#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
HNRNPCL1	343069	broad.mit.edu	37	1	12908039	12908039	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:12908039G>A	ENST00000317869.6	-	2	329	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1	O60812	HNRC1_HUMAN	heterogeneous nuclear ribonucleoprotein C-like 1	35	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GGAAAAGATCGCCTCCACATC	0.473																																						uc010obf.2																			0											c.(103-105)gCg>gTg		Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.							171.0	158.0	163.0					1																	12908039		2203	4300	6503	SO:0001583	missense	649330						nucleic acid binding|nucleotide binding	g.chr1:12908039G>A	BC002696	CCDS30591.1	1p36.21	2013-02-12		2008-04-18	ENSG00000179172	ENSG00000179172		"""RNA binding motif (RRM) containing"""	29295	protein-coding gene	gene with protein product				HNRPCL1			Standard	NM_001013631		Approved			O60812	OTTHUMG00000001931	ENST00000317869.6:c.104C>T	1.37:g.12908039G>A	ENSP00000365370:p.Ala35Val					LOC649330_uc009vno.2_Missense_Mutation_p.A35V	p.A35V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN			1	330	-			35					B2RP44	Missense_Mutation	SNP	ENST00000317869.6	37	c.104C>T	CCDS30591.1	.	.	.	.	.	.	.	.	.	.	g	13.89	2.370748	0.42003	.	.	ENSG00000179172	ENST00000317869	T	0.17054	2.3	1.09	-1.27	0.09347	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.132742	0.49305	N	0.000153	T	0.09024	0.0223	L	0.34521	1.04	0.32473	N	0.542534	P	0.44195	0.828	B	0.37780	0.258	T	0.29212	-1.0019	10	0.33940	T	0.23	.	5.3693	0.16131	0.39:0.0:0.61:0.0	.	35	O60812	HNRCL_HUMAN	V	35	ENSP00000365370:A35V	ENSP00000365370:A35V	A	-	2	0	HNRNPCL1	12830626	1.000000	0.71417	0.004000	0.12327	0.045000	0.14185	4.843000	0.62838	-0.384000	0.07845	-0.505000	0.04504	GCG		0.473	HNRNPCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005462.1	NM_001013631	
MST1L	11223	broad.mit.edu	37	1	17084548	17084549	+	RNA	INS	-	-	CCAA			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:17084548_17084549insCCAA	ENST00000455405.2	-	0	340_341							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GAACAGGGTGCCCAACCATACC	0.579																																						uc010ock.2																			0				breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						c.(1549-1551)ggcfs		Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.																																						11223							g.chr1:17084548_17084549insCCAA	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.17084549_17084552dupCCAA						CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_Frame_Shift_Ins_p.G117fs	p.G517fs							11	1549_1550	-								B7WPB1|Q13209	Frame_Shift_Ins	INS	ENST00000455405.2	37	c.1549_1550insTTGG																																																																																					0.579	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733	
CSMD2	114784	broad.mit.edu	37	1	34123559	34123559	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:34123559C>T	ENST00000373380.1	-	6	1273	c.1053G>A	c.(1051-1053)ccG>ccA	p.P351P	CSMD2_ENST00000373381.4_Silent_p.P1478P|CSMD2_ENST00000373388.2_5'UTR			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1438	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCATGTTGGCGGGCTGGGCT	0.572																																						uc001bxm.1																			0				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246						c.(4432-4434)ccG>ccA		Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.							103.0	97.0	99.0					1																	34123559		2203	4300	6503	SO:0001819	synonymous_variant	114784					integral to membrane|plasma membrane	protein binding	g.chr1:34123559C>T	AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.1053G>A	1.37:g.34123559C>T						CSMD2_uc001bxn.1_Silent_p.P1438P|CSMD2_uc001bxo.1_Silent_p.P351P	p.P1478P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN			26	4611	-		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)	1438			CUB 9.		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Silent	SNP	ENST00000373380.1	37	c.4434G>A																																																																																					0.572	CSMD2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000030635.4	NM_052896	
TIE1	7075	broad.mit.edu	37	1	43774798	43774798	+	Missense_Mutation	SNP	T	T	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:43774798T>A	ENST00000372476.3	+	8	1263	c.1184T>A	c.(1183-1185)cTc>cAc	p.L395H	TIE1_ENST00000441333.2_Intron|TIE1_ENST00000433781.2_Missense_Mutation_p.L40H	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	395	Ig-like C2-type 2.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCACTGTGCTCCTGGTCAGC	0.617																																						uc001ciu.3																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70						c.(1183-1185)cTc>cAc		Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.							41.0	44.0	43.0					1																	43774798		2203	4300	6503	SO:0001583	missense	7075				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:43774798T>A	BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.1184T>A	1.37:g.43774798T>A	ENSP00000361554:p.Leu395His					TIE1_uc010okd.2_Missense_Mutation_p.L395H|TIE1_uc010oke.2_Missense_Mutation_p.L350H|TIE1_uc009vwq.3_Missense_Mutation_p.L351H|TIE1_uc010okf.1_Missense_Mutation_p.L40H|TIE1_uc010okg.2_Missense_Mutation_p.L40H|TIE1_uc010okc.2_Intron	p.L395H	NM_005424	NP_005415	P35590	TIE1_HUMAN			7	1361	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)	395			Ig-like C2-type 2.		B5A949|B5A950	Missense_Mutation	SNP	ENST00000372476.3	37	c.1184T>A	CCDS482.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.646909	0.87958	.	.	ENSG00000066056	ENST00000372476;ENST00000433781	T;T	0.42900	2.24;0.96	5.13	5.13	0.70059	Immunoglobulin-like fold (1);	0.215542	0.23409	N	0.048481	T	0.63546	0.2520	M	0.72894	2.215	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.999;0.993;0.997;1.0	D;D;D;P;D	0.72075	0.912;0.947;0.916;0.819;0.976	T	0.67917	-0.5546	10	0.87932	D	0	.	14.9642	0.71179	0.0:0.0:0.0:1.0	.	40;350;395;40;395	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	H	395;40	ENSP00000361554:L395H;ENSP00000411728:L40H	ENSP00000361554:L395H	L	+	2	0	TIE1	43547385	1.000000	0.71417	0.614000	0.29051	0.984000	0.73092	7.662000	0.83803	1.941000	0.56285	0.460000	0.39030	CTC		0.617	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019011.1	NM_005424	
C8A	731	broad.mit.edu	37	1	57341829	57341829	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:57341829C>T	ENST00000361249.3	+	4	507	c.411C>T	c.(409-411)gaC>gaT	p.D137D		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	137	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGGCCATTGACGAAGACTGCA	0.532																																						uc001cyo.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(409-411)gaC>gaT		Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.							137.0	119.0	125.0					1																	57341829		2203	4300	6503	SO:0001819	synonymous_variant	731				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		g.chr1:57341829C>T	M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.411C>T	1.37:g.57341829C>T							p.D137D	NM_000562	NP_000553	P07357	CO8A_HUMAN			3	543	+			137			MACPF.		A2RUI4|A2RUI5|Q13668|Q9H130	Silent	SNP	ENST00000361249.3	37	c.411C>T	CCDS606.1																																																																																				0.532	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562	
FLG	2312	broad.mit.edu	37	1	152275685	152275685	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:152275685C>A	ENST00000368799.1	-	3	11712	c.11677G>T	c.(11677-11679)Gag>Tag	p.E3893*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3893	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)			CTTGACTGCTCCCGAGAAGAT	0.537									Ichthyosis																													uc001ezu.1																			0		p.R3892L(1)|p.R3892Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11677-11679)Gag>Tag		Homo sapiens filaggrin (FLG), mRNA.							96.0	99.0	98.0					1																	152275685		2203	4300	6503	SO:0001587	stop_gained	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.chr1:152275685C>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11677G>T	1.37:g.152275685C>A	ENSP00000357789:p.Glu3893*						p.E3893*	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	11713	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3893			Ser-rich.		Q01720|Q5T583|Q9UC71	Nonsense_Mutation	SNP	ENST00000368799.1	37	c.11677G>T	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	50	16.968189	0.99876	.	.	ENSG00000143631	ENST00000368799	.	.	.	2.17	1.2	0.21068	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	5.9242	0.19099	0.3106:0.6894:0.0:0.0	.	.	.	.	X	3893	.	ENSP00000357789:E3893X	E	-	1	0	FLG	150542309	0.906000	0.30813	0.000000	0.03702	0.000000	0.00434	0.628000	0.24522	0.452000	0.26830	-0.330000	0.08379	GAG		0.537	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
CD1D	912	broad.mit.edu	37	1	158153826	158153826	+	Splice_Site	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:158153826G>A	ENST00000368171.3	+	6	1485		c.e6+1			NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule						antigen processing and presentation, endogenous lipid antigen via MHC class Ib (GO:0048006)|detection of bacterium (GO:0016045)|heterotypic cell-cell adhesion (GO:0034113)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of T cell proliferation (GO:0042102)|T cell selection (GO:0045058)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)	beta-2-microglobulin binding (GO:0030881)|cell adhesion molecule binding (GO:0050839)|exogenous lipid antigen binding (GO:0030884)|histone binding (GO:0042393)|lipid antigen binding (GO:0030882)|receptor activity (GO:0004872)	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGAGGCAAACGTAAGTCTCCC	0.512																																						uc001frr.3																			1	Unknown(1)	p.?(1)	prostate(1)	endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30						c.e6+1		Homo sapiens CD1d molecule (CD1D), mRNA.							340.0	309.0	320.0					1																	158153826		2203	4300	6503	SO:0001630	splice_region_variant	912				antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	g.chr1:158153826G>A	BC027926	CCDS1173.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158473	ENSG00000158473		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1637	protein-coding gene	gene with protein product		188410	"""CD1D antigen, d polypeptide"", ""CD1d antigen"""			2463622	Standard	NM_001766		Approved		uc001frr.3	P15813	OTTHUMG00000022436	ENST00000368171.3:c.986+1G>A	1.37:g.158153826G>A						CD1D_uc009wss.3_Splice_Site_p.T236_splice	p.T329_splice	NM_001766	NP_001757	P15813	CD1D_HUMAN			6	1485	+	all_hematologic(112;0.0378)		329					D3DVD5|Q5W0J3|Q9UMM3|Q9Y5M4	Splice_Site	SNP	ENST00000368171.3	37	c.986_splice	CCDS1173.1	.	.	.	.	.	.	.	.	.	.	G	10.78	1.447165	0.25987	.	.	ENSG00000158473	ENST00000368171	.	.	.	3.87	3.87	0.44632	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6401	0.51228	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CD1D	156420450	0.982000	0.34865	0.257000	0.24404	0.009000	0.06853	2.797000	0.47877	2.450000	0.82876	0.650000	0.86243	.		0.512	CD1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058340.1	NM_001766	Intron
SH3BP5L	80851	broad.mit.edu	37	1	249106332	249106332	+	Nonsense_Mutation	SNP	C	C	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:249106332C>A	ENST00000366472.5	-	7	2178	c.949G>T	c.(949-951)Gag>Tag	p.E317*	SH3BP5L_ENST00000411742.2_Nonsense_Mutation_p.E285*|SH3BP5L_ENST00000475978.1_5'UTR	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	317										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTGCCCTCCTCCAGCCCCGCA	0.731																																						uc001iew.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						c.(949-951)Gag>Tag		Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.							14.0	19.0	17.0					1																	249106332		2197	4284	6481	SO:0001587	stop_gained	80851							g.chr1:249106332C>A	AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.949G>T	1.37:g.249106332C>A	ENSP00000355428:p.Glu317*					SH3BP5L_uc010pzp.1_Nonsense_Mutation_p.E210*|SH3BP5L_uc001iev.1_Nonsense_Mutation_p.E198*	p.E317*	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00805)		6	1501	-	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	317					B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Nonsense_Mutation	SNP	ENST00000366472.5	37	c.949G>T	CCDS31126.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364133	0.82353	.	.	ENSG00000175137	ENST00000366472;ENST00000411742	.	.	.	4.38	4.38	0.52667	.	0.161257	0.42053	D	0.000775	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.18710	T	0.47	-21.815	12.6392	0.56700	0.0:1.0:0.0:0.0	.	.	.	.	X	317;285	.	ENSP00000355428:E317X	E	-	1	0	SH3BP5L	247072955	0.099000	0.21834	0.959000	0.39883	0.546000	0.35178	1.854000	0.39368	2.434000	0.82447	0.313000	0.20887	GAG		0.731	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645	
AGAP7P	653268	broad.mit.edu	37	10	51465417	51465417	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr10:51465417C>T	ENST00000374095.5	-	7	1164	c.1039G>A	c.(1039-1041)Ggg>Agg	p.G347R		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		347	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)	p.G347W(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TCACCCAGCCCGGTGTCCATG	0.552																																						uc001jio.3																			1	Substitution - Missense(1)	p.G347W(2)	lung(1)	kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						c.(1039-1041)Ggg>Agg		Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.							95.0	114.0	108.0					10																	51465417		2202	4296	6498	SO:0001583	missense	653268				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	g.chr10:51465417C>T																												ENST00000374095.5:c.1039G>A	10.37:g.51465417C>T	ENSP00000363208:p.Gly347Arg					PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron	p.G347R	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN			6	1165	-			347			PH.		A6NGH4	Missense_Mutation	SNP	ENST00000374095.5	37	c.1039G>A	CCDS41524.1	.	.	.	.	.	.	.	.	.	.	.	10.92	1.485747	0.26686	.	.	ENSG00000204169	ENST00000374095	T	0.53640	0.61	.	.	.	Pleckstrin homology domain (3);	0.541810	0.18611	N	0.136146	T	0.50548	0.1622	L	0.55834	1.745	0.44762	D	0.997763	P	0.51449	0.945	P	0.55055	0.767	T	0.47935	-0.9078	9	0.66056	D	0.02	.	5.9763	0.19382	0.0:0.9994:0.0:6.0E-4	.	347	Q5VUJ5	AGAP7_HUMAN	R	347	ENSP00000363208:G347R	ENSP00000363208:G347R	G	-	1	0	AGAP7	51135423	0.000000	0.05858	0.108000	0.21378	0.110000	0.19582	-0.664000	0.05292	0.172000	0.19760	0.175000	0.17021	GGG		0.552	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048033.1		
HPSE2	60495	broad.mit.edu	37	10	100249842	100249842	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr10:100249842G>A	ENST00000370552.3	-	10	1491	c.1432C>T	c.(1432-1434)Cta>Tta	p.L478L	HPSE2_ENST00000370546.1_Silent_p.L478L|HPSE2_ENST00000404542.1_Silent_p.L366L|HPSE2_ENST00000370549.1_Silent_p.L420L	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	478					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TAAATCCTTAGTTTGTCCCGG	0.577																																						uc001kpn.2																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40						c.(1432-1434)Cta>Tta		Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.							130.0	122.0	125.0					10																	100249842		2203	4300	6503	SO:0001819	synonymous_variant	60495				carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity	g.chr10:100249842G>A	AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.1432C>T	10.37:g.100249842G>A						HPSE2_uc009xwc.2_Silent_p.L478L|HPSE2_uc001kpo.2_Silent_p.L420L|HPSE2_uc009xwd.2_Silent_p.L366L	p.L478L	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN		Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)	9	1505	-			478					Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Silent	SNP	ENST00000370552.3	37	c.1432C>T	CCDS7477.1																																																																																				0.577	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049789.1	NM_021828	
AP2A2	161	broad.mit.edu	37	11	926039	926039	+	Frame_Shift_Del	DEL	G	G	-			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:926039delG	ENST00000448903.2	+	1	159	c.18delG	c.(16-18)aagfs	p.K6fs	AP2A2_ENST00000332231.5_Frame_Shift_Del_p.K6fs|AP2A2_ENST00000534328.1_Frame_Shift_Del_p.K6fs	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	6	Lipid-binding.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|protein kinase binding (GO:0019901)|protein transporter activity (GO:0008565)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCGTGTCCAAGGGGGACGGGA	0.771																																						uc001lst.2																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21						c.(16-18)aagfs		Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.							3.0	4.0	4.0					11																	926039		1572	3696	5268	SO:0001589	frameshift_variant	161				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity	g.chr11:926039delG	AB020706	CCDS44512.1, CCDS73234.1	11p15.5	2008-07-18			ENSG00000183020	ENSG00000183020			562	protein-coding gene	gene with protein product	"""alpha-adaptin C; Huntingtin interacting protein J"", ""adaptin, alpha B"", ""clathrin-associated/assembly/adaptor protein, large, alpha 2"""	607242		CLAPA2, ADTAB		9700202, 2564002	Standard	NM_012305		Approved	DKFZP564D1864, HYPJ, KIAA0899, HIP9	uc001lst.2	O94973	OTTHUMG00000165627	ENST00000448903.2:c.18delG	11.37:g.926039delG	ENSP00000413234:p.Lys6fs					AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Frame_Shift_Del_p.K6fs	p.K6fs	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)	0	231	+		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	6			Lipid-binding.		O75403|Q53ET1|Q96SI8	Frame_Shift_Del	DEL	ENST00000448903.2	37	c.18delG	CCDS44512.1																																																																																				0.771	AP2A2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385431.2	NM_012305	
MUC6	4588	broad.mit.edu	37	11	1025025	1025025	+	Missense_Mutation	SNP	G	G	A	rs367909154		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:1025025G>A	ENST00000421673.2	-	24	3094	c.3044C>T	c.(3043-3045)aCg>aTg	p.T1015M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1015	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGCTGCGCGTCTCGAAGTC	0.637																																						uc001lsw.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3043-3045)aCg>aTg		Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.		G	MET/THR	1,4253		0,1,2126	48.0	55.0	52.0		3044	3.8	0.4	11		52	0,8446		0,0,4223	no	missense	MUC6	NM_005961.2	81	0,1,6349	AA,AG,GG		0.0,0.0235,0.0079	probably-damaging	1015/2440	1025025	1,12699	2127	4223	6350	SO:0001583	missense	4588				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent	g.chr11:1025025G>A	U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.3044C>T	11.37:g.1025025G>A	ENSP00000406861:p.Thr1015Met						p.T1015M	NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	23	3095	-		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	1015			VWFD 3.		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	c.3044C>T	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878134	0.33162	2.35E-4	0.0	ENSG00000184956	ENST00000421673	T	0.63580	-0.05	3.78	3.78	0.43462	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.79131	0.4394	M	0.79123	2.44	0.40365	D	0.979282	D	0.89917	1.0	D	0.97110	1.0	D	0.83824	0.0248	9	0.87932	D	0	.	16.1883	0.81967	0.0:0.0:1.0:0.0	.	1015	Q6W4X9	MUC6_HUMAN	M	1015	ENSP00000406861:T1015M	ENSP00000406861:T1015M	T	-	2	0	MUC6	1015025	1.000000	0.71417	0.370000	0.25965	0.107000	0.19398	6.513000	0.73742	2.124000	0.65301	0.561000	0.74099	ACG		0.637	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
NAV2	89797	broad.mit.edu	37	11	19955730	19955730	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:19955730C>T	ENST00000396087.3	+	8	2108	c.2009C>T	c.(2008-2010)aCc>aTc	p.T670I	NAV2_ENST00000349880.4_Missense_Mutation_p.T647I|NAV2_ENST00000527559.2_Missense_Mutation_p.T599I|NAV2_ENST00000540292.1_Missense_Mutation_p.T601I|NAV2_ENST00000396085.1_Missense_Mutation_p.T647I|NAV2_ENST00000360655.4_Missense_Mutation_p.T583I	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	670					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCACCCAGACCACAGGAAGC	0.582																																						uc010rdm.2																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(2008-2010)aCc>aTc		Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.							105.0	103.0	104.0					11																	19955730		2199	4293	6492	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19955730C>T	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2009C>T	11.37:g.19955730C>T	ENSP00000379396:p.Thr670Ile					NAV2_uc001mpp.3_Missense_Mutation_p.T583I|NAV2_uc001mpr.4_Missense_Mutation_p.T647I|NAV2_uc021qew.1_Missense_Mutation_p.T647I	p.T670I	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN			7	2370	+			670					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.2009C>T	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	15.71	2.913338	0.52439	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49;2.49	5.52	4.6	0.57074	.	0.183165	0.38492	N	0.001661	T	0.17450	0.0419	L	0.40543	1.245	0.80722	D	1	B;P	0.38440	0.127;0.631	B;P	0.45167	0.398;0.472	T	0.02877	-1.1099	9	.	.	.	.	14.4082	0.67096	0.0:0.7008:0.2992:0.0	.	647;583	Q8IVL1-3;Q8IVL1-4	.;.	I	583;647;647;670;599;601	ENSP00000353871:T583I;ENSP00000379394:T647I;ENSP00000309577:T647I;ENSP00000379396:T670I;ENSP00000435395:T599I;ENSP00000443489:T601I	.	T	+	2	0	NAV2	19912306	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.832000	0.48152	1.312000	0.45043	0.563000	0.77884	ACC		0.582	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117	
CHRDL2	25884	broad.mit.edu	37	11	74429781	74429781	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:74429781C>T	ENST00000376332.3	-	2	675	c.179G>A	c.(178-180)cGc>cAc	p.R60H	CHRDL2_ENST00000263671.5_Missense_Mutation_p.R60H|SNORD43_ENST00000390975.1_RNA|CHRDL2_ENST00000534159.1_5'UTR|MIR4696_ENST00000581431.1_RNA	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	60	VWFC 1. {ECO:0000255|PROSITE- ProRule:PRU00220}.				cartilage development (GO:0051216)|cell differentiation (GO:0030154)|ossification (GO:0001503)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GCAGGTACAGCGCAGGCAGTA	0.597																																						uc001ovh.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15						c.(178-180)cGc>cAc		Homo sapiens chordin-like 2 (CHRDL2), mRNA.							76.0	58.0	64.0					11																	74429781		2200	4293	6493	SO:0001583	missense	25884				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion		g.chr11:74429781C>T	AL110168	CCDS8234.1, CCDS60893.1	11q13.4	2013-09-20			ENSG00000054938	ENSG00000054938			24168	protein-coding gene	gene with protein product		613127				12853144, 12975309	Standard	NM_015424		Approved	BNF1	uc001ovh.3	Q6WN34	OTTHUMG00000165623	ENST00000376332.3:c.179G>A	11.37:g.74429781C>T	ENSP00000365510:p.Arg60His					CHRDL2_uc001ovg.3_5'UTR|CHRDL2_uc001ovi.3_Missense_Mutation_p.R60H|CHRDL2_uc001ovk.1_Missense_Mutation_p.R60H	p.R60H	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN			1	432	-	Hepatocellular(1;0.098)		60			VWFC 1.		A5PKU9|Q6WN30|Q6WN31|Q6WN32|Q7Z5J3	Missense_Mutation	SNP	ENST00000376332.3	37	c.179G>A		.	.	.	.	.	.	.	.	.	.	C	25.7	4.668203	0.88348	.	.	ENSG00000054938	ENST00000263671;ENST00000376332;ENST00000528789	T;T;T	0.72051	-0.62;-0.62;-0.62	5.47	5.47	0.80525	von Willebrand factor, type C (4);	0.000000	0.85682	D	0.000000	T	0.79197	0.4405	L	0.44542	1.39	0.58432	D	0.99999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.999	T	0.76836	-0.2812	10	0.35671	T	0.21	-37.3626	16.8041	0.85621	0.0:1.0:0.0:0.0	.	60;60;60	E9PCG7;Q6WN34;Q6WN34-2	.;CRDL2_HUMAN;.	H	60	ENSP00000263671:R60H;ENSP00000365510:R60H;ENSP00000431380:R60H	ENSP00000263671:R60H	R	-	2	0	CHRDL2	74107429	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	3.751000	0.55165	2.572000	0.86782	0.561000	0.74099	CGC		0.597	CHRDL2-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000385391.1		
PIK3C2G	5288	broad.mit.edu	37	12	18658397	18658397	+	Splice_Site	SNP	T	T	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:18658397T>C	ENST00000266497.5	+	22	3238		c.e22+2		PIK3C2G_ENST00000433979.1_Splice_Site|PIK3C2G_ENST00000538779.1_Splice_Site			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma						chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|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)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GATAAAAAGGTCAGTGCACAA	0.368																																						uc001rdt.3																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.e23+2		Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.							58.0	52.0	54.0					12																	18658397		1869	4113	5982	SO:0001630	splice_region_variant	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18658397T>C	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3200+2T>C	12.37:g.18658397T>C						PIK3C2G_uc010sia.2_Splice_Site|PIK3C2G_uc010sib.2_Splice_Site_p.R1108_splice|PIK3C2G_uc010sic.2_Splice_Site_p.R886_splice	p.R1067_splice	NM_004570	NP_004561	O75747	P3C2G_HUMAN			23	3316	+		Hepatocellular(102;0.194)	1067			PI3K/PI4K.		A1L3U0	Splice_Site	SNP	ENST00000266497.5	37	c.3200_splice	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	T	19.55	3.849464	0.71603	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	.	.	.	5.0	5.0	0.66597	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3583	0.66752	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIK3C2G	18549664	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.556000	0.60775	2.237000	0.73441	0.528000	0.53228	.		0.368	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570	Intron
KRT6B	3854	broad.mit.edu	37	12	52841112	52841112	+	Silent	SNP	A	A	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:52841112A>G	ENST00000252252.3	-	9	1604	c.1557T>C	c.(1555-1557)agT>agC	p.S519S		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	519	Tail.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CGCCAAGACCACTGCCATAGG	0.622																																						uc001sak.3																			0				NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40						c.(1555-1557)agT>agC		Homo sapiens keratin 6B (KRT6B), mRNA.							64.0	65.0	65.0					12																	52841112		2203	4300	6503	SO:0001819	synonymous_variant	3854				ectoderm development	keratin filament	structural constituent of cytoskeleton	g.chr12:52841112A>G	BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.1557T>C	12.37:g.52841112A>G							p.S519S	NM_005555	NP_005546	P04259	K2C6B_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.083)	8	1605	-			519			Tail.		P48669	Silent	SNP	ENST00000252252.3	37	c.1557T>C	CCDS8828.1																																																																																				0.622	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404969.1	NM_005555	
GPR182	11318	broad.mit.edu	37	12	57389618	57389618	+	Nonsense_Mutation	SNP	G	G	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:57389618G>T	ENST00000300098.1	+	2	844	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	RP11-474N8.5_ENST00000556850.1_RNA|HBCBP_ENST00000600202.1_5'Flank	NM_007264.3	NP_009195.1	O15218	GP182_HUMAN	G protein-coupled receptor 182	209					cell surface receptor signaling pathway (GO:0007166)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GGCACCTTTTGAAACGTACAG	0.617																																						uc021qzf.1																			0				endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						c.(625-627)Gaa>Taa		Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.							34.0	29.0	31.0					12																	57389618		2203	4300	6503	SO:0001587	stop_gained	11318					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr12:57389618G>T	Y13583	CCDS8927.1	12q13.3	2012-08-21	2007-09-24	2007-09-24		ENSG00000166856		"""GPCR / Class A : Orphans"""	13708	protein-coding gene	gene with protein product		605307	"""adrenomedullin receptor"""	ADMR		9367907, 9535752	Standard	NM_007264		Approved	hrhAMR, G10D, AM-R	uc001smk.3	O15218		ENST00000300098.1:c.625G>T	12.37:g.57389618G>T	ENSP00000300098:p.Glu209*					GPR182_uc001smk.3_Nonsense_Mutation_p.E209*	p.E209*	NM_007264	NP_009195	O15218	GP182_HUMAN			0	625	+			209						Nonsense_Mutation	SNP	ENST00000300098.1	37	c.625G>T	CCDS8927.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.507632	0.85282	.	.	ENSG00000166856	ENST00000300098	.	.	.	3.74	3.74	0.42951	.	0.337620	0.26899	N	0.021935	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	13.3932	0.60834	0.0:0.0:1.0:0.0	.	.	.	.	X	209	.	ENSP00000300098:E209X	E	+	1	0	GPR182	55675885	1.000000	0.71417	0.123000	0.21794	0.463000	0.32649	2.363000	0.44178	2.077000	0.62373	0.561000	0.74099	GAA		0.617	GPR182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411212.1	NM_007264	
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:57485446T>C	ENST00000300131.3	+	2	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L	NAB2_ENST00000554718.1_3'UTR|NAB2_ENST00000357680.4_Missense_Mutation_p.F208L|NAB2_ENST00000342556.6_Missense_Mutation_p.F208L	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	208					cell proliferation (GO:0008283)|endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription from RNA polymerase III promoter (GO:0016480)|nervous system development (GO:0007399)|regulation of epidermis development (GO:0045682)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)	p.F208L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716																																						uc001smz.3																			1	Substitution - Missense(1)	p.F208L(2)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(622-624)Ttc>Ctc		Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.							12.0	17.0	15.0					12																	57485446		2196	4277	6473	SO:0001583	missense	4665				cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	g.chr12:57485446T>C	BC065931	CCDS8930.1	12q13.3	2008-05-14				ENSG00000166886			7627	protein-coding gene	gene with protein product		602381				8668170, 8649813	Standard	XM_005268894		Approved	MADER	uc001smz.3	Q15742		ENST00000300131.3:c.622T>C	12.37:g.57485446T>C	ENSP00000300131:p.Phe208Leu						p.F208L	NM_005967	NP_005958	Q15742	NAB2_HUMAN			1	1000	+			208					B2RAK3|O76006|Q14797	Missense_Mutation	SNP	ENST00000300131.3	37	c.622T>C	CCDS8930.1	.	.	.	.	.	.	.	.	.	.	T	10.87	1.473597	0.26423	.	.	ENSG00000166886	ENST00000300131;ENST00000342556;ENST00000357680	.	.	.	4.15	4.15	0.48705	NAB co-repressor, domain (1);	0.441905	0.22768	N	0.055868	T	0.21801	0.0525	N	0.11427	0.14	0.33270	D	0.560932	P	0.43826	0.818	B	0.41466	0.358	T	0.14392	-1.0474	9	0.10902	T	0.67	-12.462	9.5058	0.39046	0.0:0.0:0.0:1.0	.	208	Q15742	NAB2_HUMAN	L	208	.	ENSP00000300131:F208L	F	+	1	0	NAB2	55771713	0.994000	0.37717	0.852000	0.33557	0.975000	0.68041	0.652000	0.24888	1.732000	0.51606	0.379000	0.24179	TTC		0.716	NAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412222.1	NM_005967	
RASSF9	9182	broad.mit.edu	37	12	86199112	86199112	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:86199112C>G	ENST00000361228.3	-	2	1044	c.676G>C	c.(676-678)Gat>Cat	p.D226H		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	226					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTTCTCCATCATTTTCTACT	0.398																																						uc001taf.1																			0				endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(676-678)Gat>Cat		Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.							157.0	148.0	151.0					12																	86199112		1851	4112	5963	SO:0001583	missense	9182				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity	g.chr12:86199112C>G		CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.676G>C	12.37:g.86199112C>G	ENSP00000354884:p.Asp226His						p.D226H	NM_005447	NP_005438	O75901	RASF9_HUMAN			1	1015	-			226					B3KMQ4|Q8N5U8	Missense_Mutation	SNP	ENST00000361228.3	37	c.676G>C	CCDS44950.1	.	.	.	.	.	.	.	.	.	.	C	8.819	0.937198	0.18206	.	.	ENSG00000198774	ENST00000361228	T	0.38401	1.14	4.84	-0.195	0.13236	.	0.780131	0.11878	N	0.520742	T	0.27027	0.0662	N	0.17800	0.525	0.34519	D	0.70797	P	0.36909	0.573	B	0.43274	0.414	T	0.36529	-0.9744	10	0.40728	T	0.16	-17.4564	8.9422	0.35736	0.0:0.5572:0.0:0.4428	.	226	O75901	RASF9_HUMAN	H	226	ENSP00000354884:D226H	ENSP00000354884:D226H	D	-	1	0	RASSF9	84723243	0.999000	0.42202	0.964000	0.40570	0.931000	0.56810	0.697000	0.25556	-0.255000	0.09486	0.650000	0.86243	GAT		0.398	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406109.1		
NR2C1	7181	broad.mit.edu	37	12	95445680	95445680	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:95445680C>A	ENST00000333003.5	-	8	1153	c.823G>T	c.(823-825)Gtg>Ttg	p.V275L	NR2C1_ENST00000330677.7_Missense_Mutation_p.V275L|NR2C1_ENST00000393101.3_Missense_Mutation_p.V275L|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	275					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GATGTAACCACATTGGCCAAT	0.303																																						uc001tdm.4																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						c.(823-825)Gtg>Ttg		Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.							67.0	66.0	67.0					12																	95445680		2203	4300	6503	SO:0001583	missense	7181				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	g.chr12:95445680C>A	M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.823G>T	12.37:g.95445680C>A	ENSP00000333275:p.Val275Leu					NR2C1_uc010suu.1_Missense_Mutation_p.V275L|NR2C1_uc001tdn.4_Missense_Mutation_p.V275L|NR2C1_uc001tdo.4_Missense_Mutation_p.V275L	p.V275L	NM_003297	NP_003288	P13056	NR2C1_HUMAN			7	1079	-			275					A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	ENST00000333003.5	37	c.823G>T	CCDS9051.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.737646	0.89573	.	.	ENSG00000120798	ENST00000333003;ENST00000393101;ENST00000330677	D;D;D	0.92249	-3.0;-2.83;-2.83	5.5	5.5	0.81552	Nuclear hormone receptor, ligand-binding (1);	0.107096	0.64402	D	0.000006	D	0.95865	0.8654	M	0.74881	2.28	0.80722	D	1	D;D;P;D	0.67145	0.994;0.996;0.811;0.994	D;D;B;D	0.76071	0.97;0.987;0.353;0.97	D	0.94931	0.8082	10	0.40728	T	0.16	.	19.4055	0.94646	0.0:1.0:0.0:0.0	.	275;275;275;275	B6ZGT7;P13056-3;P13056-2;P13056	.;.;.;NR2C1_HUMAN	L	275	ENSP00000333275:V275L;ENSP00000376813:V275L;ENSP00000328843:V275L	ENSP00000328843:V275L	V	-	1	0	NR2C1	93969811	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.340000	0.79292	2.587000	0.87381	0.591000	0.81541	GTG		0.303	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407565.2	NM_003297	
NOS1	4842	broad.mit.edu	37	12	117710328	117710328	+	Silent	SNP	G	G	A	rs569838932		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:117710328G>A	ENST00000338101.4	-	9	1705	c.1701C>T	c.(1699-1701)taC>taT	p.Y567Y	NOS1_ENST00000317775.6_Silent_p.Y567Y|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		CGGGGAGGCCGTACCACTTCA	0.612													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15187	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(162;1748 2599 51982 52956)	uc001twn.2																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(1699-1701)taC>taT		Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	L-Citrulline(DB00155)						46.0	51.0	49.0					12																	117710328		2174	4290	6464	SO:0001819	synonymous_variant	4842				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr12:117710328G>A		CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1701C>T	12.37:g.117710328G>A						NOS1_uc021ren.1_Silent_p.Y231Y|NOS1_uc021reo.1_Silent_p.Y231Y|NOS1_uc001twm.2_Silent_p.Y567Y	p.Y567Y	NM_001204218	NP_001191147	P29475	NOS1_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.0561)	9	2412	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		567						Silent	SNP	ENST00000338101.4	37	c.1701C>T	CCDS55890.1																																																																																				0.612	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
HCAR3	8843	broad.mit.edu	37	12	123200222	123200222	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:123200222G>A	ENST00000528880.2	-	1	1217	c.1063C>T	c.(1063-1065)Ccc>Tcc	p.P355S	RP11-324E6.6_ENST00000543611.1_lincRNA|HCAR1_ENST00000356987.2_Intron	NM_006018.2	NP_006009.2	P49019	HCAR3_HUMAN	hydroxycarboxylic acid receptor 3	355					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9					Niacin(DB00627)	AGATAAGAGGGGCTCCATGGC	0.537																																						uc001ucy.4																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9						c.(1063-1065)Ccc>Tcc		Homo sapiens hydroxycarboxylic acid receptor 3 (HCAR3), mRNA.	Mepenzolate(DB04843)|Niacin(DB00627)						88.0	95.0	93.0					12																	123200222		2203	4300	6503	SO:0001583	missense	8843					integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr12:123200222G>A	D10923	CCDS53842.1	12q24.31	2012-08-08	2011-05-30	2011-05-30		ENSG00000255398		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	16824	protein-coding gene	gene with protein product		606039	"""G protein-coupled receptor 109B"""	GPR109B		7505609, 9205127, 18983141, 21454438	Standard	NM_006018		Approved	HCA3, HM74	uc001ucy.4	P49019		ENST00000528880.2:c.1063C>T	12.37:g.123200222G>A	ENSP00000436714:p.Pro355Ser					HCAR1_uc001ucw.1_Intron	p.P355S	NM_006018	NP_006009	P49019	HCAR3_HUMAN			0	1218	-			355					A8K4G5|B2R830|E9PI97|Q8NGE4	Missense_Mutation	SNP	ENST00000528880.2	37	c.1063C>T	CCDS53842.1	.	.	.	.	.	.	.	.	.	.	g	11.71	1.719626	0.30503	.	.	ENSG00000255398	ENST00000528880	T	0.61627	0.09	2.99	0.785	0.18584	.	.	.	.	.	T	0.41858	0.1177	L	0.40543	1.245	0.31647	N	0.64728	B	0.14438	0.01	B	0.11329	0.006	T	0.39272	-0.9622	9	0.28530	T	0.3	.	4.8385	0.13476	0.1325:0.0:0.658:0.2094	.	355	E9PI97	.	S	355	ENSP00000436714:P355S	ENSP00000436714:P355S	P	-	1	0	HCAR3	121766175	0.897000	0.30589	0.383000	0.26132	0.186000	0.23388	0.919000	0.28692	0.527000	0.28560	0.184000	0.17185	CCC		0.537	HCAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387549.2	NM_006018	
EML5	161436	broad.mit.edu	37	14	89130847	89130847	+	Nonsense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr14:89130847C>T	ENST00000380664.5	-	23	3398	c.3399G>A	c.(3397-3399)tgG>tgA	p.W1133*	EML5_ENST00000352093.5_Nonsense_Mutation_p.W1095*|EML5_ENST00000554922.1_Nonsense_Mutation_p.W1133*			Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1133						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)	catalytic activity (GO:0003824)			breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTCTAATATCCCAATCAATAT	0.308																																						uc021ryf.1																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(3397-3399)tgG>tgA		Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.							95.0	90.0	92.0					14																	89130847		1794	4059	5853	SO:0001587	stop_gained	161436					cytoplasm|microtubule		g.chr14:89130847C>T	AY357725	CCDS45148.1	14q31.3	2013-01-10				ENSG00000165521		"""WD repeat domain containing"""	18197	protein-coding gene	gene with protein product							Standard	NM_183387		Approved	HuEMAP-2, EMAP-2	uc021ryf.1	Q05BV3		ENST00000380664.5:c.3399G>A	14.37:g.89130847C>T	ENSP00000370039:p.Trp1133*					EML5_uc001xxf.3_5'UTR|EML5_uc021ryg.1_Nonsense_Mutation_p.W1133*|EML5_uc001xxh.1_Nonsense_Mutation_p.W272*	p.W1133*	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN			22	3648	-			1133					B9EK59|Q5H9N6|Q6UYC9|Q6ZRP3|Q6ZT03	Nonsense_Mutation	SNP	ENST00000380664.5	37	c.3399G>A	CCDS45148.1	.	.	.	.	.	.	.	.	.	.	C	44	11.273463	0.99539	.	.	ENSG00000165521	ENST00000554922;ENST00000352093;ENST00000380664	.	.	.	4.98	4.98	0.66077	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4852	18.4444	0.90678	0.0:1.0:0.0:0.0	.	.	.	.	X	1133;1095;1133	.	ENSP00000298315:W1095X	W	-	3	0	EML5	88200600	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.320000	0.79064	2.588000	0.87417	0.655000	0.94253	TGG		0.308	EML5-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000410491.1		
HS3ST4	9951	broad.mit.edu	37	16	26147153	26147153	+	Missense_Mutation	SNP	C	C	T	rs578031781	byFrequency	TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr16:26147153C>T	ENST00000331351.5	+	2	1347	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	319					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CTTCAAAAACCGGACCCTCGG	0.552													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17705	0.0		0.0	False		,,,				2504	0.0					uc002dof.3																			0				breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15						c.(955-957)Cgg>Tgg		Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.							174.0	165.0	168.0					16																	26147153		1568	3582	5150	SO:0001583	missense	9951				heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	g.chr16:26147153C>T	AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.955C>T	16.37:g.26147153C>T	ENSP00000330606:p.Arg319Trp						p.R319W	NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN		GBM - Glioblastoma multiforme(48;0.0988)	1	1347	+			319					Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	c.955C>T	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003460	0.74932	.	.	ENSG00000182601	ENST00000331351	T	0.55760	0.5	5.35	4.39	0.52855	Sulfotransferase domain (1);	0.000000	0.64402	U	0.000011	T	0.72439	0.3460	M	0.83384	2.64	0.58432	D	0.999994	D	0.89917	1.0	D	0.78314	0.991	T	0.75602	-0.3261	10	0.59425	D	0.04	.	11.9895	0.53168	0.3498:0.6501:0.0:0.0	.	319	Q9Y661	HS3S4_HUMAN	W	319	ENSP00000330606:R319W	ENSP00000330606:R319W	R	+	1	2	HS3ST4	26054654	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.538000	0.36094	1.178000	0.42870	0.655000	0.94253	CGG		0.552	HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040	
ZNF48	197407	broad.mit.edu	37	16	30409831	30409831	+	Silent	SNP	G	G	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr16:30409831G>C	ENST00000320159.2	+	2	1636	c.1260G>C	c.(1258-1260)tcG>tcC	p.S420S	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	420	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S420S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CCTCACACTCGGGTGAGCCTT	0.692																																						uc002dya.2																			1	Substitution - coding silent(1)	p.S420S(2)|p.S420L(1)	lung(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						c.(1258-1260)tcG>tcC		Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.							23.0	26.0	25.0					16																	30409831		2193	4294	6487	SO:0001819	synonymous_variant	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30409831G>C	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1260G>C	16.37:g.30409831G>C						ZNF48_uc021tgi.1_Silent_p.S420S|ZNF48_uc021tgj.1_Silent_p.S297S|ZNF48_uc021tgk.1_Silent_p.S420S	p.S420S	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN			1	1636	+			420			Pro-rich.		Q15920|Q4G0R3|Q69YP3|Q96IL9	Silent	SNP	ENST00000320159.2	37	c.1260G>C	CCDS10679.1																																																																																				0.692	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652	
SHPK	23729	broad.mit.edu	37	17	3524530	3524530	+	Splice_Site	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:3524530C>T	ENST00000225519.3	-	5	926		c.e5+1			NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase						carbohydrate metabolic process (GO:0005975)|cellular response to interleukin-13 (GO:0035963)|cellular response to interleukin-4 (GO:0071353)|cellular response to lipopolysaccharide (GO:0071222)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|phosphorylation (GO:0016310)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|sedoheptulokinase activity (GO:0050277)			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GAAAAACTTACCTGCATCTGT	0.522																																						uc002fvz.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.e5+1		Homo sapiens sedoheptulokinase (SHPK), mRNA.							33.0	30.0	31.0					17																	3524530		2202	4300	6502	SO:0001630	splice_region_variant	23729				carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity	g.chr17:3524530C>T	AF163573	CCDS11030.1	17p13	2008-02-08	2008-02-08	2008-02-08	ENSG00000197417	ENSG00000197417	2.7.1.14		1492	protein-coding gene	gene with protein product		605060	"""carbohydrate kinase-like"""	CARKL		10673275, 18186520	Standard	NM_013276		Approved	SHK	uc002fvz.1	Q9UHJ6	OTTHUMG00000090694	ENST00000225519.3:c.823+1G>A	17.37:g.3524530C>T							p.V275_splice	NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN		COAD - Colon adenocarcinoma(5;0.0828)	5	926	-			275					B2R640|Q8WUH3	Splice_Site	SNP	ENST00000225519.3	37	c.823_splice	CCDS11030.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782646	0.49891	.	.	ENSG00000197417	ENST00000225519	.	.	.	4.75	3.76	0.43208	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5991	0.62010	0.1565:0.8435:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHPK	3471279	1.000000	0.71417	0.976000	0.42696	0.543000	0.35085	6.924000	0.75823	1.107000	0.41642	0.655000	0.94253	.		0.522	SHPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207378.2		Intron
ACACA	31	broad.mit.edu	37	17	35631152	35631152	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:35631152G>A	ENST00000394406.2	-	9	1019	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C	ACACA_ENST00000335166.5_Missense_Mutation_p.R199C|ACACA_ENST00000353139.5_Missense_Mutation_p.R314C|ACACA_ENST00000360679.3_Missense_Mutation_p.R219C	NM_198836.1	NP_942133.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	277	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|lipid homeostasis (GO:0055088)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|malonyl-CoA biosynthetic process (GO:2001295)|multicellular organismal protein metabolic process (GO:0044268)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|small molecule metabolic process (GO:0044281)|tissue homeostasis (GO:0001894)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTAAGATACGTTTTGAAAAA	0.408																																					Colon(23;82 258 739 2117 10493 24037 27661 34815 35438 36249)	uc002hnm.3																			0				NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83						c.(829-831)Cgt>Tgt		Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	Biotin(DB00121)						142.0	124.0	130.0					17																	35631152		2203	4300	6503	SO:0001583	missense	31				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr17:35631152G>A	U19822	CCDS11317.1, CCDS11318.1, CCDS42302.1, CCDS42303.1	17q21	2014-05-06	2010-04-30		ENSG00000132142	ENSG00000278540	6.4.1.2		84	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 1"""	200350	"""acetyl-Coenzyme A carboxylase alpha"""	ACAC, ACC			Standard	NM_198837		Approved	ACC1	uc002hno.3	Q13085	OTTHUMG00000188463	ENST00000394406.2:c.829C>T	17.37:g.35631152G>A	ENSP00000377928:p.Arg277Cys					ACACA_uc002hnk.3_Missense_Mutation_p.R199C|ACACA_uc002hnl.3_Missense_Mutation_p.R219C|ACACA_uc002hnn.3_Missense_Mutation_p.R277C|ACACA_uc002hno.3_Missense_Mutation_p.R314C|ACACA_uc010cuz.3_Missense_Mutation_p.R277C|ACACA_uc002hnq.2_Missense_Mutation_p.R199C	p.R277C	NM_198836	NP_942135	Q13085	ACACA_HUMAN			8	1020	-		Breast(25;0.00157)|Ovarian(249;0.15)	277			ATP-grasp.|Biotin carboxylation.		B2RP68|Q6KEV6|Q6XDA8|Q7Z2G8|Q7Z561|Q7Z563|Q7Z564|Q86WB2|Q86WB3	Missense_Mutation	SNP	ENST00000394406.2	37	c.829C>T	CCDS11317.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.178013	0.57692	.	.	ENSG00000132142	ENST00000353139;ENST00000360679;ENST00000394406;ENST00000452074;ENST00000335166;ENST00000456066	D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5	5.96	5.96	0.96718	ATP-grasp fold (1);Biotin carboxylation domain (1);	0.173464	0.56097	D	0.000033	D	0.96775	0.8947	N	0.19112	0.55	0.80722	D	1	D;B;B	0.65815	0.995;0.02;0.208	P;B;B	0.54924	0.764;0.001;0.007	D	0.97250	0.9897	10	0.62326	D	0.03	-10.3146	20.4192	0.99033	0.0:0.0:1.0:0.0	.	314;277;219	Q13085-4;Q13085;Q13085-2	.;ACACA_HUMAN;.	C	314;219;277;301;199;199	ENSP00000344789:R314C;ENSP00000353898:R219C;ENSP00000377928:R277C;ENSP00000335323:R199C	ENSP00000335323:R199C	R	-	1	0	ACACA	32705265	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.533000	0.53561	2.831000	0.97527	0.650000	0.86243	CGT		0.408	ACACA-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256696.1	NM_198836	
AOC2	314	broad.mit.edu	37	17	40997352	40997352	+	Missense_Mutation	SNP	G	G	A	rs577504737		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:40997352G>A	ENST00000253799.3	+	1	736	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	AOC2_ENST00000452774.2_Missense_Mutation_p.V237M	NM_009590.2	NP_033720.2	O75106	AOC2_HUMAN	amine oxidase, copper containing 2 (retina-specific)	237					amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCTTCACCCCGTGGGGCTGGA	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		18454	0.0		0.001	False		,,,				2504	0.0					uc002ibu.3																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30						c.(709-711)Gtg>Atg		Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.							64.0	61.0	62.0					17																	40997352		2203	4300	6503	SO:0001583	missense	314				catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:40997352G>A	AF081363	CCDS11443.1, CCDS45690.1	17q21	2012-07-13				ENSG00000131480	1.4.3.21		549	protein-coding gene	gene with protein product		602268				9119395, 9722954	Standard	NM_001158		Approved	RAO, DAO2	uc002ibu.3	O75106		ENST00000253799.3:c.709G>A	17.37:g.40997352G>A	ENSP00000253799:p.Val237Met					AOC2_uc002ibt.3_Missense_Mutation_p.V237M	p.V237M	NM_009590	NP_033720	O75106	AOC2_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	0	744	+		Breast(137;0.000143)	237					A5PKW2|O00120|O75105|Q4TTW5|Q9UNY0	Missense_Mutation	SNP	ENST00000253799.3	37	c.709G>A	CCDS11443.1	.	.	.	.	.	.	.	.	.	.	G	17.15	3.314971	0.60524	.	.	ENSG00000131480	ENST00000253799;ENST00000452774	T;T	0.38722	1.12;1.12	5.29	4.3	0.51218	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	0.137844	0.49305	D	0.000146	T	0.58722	0.2142	M	0.65975	2.015	0.46185	D	0.998911	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.967	T	0.59695	-0.7406	10	0.56958	D	0.05	-49.6893	9.3241	0.37982	0.0758:0.1461:0.7781:0.0	.	237;237	O75106;O75106-2	AOC2_HUMAN;.	M	237	ENSP00000253799:V237M;ENSP00000406134:V237M	ENSP00000253799:V237M	V	+	1	0	AOC2	38250878	1.000000	0.71417	0.990000	0.47175	0.991000	0.79684	5.529000	0.67135	1.203000	0.43233	0.561000	0.74099	GTG		0.612	AOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452442.1	NM_009590, NM_001158	
MYO5B	4645	broad.mit.edu	37	18	47463738	47463738	+	Silent	SNP	A	A	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr18:47463738A>G	ENST00000285039.7	-	15	2081	c.1782T>C	c.(1780-1782)gaT>gaC	p.D594D		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	594	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGTCCTTGTCATCATGAAACA	0.507																																						uc002leb.2																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(1780-1782)gaT>gaC		Homo sapiens myosin VB (MYO5B), mRNA.							54.0	56.0	55.0					18																	47463738		1991	4177	6168	SO:0001819	synonymous_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47463738A>G	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1782T>C	18.37:g.47463738A>G						MYO5B_uc021ukb.1_Silent_p.D593D	p.D594D	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	14	2070	-			594			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Silent	SNP	ENST00000285039.7	37	c.1782T>C	CCDS42436.1																																																																																				0.507	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2		
MIDN	90007	broad.mit.edu	37	19	1257154	1257154	+	Missense_Mutation	SNP	T	T	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:1257154T>G	ENST00000591446.2	+	7	1699	c.1290T>G	c.(1288-1290)agT>agG	p.S430R	MIDN_ENST00000300952.2_Missense_Mutation_p.S430R|CIRBP_ENST00000588030.1_5'Flank			Q504T8	MIDN_HUMAN	midnolin	430						cytosol (GO:0005829)|nucleolus (GO:0005730)				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGACAGCAGTAGCAGCGGGG	0.682																																						uc002lrp.3																			0				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13						c.(1288-1290)agT>agG		Homo sapiens midnolin (MIDN), mRNA.							22.0	26.0	25.0					19																	1257154		2189	4267	6456	SO:0001583	missense	90007					nucleolus		g.chr19:1257154T>G	AC004221	CCDS32864.1	19p13.3	2013-09-20			ENSG00000167470	ENSG00000167470			16298	protein-coding gene	gene with protein product		606700				10974535	Standard	XM_005259671		Approved		uc002lrp.3	Q504T8	OTTHUMG00000180144	ENST00000591446.2:c.1290T>G	19.37:g.1257154T>G	ENSP00000467679:p.Ser430Arg						p.S430R	NM_177401	NP_796375	Q504T8	MIDN_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1805	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)	430					Q96BW8	Missense_Mutation	SNP	ENST00000591446.2	37	c.1290T>G	CCDS32864.1	.	.	.	.	.	.	.	.	.	.	t	10.15	1.270133	0.23221	.	.	ENSG00000167470	ENST00000300952	.	.	.	3.35	-1.52	0.08637	.	.	.	.	.	T	0.20455	0.0492	N	0.08118	0	0.27436	N	0.953879	B	0.23058	0.079	B	0.25884	0.064	T	0.22941	-1.0202	8	0.33141	T	0.24	-8.4924	7.3839	0.26872	0.0:0.5721:0.0:0.4279	.	430	Q504T8	MIDN_HUMAN	R	430	.	ENSP00000300952:S430R	S	+	3	2	MIDN	1208154	0.999000	0.42202	0.014000	0.15608	0.024000	0.10985	0.648000	0.24828	-0.477000	0.06832	-0.423000	0.05987	AGT		0.682	MIDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449965.2		
ZNF492	57615	broad.mit.edu	37	19	22846866	22846866	+	Missense_Mutation	SNP	C	C	T	rs376885920		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:22846866C>T	ENST00000456783.2	+	4	639	c.395C>T	c.(394-396)aCg>aTg	p.T132M	CTC-457E21.9_ENST00000601860.1_RNA	NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	132					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AACAGACATACGATAAGACAT	0.308																																						uc002nqw.3																			0				endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(394-396)aCg>aTg		Homo sapiens zinc finger protein 492 (ZNF492), mRNA.		A	MET/THR	0,4206		0,0,2103	36.0	38.0	37.0		395	1.5	0.0	19		37	1,8507		0,1,4253	no	missense	ZNF492	NM_020855.2	81	0,1,6356	TT,TC,CC		0.0118,0.0,0.0079	possibly-damaging	132/532	22846866	1,12713	2103	4254	6357	SO:0001583	missense	57615				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22846866C>T	AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.395C>T	19.37:g.22846866C>T	ENSP00000413660:p.Thr132Met						p.T132M	NM_020855	NP_065906	Q9P255	ZN492_HUMAN			3	639	+		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)	132					Q08EI7|Q08EI8	Missense_Mutation	SNP	ENST00000456783.2	37	c.395C>T	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	9.174	1.021830	0.19433	0.0	1.18E-4	ENSG00000229676	ENST00000456783	T	0.15952	2.38	1.47	1.47	0.22746	.	.	.	.	.	T	0.04272	0.0118	N	0.01076	-1.035	0.09310	N	1	P	0.36874	0.572	B	0.26614	0.071	T	0.31364	-0.9946	9	0.87932	D	0	.	5.3151	0.15850	0.704:0.296:0.0:0.0	.	132	Q9P255	ZN492_HUMAN	M	132	ENSP00000413660:T132M	ENSP00000413660:T132M	T	+	2	0	ZNF492	22638706	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-5.025000	0.00159	-0.325000	0.08577	-0.681000	0.03757	ACG		0.308	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1	NM_020855	
PAK4	10298	broad.mit.edu	37	19	39660357	39660357	+	Missense_Mutation	SNP	A	A	C	rs112229040		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:39660357A>C	ENST00000593690.1	+	4	591	c.164A>C	c.(163-165)gAc>gCc	p.D55A	PAK4_ENST00000360442.3_Missense_Mutation_p.D55A|PAK4_ENST00000599386.1_Missense_Mutation_p.D55A|PAK4_ENST00000358301.3_Missense_Mutation_p.D55A|PAK4_ENST00000435673.2_Missense_Mutation_p.D55A|PAK4_ENST00000599470.1_Missense_Mutation_p.D55A|PAK4_ENST00000321944.4_Missense_Mutation_p.D55A	NM_001014831.2	NP_001014831.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	55	Linker.				apoptotic process (GO:0006915)|cell cycle (GO:0007049)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cytoskeleton organization (GO:0007010)|signal transduction (GO:0007165)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D55A(2)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCCCTCGTCGACCCCGCCTGC	0.716																																						uc002okj.1																			2	Substitution - Missense(2)	p.D55A(4)	lung(1)|central_nervous_system(1)	central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13						c.(163-165)gAc>gCc		Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.							24.0	28.0	27.0					19																	39660357		2199	4292	6491	SO:0001583	missense	10298				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr19:39660357A>C	AJ011855	CCDS12528.1, CCDS33019.1	19p11-q11	2008-06-17	2008-06-17						16059	protein-coding gene	gene with protein product		605451	"""p21(CDKN1A)-activated kinase 4"""			9822598, 10461188	Standard	NM_001014831		Approved		uc002okn.1	O96013		ENST00000593690.1:c.164A>C	19.37:g.39660357A>C	ENSP00000469413:p.Asp55Ala					PAK4_uc002okl.1_Missense_Mutation_p.D55A|PAK4_uc002okn.1_Missense_Mutation_p.D55A|PAK4_uc002okm.1_Missense_Mutation_p.D55A|PAK4_uc002oko.1_Missense_Mutation_p.D55A|PAK4_uc002okp.1_Missense_Mutation_p.D55A	p.D55A	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)		3	625	+	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		55			Linker.		B4DGG6|Q8N4E1|Q8NCH5|Q8NDE3|Q9BU33|Q9ULS8	Missense_Mutation	SNP	ENST00000593690.1	37	c.164A>C	CCDS12528.1	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220419	0.39201	.	.	ENSG00000130669	ENST00000358301;ENST00000321944;ENST00000435673;ENST00000360442	T;T;T;T	0.46063	0.88;0.88;0.88;0.88	3.83	3.83	0.44106	PAK-box/P21-Rho-binding (1);	0.000000	0.85682	D	0.000000	T	0.65984	0.2744	M	0.86740	2.835	0.53005	D	0.999968	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.91635	0.999;0.994;0.996	T	0.71002	-0.4718	10	0.59425	D	0.04	.	10.8754	0.46909	1.0:0.0:0.0:0.0	.	55;55;55	O96013-4;O96013-3;O96013	.;.;PAK4_HUMAN	A	55	ENSP00000351049:D55A;ENSP00000326864:D55A;ENSP00000392753:D55A;ENSP00000353625:D55A	ENSP00000326864:D55A	D	+	2	0	PAK4	44352197	1.000000	0.71417	0.979000	0.43373	0.292000	0.27327	6.056000	0.71111	1.718000	0.51419	0.449000	0.29647	GAC		0.716	PAK4-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463823.1		
LTBP4	8425	broad.mit.edu	37	19	41129963	41129963	+	Missense_Mutation	SNP	G	G	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:41129963G>C	ENST00000308370.7	+	30	4006	c.4006G>C	c.(4006-4008)Gtc>Ctc	p.V1336L	LTBP4_ENST00000396819.3_Missense_Mutation_p.V1269L|LTBP4_ENST00000243562.9_3'UTR|LTBP4_ENST00000545697.1_Missense_Mutation_p.V704L|LTBP4_ENST00000204005.9_Missense_Mutation_p.V1299L|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1337	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGCCGCTGCGTCTCCAACGA	0.682																																						uc002ooh.1																			0				central_nervous_system(1)	1						c.(4006-4008)Gtc>Ctc		Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.							14.0	19.0	18.0					19																	41129963		1994	4149	6143	SO:0001583	missense	8425				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	g.chr19:41129963G>C	Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.4006G>C	19.37:g.41129963G>C	ENSP00000311905:p.Val1336Leu					LTBP4_uc002oog.1_Missense_Mutation_p.V1299L|LTBP4_uc002ooi.1_Missense_Mutation_p.V1269L|LTBP4_uc002ooj.1_Missense_Mutation_p.V210L|LTBP4_uc002ook.1_Missense_Mutation_p.V471L|LTBP4_uc002ool.1_Missense_Mutation_p.V349L|LTBP4_uc010xvp.1_Missense_Mutation_p.V97L	p.V1336L	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)		29	4006	+			1337			EGF-like 14; calcium-binding (Potential).		O00508|O75412|O75413	Missense_Mutation	SNP	ENST00000308370.7	37	c.4006G>C		.	.	.	.	.	.	.	.	.	.	G	32	5.126452	0.94429	.	.	ENSG00000090006	ENST00000204005;ENST00000545697;ENST00000308370;ENST00000396819;ENST00000318809	D;D;D;D	0.81659	-1.52;-1.52;-1.52;-1.52	4.41	4.41	0.53225	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.35235	N	0.003345	D	0.88418	0.6431	.	.	.	0.54753	D	0.99998	D;D;P;P;D;D	0.67145	0.996;0.959;0.931;0.832;0.96;0.96	D;D;D;B;P;P	0.74674	0.984;0.959;0.911;0.254;0.491;0.491	D	0.87861	0.2664	9	0.37606	T	0.19	.	15.9091	0.79456	0.0:0.0:1.0:0.0	.	97;349;557;1269;1337;1299	F5GYA5;Q8N2S1-4;B3KXY6;E7EUU1;Q8N2S1;E7ENG9	.;.;.;.;LTBP4_HUMAN;.	L	1299;704;1336;1269;97	ENSP00000204005:V1299L;ENSP00000441054:V704L;ENSP00000311905:V1336L;ENSP00000380031:V1269L	ENSP00000204005:V1299L	V	+	1	0	LTBP4	45821803	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.046000	0.64226	2.294000	0.77228	0.462000	0.41574	GTC		0.682	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003573	
SP3	6670	broad.mit.edu	37	2	174820235	174820235	+	Silent	SNP	A	A	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:174820235A>G	ENST00000310015.6	-	4	1535	c.1005T>C	c.(1003-1005)tcT>tcC	p.S335S	SP3_ENST00000418194.2_Silent_p.S267S|SP3_ENST00000455789.2_Silent_p.S282S|SP3_ENST00000483084.1_5'Flank	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	335					B cell differentiation (GO:0030183)|definitive hemopoiesis (GO:0060216)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|embryonic skeletal system development (GO:0048706)|enucleate erythrocyte differentiation (GO:0043353)|granulocyte differentiation (GO:0030851)|liver development (GO:0001889)|lung development (GO:0030324)|megakaryocyte differentiation (GO:0030219)|monocyte differentiation (GO:0030224)|natural killer cell differentiation (GO:0001779)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|T cell differentiation (GO:0030217)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|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 sequence-specific DNA binding (GO:0000979)		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ACTGTGATGAAGAGGATGTTG	0.378																																						uc002uig.3																		EWSR1/SP3(3)	0				NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9						c.(1003-1005)tcT>tcC		Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.							127.0	128.0	128.0					2																	174820235		2203	4300	6503	SO:0001819	synonymous_variant	6670				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding	g.chr2:174820235A>G	M97191	CCDS2254.1, CCDS46452.1	2q31	2013-01-08			ENSG00000172845	ENSG00000172845		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11208	protein-coding gene	gene with protein product		601804				1341900, 1454515	Standard	NM_003111		Approved	SPR-2	uc002uig.3	Q02447	OTTHUMG00000132333	ENST00000310015.6:c.1005T>C	2.37:g.174820235A>G						SP3_uc002uie.3_Silent_p.S267S|SP3_uc002uif.3_Silent_p.S282S|SP3_uc010zel.2_Silent_p.S332S	p.S335S	NM_003111	NP_003102	Q02447	SP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.185)		3	1536	-			335					A0AVL9|B4E2B7|Q69B26|Q69B27|Q8TD56|Q8WWU4|Q9BQR1	Silent	SNP	ENST00000310015.6	37	c.1005T>C	CCDS2254.1	.	.	.	.	.	.	.	.	.	.	A	4.439	0.081190	0.08533	.	.	ENSG00000172845	ENST00000416195	.	.	.	5.51	3.1	0.35709	.	.	.	.	.	T	0.56441	0.1985	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51004	-0.8760	4	.	.	.	.	7.7813	0.29066	0.7874:0.1404:0.0721:0.0	.	.	.	.	P	292	.	.	L	-	2	0	SP3	174528481	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.525000	0.35953	0.877000	0.35895	0.460000	0.39030	CTT		0.378	SP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255452.1	NM_003111	
GPR1	2825	broad.mit.edu	37	2	207041266	207041266	+	Nonsense_Mutation	SNP	G	G	A	rs34685097	byFrequency	TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:207041266G>A	ENST00000407325.2	-	3	1068	c.706C>T	c.(706-708)Cga>Tga	p.R236*	GPR1_ENST00000437420.1_Nonsense_Mutation_p.R236*	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	236					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AGGATGCTTCGCTTCTTCACC	0.438													G|||	3	0.000599042	0.0	0.0	5008	,	,		22634	0.002		0.0	False		,,,				2504	0.001					uc021vvl.1																			0				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18						c.(706-708)Cga>Tga		Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.		G	stop/ARG,stop/ARG	1,4405	2.1+/-5.4	0,1,2202	100.0	101.0	101.0		706,706	3.8	1.0	2	dbSNP_126	101	0,8600		0,0,4300	yes	stop-gained,stop-gained	GPR1	NM_001098199.1,NM_005279.3	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	236/356,236/356	207041266	1,13005	2203	4300	6503	SO:0001587	stop_gained	2825					integral to plasma membrane	G-protein coupled receptor activity	g.chr2:207041266G>A		CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.706C>T	2.37:g.207041266G>A	ENSP00000384345:p.Arg236*					GPR1_uc002vbl.4_Nonsense_Mutation_p.R236*|GPR1_uc010fue.3_Nonsense_Mutation_p.R236*|GPR1_uc010fuf.3_Nonsense_Mutation_p.R236*	p.R236*	NM_005279	NP_005270	P46091	GPR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)	0	706	-		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)	236					A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Nonsense_Mutation	SNP	ENST00000407325.2	37	c.706C>T	CCDS2368.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	29.6	5.017612	0.93404	2.27E-4	0.0	ENSG00000183671	ENST00000407325;ENST00000437420	.	.	.	5.7	3.82	0.43975	.	0.416599	0.24102	N	0.041529	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.1648	0.65469	0.0:0.0:0.5134:0.4866	rs34685097	.	.	.	X	236	.	ENSP00000384345:R236X	R	-	1	2	GPR1	206749511	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	1.939000	0.40213	1.400000	0.46741	0.655000	0.94253	CGA		0.438	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256394.2	NM_001098199	
COPS7B	64708	broad.mit.edu	37	2	232653347	232653347	+	Missense_Mutation	SNP	A	A	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:232653347A>T	ENST00000350033.3	+	2	208	c.67A>T	c.(67-69)Agt>Tgt	p.S23C	COPS7B_ENST00000409295.1_Intron|COPS7B_ENST00000409091.1_Intron|COPS7B_ENST00000410024.1_Missense_Mutation_p.S23C|COPS7B_ENST00000410017.1_Missense_Mutation_p.S23C|COPS7B_ENST00000373608.3_Missense_Mutation_p.S23C	NM_001282949.1|NM_022730.1	NP_001269878.1|NP_073567.1	Q9H9Q2	CSN7B_HUMAN	COP9 signalosome subunit 7B	23					cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAAAGGTACCAGTGGCTCAGC	0.493																																						uc002vsh.1																			0				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8						c.(67-69)Agt>Tgt		Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA.							85.0	87.0	86.0					2																	232653347		2203	4300	6503	SO:0001583	missense	64708				cullin deneddylation	cytoplasm|signalosome		g.chr2:232653347A>T	AK022674	CCDS2488.1, CCDS63152.1, CCDS63153.1, CCDS63154.1, CCDS74668.1	2q37.1	2013-03-14	2013-03-14		ENSG00000144524	ENSG00000144524			16760	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7B"", ""COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis)"""			9707402	Standard	NM_001282950		Approved	CSN7B	uc002vsg.1	Q9H9Q2	OTTHUMG00000133228	ENST00000350033.3:c.67A>T	2.37:g.232653347A>T	ENSP00000272995:p.Ser23Cys					COPS7B_uc010fxy.1_Intron|COPS7B_uc002vsg.1_Missense_Mutation_p.S23C|COPS7B_uc002vsi.1_5'UTR|COPS7B_uc002vsj.1_5'Flank	p.S23C			Q9H9Q2	CSN7B_HUMAN		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)	1	170	+		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)	23					Q53S22|Q5BJG3|Q9H7V6	Missense_Mutation	SNP	ENST00000350033.3	37	c.67A>T	CCDS2488.1	.	.	.	.	.	.	.	.	.	.	A	27.0	4.790692	0.90367	.	.	ENSG00000144524	ENST00000410024;ENST00000350033;ENST00000412591;ENST00000410017;ENST00000373608	T;T;T;T	0.52057	0.71;0.71;0.68;0.68	5.06	5.06	0.68205	.	0.213716	0.47455	D	0.000221	T	0.55689	0.1936	L	0.39898	1.24	0.52501	D	0.999959	P;B	0.50943	0.94;0.221	P;B	0.57324	0.818;0.159	T	0.59311	-0.7478	10	0.72032	D	0.01	-6.3719	14.9694	0.71220	1.0:0.0:0.0:0.0	.	23;23	Q9H9Q2-3;Q9H9Q2	.;CSN7B_HUMAN	C	23	ENSP00000386567:S23C;ENSP00000272995:S23C;ENSP00000386880:S23C;ENSP00000362710:S23C	ENSP00000272995:S23C	S	+	1	0	COPS7B	232361591	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.002000	0.63952	2.111000	0.64477	0.460000	0.39030	AGT		0.493	COPS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256964.2	NM_022730	
TGM3	7053	broad.mit.edu	37	20	2298127	2298127	+	Missense_Mutation	SNP	G	G	A	rs370121854		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:2298127G>A	ENST00000381458.5	+	7	1042	c.979G>A	c.(979-981)Gta>Ata	p.V327I	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	327					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TAGTGATAGCGTATGGTAAGT	0.507																																						uc002wfx.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39						c.(979-981)Gta>Ata		Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	L-Glutamine(DB00130)	G	ILE/VAL	0,4406		0,0,2203	189.0	177.0	181.0		979	-0.0	0.0	20		181	2,8598	2.2+/-6.3	0,2,4298	no	missense	TGM3	NM_003245.3	29	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign	327/694	2298127	2,13004	2203	4300	6503	SO:0001583	missense	7053				cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:2298127G>A	L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.979G>A	20.37:g.2298127G>A	ENSP00000370867:p.Val327Ile						p.V327I	NM_003245	NP_003236	Q08188	TGM3_HUMAN			6	1076	+			327					A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	ENST00000381458.5	37	c.979G>A	CCDS33435.1	.	.	.	.	.	.	.	.	.	.	G	0.014	-1.573963	0.00887	0.0	2.33E-4	ENSG00000125780	ENST00000381458;ENST00000420960	T	0.48201	0.82	5.29	-0.0268	0.13929	Transglutaminase-like (2);	0.120124	0.56097	N	0.000031	T	0.22742	0.0549	N	0.13168	0.305	0.09310	N	1	B	0.15473	0.013	B	0.12156	0.007	T	0.25293	-1.0136	10	0.07813	T	0.8	.	8.8451	0.35166	0.4747:0.0:0.5253:0.0	.	327	Q08188	TGM3_HUMAN	I	327	ENSP00000370867:V327I	ENSP00000370867:V327I	V	+	1	0	TGM3	2246127	0.018000	0.18449	0.002000	0.10522	0.005000	0.04900	0.290000	0.18975	0.109000	0.17891	-0.812000	0.03155	GTA		0.507	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077579.2	NM_003245	
CRNKL1	51340	broad.mit.edu	37	20	20033098	20033098	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:20033098C>T	ENST00000377340.2	-	2	403	c.372G>A	c.(370-372)ccG>ccA	p.P124P	CRNKL1_ENST00000536226.1_5'UTR|C20orf26_ENST00000245957.5_5'Flank|C20orf26_ENST00000389656.3_5'Flank|CRNKL1_ENST00000377327.4_Silent_p.P112P|C20orf26_ENST00000377309.2_5'Flank|C20orf26_ENST00000377306.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	124					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ATCTCGGAACCGGAAGCGGAA	0.592																																						uc002wrs.3																			0				breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						c.(370-372)ccG>ccA		Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.							78.0	79.0	79.0					20																	20033098		2203	4300	6503	SO:0001819	synonymous_variant	51340				spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding	g.chr20:20033098C>T	AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.372G>A	20.37:g.20033098C>T						C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Silent_p.P112P	p.P124P	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN			1	404	-			124					A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Silent	SNP	ENST00000377340.2	37	c.372G>A	CCDS33446.1																																																																																				0.592	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000127787.1		
CD93	22918	broad.mit.edu	37	20	23065129	23065129	+	Silent	SNP	G	G	A	rs546513788		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:23065129G>A	ENST00000246006.4	-	1	1848	c.1701C>T	c.(1699-1701)tcC>tcT	p.S567S		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	567					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGTGGCCACGGAGGAGTCCC	0.637													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15013	0.0		0.0	False		,,,				2504	0.0					uc002wsv.3																			0				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1699-1701)tcC>tcT		Homo sapiens CD93 molecule (CD93), mRNA.							92.0	91.0	91.0					20																	23065129		2203	4300	6503	SO:0001819	synonymous_variant	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065129G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1701C>T	20.37:g.23065129G>A							p.S567S	NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN			0	1849	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		567					O00274	Silent	SNP	ENST00000246006.4	37	c.1701C>T	CCDS13149.1																																																																																				0.637	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072	
BPIFB2	80341	broad.mit.edu	37	20	31596448	31596448	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:31596448C>T	ENST00000170150.3	+	2	263	c.68C>T	c.(67-69)cCa>cTa	p.P23L		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	23						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)										GCCTCCACGCCAGGCACCGTG	0.622																																						uc002wyj.3																			0											c.(67-69)cCa>cTa		Homo sapiens BPI fold containing family B, member 2 (BPIFB2), mRNA.							54.0	44.0	47.0					20																	31596448		2203	4299	6502	SO:0001583	missense	80341					extracellular region	lipid binding	g.chr20:31596448C>T	AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.68C>T	20.37:g.31596448C>T	ENSP00000170150:p.Pro23Leu						p.P23L	NM_025227	NP_079503	Q8N4F0	BPIL1_HUMAN			1	262	+			23					Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	c.68C>T	CCDS13210.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.035596	0.54896	.	.	ENSG00000078898	ENST00000170150	T	0.08634	3.07	5.03	3.09	0.35607	.	0.287471	0.25166	N	0.032622	T	0.07234	0.0183	L	0.34521	1.04	0.22330	N	0.9992	B	0.21225	0.053	B	0.22152	0.038	T	0.27365	-1.0076	10	0.87932	D	0	-16.1913	8.2599	0.31779	0.0:0.8117:0.0:0.1883	.	23	Q8N4F0	BPIB2_HUMAN	L	23	ENSP00000170150:P23L	ENSP00000170150:P23L	P	+	2	0	BPIFB2	31060109	0.006000	0.16342	0.024000	0.17045	0.058000	0.15608	1.206000	0.32321	0.794000	0.33899	0.650000	0.86243	CCA		0.622	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227	
PREX1	57580	broad.mit.edu	37	20	47262489	47262489	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:47262489T>C	ENST00000371941.3	-	26	3434	c.3412A>G	c.(3412-3414)Agg>Ggg	p.R1138G	PREX1_ENST00000396220.1_Missense_Mutation_p.R1138G	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1138					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGTCACTCCTGTCCATCTCG	0.617																																						uc002xtw.1																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110						c.(3412-3414)Agg>Ggg		Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.							129.0	93.0	105.0					20																	47262489		2203	4300	6503	SO:0001583	missense	57580				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr20:47262489T>C	AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3412A>G	20.37:g.47262489T>C	ENSP00000361009:p.Arg1138Gly					PREX1_uc002xtv.1_Missense_Mutation_p.R435G	p.R1138G	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)		25	3435	-			1138					E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	ENST00000371941.3	37	c.3412A>G	CCDS13410.1	.	.	.	.	.	.	.	.	.	.	T	15.26	2.779854	0.49891	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.63096	0.01;-0.02	4.8	0.986	0.19784	.	0.097212	0.41605	U	0.000842	T	0.45935	0.1367	N	0.14661	0.345	0.29782	N	0.833944	P;P	0.44429	0.616;0.835	B;B	0.42771	0.199;0.397	T	0.52162	-0.8612	10	0.87932	D	0	.	12.6079	0.56532	0.0:0.0:0.3975:0.6025	.	1138;435	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	G	1138	ENSP00000361009:R1138G;ENSP00000379522:R1138G	ENSP00000361009:R1138G	R	-	1	2	PREX1	46695896	1.000000	0.71417	0.940000	0.37924	0.398000	0.30690	2.529000	0.45632	-0.048000	0.13401	-0.313000	0.08912	AGG		0.617	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079623.1	NM_020820	
HELZ2	85441	broad.mit.edu	37	20	62197056	62197056	+	Missense_Mutation	SNP	G	G	A	rs374824256		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:62197056G>A	ENST00000467148.1	-	8	3188	c.3119C>T	c.(3118-3120)gCg>gTg	p.A1040V	HELZ2_ENST00000427522.2_Missense_Mutation_p.A471V	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1040	Ala-rich.|Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										CGCTCCTGCCGCACAGGCCCC	0.687																																						uc002yfm.2																			0				NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47						c.(3118-3120)gCg>gTg		Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.		G	VAL/ALA,VAL/ALA	1,4391		0,1,2195	34.0	30.0	31.0		3119,1412	-3.4	0.0	20		31	0,8588		0,0,4294	no	missense,missense	PRIC285	NM_001037335.2,NM_033405.3	64,64	0,1,6489	AA,AG,GG		0.0,0.0228,0.0077	benign,benign	1040/2650,471/2081	62197056	1,12979	2196	4294	6490	SO:0001583	missense	85441				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	g.chr20:62197056G>A	AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.3119C>T	20.37:g.62197056G>A	ENSP00000417401:p.Ala1040Val					PRIC285_uc002yfl.1_Missense_Mutation_p.A471V	p.A1040V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)		8	4011	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		1040			Ala-rich.		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	ENST00000467148.1	37	c.3119C>T	CCDS33508.1	.	.	.	.	.	.	.	.	.	.	G	6.987	0.552285	0.13374	2.28E-4	0.0	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.80566	-1.39;-1.27	2.69	-3.4	0.04853	.	2.055150	0.02770	N	0.119638	T	0.57198	0.2037	N	0.03608	-0.345	0.09310	N	1	B;B	0.20550	0.046;0.019	B;B	0.14578	0.009;0.011	T	0.47058	-0.9146	10	0.29301	T	0.29	-0.0712	5.3651	0.16109	0.4134:0.2578:0.3288:0.0	.	1040;471	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	V	471;1040	ENSP00000393257:A471V;ENSP00000417401:A1040V	ENSP00000393257:A471V	A	-	2	0	RP4-697K14.7	61667500	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.247000	0.02893	-0.794000	0.04468	-0.657000	0.03884	GCG		0.687	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354127.1	NM_001037335	
IL17RA	23765	broad.mit.edu	37	22	17586805	17586805	+	Missense_Mutation	SNP	G	G	A	rs138404135		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:17586805G>A	ENST00000319363.6	+	11	1139	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	336					cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|fibroblast activation (GO:0072537)|positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of interleukin-23 production (GO:0032747)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	interleukin-17 receptor activity (GO:0030368)			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGTGGGCTCCGTCATCCTGCT	0.607																																						uc002zly.3																			0				endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30						c.(1006-1008)Gtc>Atc		Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.		G	ILE/VAL	0,4406		0,0,2203	103.0	78.0	86.0		1006	3.1	0.4	22	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IL17RA	NM_014339.5	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	336/867	17586805	1,13005	2203	4300	6503	SO:0001583	missense	23765				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity	g.chr22:17586805G>A	U58917	CCDS13739.1	22q11.1	2014-09-17	2006-04-26	2006-04-26	ENSG00000177663	ENSG00000177663		"""Interleukins and interleukin receptors"", ""CD molecules"""	5985	protein-coding gene	gene with protein product		605461	"""interleukin 17 receptor"""	IL17R		9367539, 10591208	Standard	NM_014339		Approved	hIL-17R, IL-17RA, CDw217, CD217	uc002zly.4	Q96F46	OTTHUMG00000150026	ENST00000319363.6:c.1006G>A	22.37:g.17586805G>A	ENSP00000320936:p.Val336Ile						p.V336I	NM_014339	NP_055154	Q96F46	I17RA_HUMAN		Colorectal(9;0.241)	10	1137	+		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	336					O43844|Q20WK1	Missense_Mutation	SNP	ENST00000319363.6	37	c.1006G>A	CCDS13739.1	.	.	.	.	.	.	.	.	.	.	G	8.399	0.841411	0.16963	0.0	1.16E-4	ENSG00000177663	ENST00000319363	T	0.07908	3.15	5.21	3.14	0.36123	.	0.471285	0.19514	N	0.112442	T	0.08447	0.0210	M	0.76574	2.34	0.20975	N	0.999812	P	0.48230	0.907	B	0.30316	0.114	T	0.29579	-1.0007	10	0.41790	T	0.15	-22.412	9.163	0.37035	0.1677:0.0:0.8323:0.0	.	336	Q96F46	I17RA_HUMAN	I	336	ENSP00000320936:V336I	ENSP00000320936:V336I	V	+	1	0	IL17RA	15966805	0.983000	0.35010	0.422000	0.26621	0.063000	0.16089	1.898000	0.39809	0.599000	0.29845	0.561000	0.74099	GTC		0.607	IL17RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315820.1	NM_014339	
MYO18B	84700	broad.mit.edu	37	22	26159232	26159232	+	Missense_Mutation	SNP	C	C	T	rs79294358	byFrequency	TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:26159232C>T	ENST00000407587.2	+	3	243	c.74C>T	c.(73-75)tCg>tTg	p.S25L	MYO18B_ENST00000536101.1_Missense_Mutation_p.S25L|MYO18B_ENST00000335473.7_Missense_Mutation_p.S25L			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	25						cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACCATCCTCGCCCCCTCCT	0.542													C|||	8	0.00159744	0.0	0.0	5008	,	,		19700	0.0079		0.0	False		,,,				2504	0.0					uc003abz.1																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(73-75)tCg>tTg		Homo sapiens myosin XVIIIB (MYO18B), mRNA.		C	LEU/SER	1,3793		0,1,1896	37.0	40.0	39.0		74	5.1	1.0	22	dbSNP_131	39	0,8220		0,0,4110	yes	missense	MYO18B	NM_032608.5	145	0,1,6006	TT,TC,CC		0.0,0.0264,0.0083	probably-damaging	25/2568	26159232	1,12013	1897	4110	6007	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26159232C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.74C>T	22.37:g.26159232C>T	ENSP00000386096:p.Ser25Leu					MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR	p.S25L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN			2	324	+			25					B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.74C>T		4	0.0018315018315018315	0	0.0	0	0.0	4	0.006993006993006993	0	0.0	C	18.38	3.611027	0.66558	2.64E-4	0.0	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87650	-2.26;-2.26;-2.28	5.09	5.09	0.68999	.	0.000000	0.35013	N	0.003502	D	0.89942	0.6861	M	0.65975	2.015	0.33899	D	0.638286	D	0.89917	1.0	D	0.72338	0.977	D	0.93595	0.6925	10	0.87932	D	0	.	15.5718	0.76345	0.0:1.0:0.0:0.0	.	25	F5GYU7	.	L	25	ENSP00000441229:S25L;ENSP00000334563:S25L;ENSP00000386096:S25L	ENSP00000334563:S25L	S	+	2	0	MYO18B	24489232	0.995000	0.38212	1.000000	0.80357	0.392000	0.30506	4.291000	0.59025	2.531000	0.85337	0.467000	0.42956	TCG		0.542	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608	
FAM109B	150368	broad.mit.edu	37	22	42473575	42473575	+	Missense_Mutation	SNP	C	C	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:42473575C>G	ENST00000321753.3	+	3	465	c.278C>G	c.(277-279)gCc>gGc	p.A93G	snoU13_ENST00000458891.1_RNA|SMDT1_ENST00000331479.3_5'Flank	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	93	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						TGCTTTGATGCCCCTGGAGTG	0.682																																						uc003bbz.3																			0				endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						c.(277-279)gCc>gGc		Homo sapiens family with sequence similarity 109, member B (FAM109B), mRNA.							78.0	82.0	80.0					22																	42473575		2203	4300	6503	SO:0001583	missense	150368				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity	g.chr22:42473575C>G	BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"""Pleckstrin homology (PH) domain containing"""	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.278C>G	22.37:g.42473575C>G	ENSP00000312753:p.Ala93Gly					FAM109B_uc021wqi.1_Missense_Mutation_p.A93G|C22orf32_uc003bca.3_5'Flank	p.A93G	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN			2	465	+			93			PH.		Q3SXQ3|Q8N6L9	Missense_Mutation	SNP	ENST00000321753.3	37	c.278C>G	CCDS33655.1	.	.	.	.	.	.	.	.	.	.	C	2.993	-0.207759	0.06180	.	.	ENSG00000177096	ENST00000321753;ENST00000419475	T;T	0.75154	-0.91;-0.91	5.01	1.44	0.22558	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.459233	0.24054	N	0.041975	T	0.25827	0.0629	N	0.00182	-1.905	0.30652	N	0.755347	B	0.12013	0.005	B	0.12156	0.007	T	0.45396	-0.9264	10	0.02654	T	1	-13.4868	2.2003	0.03921	0.1386:0.3395:0.339:0.1829	.	93	Q6ICB4	SESQ2_HUMAN	G	93	ENSP00000312753:A93G;ENSP00000396170:A93G	ENSP00000312753:A93G	A	+	2	0	FAM109B	40803521	0.999000	0.42202	0.993000	0.49108	0.113000	0.19764	3.131000	0.50515	0.994000	0.38892	-0.345000	0.07892	GCC		0.682	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322084.1	NM_001002034	
CNTN6	27255	broad.mit.edu	37	3	1339608	1339608	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:1339608C>T	ENST00000446702.2	+	7	1321	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	CNTN6_ENST00000350110.2_Missense_Mutation_p.R232C|CNTN6_ENST00000539053.1_Missense_Mutation_p.R160C			Q9UQ52	CNTN6_HUMAN	contactin 6	232	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GATTGAAGTGCGTTTTCCTGA	0.358																																						uc003boz.3																			0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(694-696)Cgt>Tgt		Homo sapiens contactin 6 (CNTN6), mRNA.							130.0	137.0	134.0					3																	1339608		2203	4300	6503	SO:0001583	missense	27255				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		g.chr3:1339608C>T	AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.694C>T	3.37:g.1339608C>T	ENSP00000407822:p.Arg232Cys					CNTN6_uc010hbo.2_Missense_Mutation_p.R227C|CNTN6_uc011asj.2_Missense_Mutation_p.R160C|CNTN6_uc003bpa.3_Missense_Mutation_p.R232C	p.R232C	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)	6	961	+		all_cancers(2;0.000164)|all_epithelial(2;0.107)	232			Ig-like C2-type 3.		Q2KHM2	Missense_Mutation	SNP	ENST00000446702.2	37	c.694C>T	CCDS2557.1	.	.	.	.	.	.	.	.	.	.	C	16.41	3.115426	0.56505	.	.	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.79033	-1.23;-1.23;-1.23	4.95	4.95	0.65309	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000011	D	0.87224	0.6124	M	0.78916	2.43	0.51012	D	0.999904	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.88444	0.3044	10	0.72032	D	0.01	.	13.1764	0.59629	0.1597:0.8403:0.0:0.0	.	160;232	B4DGV0;Q9UQ52	.;CNTN6_HUMAN	C	232;160;232	ENSP00000407822:R232C;ENSP00000442791:R160C;ENSP00000341882:R232C	ENSP00000341882:R232C	R	+	1	0	CNTN6	1314608	0.987000	0.35691	1.000000	0.80357	0.999000	0.98932	4.531000	0.60602	2.443000	0.82685	0.650000	0.86243	CGT		0.358	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239235.2	NM_014461	
FBLN2	2199	broad.mit.edu	37	3	13613045	13613045	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:13613045C>A	ENST00000295760.7	+	2	1259	c.1190C>A	c.(1189-1191)gCc>gAc	p.A397D	FBLN2_ENST00000492059.1_Missense_Mutation_p.A397D|FBLN2_ENST00000535798.1_Missense_Mutation_p.A423D|FBLN2_ENST00000404922.3_Missense_Mutation_p.A397D	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	397	N.|Subdomain NB (Cys-free).				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCTGATGCAGCCTGGATCCCA	0.622																																						uc011avc.2																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24						c.(1189-1191)gCc>gAc		Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.							33.0	43.0	40.0					3																	13613045		2118	4211	6329	SO:0001583	missense	2199					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	g.chr3:13613045C>A	X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.1190C>A	3.37:g.13613045C>A	ENSP00000295760:p.Ala397Asp					FBLN2_uc011auz.2_Missense_Mutation_p.A423D|FBLN2_uc011avb.2_Missense_Mutation_p.A397D|FBLN2_uc011ava.2_Missense_Mutation_p.A397D	p.A397D	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)		1	1572	+			397			N.|Subdomain NB (Cys-free).		B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	c.1190C>A	CCDS46762.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.758011	0.31137	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.80123	-1.34;-1.28;-1.25;-1.28	4.67	3.78	0.43462	.	1.209840	0.05774	N	0.607399	T	0.76234	0.3959	L	0.27053	0.805	0.09310	N	1	B;P;P	0.46912	0.242;0.886;0.859	B;P;P	0.48270	0.109;0.572;0.491	T	0.66069	-0.6015	10	0.66056	D	0.02	.	6.8003	0.23748	0.2252:0.6783:0.0:0.0964	.	397;397;423	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	D	423;397;397;397	ENSP00000445705:A423D;ENSP00000384169:A397D;ENSP00000295760:A397D;ENSP00000420042:A397D	ENSP00000295760:A397D	A	+	2	0	FBLN2	13588046	0.005000	0.15991	0.005000	0.12908	0.001000	0.01503	1.970000	0.40520	2.319000	0.78375	0.650000	0.86243	GCC		0.622	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	
TRH	7200	broad.mit.edu	37	3	129696024	129696024	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:129696024C>T	ENST00000302649.3	+	3	1221	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	TRH_ENST00000507066.1_Missense_Mutation_p.R228W	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	232					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCCTGGTCGGCGGGCAGCCTG	0.622																																					Esophageal Squamous(60;321 1330 17401 41911)	uc003enc.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(694-696)Cgg>Tgg		Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.							20.0	22.0	21.0					3																	129696024		2199	4275	6474	SO:0001583	missense	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129696024C>T		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.694C>T	3.37:g.129696024C>T	ENSP00000303452:p.Arg232Trp						p.R232W	NM_007117	NP_009048	P20396	TRH_HUMAN			2	1255	+			232					B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	c.694C>T	CCDS3066.1	.	.	.	.	.	.	.	.	.	.	C	3.576	-0.086530	0.07097	.	.	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.57907	0.37;0.37	4.42	-4.42	0.03579	.	0.302445	0.35013	N	0.003517	T	0.28599	0.0708	L	0.28400	0.85	0.09310	N	0.999998	B	0.11235	0.004	B	0.06405	0.002	T	0.05699	-1.0869	10	0.56958	D	0.05	-6.4951	2.0188	0.03504	0.502:0.2058:0.1237:0.1686	.	232	P20396	TRH_HUMAN	W	232;228	ENSP00000303452:R232W;ENSP00000426522:R228W	ENSP00000303452:R232W	R	+	1	2	TRH	131178714	0.638000	0.27225	0.002000	0.10522	0.002000	0.02628	-0.021000	0.12504	-0.671000	0.05274	-1.283000	0.01379	CGG		0.622	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117	
HLTF	6596	broad.mit.edu	37	3	148768105	148768105	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:148768105C>T	ENST00000310053.5	-	15	1724	c.1531G>A	c.(1531-1533)Ggt>Agt	p.G511S	HLTF_ENST00000392912.2_Missense_Mutation_p.G511S|HLTF_ENST00000494055.1_Missense_Mutation_p.G511S|HLTF_ENST00000465259.1_Missense_Mutation_p.G510S	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	511	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CGATCAGGACCATAATAAACA	0.299																																						uc003ewq.1																			0				breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47						c.(1531-1533)Ggt>Agt		Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.							68.0	70.0	69.0					3																	148768105		2202	4291	6493	SO:0001583	missense	6596				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	g.chr3:148768105C>T	L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.1531G>A	3.37:g.148768105C>T	ENSP00000308944:p.Gly511Ser					HLTF_uc003ewr.1_Missense_Mutation_p.G511S|HLTF_uc003ews.1_Missense_Mutation_p.G510S|HLTF_uc010hve.1_Missense_Mutation_p.G510S	p.G511S	NM_139048	NP_620636	Q14527	HLTF_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		14	1749	-			511			Helicase ATP-binding.		D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Missense_Mutation	SNP	ENST00000310053.5	37	c.1531G>A	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	35	5.555394	0.96514	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055	D;D;D;D	0.95482	-3.72;-3.72;-3.72;-3.72	5.75	5.75	0.90469	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.97794	0.9276	M	0.80508	2.5	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98276	1.0506	9	0.87932	D	0	0.046	18.709	0.91649	0.0:1.0:0.0:0.0	.	511;511;511	Q59GQ7;A8K5B6;Q14527	.;.;HLTF_HUMAN	S	510;511;511;511	ENSP00000420745:G510S;ENSP00000308944:G511S;ENSP00000376644:G511S;ENSP00000420429:G511S	ENSP00000308944:G511S	G	-	1	0	HLTF	150250795	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.780000	0.75063	2.717000	0.92951	0.650000	0.86243	GGT		0.299	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1		
ASIC5	51802	broad.mit.edu	37	4	156764907	156764907	+	Missense_Mutation	SNP	C	C	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr4:156764907C>A	ENST00000537611.2	-	5	833	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L		NM_017419.2	NP_059115.1	Q9NY37	ASIC5_HUMAN	acid-sensing (proton-gated) ion channel family member 5	263					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrogen ion channel activity (GO:0015252)|ligand-gated sodium channel activity (GO:0015280)										AACTGTGGCACCTTCTTTGGT	0.453																																						uc003ipe.1																			0											c.(787-789)Gtg>Ttg		Homo sapiens amiloride-sensitive cation channel 5, intestinal (ACCN5), mRNA.							159.0	129.0	139.0					4																	156764907		2203	4300	6503	SO:0001583	missense	51802					integral to membrane|plasma membrane		g.chr4:156764907C>A	AJ252011	CCDS3793.1	4q32.1	2012-10-03	2012-03-02	2012-03-02	ENSG00000256394	ENSG00000256394			17537	protein-coding gene	gene with protein product			"""amiloride-sensitive cation channel 5, intestinal"""	ACCN5		10767424	Standard	NM_017419		Approved	INAC, HINAC	uc003ipe.1	Q9NY37	OTTHUMG00000161941	ENST00000537611.2:c.787G>T	4.37:g.156764907C>A	ENSP00000442477:p.Val263Leu						p.V263L	NM_017419	NP_059115	Q9NY37	ACCN5_HUMAN			4	834	-			263						Missense_Mutation	SNP	ENST00000537611.2	37	c.787G>T	CCDS3793.1	.	.	.	.	.	.	.	.	.	.	C	8.233	0.805111	0.16467	.	.	ENSG00000256394	ENST00000537611	T	0.63580	-0.05	4.58	3.65	0.41850	.	1.008870	0.07962	N	0.982509	T	0.47619	0.1455	L	0.35414	1.06	0.22171	N	0.999314	B	0.02656	0.0	B	0.15052	0.012	T	0.32719	-0.9896	10	0.11485	T	0.65	0.0049	7.6183	0.28171	0.0:0.5333:0.3677:0.099	.	263	Q9NY37	ACCN5_HUMAN	L	263	ENSP00000442477:V263L	ENSP00000264432:V263L	V	-	1	0	ACCN5	156984357	0.992000	0.36948	0.975000	0.42487	0.303000	0.27691	1.242000	0.32755	2.492000	0.84095	0.591000	0.81541	GTG		0.453	ASIC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366464.1		
TAS2R1	50834	broad.mit.edu	37	5	9629468	9629468	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:9629468G>A	ENST00000382492.2	-	1	995	c.677C>T	c.(676-678)gCg>gTg	p.A226V	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	226					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGACAGCAACGCGCTGATGGG	0.498																																						uc003jem.1																			0		p.A226S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						c.(676-678)gCg>gTg		Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.							64.0	72.0	70.0					5																	9629468		2203	4300	6503	SO:0001583	missense	50834				chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	g.chr5:9629468G>A	AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.677C>T	5.37:g.9629468G>A	ENSP00000371932:p.Ala226Val						p.A226V	NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN			0	996	-			226					Q646G8	Missense_Mutation	SNP	ENST00000382492.2	37	c.677C>T	CCDS3876.1	.	.	.	.	.	.	.	.	.	.	G	19.36	3.811842	0.70797	.	.	ENSG00000169777	ENST00000382492	T	0.01422	4.91	5.55	5.55	0.83447	.	0.147373	0.43919	D	0.000501	T	0.09069	0.0224	M	0.89095	3.005	0.09310	N	1	D	0.89917	1.0	D	0.68621	0.959	T	0.08249	-1.0731	9	.	.	.	.	10.2602	0.43423	0.0868:0.0:0.9132:0.0	.	226	Q9NYW7	TA2R1_HUMAN	V	226	ENSP00000371932:A226V	.	A	-	2	0	TAS2R1	9682468	0.033000	0.19621	0.008000	0.14137	0.001000	0.01503	2.375000	0.44283	2.894000	0.99253	0.655000	0.94253	GCG		0.498	TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2		
ITGA2	3673	broad.mit.edu	37	5	52344242	52344242	+	Missense_Mutation	SNP	C	C	T	rs148042733		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:52344242C>T	ENST00000296585.5	+	5	580	c.437C>T	c.(436-438)aCg>aTg	p.T146M		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	146					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell proliferation (GO:0008283)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular response to hormone stimulus (GO:0032870)|collagen-activated signaling pathway (GO:0038065)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|hepatocyte differentiation (GO:0070365)|hypotonic response (GO:0006971)|integrin-mediated signaling pathway (GO:0007229)|mammary gland development (GO:0030879)|mesodermal cell differentiation (GO:0048333)|organ morphogenesis (GO:0009887)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell projection organization (GO:0031346)|positive regulation of collagen binding (GO:0033343)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA binding (GO:0043388)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|response to amine (GO:0014075)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|response to L-ascorbic acid (GO:0033591)|response to muscle activity (GO:0014850)|response to organic cyclic compound (GO:0014070)|skin morphogenesis (GO:0043589)|substrate-dependent cell migration (GO:0006929)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	axon terminus (GO:0043679)|basal part of cell (GO:0045178)|cell outer membrane (GO:0009279)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integrin alpha2-beta1 complex (GO:0034666)|integrin complex (GO:0008305)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|collagen receptor activity (GO:0038064)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TATTACACAACGGGTGTGTGT	0.438																																						uc003joy.3																			0				breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(436-438)aCg>aTg		Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.		C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	168.0	159.0	162.0		437	4.4	1.0	5	dbSNP_134	162	0,8600		0,0,4300	no	missense	ITGA2	NM_002203.3	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	146/1182	52344242	1,13005	2203	4300	6503	SO:0001583	missense	3673				axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity	g.chr5:52344242C>T		CCDS3957.1	5q11.2	2010-03-23			ENSG00000164171	ENSG00000164171		"""CD molecules"", ""Integrins"""	6137	protein-coding gene	gene with protein product		192974		CD49B			Standard	NM_002203		Approved	CD49b	uc003joy.3	P17301	OTTHUMG00000131165	ENST00000296585.5:c.437C>T	5.37:g.52344242C>T	ENSP00000296585:p.Thr146Met					ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.T70M|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	p.T146M	NM_002203	NP_002194	P17301	ITA2_HUMAN			4	580	+		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)	146					Q14595	Missense_Mutation	SNP	ENST00000296585.5	37	c.437C>T	CCDS3957.1	.	.	.	.	.	.	.	.	.	.	C	19.44	3.828806	0.71258	2.27E-4	0.0	ENSG00000164171	ENST00000296585	D	0.92545	-3.06	5.34	4.42	0.53409	.	0.055807	0.64402	D	0.000001	D	0.95544	0.8552	M	0.79475	2.455	0.49483	D	0.999791	D;D	0.89917	1.0;1.0	D;D	0.75020	0.985;0.971	D	0.95889	0.8905	10	0.87932	D	0	.	14.7785	0.69749	0.145:0.855:0.0:0.0	.	146;146	E7ESP4;P17301	.;ITA2_HUMAN	M	146	ENSP00000296585:T146M	ENSP00000296585:T146M	T	+	2	0	ITGA2	52379999	1.000000	0.71417	0.951000	0.38953	0.701000	0.40568	5.666000	0.68059	2.482000	0.83794	0.557000	0.71058	ACG		0.438	ITGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253857.2	NM_002203	
ACTBL2	345651	broad.mit.edu	37	5	56778423	56778423	+	Missense_Mutation	SNP	G	G	A	rs78342986	byFrequency	TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:56778423G>A	ENST00000423391.1	-	1	213	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	AC025470.1_ENST00000584598.1_RNA|CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	38						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.R38C(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		TGTCGAGGACGCCCTATCATG	0.592																																						uc003jrm.3																			2	Substitution - Missense(2)	p.R38C(4)	large_intestine(1)|lung(1)	breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28						c.(112-114)Cgt>Tgt		Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.							84.0	58.0	67.0					5																	56778423		2203	4300	6503	SO:0001583	missense	345651					cytoplasm|cytoskeleton	ATP binding	g.chr5:56778423G>A		CCDS34163.1	5q11.2	2014-08-08			ENSG00000169067	ENSG00000169067			17780	protein-coding gene	gene with protein product		614835					Standard	NM_001017992		Approved	DKFZp686D0972	uc003jrm.3	Q562R1	OTTHUMG00000162330	ENST00000423391.1:c.112C>T	5.37:g.56778423G>A	ENSP00000416706:p.Arg38Cys						p.R38C	NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)	0	214	-		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)	38					B2RPJ1|Q562R2|Q562S9|Q562X8	Missense_Mutation	SNP	ENST00000423391.1	37	c.112C>T	CCDS34163.1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186492	0.38609	.	.	ENSG00000169067	ENST00000423391	D	0.92149	-2.98	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000004	D	0.94000	0.8078	M	0.91354	3.2	0.80722	D	1	B	0.33103	0.397	B	0.35859	0.212	D	0.94452	0.7668	10	0.87932	D	0	.	16.1712	0.81817	0.0:0.0:1.0:0.0	.	38	Q562R1	ACTBL_HUMAN	C	38	ENSP00000416706:R38C	ENSP00000416706:R38C	R	-	1	0	ACTBL2	56814180	1.000000	0.71417	0.993000	0.49108	0.918000	0.54935	5.240000	0.65378	2.669000	0.90835	0.563000	0.77884	CGT		0.592	ACTBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368579.1	NM_001017992	
ARHGEF28	64283	broad.mit.edu	37	5	73148496	73148496	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:73148496C>T	ENST00000426542.2	+	13	1789	c.1769C>T	c.(1768-1770)tCg>tTg	p.S590L	ARHGEF28_ENST00000545377.1_Missense_Mutation_p.S590L|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.S590L|ARHGEF28_ENST00000296794.6_Missense_Mutation_p.S590L|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.S277L|ARHGEF28_ENST00000437974.1_Missense_Mutation_p.S590L|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.S590L			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	590					central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TACAGCTTATCGGAGCCACCA	0.378																																						uc010izf.3																			0											c.(1768-1770)tCg>tTg		Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.							172.0	162.0	165.0					5																	73148496		1873	4110	5983	SO:0001583	missense	64283				cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding	g.chr5:73148496C>T		CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.1769C>T	5.37:g.73148496C>T	ENSP00000412175:p.Ser590Leu					RGNEF_uc011csq.2_Missense_Mutation_p.S590L|RGNEF_uc003kcy.1_3'UTR|RGNEF_uc021yam.1_Missense_Mutation_p.S590L|RGNEF_uc011csr.2_Missense_Mutation_p.S277L	p.S590L	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)	13	1945	+		Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)	590					B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	ENST00000426542.2	37	c.1769C>T	CCDS54870.1	.	.	.	.	.	.	.	.	.	.	C	9.464	1.093865	0.20471	.	.	ENSG00000214944	ENST00000296794;ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799	T;T;T;T;T;T;T	0.10477	3.12;3.12;3.12;2.87;3.12;3.12;2.95	6.17	3.36	0.38483	.	.	.	.	.	T	0.07999	0.0200	N	0.19112	0.55	0.09310	N	1	B;B;B;B	0.14438	0.01;0.006;0.006;0.01	B;B;B;B	0.08055	0.002;0.002;0.002;0.003	T	0.31392	-0.9945	9	0.49607	T	0.09	.	10.2189	0.43186	0.2411:0.6948:0.0:0.0641	.	277;590;590;590	B5MDA3;Q8N1W1;E9PC75;Q8N1W1-4	.;RGNEF_HUMAN;.;.	L	590;590;590;590;590;590;277	ENSP00000296794:S590L;ENSP00000441913:S590L;ENSP00000441436:S590L;ENSP00000287898:S590L;ENSP00000411459:S590L;ENSP00000412175:S590L;ENSP00000296799:S277L	ENSP00000287898:S590L	S	+	2	0	RP11-428C6.1	73184252	0.049000	0.20398	0.046000	0.18839	0.212000	0.24457	1.594000	0.36697	0.430000	0.26230	0.655000	0.94253	TCG		0.378	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000368975.1		
SLC27A6	28965	broad.mit.edu	37	5	128368954	128368954	+	Missense_Mutation	SNP	G	G	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:128368954G>T	ENST00000262462.4	+	10	2849	c.1839G>T	c.(1837-1839)atG>atT	p.M613I	SLC27A6_ENST00000506176.1_Missense_Mutation_p.M613I|SLC27A6_ENST00000395266.1_Missense_Mutation_p.M613I			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	613					long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty acid transport (GO:0015909)|transmembrane transport (GO:0055085)|very long-chain fatty acid metabolic process (GO:0000038)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	long-chain fatty acid-CoA ligase activity (GO:0004467)|nucleotide binding (GO:0000166)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATCAAATAATGTTAGGGGAAA	0.318																																						uc003kuy.3																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44						c.(1837-1839)atG>atT		Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.							42.0	43.0	43.0					5																	128368954		2203	4295	6498	SO:0001583	missense	28965				long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding	g.chr5:128368954G>T	AF064254	CCDS4145.1	5q23.3	2013-05-22			ENSG00000113396	ENSG00000113396		"""Acyl-CoA synthetase family"", ""Solute carriers"""	11000	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 2"""	604196				12556534, 10479480	Standard	XM_005271967		Approved	FATP6, VLCS-H1, FACVL2, ACSVL2	uc003kuy.3	Q9Y2P4	OTTHUMG00000128991	ENST00000262462.4:c.1839G>T	5.37:g.128368954G>T	ENSP00000262462:p.Met613Ile					SLC27A6_uc003kuz.3_Missense_Mutation_p.M613I	p.M613I	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)	10	2235	+		all_cancers(142;0.0483)|Prostate(80;0.055)	613					Q6IAM5|Q7Z6E6|Q86YF6	Missense_Mutation	SNP	ENST00000262462.4	37	c.1839G>T	CCDS4145.1	.	.	.	.	.	.	.	.	.	.	G	0.620	-0.821385	0.02755	.	.	ENSG00000113396	ENST00000262462;ENST00000395266;ENST00000506176	T;T;T	0.51574	0.7;0.7;0.7	4.17	-5.39	0.02664	.	0.968583	0.08592	N	0.922781	T	0.20700	0.0498	N	0.04090	-0.28	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.31530	-0.9940	9	.	.	.	-2.8198	10.527	0.44954	0.7255:0.0:0.1634:0.1111	.	613	Q9Y2P4	S27A6_HUMAN	I	613	ENSP00000262462:M613I;ENSP00000378684:M613I;ENSP00000421024:M613I	.	M	+	3	0	SLC27A6	128396853	0.000000	0.05858	0.001000	0.08648	0.849000	0.48306	-1.664000	0.01966	-1.340000	0.02227	0.585000	0.79938	ATG		0.318	SLC27A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250980.1	NM_014031	
HLA-DOA	3111	broad.mit.edu	37	6	32975124	32975124	+	Missense_Mutation	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:32975124G>A	ENST00000229829.5	-	3	652	c.577C>T	c.(577-579)Cac>Tac	p.H193Y	HLA-DOA_ENST00000450833.2_Missense_Mutation_p.H163Y|HLA-DOA_ENST00000495532.1_5'Flank	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	193	Alpha-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)|regulation of T cell differentiation (GO:0045580)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)	MHC class II protein complex binding (GO:0023026)|MHC class II receptor activity (GO:0032395)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGGCCCCAGTGCTCCACCTGG	0.597																																						uc003ocr.3																			0		p.H193Q(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						c.(577-579)Cac>Tac		Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.							100.0	114.0	109.0					6																	32975124		1511	2709	4220	SO:0001583	missense	3111				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	g.chr6:32975124G>A	M31525	CCDS4763.1	6p21.3	2013-01-11		2001-10-05	ENSG00000204252	ENSG00000204252		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4936	protein-coding gene	gene with protein product		142930		HLA-DZA, HLA-DNA		2370084	Standard	XM_005272804		Approved	HLA-D0-alpha	uc003ocr.3	P06340	OTTHUMG00000031211	ENST00000229829.5:c.577C>T	6.37:g.32975124G>A	ENSP00000229829:p.His193Tyr					HLA-DOA_uc010juj.3_Missense_Mutation_p.H163Y|HLA-DOA_uc010jui.3_Missense_Mutation_p.H193Y	p.H193Y	NM_002119	NP_002110	P06340	DOA_HUMAN			2	653	-			193			Alpha-2.|Ig-like C1-type.		Q58HU0|Q58HU1|Q5STC7|Q9TQC6|Q9TQC7|Q9TQC8|Q9TQC9|Q9TQD0|Q9TQD1|Q9TQD2|Q9TQD3	Missense_Mutation	SNP	ENST00000229829.5	37	c.577C>T	CCDS4763.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.511126	0.85389	.	.	ENSG00000204252	ENST00000229829;ENST00000450833	T;T	0.06218	3.33;3.33	4.51	4.51	0.55191	Immunoglobulin/major histocompatibility complex, conserved site (1);Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.32164	0.0820	H	0.97659	4.05	0.51482	D	0.999928	D;D	0.89917	0.999;1.0	D;D	0.97110	0.996;1.0	T	0.53725	-0.8398	10	0.87932	D	0	.	15.1456	0.72647	0.0:0.0:1.0:0.0	.	163;193	B4DW77;P06340	.;DOA_HUMAN	Y	193;163	ENSP00000229829:H193Y;ENSP00000403896:H163Y	ENSP00000229829:H193Y	H	-	1	0	HLA-DOA	33083102	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.320000	0.65841	2.501000	0.84356	0.650000	0.86243	CAC		0.597	HLA-DOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076426.2	NM_002119	
VPS52	6293	broad.mit.edu	37	6	33238055	33238055	+	Silent	SNP	A	A	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:33238055A>C	ENST00000445902.2	-	2	314	c.96T>G	c.(94-96)ggT>ggG	p.G32G	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000436044.2_5'UTR|RPS18_ENST00000474973.1_5'Flank|RPS18_ENST00000439602.2_5'Flank	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	32					ectodermal cell differentiation (GO:0010668)|embryonic ectodermal digestive tract development (GO:0048611)|protein transport (GO:0015031)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GCCCAGGACCACCCGCCTGGA	0.483																																						uc003odm.1																			0		p.A31A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						c.(94-96)ggT>ggG		Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.							70.0	75.0	73.0					6																	33238055		2203	4300	6503	SO:0001819	synonymous_variant	6293				protein transport	endosome membrane|Golgi apparatus		g.chr6:33238055A>C	AJ223319	CCDS4770.2	6p21.3	2010-02-17	2006-12-19	2003-09-05	ENSG00000223501	ENSG00000223501			10518	protein-coding gene	gene with protein product		603443	"""SAC2 suppressor of actin mutations 2-like (yeast)"", ""vacuolar protein sorting 52 (yeast)"""	SACM2L		9790748	Standard	NM_022553		Approved	ARE1	uc003odm.1	Q8N1B4	OTTHUMG00000031276	ENST00000445902.2:c.96T>G	6.37:g.33238055A>C						VPS52_uc003odn.1_5'UTR|VPS52_uc003odo.1_5'UTR|VPS52_uc011dqy.1_5'UTR|VPS52_uc011dqz.1_5'UTR|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	p.G32G	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN			1	306	-			32					A2BF38|B0UZZ4|B4DNI9|Q53GR4|Q5JPA0|Q5SQW1|Q8IUN6|Q9NPT5	Silent	SNP	ENST00000445902.2	37	c.96T>G	CCDS4770.2																																																																																				0.483	VPS52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076598.2	NM_022553	
TBX18	9096	broad.mit.edu	37	6	85446874	85446874	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:85446874C>T	ENST00000369663.5	-	8	1690	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	TBX18_ENST00000606784.1_Intron	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	451					anterior/posterior axis specification (GO:0009948)|cochlea morphogenesis (GO:0090103)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060829)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of mesenchymal cell proliferation involved in ureter development (GO:2000729)|sensory perception of sound (GO:0007605)|sinoatrial node development (GO:0003163)|smooth muscle cell differentiation (GO:0051145)|somitogenesis (GO:0001756)|ureter development (GO:0072189)	nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GAGTCCTGGGCGGGGCAAAGG	0.612																																						uc003pkl.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61						c.(1351-1353)ccG>ccA		Homo sapiens T-box 18 (TBX18), mRNA.							96.0	87.0	90.0					6																	85446874		2203	4300	6503	SO:0001819	synonymous_variant	9096				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:85446874C>T	AJ010278	CCDS34495.1	6q14.1-q15	2012-12-19			ENSG00000112837	ENSG00000112837		"""T-boxes"""	11595	protein-coding gene	gene with protein product		604613				9888994, 16688725, 23242162	Standard	NM_001080508		Approved		uc003pkl.2	O95935	OTTHUMG00000015129	ENST00000369663.5:c.1353G>A	6.37:g.85446874C>T						TBX18_uc010kbq.2_Intron	p.P451P	NM_001080508	NP_001073977	O95935	TBX18_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0267)	7	1353	-		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)	451					A2RU13|Q7Z6U4|Q9UJI6	Silent	SNP	ENST00000369663.5	37	c.1353G>A	CCDS34495.1																																																																																				0.612	TBX18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041378.2	NM_001080508	
TPD52L1	7164	broad.mit.edu	37	6	125541243	125541243	+	Silent	SNP	G	G	A	rs368146966		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:125541243G>A	ENST00000534000.1	+	2	335	c.39G>A	c.(37-39)ccG>ccA	p.P13P	TPD52L1_ENST00000304877.13_Silent_p.P13P|TPD52L1_ENST00000534199.1_De_novo_Start_InFrame|TPD52L1_ENST00000527711.1_Silent_p.P13P|TPD52L1_ENST00000368388.2_Silent_p.P13P|HDDC2_ENST00000608456.1_5'UTR|TPD52L1_ENST00000524679.1_De_novo_Start_InFrame|TPD52L1_ENST00000392482.2_De_novo_Start_InFrame|TPD52L1_ENST00000368402.5_Silent_p.P13P|TPD52L1_ENST00000528193.1_Silent_p.P13P|TPD52L1_ENST00000532429.1_De_novo_Start_InFrame	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	13					G2/M transition of mitotic cell cycle (GO:0000086)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		AGACTGAACCGTTGCAAGGAA	0.413																																						uc003pzu.1																			0				endometrium(2)|large_intestine(2)|prostate(1)	5						c.(37-39)ccG>ccA		Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA.		A	,,,	2,4404	826.0+/-416.6	0,2,2201	126.0	124.0	125.0		,39,39,39	-0.3	0.0	6		125	0,8600		0,0,4300	no	utr-5,coding-synonymous,coding-synonymous,coding-synonymous	TPD52L1	NM_001003395.1,NM_001003396.1,NM_001003397.1,NM_003287.2	,,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,,	,13/145,13/132,13/205	125541243	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7164				DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity	g.chr6:125541243G>A	U44427	CCDS5130.1, CCDS34527.1, CCDS34528.1, CCDS43502.1, CCDS75513.1, CCDS75514.1	6q22-q23	2008-07-29			ENSG00000111907	ENSG00000111907			12006	protein-coding gene	gene with protein product		604069				8812487, 16112108	Standard	NM_003287		Approved	D53, hD53	uc003pzu.1	Q16890	OTTHUMG00000015505	ENST00000534000.1:c.39G>A	6.37:g.125541243G>A						TPD52L1_uc003pzv.1_Silent_p.P13P|TPD52L1_uc003pzw.1_Silent_p.P13P|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	p.P13P	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)	1	258	+			13					A8K757|A8K772|A8MUD2|A8MUJ7|A8MW70|F6V707|O43397|Q5TC99|Q5TDQ0|Q9BUQ6|Q9C054	Silent	SNP	ENST00000534000.1	37	c.39G>A	CCDS5130.1																																																																																				0.413	TPD52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042065.2		
SYNJ2	8871	broad.mit.edu	37	6	158454502	158454502	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:158454502C>T	ENST00000355585.4	+	4	576	c.501C>T	c.(499-501)caC>caT	p.H167H	SYNJ2_ENST00000367121.3_Silent_p.H167H|SYNJ2_ENST00000449859.2_Silent_p.H116H|SYNJ2_ENST00000367122.2_Silent_p.H167H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	167	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGCTGTTGCACGTGCCCTTGA	0.572																																						uc003qqx.2																			0				biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(499-501)caC>caT		Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.							105.0	78.0	87.0					6																	158454502		2203	4300	6503	SO:0001819	synonymous_variant	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158454502C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.501C>T	6.37:g.158454502C>T						SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Silent_p.H167H|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_Silent_p.H116H|SYNJ2_uc010kjo.1_Silent_p.H116H	p.H167H	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	3	607	+			167			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	ENST00000355585.4	37	c.501C>T	CCDS5254.1																																																																																				0.572	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
SYNJ2	8871	broad.mit.edu	37	6	158483049	158483049	+	Missense_Mutation	SNP	C	C	T	rs202038099		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:158483049C>T	ENST00000355585.4	+	8	1055	c.980C>T	c.(979-981)gCg>gTg	p.A327V	SYNJ2_ENST00000367121.3_Missense_Mutation_p.A327V|SYNJ2_ENST00000449859.2_Intron|SYNJ2_ENST00000367122.2_Missense_Mutation_p.A327V	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	327	SAC. {ECO:0000255|PROSITE- ProRule:PRU00183}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)	p.A327V(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCTTGCCACGCGGGCGACACG	0.562													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18786	0.0		0.0	False		,,,				2504	0.0					uc003qqx.2																			1	Substitution - Missense(1)	p.A327V(2)	endometrium(1)	biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(979-981)gCg>gTg		Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.							145.0	156.0	152.0					6																	158483049		2203	4300	6503	SO:0001583	missense	8871						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	g.chr6:158483049C>T	AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.980C>T	6.37:g.158483049C>T	ENSP00000347792:p.Ala327Val					SYNJ2_uc011efm.2_Intron|SYNJ2_uc003qqw.2_Missense_Mutation_p.A327V|SYNJ2_uc003qqy.2_Missense_Mutation_p.A90V|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Missense_Mutation_p.A276V|SYNJ2_uc003qqz.2_5'UTR	p.A327V	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)	7	1086	+			327			SAC.		Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Missense_Mutation	SNP	ENST00000355585.4	37	c.980C>T	CCDS5254.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	22.0	4.226226	0.79576	.	.	ENSG00000078269	ENST00000367122;ENST00000367121;ENST00000355585	T;T;T	0.58210	0.35;0.35;0.35	5.12	4.26	0.50523	Synaptojanin, N-terminal (2);	0.094559	0.46442	N	0.000298	T	0.52677	0.1749	L	0.46741	1.465	0.80722	D	1	P;D;D	0.89917	0.801;1.0;1.0	B;D;D	0.91635	0.362;0.999;0.986	T	0.52518	-0.8565	10	0.48119	T	0.1	.	13.6261	0.62165	0.0:0.9251:0.0:0.0749	.	327;327;327	E7ER60;O15056;O15056-3	.;SYNJ2_HUMAN;.	V	327	ENSP00000356089:A327V;ENSP00000356088:A327V;ENSP00000347792:A327V	ENSP00000347792:A327V	A	+	2	0	SYNJ2	158403037	0.995000	0.38212	0.003000	0.11579	0.558000	0.35554	3.235000	0.51328	-0.983000	0.03511	-1.753000	0.00675	GCG		0.562	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042858.2		
AGPAT4	56895	broad.mit.edu	37	6	161587289	161587289	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:161587289C>T	ENST00000320285.4	-	3	551	c.339G>A	c.(337-339)ggG>ggA	p.G113G	AGPAT4_ENST00000366906.5_Silent_p.G51G|AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366905.3_Silent_p.G113G|AGPAT4_ENST00000366908.5_Silent_p.G113G	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	113					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCCCTAACAGCCCAAAGCGTT	0.507																																						uc003qtr.1																			0				endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25						c.(337-339)ggG>ggA		Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.							62.0	53.0	56.0					6																	161587289		2203	4300	6503	SO:0001819	synonymous_variant	56895				phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding	g.chr6:161587289C>T	AF156776	CCDS5280.1	6q25.3	2013-02-05	2013-02-05		ENSG00000026652	ENSG00000026652	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	20885	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, delta"""	614795	"""1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)"""				Standard	XM_005267052		Approved	LPAAT-delta, dJ473J16.2	uc003qtr.1	Q9NRZ5	OTTHUMG00000015966	ENST00000320285.4:c.339G>A	6.37:g.161587289C>T						AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Silent_p.G113G|AGPAT4_uc011egd.1_Silent_p.G51G|AGPAT4_uc011ege.1_Intron	p.G113G	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)	2	566	-		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)	113					B4DSF9|Q5TEF0	Silent	SNP	ENST00000320285.4	37	c.339G>A	CCDS5280.1																																																																																				0.507	AGPAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042983.1	NM_020133	
TYW1	55253	broad.mit.edu	37	7	66532361	66532361	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:66532361G>A	ENST00000359626.5	+	10	1409	c.1245G>A	c.(1243-1245)gcG>gcA	p.A415A		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	415					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|FMN binding (GO:0010181)|iron ion binding (GO:0005506)|lyase activity (GO:0016829)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CGAGCTTGGCGTGTGCTAATA	0.458																																						uc003tvn.3																			0				breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46						c.(1243-1245)gcG>gcA		Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.							164.0	147.0	153.0					7																	66532361		2203	4300	6503	SO:0001819	synonymous_variant	55253				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	g.chr7:66532361G>A	AK001762	CCDS5538.1	7q11.21	2007-11-29	2007-11-29	2007-11-29	ENSG00000198874	ENSG00000198874			25598	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 1 homolog A (S. cerevisiae)"""	611243	"""radical S-adenosyl methionine and flavodoxin domains 1"""	RSAFD1		16162496, 17150819	Standard	NM_018264		Approved	FLJ10900, MGC23001, MGC60291, YPL207W, TYW1A	uc003tvn.4	Q9NV66	OTTHUMG00000129723	ENST00000359626.5:c.1245G>A	7.37:g.66532361G>A						TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Silent_p.A29A	p.A415A	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN			9	1394	+		Lung NSC(55;0.0846)|all_lung(88;0.183)	415					Q6PJG8|Q75MG8|Q75MN3|Q86V12|Q8IVS7|Q9H9C4	Silent	SNP	ENST00000359626.5	37	c.1245G>A	CCDS5538.1																																																																																				0.458	TYW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251932.2	NM_018264	
NYAP1	222950	broad.mit.edu	37	7	100086489	100086489	+	Missense_Mutation	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:100086489C>T	ENST00000300179.2	+	4	1304	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M	NYAP1_ENST00000423930.1_Missense_Mutation_p.T382M|NYAP1_ENST00000454988.1_Missense_Mutation_p.T325M	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	382	Pro-rich.				neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GAGCGGGAGACGCCTCCCCCA	0.706																																						uc003uvd.1																			0											c.(1144-1146)aCg>aTg		Homo sapiens neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1 (NYAP1), mRNA.							17.0	22.0	20.0					7																	100086489		2197	4285	6482	SO:0001583	missense	222950							g.chr7:100086489C>T	AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.1145C>T	7.37:g.100086489C>T	ENSP00000300179:p.Thr382Met					NYAP1_uc003uve.1_Missense_Mutation_p.T164M	p.T382M	NM_173564	NP_775835	Q6ZVC0	CG051_HUMAN			3	1304	+			382			Pro-rich.		Q6U9Y3|Q8N1V0	Missense_Mutation	SNP	ENST00000300179.2	37	c.1145C>T	CCDS5696.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.555516	0.45487	.	.	ENSG00000166924	ENST00000300179;ENST00000423930;ENST00000454988	T;T;T	0.46819	0.86;0.86;0.86	4.75	4.75	0.60458	.	0.000000	0.50627	D	0.000118	T	0.52549	0.1741	L	0.29908	0.895	0.29533	N	0.852638	D;D	0.76494	0.999;0.997	D;P	0.76575	0.988;0.752	T	0.50162	-0.8860	10	0.49607	T	0.09	-11.9051	8.9738	0.35924	0.0:0.8976:0.0:0.1024	.	325;382	C9JS30;Q6ZVC0	.;CG051_HUMAN	M	382;382;325	ENSP00000300179:T382M;ENSP00000411861:T382M;ENSP00000394424:T325M	ENSP00000300179:T382M	T	+	2	0	C7orf51	99924425	0.990000	0.36364	1.000000	0.80357	0.997000	0.91878	1.478000	0.35442	2.180000	0.69256	0.462000	0.41574	ACG		0.706	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2	NM_173564	
RELN	5649	broad.mit.edu	37	7	103341383	103341383	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:103341383C>T	ENST00000428762.1	-	9	1035	c.876G>A	c.(874-876)gcG>gcA	p.A292A	RELN_ENST00000424685.2_Silent_p.A292A|RELN_ENST00000343529.5_Silent_p.A292A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	292					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAATCCAGTCCGCAGAGTTAT	0.358																																					NSCLC(146;835 1944 15585 22231 52158)	uc022ajr.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.(874-876)gcG>gcA		Homo sapiens reelin (RELN), transcript variant 1, mRNA.							113.0	114.0	114.0					7																	103341383		2203	4300	6503	SO:0001819	synonymous_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103341383C>T		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.876G>A	7.37:g.103341383C>T						RELN_uc022ajq.1_Silent_p.A292A|RELN_uc010liz.3_Silent_p.A292A	p.A292A	NM_005045	NP_005036	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	8	1036	-			292					A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	ENST00000428762.1	37	c.876G>A	CCDS47680.1																																																																																				0.358	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	
SPAM1	6677	broad.mit.edu	37	7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A	rs267601263	byFrequency	TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:123595133G>A	ENST00000439500.1	+	5	1650	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q|SPAM1_ENST00000340011.5_Missense_Mutation_p.R346Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q|SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	346					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)	p.R346Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGTATAATGCGAAGTATGGTA	0.338													G|||	3	0.000599042	0.0	0.0	5008	,	,		17337	0.0		0.0	False		,,,				2504	0.0031					uc003vle.3																			2	Substitution - Missense(2)	p.R346Q(3)	kidney(2)	breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1036-1038)cGa>cAa		Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	Hyaluronidase(DB00070)						180.0	178.0	179.0					7																	123595133		2203	4300	6503	SO:0001583	missense	6677				binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	g.chr7:123595133G>A	L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.1037G>A	7.37:g.123595133G>A	ENSP00000402123:p.Arg346Gln					SPAM1_uc011koa.1_Missense_Mutation_p.R2Q|SPAM1_uc003vld.3_Missense_Mutation_p.R346Q|SPAM1_uc022aks.1_Missense_Mutation_p.R346Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R346Q|SPAM1_uc010lku.3_Missense_Mutation_p.R346Q	p.R346Q	NM_003117	NP_003108	P38567	HYALP_HUMAN			3	1476	+			346					Q8TC30	Missense_Mutation	SNP	ENST00000439500.1	37	c.1037G>A	CCDS5791.1	.	.	.	.	.	.	.	.	.	.	G	3.242	-0.155130	0.06544	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	6.02	-5.2	0.02823	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	1.225540	0.05401	N	0.540781	T	0.06917	0.0176	N	0.05574	-0.02	0.09310	N	1	B;B	0.25441	0.126;0.126	B;B	0.19148	0.024;0.024	T	0.30679	-0.9970	10	0.02654	T	1	0.1267	4.9752	0.14136	0.5751:0.0883:0.2412:0.0954	.	346;346	Q8TC30;P38567	.;HYALP_HUMAN	Q	346	ENSP00000386028:R346Q;ENSP00000417934:R346Q;ENSP00000345849:R346Q;ENSP00000402123:R346Q;ENSP00000223028:R346Q	ENSP00000223028:R346Q	R	+	2	0	SPAM1	123382369	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-1.544000	0.02192	-1.001000	0.03434	-0.145000	0.13849	CGA		0.338	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000348309.1		
CHRM2	1129	broad.mit.edu	37	7	136700700	136700700	+	Missense_Mutation	SNP	G	G	A	rs147228075		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:136700700G>A	ENST00000445907.2	+	3	1616	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000592183.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|CHRM2_ENST00000401861.1_Missense_Mutation_p.R363H|hsa-mir-490_ENST00000425981.2_RNA|hsa-mir-490_ENST00000586239.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.R363H|CHRM2_ENST00000402486.3_Missense_Mutation_p.R363H|CHRM2_ENST00000320658.5_Missense_Mutation_p.R363H|CHRM2_ENST00000453373.1_Missense_Mutation_p.R363H	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	363					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	ATTGTAGCCCGCAAGATTGTG	0.468																																						uc003vtf.1																			0		p.A362A(1)|p.A362T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68						c.(1087-1089)cGc>cAc		Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	73.0	77.0	76.0		1088,1088,1088,1088,1088,1088,1088,1088	5.6	1.0	7	dbSNP_134	76	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense,missense,missense	CHRM2	NM_000739.2,NM_001006626.1,NM_001006627.1,NM_001006628.1,NM_001006629.1,NM_001006630.1,NM_001006631.1,NM_001006632.1	29,29,29,29,29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	363/467,363/467,363/467,363/467,363/467,363/467,363/467,363/467	136700700	1,13005	2203	4300	6503	SO:0001583	missense	1129				activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	g.chr7:136700700G>A		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.1088G>A	7.37:g.136700700G>A	ENSP00000399745:p.Arg363His					CHRM2_uc003vtg.1_Missense_Mutation_p.R363H|CHRM2_uc003vti.1_Missense_Mutation_p.R363H|CHRM2_uc003vtm.1_Missense_Mutation_p.R363H|CHRM2_uc003vtj.1_Missense_Mutation_p.R363H|CHRM2_uc003vtk.1_Missense_Mutation_p.R363H|CHRM2_uc003vtl.1_Missense_Mutation_p.R363H|CHRM2_uc003vtn.1_Missense_Mutation_p.R363H|CHRM2_uc003vto.1_Missense_Mutation_p.R363H|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.R363H	p.R363H	NM_001006630	NP_001006633	P08172	ACM2_HUMAN			3	1711	+			363					Q4VBK6|Q9P1X9	Missense_Mutation	SNP	ENST00000445907.2	37	c.1088G>A	CCDS5843.1	.	.	.	.	.	.	.	.	.	.	G	18.98	3.738046	0.69304	2.27E-4	0.0	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1;-0.1	5.55	5.55	0.83447	GPCR, rhodopsin-like superfamily (1);	0.063289	0.64402	D	0.000005	D	0.82843	0.5125	M	0.88310	2.945	0.58432	D	0.999999	D	0.76494	0.999	D	0.71414	0.973	D	0.84998	0.0898	10	0.56958	D	0.05	-13.18	19.5144	0.95157	0.0:0.0:1.0:0.0	.	363	P08172	ACM2_HUMAN	H	363	ENSP00000399745:R363H;ENSP00000415386:R363H;ENSP00000319984:R363H;ENSP00000380733:R363H;ENSP00000384937:R363H;ENSP00000384401:R363H	ENSP00000319984:R363H	R	+	2	0	CHRM2	136351240	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.753000	0.74904	2.618000	0.88619	0.655000	0.94253	CGC		0.468	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341010.1		
EIF3E	3646	broad.mit.edu	37	8	109240547	109240547	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr8:109240547T>C	ENST00000220849.5	-	7	733	c.671A>G	c.(670-672)aAt>aGt	p.N224S	EIF3E_ENST00000519517.1_5'UTR|EIF3E_ENST00000519030.1_Missense_Mutation_p.N131S|RP11-35G22.1_ENST00000520037.1_RNA	NM_001568.2	NP_001559.1			eukaryotic translation initiation factor 3, subunit E										EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TTTGGGGTGATTGAAGAAAAC	0.348																																					GBM(15;360 410 8460 34179 52246)	uc003ymu.3																		EIF3E/RSPO2(6)	0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(670-672)aAt>aGt		Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.							102.0	105.0	104.0					8																	109240547		2203	4300	6503	SO:0001583	missense	3646				negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding	g.chr8:109240547T>C	U94175	CCDS6308.1	8q22-q23	2010-03-10	2007-07-27	2007-07-27	ENSG00000104408	ENSG00000104408			3277	protein-coding gene	gene with protein product		602210	"""eukaryotic translation initiation factor 3, subunit 6 48kDa"""	INT6, EIF3S6		9403073, 9295280	Standard	NM_001568		Approved	eIF3-p48, eIF3e	uc003ymu.3	P60228	OTTHUMG00000164858	ENST00000220849.5:c.671A>G	8.37:g.109240547T>C	ENSP00000220849:p.Asn224Ser					EIF3E_uc003ymt.3_Missense_Mutation_p.N175S	p.N224S	NM_001568	NP_001559	P60228	EIF3E_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)		6	699	-			224						Missense_Mutation	SNP	ENST00000220849.5	37	c.671A>G	CCDS6308.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.167437	0.78339	.	.	ENSG00000104408	ENST00000220849;ENST00000519030;ENST00000519627	T;T;T	0.50548	0.74;0.74;0.74	5.36	2.95	0.34219	.	0.000000	0.85682	D	0.000000	T	0.55162	0.1903	M	0.78916	2.43	0.80722	D	1	B;P	0.45672	0.386;0.864	B;P	0.49332	0.091;0.607	T	0.56232	-0.8013	10	0.87932	D	0	-14.1324	8.3037	0.32029	0.0:0.0692:0.1337:0.7971	.	224;224	B2R806;P60228	.;EIF3E_HUMAN	S	224;131;97	ENSP00000220849:N224S;ENSP00000428796:N131S;ENSP00000430839:N97S	ENSP00000220849:N224S	N	-	2	0	EIF3E	109309723	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.997000	0.88414	0.419000	0.25927	0.477000	0.44152	AAT		0.348	EIF3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380612.2	NM_001568	
BAI1	575	broad.mit.edu	37	8	143558906	143558906	+	Silent	SNP	C	C	T			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr8:143558906C>T	ENST00000517894.1	+	6	2277	c.1383C>T	c.(1381-1383)tgC>tgT	p.C461C	BAI1_ENST00000323289.5_Silent_p.C461C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	461	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TTGCCCTGTGCCCTGGTAGGT	0.657																																						uc003ywm.3																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57						c.(1381-1383)tgC>tgT		Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.							35.0	42.0	40.0					8																	143558906		1997	4145	6142	SO:0001819	synonymous_variant	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143558906C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.1383C>T	8.37:g.143558906C>T							p.C461C	NM_001702	NP_001693	O14514	BAI1_HUMAN			4	1566	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		461			TSP type-1 3.			Silent	SNP	ENST00000517894.1	37	c.1383C>T																																																																																					0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702	
NTMT1	28989	broad.mit.edu	37	9	132394975	132394975	+	5'UTR	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr9:132394975G>A	ENST00000372486.1	+	0	342				NTMT1_ENST00000372480.1_5'UTR|NTMT1_ENST00000486391.2_3'UTR|NTMT1_ENST00000459968.2_5'UTR|NTMT1_ENST00000372483.4_5'UTR|NTMT1_ENST00000482347.1_Intron|NTMT1_ENST00000372481.3_5'UTR			Q9BV86	NTM1A_HUMAN	N-terminal Xaa-Pro-Lys N-methyltransferase 1						chromosome segregation (GO:0007059)|N-terminal peptidyl-proline dimethylation (GO:0018016)|N-terminal peptidyl-serine dimethylation (GO:0035572)|N-terminal peptidyl-serine trimethylation (GO:0035573)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein methyltransferase activity (GO:0008276)										GCCGTGGTTGGTGACAGCATG	0.577																																						uc004byd.1																			0				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	7								Homo sapiens methyltransferase like 11A (METTL11A), mRNA.							142.0	110.0	121.0					9																	132394975		2203	4300	6503	SO:0001623	5_prime_UTR_variant	28989				chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity	g.chr9:132394975G>A	AF110776	CCDS35160.1, CCDS69682.1, CCDS75918.1	9q34.2	2012-11-05	2012-06-12	2012-06-12	ENSG00000148335	ENSG00000148335	2.1.1.n5		23373	protein-coding gene	gene with protein product		613560	"""chromosome 9 open reading frame 32"", ""methyltransferase like 11A"""	C9orf32, METTL11A		20481588	Standard	XM_005251939		Approved	AD-003, HOMT1A	uc004byd.1	Q9BV86	OTTHUMG00000020785	ENST00000372486.1:c.-8G>A	9.37:g.132394975G>A						METTL11A_uc011mbs.1_5'UTR|METTL11A_uc010myw.1_Non-coding_Transcript		NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN			1		+								A8K4J2|A8K8G7|Q5SZB9|Q9UI28	Translation_Start_Site	SNP	ENST00000372486.1	37		CCDS35160.1																																																																																				0.577	NTMT1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054589.1	NM_014064	
TUBBP5	643224	broad.mit.edu	37	9	141070969	141070969	+	RNA	SNP	A	A	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr9:141070969A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.A196A(1)									TAGAAAACGCAGATGAGACCT	0.517																																						uc010ncq.3																			1	Substitution - coding silent(1)	p.A196A(1)	endometrium(1)										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																																						643224							g.chr9:141070969A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141070969A>G														4		+									Silent	SNP	ENST00000503395.1	37																																																																																						0.517	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
TUBBP5	643224	broad.mit.edu	37	9	141071110	141071110	+	RNA	SNP	A	A	G			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr9:141071110A>G	ENST00000503395.1	+	0	1735									tubulin, beta pseudogene 5									p.P243P(7)									TGCGCTTCCCAGGCCAGCTGA	0.597																																						uc010ncq.3																			7	Substitution - coding silent(7)	p.P243P(7)	kidney(3)|prostate(2)|endometrium(2)										Homo sapiens tubulin, beta pseudogene 5 (TUBBP5), non-coding RNA.																																						643224							g.chr9:141071110A>G	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141071110A>G														4		+									Silent	SNP	ENST00000503395.1	37																																																																																						0.597	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156	
USP51	158880	broad.mit.edu	37	X	55514642	55514642	+	Missense_Mutation	SNP	T	T	C			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chrX:55514642T>C	ENST00000500968.3	-	2	813	c.731A>G	c.(730-732)aAc>aGc	p.N244S	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	244					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GTGGAGTCTGTTCATATGGGT	0.448																																						uc022bxu.1																			0				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						c.(730-732)aAc>aGc		Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.							146.0	128.0	134.0					X																	55514642		2203	4300	6503	SO:0001583	missense	158880				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chrX:55514642T>C	BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.731A>G	X.37:g.55514642T>C	ENSP00000423333:p.Asn244Ser					USP51_uc004dun.2_Missense_Mutation_p.N244S	p.N244S	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN			0	731	-			244					Q8IWJ8	Missense_Mutation	SNP	ENST00000500968.3	37	c.731A>G	CCDS14370.1	.	.	.	.	.	.	.	.	.	.	.	8.064	0.768742	0.15983	.	.	ENSG00000247746	ENST00000500968	T	0.41400	1.0	3.18	2.02	0.26589	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, UBP-type (2);	0.577562	0.16975	U	0.191943	T	0.25382	0.0617	N	0.16307	0.4	0.46849	D	0.999227	B	0.32968	0.392	B	0.37989	0.262	T	0.03684	-1.1013	10	0.25751	T	0.34	.	5.8446	0.18659	0.0:0.1391:0.0:0.8609	.	244	Q70EK9	UBP51_HUMAN	S	244	ENSP00000423333:N244S	ENSP00000423333:N244S	N	-	2	0	USP51	55531367	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	2.977000	0.49297	0.479000	0.27511	0.408000	0.27601	AAC		0.448	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056871.2	NM_201286	
POF1B	79983	broad.mit.edu	37	X	84562214	84562214	+	Silent	SNP	G	G	A			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chrX:84562214G>A	ENST00000262753.4	-	11	1264	c.1119C>T	c.(1117-1119)taC>taT	p.Y373Y	POF1B_ENST00000373145.3_Silent_p.Y373Y	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	373						tight junction (GO:0005923)				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGAGTTCTTCGTACTCTTTTA	0.333																																						uc004eer.2																			0				central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						c.(1117-1119)taC>taT		Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.							127.0	96.0	106.0					X																	84562214		2202	4298	6500	SO:0001819	synonymous_variant	79983						actin binding	g.chrX:84562214G>A	BC017500	CCDS14452.1	Xq21.2	2008-02-05			ENSG00000124429	ENSG00000124429			13711	protein-coding gene	gene with protein product		300603				11299520	Standard	NM_024921		Approved	POF, FLJ22792	uc004eer.2	Q8WVV4	OTTHUMG00000021934	ENST00000262753.4:c.1119C>T	X.37:g.84562214G>A						POF1B_uc004ees.3_Silent_p.Y373Y	p.Y373Y	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN			10	1265	-			373					A8K2U5|Q5H9E9|Q5H9F0|Q8NG12|Q9H5Y2|Q9H738|Q9H744	Silent	SNP	ENST00000262753.4	37	c.1119C>T	CCDS14452.1																																																																																				0.333	POF1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057391.2	NM_024921	
