK1_uc004apd.2_Silent_p.I92I|DAPK1_uc011ltg.1_Silent_p.I92I|DAPK1_uc011lth.1_5'UTR	p.I92I	NM_004938	NP_004929	P53355	DAPK1_HUMAN			3	414	+			92			Protein kinase.		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Silent	SNP	ENST00000408954.3	37	c.276C>T	CCDS43842.1																																																																																				0.612	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	
SNX30	401548	broad.mit.edu	37	9	115580093	115580093	+	Missense_Mutation	SNP	C	C	G			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:115580093C>G	ENST00000374232.3	+	3	621	c.457C>G	c.(457-459)Ccc>Gcc	p.P153A		NM_001012994.1	NP_001013012.1	Q5VWJ9	SNX30_HUMAN	sorting nexin family member 30	153	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCATCTCATTCCCGTAGGTAG	0.458																																						uc004bgj.3																			0					0						c.(457-459)CCC>GCC		sorting nexin family member 30							115.0	114.0	114.0					9																	115580093		1917	4133	6050	SO:0001583	missense	401548				cell communication|protein transport	cytoplasm	phosphatidylinositol binding	g.chr9:115580093C>G	AK126644	CCDS43865.1	9q33.1	2014-02-12			ENSG00000148158	ENSG00000148158		"""Sorting nexins"""	23685	protein-coding gene	gene with protein product							Standard	NM_001012994		Approved	ATG24A	uc004bgj.4	Q5VWJ9	OTTHUMG00000020512	ENST00000374232.3:c.457C>G	9.37:g.115580093C>G	ENSP00000363349:p.Pro153Ala						p.P153A	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN			3	605	+			153			PX.			Missense_Mutation	SNP	ENST00000374232.3	37	c.457C>G	CCDS43865.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773417	0.90108	.	.	ENSG00000148158	ENST00000374232	T	0.61980	0.06	5.4	5.4	0.78164	Phox homologous domain (5);	0.107603	0.64402	D	0.000004	D	0.83552	0.5279	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.86468	0.1783	10	0.72032	D	0.01	.	19.1299	0.93400	0.0:1.0:0.0:0.0	.	153	Q5VWJ9	SNX30_HUMAN	A	153	ENSP00000363349:P153A	ENSP00000363349:P153A	P	+	1	0	SNX30	114619914	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.901000	0.75693	2.687000	0.91594	0.563000	0.77884	CCC		0.458	SNX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053700.1		
OR1J1	347168	broad.mit.edu	37	9	125239495	125239495	+	Silent	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:125239495G>A	ENST00000259357.2	-	1	740	c.711C>T	c.(709-711)gcC>gcT	p.A237A	RP11-542K23.9_ENST00000412262.2_RNA	NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGTGGACAAGGCTTTGCATA	0.468																																						uc011lyu.1																			0				skin(2)	2						c.(709-711)GCC>GCT		olfactory receptor, family 1, subfamily J,							143.0	128.0	133.0					9																	125239495		2203	4300	6503	SO:0001819	synonymous_variant	347168				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125239495G>A	AL353767	CCDS35120.1	9q33.2	2013-09-20			ENSG00000136834	ENSG00000136834		"""GPCR / Class A : Olfactory receptors"""	8208	protein-coding gene	gene with protein product							Standard	NM_001004451		Approved	hg32	uc011lyu.2	Q8NGS3	OTTHUMG00000020603	ENST00000259357.2:c.711C>T	9.37:g.125239495G>A						OR1J2_uc004bmj.1_Intron	p.A237A	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN			1	711	-			237			Helical; Name=6; (Potential).		A3KFL8|Q6IF10|Q96R88	Silent	SNP	ENST00000259357.2	37	c.711C>T	CCDS35120.1																																																																																				0.468	OR1J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053931.1		
SDCCAG3	10807	broad.mit.edu	37	9	139299619	139299619	+	Missense_Mutation	SNP	A	A	G	rs376328321		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:139299619A>G	ENST00000357365.3	-	7	1058	c.929T>C	c.(928-930)aTg>aCg	p.M310T	SDCCAG3_ENST00000298537.7_Missense_Mutation_p.M287T|SDCCAG3_ENST00000461693.1_5'UTR|SDCCAG3_ENST00000371725.3_Missense_Mutation_p.M237T	NM_001039707.1	NP_001034796.1	Q96C92	SDCG3_HUMAN	serologically defined colon cancer antigen 3	310						cytoplasm (GO:0005737)				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CTCCTTGATCATTTTTGCTTC	0.463																																						uc004chi.2																			0					0						c.(928-930)ATG>ACG		serologically defined colon cancer antigen 3		A	THR/MET,THR/MET,THR/MET	0,3830		0,0,1915	122.0	117.0	118.0		929,710,860	4.5	0.9	9		118	1,8271		0,1,4135	no	missense,missense,missense	SDCCAG3	NM_001039707.1,NM_001039708.1,NM_006643.3	81,81,81	0,1,6050	GG,GA,AA		0.0121,0.0,0.0083	possibly-damaging,possibly-damaging,possibly-damaging	310/436,237/363,287/413	139299619	1,12101	1915	4136	6051	SO:0001583	missense	10807					cytoplasm		g.chr9:139299619A>G	AF039688	CCDS6999.2, CCDS43903.1, CCDS43904.1	9q34.3	2010-10-27			ENSG00000165689	ENSG00000165689			10667	protein-coding gene	gene with protein product						9610721	Standard	XM_005266050		Approved	NY-CO-3	uc004chi.3	Q96C92	OTTHUMG00000020928	ENST00000357365.3:c.929T>C	9.37:g.139299619A>G	ENSP00000349929:p.Met310Thr					SDCCAG3_uc004chj.2_Missense_Mutation_p.M287T|SDCCAG3_uc004chk.2_Missense_Mutation_p.M237T	p.M310T	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)	7	1134	-		Myeloproliferative disorder(178;0.0511)	310			Potential.		A6NCP1|O60525|Q5SXN1|Q5SXN2|Q5SXN3|Q5SXN4|Q5SXN8|Q6V704|Q9NVY5	Missense_Mutation	SNP	ENST00000357365.3	37	c.929T>C	CCDS43904.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.903|6.903	0.536122|0.536122	0.13188|0.13188	0.0|0.0	1.21E-4|1.21E-4	ENSG00000165689|ENSG00000165689	ENST00000357365;ENST00000298537;ENST00000371725|ENST00000417512	T;T;T|.	0.77358|.	1.63;-1.09;1.63|.	4.53|4.53	4.53|4.53	0.55603|0.55603	.|.	0.339800|.	0.32372|.	N|.	0.006194|.	T|.	0.57548|.	0.2061|.	M|M	0.62723|0.62723	1.935|1.935	0.33084|0.33084	D|D	0.537062|0.537062	P;P;P|.	0.49783|.	0.622;0.865;0.928|.	B;P;P|.	0.50896|.	0.217;0.503;0.653|.	T|.	0.67337|.	-0.5696|.	10|.	0.19590|.	T|.	0.45|.	-26.4957|-26.4957	9.279|9.279	0.37716|0.37716	0.8281:0.0:0.0:0.1719|0.8281:0.0:0.0:0.1719	.|.	237;287;310|.	Q96C92-4;Q96C92-2;Q96C92|.	.;.;SDCG3_HUMAN|.	T|R	310;287;237|51	ENSP00000349929:M310T;ENSP00000298537:M287T;ENSP00000360790:M237T|.	ENSP00000298537:M287T|.	M|X	-|-	2|1	0|0	SDCCAG3|SDCCAG3	138419440|138419440	0.996000|0.996000	0.38824|0.38824	0.881000|0.881000	0.34555|0.34555	0.310000|0.310000	0.27922|0.27922	2.030000|2.030000	0.41108|0.41108	1.801000|1.801000	0.52704|0.52704	0.460000|0.460000	0.39030|0.39030	ATG|TGA		0.463	SDCCAG3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055060.2	NM_006643	
MXRA5	25878	broad.mit.edu	37	X	3235173	3235173	+	Silent	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:3235173C>T	ENST00000217939.6	-	6	6703	c.6549G>A	c.(6547-6549)ccG>ccA	p.P2183P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2183	Ig-like C2-type 6.					extracellular vesicular exosome (GO:0070062)				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)				TCCTCTTGGACGGCAGCCTCC	0.637																																						uc004crg.3																			0				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8						c.(6547-6549)CCG>CCA		adlican precursor							15.0	14.0	15.0					X																	3235173		2192	4287	6479	SO:0001819	synonymous_variant	25878					extracellular region		g.chrX:3235173C>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.6549G>A	X.37:g.3235173C>T							p.P2183P	NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN			6	6706	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2183			Ig-like C2-type 6.		Q6P1M7|Q9Y3Y8	Silent	SNP	ENST00000217939.6	37	c.6549G>A	CCDS14124.1																																																																																				0.637	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
TLR7	51284	broad.mit.edu	37	X	12905182	12905182	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:12905182C>A	ENST00000380659.3	+	3	1694	c.1555C>A	c.(1555-1557)Ctc>Atc	p.L519I		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	519					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|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-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	TCTTTCTTTCCTCAAATGCCT	0.378																																						uc004cvc.2																			0				ovary(2)|lung(2)|breast(1)	5						c.(1555-1557)CTC>ATC		toll-like receptor 7 precursor	Imiquimod(DB00724)						126.0	135.0	132.0					X																	12905182		2203	4300	6503	SO:0001583	missense	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905182C>A	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.1555C>A	X.37:g.12905182C>A	ENSP00000370034:p.Leu519Ile						p.L519I	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	1694	+			519			Extracellular (Potential).|LRR 17.		D1CS69|Q9NR98	Missense_Mutation	SNP	ENST00000380659.3	37	c.1555C>A	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	0.010	-1.755156	0.00663	.	.	ENSG00000196664	ENST00000380659	T	0.80653	-1.4	5.84	4.97	0.65823	.	0.080279	0.52532	D	0.000071	T	0.81498	0.4835	M	0.81614	2.55	0.53005	D	0.99996	B	0.30973	0.302	B	0.36666	0.23	T	0.76900	-0.2788	10	0.08381	T	0.77	.	15.5644	0.76277	0.1388:0.8612:0.0:0.0	.	519	Q9NYK1	TLR7_HUMAN	I	519	ENSP00000370034:L519I	ENSP00000370034:L519I	L	+	1	0	TLR7	12815103	1.000000	0.71417	0.986000	0.45419	0.014000	0.08584	3.922000	0.56462	1.219000	0.43474	-0.222000	0.12452	CTC		0.378	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1	NM_016562	
DDX53	168400	broad.mit.edu	37	X	23019720	23019720	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:23019720G>A	ENST00000327968.5	+	1	1634	c.1546G>A	c.(1546-1548)Gga>Aga	p.G516R	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	516	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|RNA binding (GO:0003723)			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CTTTAAAAGCGGAAACATAAA	0.373																																						uc004daj.2																			0				large_intestine(1)|ovary(1)|kidney(1)	3						c.(1546-1548)GGA>AGA		DEAD (Asp-Glu-Ala-Asp) box polypeptide 53							114.0	106.0	109.0					X																	23019720		2203	4300	6503	SO:0001583	missense	168400					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chrX:23019720G>A	AY039237	CCDS35214.1	Xp22.13	2009-03-25			ENSG00000184735	ENSG00000184735		"""DEAD-boxes"""	20083	protein-coding gene	gene with protein product	"""cancer associated gene"", ""cancer/testis antigen 26"""						Standard	NM_182699		Approved	CAGE, CT26	uc004daj.3	Q86TM3	OTTHUMG00000021248	ENST00000327968.5:c.1546G>A	X.37:g.23019720G>A	ENSP00000368667:p.Gly516Arg						p.G516R	NM_182699	NP_874358	Q86TM3	DDX53_HUMAN			1	1634	+			516			Helicase C-terminal.		Q0D2N2|Q6NVV4	Missense_Mutation	SNP	ENST00000327968.5	37	c.1546G>A	CCDS35214.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060998	0.55432	.	.	ENSG00000184735	ENST00000327968	T	0.09073	3.02	3.65	3.65	0.41850	Helicase, C-terminal (3);	0.178179	0.49916	D	0.000140	T	0.28466	0.0704	M	0.79693	2.465	0.21020	N	0.999807	D	0.89917	1.0	D	0.76575	0.988	T	0.02860	-1.1101	10	0.87932	D	0	3.0122	12.3138	0.54944	0.0:0.0:1.0:0.0	.	516	Q86TM3	DDX53_HUMAN	R	516	ENSP00000368667:G516R	ENSP00000368667:G516R	G	+	1	0	DDX53	22929641	0.780000	0.28664	0.006000	0.13384	0.006000	0.05464	5.721000	0.68477	1.838000	0.53458	0.600000	0.82982	GGA		0.373	DDX53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056043.1	NM_182699	
CXorf21	80231	broad.mit.edu	37	X	30577750	30577750	+	Silent	SNP	C	C	T	rs377147619		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:30577750C>T	ENST00000378962.3	-	3	1045	c.723G>A	c.(721-723)gcG>gcA	p.A241A		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	241										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TGAGTTCAGACGCCAGAATCT	0.438													C|||	1	0.000264901	0.0	0.0	3775	,	,		15769	0.001		0.0	False		,,,				2504	0.0					uc004dcg.1																			0				ovary(1)	1						c.(721-723)GCG>GCA		hypothetical protein LOC80231		C		0,3833		0,0,0,1631,571	136.0	118.0	124.0		723	-6.2	1.0	X		124	2,6726		0,0,2,2428,1870	no	coding-synonymous	CXorf21	NM_025159.2		0,0,2,4059,2441	TT,TC,T,CC,C		0.0297,0.0,0.0189		241/302	30577750	2,10559	2202	4300	6502	SO:0001819	synonymous_variant	80231							g.chrX:30577750C>T	BC020611	CCDS14224.1	Xp21.3	2006-04-12			ENSG00000120280	ENSG00000120280			25667	protein-coding gene	gene with protein product						12477932	Standard	NM_025159		Approved	FLJ11577	uc004dcg.2	Q9HAI6	OTTHUMG00000021325	ENST00000378962.3:c.723G>A	X.37:g.30577750C>T							p.A241A	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN			3	999	-			241						Silent	SNP	ENST00000378962.3	37	c.723G>A	CCDS14224.1																																																																																				0.438	CXorf21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056164.1	NM_025159	
GRIPAP1	56850	broad.mit.edu	37	X	48839756	48839756	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:48839756G>A	ENST00000376441.1	-	16	1403	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	GRIPAP1_ENST00000376423.4_Missense_Mutation_p.R404W|GRIPAP1_ENST00000473581.1_5'UTR|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.R426W|GRIPAP1_ENST00000376444.3_Missense_Mutation_p.R412W	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	457						blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TTCTCATGCCGTAGACGAACT	0.597																																						uc004dly.1																			0				breast(2)|kidney(1)	3						c.(1369-1371)CGG>TGG		GRIP1 associated protein 1 isoform 1							127.0	94.0	105.0					X																	48839756		2203	4300	6503	SO:0001583	missense	56850					early endosome		g.chrX:48839756G>A	AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.1369C>T	X.37:g.48839756G>A	ENSP00000365624:p.Arg457Trp					GRIPAP1_uc004dlz.2_Missense_Mutation_p.R347W|GRIPAP1_uc004dma.2_Missense_Mutation_p.R404W	p.R457W	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN			16	1404	-			457			Potential.		A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	Missense_Mutation	SNP	ENST00000376441.1	37	c.1369C>T	CCDS35248.1	.	.	.	.	.	.	.	.	.	.	-	15.46	2.839358	0.51057	.	.	ENSG00000068400	ENST00000376425;ENST00000376444;ENST00000376441;ENST00000537291;ENST00000376423	T;T;T;T	0.54279	0.58;1.87;1.87;1.87	4.26	3.38	0.38709	.	0.200289	0.33057	N	0.005324	T	0.45577	0.1349	N	0.08118	0	0.26509	N	0.974628	D;D;D	0.76494	0.999;0.998;0.998	P;P;P	0.56916	0.72;0.809;0.736	T	0.44922	-0.9296	10	0.87932	D	0	-3.1231	11.8092	0.52173	0.0:0.0:0.8228:0.1771	.	404;347;457	Q4V328-2;Q4V328-3;Q4V328	.;.;GRAP1_HUMAN	W	426;412;457;426;404	ENSP00000365608:R426W;ENSP00000365627:R412W;ENSP00000365624:R457W;ENSP00000365606:R404W	ENSP00000365606:R404W	R	-	1	2	GRIPAP1	48724700	1.000000	0.71417	0.558000	0.28319	0.118000	0.20060	2.929000	0.48916	0.623000	0.30267	0.471000	0.43371	CGG		0.597	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080970.2	NM_207672	
ITIH6	347365	broad.mit.edu	37	X	54785423	54785423	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:54785423C>T	ENST00000218436.6	-	8	1113	c.1084G>A	c.(1084-1086)Gtc>Atc	p.V362I		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	362	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GCTGAGTTGACGTCTGTCCCT	0.547																																						uc004dtj.2																			0				lung(2)|skin(2)|ovary(1)|breast(1)	6						c.(1084-1086)GTC>ATC		inter-alpha (globulin) inhibitor H5-like							11.0	9.0	10.0					X																	54785423		2167	4207	6374	SO:0001583	missense	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54785423C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.1084G>A	X.37:g.54785423C>T	ENSP00000218436:p.Val362Ile						p.V362I	NM_198510	NP_940912	Q6UXX5	ITH5L_HUMAN			8	1114	-			362			VWFA.		A6NN03	Missense_Mutation	SNP	ENST00000218436.6	37	c.1084G>A	CCDS14361.1	.	.	.	.	.	.	.	.	.	.	T	0.011	-1.707269	0.00719	.	.	ENSG00000102313	ENST00000218436	T	0.11169	2.8	3.77	3.77	0.43336	von Willebrand factor, type A (3);	0.068497	0.56097	N	0.000028	T	0.01627	0.0052	N	0.00085	-2.2	0.09310	N	0.999995	B	0.02656	0.0	B	0.01281	0.0	T	0.44467	-0.9326	10	0.02654	T	1	.	7.7198	0.28725	0.0:0.1088:0.0:0.8912	.	362	Q6UXX5	ITH5L_HUMAN	I	362	ENSP00000218436:V362I	ENSP00000218436:V362I	V	-	1	0	ITIH5L	54802148	1.000000	0.71417	0.631000	0.29282	0.077000	0.17291	3.674000	0.54598	0.236000	0.21180	-0.329000	0.08387	GTC		0.547	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510	
ZXDA	7789	broad.mit.edu	37	X	57936065	57936065	+	Missense_Mutation	SNP	C	C	T	rs201132004		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:57936065C>T	ENST00000358697.4	-	1	1002	c.790G>A	c.(790-792)Gtg>Atg	p.V264M		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	264					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TACAGCACCACGCCTGGACCA	0.726																																						uc004dve.2																			0				ovary(1)	1						c.(790-792)GTG>ATG		zinc finger, X-linked, duplicated A							10.0	11.0	10.0					X																	57936065		2185	4279	6464	SO:0001583	missense	7789				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:57936065C>T	L14787	CCDS14376.1	Xp11.21	2013-01-08			ENSG00000198205	ENSG00000198205		"""Zinc fingers, C2H2-type"""	13198	protein-coding gene	gene with protein product	"""zinc finger protein 896"""	300235				8268913	Standard	NM_007156		Approved	ZNF896	uc004dve.3	P98168	OTTHUMG00000021688	ENST00000358697.4:c.790G>A	X.37:g.57936065C>T	ENSP00000351530:p.Val264Met						p.V264M	NM_007156	NP_009087	P98168	ZXDA_HUMAN			1	1003	-			264					Q9UJP7	Missense_Mutation	SNP	ENST00000358697.4	37	c.790G>A	CCDS14376.1	.	.	.	.	.	.	.	.	.	.	.	4.469	0.086837	0.08583	.	.	ENSG00000198205	ENST00000358697	T	0.11063	2.81	3.35	-1.21	0.09524	.	0.945964	0.08857	N	0.883680	T	0.06050	0.0157	N	0.24115	0.695	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.44221	-0.9342	9	.	.	.	.	4.469	0.11703	0.0:0.4288:0.1672:0.4041	.	264	P98168	ZXDA_HUMAN	M	264	ENSP00000351530:V264M	.	V	-	1	0	ZXDA	57952790	0.000000	0.05858	0.100000	0.21137	0.496000	0.33645	-0.394000	0.07296	-0.414000	0.07495	0.415000	0.27848	GTG		0.726	ZXDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056925.1	NM_007156	
TAF1	6872	broad.mit.edu	37	X	70613222	70613222	+	Silent	SNP	A	A	C			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:70613222A>C	ENST00000373790.4	+	21	3171	c.3120A>C	c.(3118-3120)ggA>ggC	p.G1040G	TAF1_ENST00000276072.3_Silent_p.G1061G|TAF1_ENST00000449580.1_Silent_p.G1040G|TAF1_ENST00000423759.1_Silent_p.G1061G	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1040					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|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)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CTCGTTCTGGAGAGGGGCCCA	0.468																																						uc004dzu.3																			0				ovary(7)|breast(4)|large_intestine(2)|central_nervous_system(2)|lung(1)|skin(1)	17						c.(3118-3120)GGA>GGC		TBP-associated factor 1 isoform 2							126.0	113.0	118.0					X																	70613222		2203	4300	6503	SO:0001819	synonymous_variant	6872				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	g.chrX:70613222A>C		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3120A>C	X.37:g.70613222A>C						BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.3_Silent_p.G1061G|TAF1_uc004dzv.3_Silent_p.G214G	p.G1040G	NM_138923	NP_620278	P21675	TAF1_HUMAN			21	3171	+	Renal(35;0.156)	all_lung(315;0.000321)	1040					A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Silent	SNP	ENST00000373790.4	37	c.3120A>C	CCDS35325.1																																																																																				0.468	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
ABCB7	22	broad.mit.edu	37	X	74291376	74291376	+	Missense_Mutation	SNP	A	A	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:74291376A>T	ENST00000373394.3	-	9	1182	c.1175T>A	c.(1174-1176)aTa>aAa	p.I392K	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Missense_Mutation_p.I352K|ABCB7_ENST00000253577.3_Missense_Mutation_p.I393K			O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	392	ABC transmembrane type-1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAGCACCATTATAGCTGTTAA	0.388																																						uc004eca.2																			0				ovary(1)	1						c.(1174-1176)ATA>AAA		ATP-binding cassette, sub-family B, member 7							132.0	116.0	121.0					X																	74291376		2203	4300	6503	SO:0001583	missense	22				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity	g.chrX:74291376A>T	AF038950	CCDS14428.1, CCDS65290.1, CCDS65291.1, CCDS75994.1	Xq13.3	2012-03-14			ENSG00000131269	ENSG00000131269		"""ATP binding cassette transporters / subfamily B"""	48	protein-coding gene	gene with protein product		300135		ABC7		9143506	Standard	NM_004299		Approved	EST140535, Atm1p, ASAT	uc004ebz.4	O75027	OTTHUMG00000021862	ENST00000373394.3:c.1175T>A	X.37:g.74291376A>T	ENSP00000362492:p.Ile392Lys					ABCB7_uc004ebz.2_Missense_Mutation_p.I393K|ABCB7_uc011mqn.1_Missense_Mutation_p.I366K|ABCB7_uc010nls.2_Missense_Mutation_p.I353K|ABCB7_uc010nlt.2_Missense_Mutation_p.I352K	p.I392K	NM_004299	NP_004290	O75027	ABCB7_HUMAN			9	1200	-			392			ABC transmembrane type-1.|Helical; (Potential).		G3XAC4|O75345|Q5VWY7|Q5VWY8|Q9BRE1|Q9UND1|Q9UP01	Missense_Mutation	SNP	ENST00000373394.3	37	c.1175T>A		.	.	.	.	.	.	.	.	.	.	A	21.6	4.168548	0.78339	.	.	ENSG00000131269	ENST00000535115;ENST00000253577;ENST00000339447;ENST00000373394;ENST00000529949	D;D;D;D	0.91011	-2.77;-2.77;-2.77;-2.77	4.88	4.88	0.63580	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.047519	0.85682	D	0.000000	D	0.94716	0.8295	M	0.90145	3.09	0.80722	D	1	B;P;P;B;P	0.37276	0.035;0.534;0.589;0.14;0.534	B;P;P;B;B	0.50231	0.161;0.501;0.635;0.248;0.421	D	0.95228	0.8340	10	0.87932	D	0	-11.3591	12.769	0.57410	1.0:0.0:0.0:0.0	.	366;352;393;392;393	G3V1J3;G3XAC4;B3KM98;O75027;O75027-2	.;.;.;ABCB7_HUMAN;.	K	366;393;352;392;366	ENSP00000253577:I393K;ENSP00000343849:I352K;ENSP00000362492:I392K;ENSP00000436586:I366K	ENSP00000253577:I393K	I	-	2	0	ABCB7	74208101	1.000000	0.71417	0.345000	0.25642	0.940000	0.58332	7.183000	0.77697	1.603000	0.50134	0.486000	0.48141	ATA		0.388	ABCB7-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000057274.1	NM_004299	
RPL36A	6173	broad.mit.edu	37	X	100646453	100646453	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:100646453G>A	ENST00000553110.3	+	2	94	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	RPL36A-HNRNPH2_ENST00000409170.3_Silent_p.T14T|RPL36A_ENST00000427805.2_Missense_Mutation_p.V40I|RPL36A_ENST00000471855.1_5'UTR			P83881	RL36A_HUMAN	ribosomal protein L36a	4					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			liver(4)|lung(1)|prostate(1)	6						CTAGGTTAACGTCCCTAAAAC	0.498																																						uc004ehk.2																			0					0						c.(10-12)GTC>ATC		ribosomal protein L36a							175.0	168.0	170.0					X																	100646453		2203	4300	6503	SO:0001583	missense	6173				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome	g.chrX:100646453G>A	BC001781	CCDS14483.1, CCDS14483.2	Xq22.1	2011-04-06	2002-01-15	2002-01-18	ENSG00000241343	ENSG00000241343		"""L ribosomal proteins"""	10359	protein-coding gene	gene with protein product		300902	"""ribosomal protein L44"""	RPL44		3461443	Standard	NM_021029		Approved	L36A		P83881	OTTHUMG00000022027	ENST00000553110.3:c.10G>A	X.37:g.100646453G>A	ENSP00000446503:p.Val4Ile					BTK_uc010nno.2_5'Flank|RPL36A_uc004ehj.1_Missense_Mutation_p.V4I	p.V4I	NM_021029	NP_066357	P83881	RL36A_HUMAN			2	94	+			4					P09896|P10661|Q08ES5|Q5J9I6	Missense_Mutation	SNP	ENST00000553110.3	37	c.10G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.044636|2.044636	0.36085|0.36085	.|.	.|.	ENSG00000241343|ENSG00000241343;ENSG00000241343;ENSG00000257529	ENST00000392994|ENST00000427805;ENST00000553110;ENST00000409338	.|T;T;T	.|0.42513	.|0.97;0.97;0.97	5.71|5.71	3.9|3.9	0.45041|0.45041	.|Ribosomal protein, zinc-binding domain (1);	.|0.000000	.|0.53938	.|U	.|0.000055	T|T	0.26231|0.26231	0.0640|0.0640	N|N	0.20357|0.20357	0.565|0.565	0.33870|0.33870	D|D	0.63488|0.63488	.|B;B	.|0.14012	.|0.009;0.007	.|B;B	.|0.11329	.|0.002;0.006	T|T	0.27262|0.27262	-1.0079|-1.0079	5|10	.|0.24483	.|T	.|0.36	-41.7232|-41.7232	10.45|10.45	0.44516|0.44516	0.0718:0.0:0.7956:0.1326|0.0718:0.0:0.7956:0.1326	.|.	.|4;4	.|P83881;B2REA7	.|RL36A_HUMAN;.	H|I	22|40;4;15	.|ENSP00000404375:V40I;ENSP00000446503:V4I;ENSP00000386974:V15I	.|ENSP00000386974:V15I	R|V	+|+	2|1	0|0	RPL36A|RPL36A;RP1-164F3.9	100533109|100533109	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.436000|0.436000	0.31835|0.31835	6.249000|6.249000	0.72427|0.72427	1.162000|1.162000	0.42619|0.42619	0.468000|0.468000	0.43344|0.43344	CGT|GTC		0.498	RPL36A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_021029	
KIAA1210	57481	broad.mit.edu	37	X	118238988	118238988	+	Missense_Mutation	SNP	C	C	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:118238988C>A	ENST00000402510.2	-	7	1034	c.1035G>T	c.(1033-1035)aaG>aaT	p.K345N		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	345										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTGGTAAAGCCTTCTTTTGTG	0.418																																						uc004era.3																			0				ovary(4)|skin(1)	5						c.(1033-1035)AAG>AAT		hypothetical protein LOC57481							158.0	151.0	154.0					X																	118238988		1906	4124	6030	SO:0001583	missense	57481							g.chrX:118238988C>A	AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.1035G>T	X.37:g.118238988C>A	ENSP00000384670:p.Lys345Asn						p.K345N	NM_020721	NP_065772	Q9ULL0	K1210_HUMAN			7	1035	-			345					B7ZCI8|Q5JPN4	Missense_Mutation	SNP	ENST00000402510.2	37	c.1035G>T	CCDS48156.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339376	0.24339	.	.	ENSG00000250423;ENSG00000241087	ENST00000402510;ENST00000420240	T	0.10763	2.84	4.14	2.33	0.28932	.	.	.	.	.	T	0.11281	0.0275	N	0.08118	0	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.24119	-1.0169	9	0.33940	T	0.23	.	4.9884	0.14202	0.0:0.72:0.0:0.28	.	345	Q9ULL0	K1210_HUMAN	N	345;181	ENSP00000384670:K345N	ENSP00000396164:K181N	K	-	3	2	RP13-347D8.5;RP13-347D8.6	118123016	0.000000	0.05858	0.013000	0.15412	0.106000	0.19336	-0.071000	0.11505	0.840000	0.34995	0.506000	0.49869	AAG		0.418	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371251.2	NM_020721	
FRMD7	90167	broad.mit.edu	37	X	131219611	131219611	+	Missense_Mutation	SNP	G	G	A			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:131219611G>A	ENST00000298542.4	-	7	818	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	FRMD7_ENST00000370879.1_Missense_Mutation_p.R95W|FRMD7_ENST00000464296.1_Missense_Mutation_p.R200W	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	215	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				regulation of neuron projection development (GO:0010975)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GATTTTACCCGTAACACCAGT	0.512																																						uc004ewn.2																			0				skin(1)	1						c.(643-645)CGG>TGG		FERM domain containing 7							153.0	133.0	140.0					X																	131219611		2203	4300	6503	SO:0001583	missense	90167				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding	g.chrX:131219611G>A	AL161984	CCDS35397.1	Xq26.2	2014-09-17	2006-09-01	2006-09-01	ENSG00000165694	ENSG00000165694			8079	protein-coding gene	gene with protein product		300628	"""nystagmus 1, congenital"""	NYS, NYS1		2063919, 17013395	Standard	NM_194277		Approved	FLJ43346	uc004ewn.3	Q6ZUT3	OTTHUMG00000022421	ENST00000298542.4:c.643C>T	X.37:g.131219611G>A	ENSP00000298542:p.Arg215Trp					FRMD7_uc011muy.1_Missense_Mutation_p.R200W	p.R215W	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN			7	821	-	Acute lymphoblastic leukemia(192;0.000127)		215			FERM.		C0LLJ3|Q5JX99	Missense_Mutation	SNP	ENST00000298542.4	37	c.643C>T	CCDS35397.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.202471	0.79127	.	.	ENSG00000165694	ENST00000370879;ENST00000298542;ENST00000464296	D;D;D	0.82711	-1.64;-1.64;-1.64	5.71	4.84	0.62591	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.119091	0.56097	N	0.000025	D	0.89581	0.6756	M	0.71871	2.18	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.81914	0.991;0.995	D	0.90081	0.4170	10	0.87932	D	0	.	12.2995	0.54866	0.0:0.0:0.6946:0.3054	.	200;215	Q6ZUT3-2;Q6ZUT3	.;FRMD7_HUMAN	W	95;215;200	ENSP00000359916:R95W;ENSP00000298542:R215W;ENSP00000417996:R200W	ENSP00000298542:R215W	R	-	1	2	FRMD7	131047292	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	5.590000	0.67530	1.156000	0.42514	0.600000	0.82982	CGG		0.512	FRMD7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355031.1	NM_194277	
ATP2B3	492	broad.mit.edu	37	X	152818620	152818620	+	Missense_Mutation	SNP	C	C	T			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:152818620C>T	ENST00000349466.2	+	12	2277	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	ATP2B3_ENST00000393842.1_Missense_Mutation_p.R637W|ATP2B3_ENST00000359149.3_Missense_Mutation_p.R651W|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R651W|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R637W|ATP2B3_ENST00000370186.1_Missense_Mutation_p.R637W			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	651					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCGCCTACCGGGACTTCTC	0.632																																						uc004fht.1																			0				pancreas(1)	1						c.(1951-1953)CGG>TGG		plasma membrane calcium ATPase 3 isoform 3b							90.0	64.0	73.0					X																	152818620		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152818620C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.1951C>T	X.37:g.152818620C>T	ENSP00000343886:p.Arg651Trp					ATP2B3_uc004fhs.1_Missense_Mutation_p.R651W	p.R651W	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			11	2077	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		651			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.1951C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.656321	0.67586	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87;-4.87;-4.87	5.44	4.55	0.56014	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.000000	0.85682	D	0.000000	D	0.99309	0.9758	H	0.97415	4	0.51767	D	0.99993	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.98561	1.0641	10	0.87932	D	0	-27.5555	13.1919	0.59715	0.1647:0.8353:0.0:0.0	.	651;651	Q16720;Q16720-2	AT2B3_HUMAN;.	W	637;651;637;651;651;637	ENSP00000359205:R637W;ENSP00000343886:R651W;ENSP00000377425:R637W;ENSP00000352062:R651W;ENSP00000263519:R651W;ENSP00000359200:R637W	ENSP00000263519:R651W	R	+	1	2	ATP2B3	152471814	1.000000	0.71417	0.998000	0.56505	0.671000	0.39405	1.297000	0.33400	1.002000	0.39104	0.600000	0.82982	CGG		0.632	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949	
