#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
IK	3550	broad.mit.edu	37	5	140038918	140038918	+	Splice_Site	SNP	G	G	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr5:140038918G>T	ENST00000417647.2	+	13	1334	c.1195G>T	c.(1195-1197)Gga>Tga	p.G399*		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	399					cell-cell signaling (GO:0007267)|immune response (GO:0006955)	extracellular space (GO:0005615)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGACAAAGGTGAGTTGTA	0.498																																						uc003lgq.3																			0				large_intestine(1)	1						c.e13+1		Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.							123.0	113.0	116.0					5																	140038918		1996	4176	6172	SO:0001630	splice_region_variant	3550				cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction		g.chr5:140038918G>T	BC051295	CCDS47280.1	5q31.3	2008-08-07			ENSG00000113141	ENSG00000113141			5958	protein-coding gene	gene with protein product		600549				7970704	Standard	NM_006083		Approved		uc003lgq.3	Q13123	OTTHUMG00000163374	ENST00000417647.2:c.1195+1G>T	5.37:g.140038918G>T						IK_uc021yen.1_Splice_Site_p.G340_splice|U7_uc021yeo.1_5'Flank	p.G399_splice	NM_006083	NP_006074	Q13123	RED_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		13	1305	+		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	399					Q6IPD8	Splice_Site	SNP	ENST00000417647.2	37	c.1195_splice	CCDS47280.1	.	.	.	.	.	.	.	.	.	.	G	37	6.494184	0.97612	.	.	ENSG00000113141	ENST00000417647	.	.	.	5.35	5.35	0.76521	.	0.055106	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.19590	T	0.45	.	17.9993	0.89194	0.0:0.0:1.0:0.0	.	.	.	.	X	399	.	ENSP00000396301:G399X	G	+	1	0	IK	140019102	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	5.538000	0.67193	2.663000	0.90544	0.655000	0.94253	GGA		0.498	IK-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372897.1	NM_006083	Nonsense_Mutation	4	78	0	0	0	1	0	4	78				
TMPRSS11B	132724	broad.mit.edu	37	4	69107516	69107516	+	Silent	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr4:69107516G>A	ENST00000332644.5	-	2	176	c.15C>T	c.(13-15)ggC>ggT	p.G5G		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	5						extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GGGAAGATATGCCGTGCCTAT	0.378																																						uc003hdw.4																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						c.(13-15)ggC>ggT		Homo sapiens transmembrane protease, serine 11B (TMPRSS11B), mRNA.							71.0	69.0	70.0					4																	69107516		2203	4300	6503	SO:0001819	synonymous_variant	132724				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	g.chr4:69107516G>A	BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.15C>T	4.37:g.69107516G>A							p.G5G	NM_182502	NP_872308	Q86T26	TM11B_HUMAN			1	151	-			5					A8K4D9	Silent	SNP	ENST00000332644.5	37	c.15C>T	CCDS3521.1																																																																																				0.378	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		15	36	0	0	0	1	0	15	36				
MYOM3	127294	broad.mit.edu	37	1	24424482	24424482	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:24424482C>T	ENST00000374434.3	-	7	838	c.676G>A	c.(676-678)Gca>Aca	p.A226T	MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000329601.7_Missense_Mutation_p.A226T|MYOM3_ENST00000330966.7_Missense_Mutation_p.A227T	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	226	Ig-like C2-type 1.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GTGTAAGTTGCTGAGTCCTCA	0.582																																						uc001bin.4																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68						c.(676-678)Gca>Aca		Homo sapiens myomesin family, member 3 (MYOM3), mRNA.							131.0	141.0	138.0					1																	24424482		2045	4192	6237	SO:0001583	missense	127294							g.chr1:24424482C>T	AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.676G>A	1.37:g.24424482C>T	ENSP00000363557:p.Ala226Thr					MYOM3_uc001bim.4_5'Flank|MYOM3_uc001bio.3_Missense_Mutation_p.A226T|MYOM3_uc001bip.1_5'UTR	p.A226T	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)	6	839	-		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)	226			Ig-like C2-type 1.		A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Missense_Mutation	SNP	ENST00000374434.3	37	c.676G>A	CCDS41281.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677775	0.68042	.	.	ENSG00000142661	ENST00000374434;ENST00000330966;ENST00000329601	T;T;T	0.67523	-0.27;-0.27;-0.27	5.36	5.36	0.76844	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.324245	0.32190	N	0.006442	T	0.80969	0.4726	M	0.87827	2.91	0.33713	D	0.615984	P;D	0.56746	0.618;0.977	P;P	0.55824	0.698;0.785	D	0.88786	0.3274	10	0.87932	D	0	.	16.0063	0.80363	0.0:1.0:0.0:0.0	.	226;226	Q5VTT5-2;Q5VTT5	.;MYOM3_HUMAN	T	226;227;226	ENSP00000363557:A226T;ENSP00000332670:A227T;ENSP00000328415:A226T	ENSP00000328415:A226T	A	-	1	0	MYOM3	24297069	0.620000	0.27068	0.995000	0.50966	0.335000	0.28730	4.265000	0.58865	2.518000	0.84900	0.555000	0.69702	GCA		0.582	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000008272.2	NM_152372		4	205	0	0	0	1	0	4	205				
PTDSS2	81490	broad.mit.edu	37	11	490485	490485	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:490485G>A	ENST00000308020.5	+	12	1543	c.1367G>A	c.(1366-1368)aGc>aAc	p.S456N		NM_030783.1	NP_110410.1	Q9BVG9	PTSS2_HUMAN	phosphatidylserine synthase 2	456					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylserine biosynthetic process (GO:0006659)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	CDP-diacylglycerol-serine O-phosphatidyltransferase activity (GO:0003882)			autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	Phosphatidylserine(DB00144)	GACCAGGGCAGCACCGTCGGC	0.657																																						uc001lpj.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(1)	9						c.(1366-1368)aGc>aAc		Homo sapiens phosphatidylserine synthase 2 (PTDSS2), mRNA.	Phosphatidylserine(DB00144)						68.0	55.0	60.0					11																	490485		2202	4300	6502	SO:0001583	missense	81490					integral to membrane		g.chr11:490485G>A	BC001210	CCDS7696.1	11p15	2008-05-02			ENSG00000174915	ENSG00000174915			15463	protein-coding gene	gene with protein product		612793				14984733	Standard	NM_030783		Approved	PSS2	uc001lpj.3	Q9BVG9	OTTHUMG00000119087	ENST00000308020.5:c.1367G>A	11.37:g.490485G>A	ENSP00000308258:p.Ser456Asn						p.S456N	NM_030783	NP_110410	Q9BVG9	PTSS2_HUMAN		all cancers(45;2.76e-26)|Epithelial(43;2.56e-25)|OV - Ovarian serous cystadenocarcinoma(40;7.54e-20)|BRCA - Breast invasive adenocarcinoma(625;8.76e-05)|Lung(200;0.0407)|LUSC - Lung squamous cell carcinoma(625;0.0735)	11	1543	+		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	456						Missense_Mutation	SNP	ENST00000308020.5	37	c.1367G>A	CCDS7696.1	.	.	.	.	.	.	.	.	.	.	G	9.468	1.094975	0.20471	.	.	ENSG00000174915	ENST00000308020	.	.	.	3.46	-0.923	0.10465	.	2.248750	0.01712	N	0.027775	T	0.17238	0.0414	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.09443	-1.0674	9	0.17369	T	0.5	-0.5352	2.8286	0.05492	0.3616:0.0:0.4358:0.2026	.	456	Q9BVG9	PTSS2_HUMAN	N	456	.	ENSP00000308258:S456N	S	+	2	0	PTDSS2	480485	0.001000	0.12720	0.011000	0.14972	0.030000	0.12068	0.076000	0.14712	-0.037000	0.13646	0.561000	0.74099	AGC		0.657	PTDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239301.2			3	52	0	0	0	1	0	3	52				
PRKD1	5587	broad.mit.edu	37	14	30133033	30133033	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr14:30133033A>G	ENST00000331968.5	-	4	797	c.568T>C	c.(568-570)Ttt>Ctt	p.F190L	PRKD1_ENST00000415220.2_Missense_Mutation_p.F190L	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	190					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		GGTATTTTAAATGCACATCTC	0.403																																						uc001wqh.3																			0				NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78						c.(568-570)Ttt>Ctt		Homo sapiens protein kinase D1 (PRKD1), mRNA.							148.0	151.0	150.0					14																	30133033		2203	4300	6503	SO:0001583	missense	5587				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity	g.chr14:30133033A>G		CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.568T>C	14.37:g.30133033A>G	ENSP00000333568:p.Phe190Leu					MIR548AI_uc021rrv.1_Intron	p.F190L	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)	3	749	-	Hepatocellular(127;0.0604)		190					A6NL64|B2RAF6	Missense_Mutation	SNP	ENST00000331968.5	37	c.568T>C	CCDS9637.1	.	.	.	.	.	.	.	.	.	.	A	23.6	4.436809	0.83885	.	.	ENSG00000184304	ENST00000331968;ENST00000415220;ENST00000549503	D;D;D	0.92545	-3.06;-3.06;-3.06	5.89	5.89	0.94794	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.84234	0.5427	N	0.01761	-0.735	0.80722	D	1	B	0.28552	0.215	B	0.37943	0.261	D	0.83816	0.0244	10	0.49607	T	0.09	-26.9946	16.3605	0.83263	1.0:0.0:0.0:0.0	.	190	Q15139	KPCD1_HUMAN	L	190;190;113	ENSP00000333568:F190L;ENSP00000390535:F190L;ENSP00000446866:F113L	ENSP00000333568:F190L	F	-	1	0	PRKD1	29202784	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.336000	0.96533	2.260000	0.74910	0.529000	0.55759	TTT		0.403	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276611.2	NM_002742		12	228	0	0	0	1	0	12	228				
MYO1C	4641	broad.mit.edu	37	17	1381773	1381773	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr17:1381773G>A	ENST00000575158.1	-	11	1297	c.1121C>T	c.(1120-1122)cCc>cTc	p.P374L	MYO1C_ENST00000361007.2_Missense_Mutation_p.P374L|MYO1C_ENST00000545534.2_Missense_Mutation_p.P385L|MYO1C_ENST00000438665.2_Missense_Mutation_p.P390L|MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000359786.5_Missense_Mutation_p.P409L			Q12965	MYO1E_HUMAN	myosin IC	382	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCGCCAGCTGGGGCTCTCCAC	0.652																																						uc002fsp.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1225-1227)cCc>cTc		Homo sapiens myosin IC (MYO1C), transcript variant 1, mRNA.							57.0	65.0	62.0					17																	1381773		2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	ATP binding|actin binding|calmodulin binding|motor activity	g.chr17:1381773G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1121C>T	17.37:g.1381773G>A	ENSP00000459174:p.Pro374Leu					MYO1C_uc002fsn.3_Missense_Mutation_p.P390L|MYO1C_uc002fso.3_Missense_Mutation_p.P374L|MYO1C_uc010vqj.1_Missense_Mutation_p.P374L|MYO1C_uc010vqk.1_Missense_Mutation_p.P385L	p.P409L	NM_001080779	NP_203693	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	10	1446	-			409			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.1226C>T	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283257	0.40394	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	D;D;D;D	0.88431	-2.38;-2.37;-2.37;-2.37	5.73	5.73	0.89815	Myosin head, motor domain (2);	0.547722	0.21668	N	0.070918	D	0.84556	0.5498	L	0.53249	1.67	0.50813	D	0.999898	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.77075	-0.2722	10	0.11485	T	0.65	.	12.2297	0.54480	0.0773:0.0:0.9227:0.0	.	385;409;390	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	L	409;390;390;374;385;374	ENSP00000352834:P409L;ENSP00000412197:P390L;ENSP00000354283:P374L;ENSP00000437685:P385L	ENSP00000352834:P409L	P	-	2	0	MYO1C	1328523	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	4.313000	0.59160	2.709000	0.92574	0.563000	0.77884	CCC		0.652	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			5	84	0	0	0	1	0	5	84				
MDN1	23195	broad.mit.edu	37	6	90371839	90371839	+	Silent	SNP	T	T	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:90371839T>C	ENST00000369393.3	-	87	14647	c.14532A>G	c.(14530-14532)caA>caG	p.Q4844Q	MDN1_ENST00000428876.1_Silent_p.Q4844Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4844					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGTCTTCACCTTGTCCACCAT	0.388																																						uc003pnn.1																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(14530-14532)caA>caG		Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.							424.0	370.0	388.0					6																	90371839		2203	4299	6502	SO:0001819	synonymous_variant	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90371839T>C	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14532A>G	6.37:g.90371839T>C							p.Q4844Q	NM_014611	NP_055426	Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	86	14648	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	4844					O15019|Q5T794	Silent	SNP	ENST00000369393.3	37	c.14532A>G	CCDS5024.1																																																																																				0.388	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			3	172	0	0	0	1	0	3	172				
EID3	493861	broad.mit.edu	37	12	104698071	104698071	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:104698071G>A	ENST00000527879.1	+	1	555	c.359G>A	c.(358-360)tGt>tAt	p.C120Y	TXNRD1_ENST00000388854.3_Intron|TXNRD1_ENST00000542918.1_Intron|TXNRD1_ENST00000540716.1_Intron|TXNRD1_ENST00000503506.2_Intron|TXNRD1_ENST00000429002.2_Intron|TXNRD1_ENST00000354940.6_Intron|TXNRD1_ENST00000526691.1_Intron|TXNRD1_ENST00000397736.2_Intron|TXNRD1_ENST00000526390.1_Intron|TXNRD1_ENST00000529546.1_Intron|TXNRD1_ENST00000525566.1_Intron|TXNRD1_ENST00000524698.1_Intron|TXNRD1_ENST00000378070.4_Intron	NM_001008394.2	NP_001008395.1			EP300 interacting inhibitor of differentiation 3											large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TTAGCATTTTGTGACTTTCTG	0.428																																						uc001tkw.3																			0				large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(358-360)tGt>tAt		Homo sapiens EP300 interacting inhibitor of differentiation 3 (EID3), mRNA.							205.0	204.0	204.0					12																	104698071		1970	4155	6125	SO:0001583	missense	493861				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr12:104698071G>A	BC027612	CCDS53822.1	12q23.3	2006-11-24				ENSG00000255150			32961	protein-coding gene	gene with protein product		612986				15987788, 15752197	Standard	NM_001008394		Approved	FLJ25832, NSMCE4B, NSE4B	uc001tkw.3	Q8N140		ENST00000527879.1:c.359G>A	12.37:g.104698071G>A	ENSP00000435619:p.Cys120Tyr					TXNRD1_uc021rcx.1_Intron|TXNRD1_uc021rcy.1_Intron|TXNRD1_uc021rcz.1_Intron|TXNRD1_uc021rda.1_Intron|TXNRD1_uc021rdb.1_Intron|TXNRD1_uc010swp.2_Intron|TXNRD1_uc010swq.2_Intron|TXNRD1_uc001tku.3_Intron|TXNRD1_uc001tkv.2_Intron	p.C120Y	NM_001008394	NP_001008395	Q8N140	EID3_HUMAN			0	562	+			120						Missense_Mutation	SNP	ENST00000527879.1	37	c.359G>A	CCDS53822.1	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602009	0.66445	.	.	ENSG00000255150	ENST00000527879	T	0.42131	0.98	4.42	3.45	0.39498	.	.	.	.	.	T	0.48150	0.1484	L	0.51422	1.61	0.09310	N	1	P	0.40230	0.708	P	0.51170	0.661	T	0.27365	-1.0076	9	0.40728	T	0.16	.	9.8419	0.41004	0.0:0.209:0.791:0.0	.	120	Q8N140	EID3_HUMAN	Y	120	ENSP00000435619:C120Y	ENSP00000435619:C120Y	C	+	2	0	EID3	103222201	0.996000	0.38824	0.466000	0.27168	0.505000	0.33919	2.290000	0.43531	2.469000	0.83416	0.555000	0.69702	TGT		0.428	EID3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387034.1	NM_001008394		5	247	0	0	0	1	0	5	247				
ARMC3	219681	broad.mit.edu	37	10	23292246	23292246	+	Missense_Mutation	SNP	A	A	G	rs569312673		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr10:23292246A>G	ENST00000298032.5	+	13	1718	c.1634A>G	c.(1633-1635)aAt>aGt	p.N545S	ARMC3_ENST00000376528.4_Missense_Mutation_p.N282S|ARMC3_ENST00000409983.3_Missense_Mutation_p.N545S|ARMC3_ENST00000409049.3_Missense_Mutation_p.N545S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	545						extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GCAGCTTATAATAAGTTGCTC	0.348																																						uc001irm.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						c.(1633-1635)aAt>aGt		Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.							112.0	112.0	112.0					10																	23292246		2203	4300	6503	SO:0001583	missense	219681						binding	g.chr10:23292246A>G	AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1634A>G	10.37:g.23292246A>G	ENSP00000298032:p.Asn545Ser					ARMC3_uc010qcv.2_Missense_Mutation_p.N545S|ARMC3_uc010qcw.2_Missense_Mutation_p.N282S	p.N545S	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN			12	1717	+			545					A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	ENST00000298032.5	37	c.1634A>G	CCDS7142.1	.	.	.	.	.	.	.	.	.	.	A	9.202	1.028836	0.19512	.	.	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.37584	1.19;1.19;1.19;2.41	5.53	4.41	0.53225	.	0.849335	0.10961	N	0.615037	T	0.31136	0.0787	L	0.50919	1.6	0.32523	N	0.535935	B;B	0.14012	0.009;0.004	B;B	0.09377	0.004;0.003	T	0.30268	-0.9984	10	0.12103	T	0.63	-16.86	10.8516	0.46773	0.926:0.0:0.0739:0.0	.	545;545	Q5W041-4;Q5W041	.;ARMC3_HUMAN	S	545;545;481;545;282	ENSP00000298032:N545S;ENSP00000386943:N545S;ENSP00000387288:N545S;ENSP00000365711:N282S	ENSP00000298032:N545S	N	+	2	0	ARMC3	23332252	1.000000	0.71417	1.000000	0.80357	0.704000	0.40688	2.293000	0.43558	2.093000	0.63338	0.460000	0.39030	AAT		0.348	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047197.2	NM_173081		17	101	0	0	0	1	0	17	101				
KMT2A	4297	broad.mit.edu	37	11	118361935	118361935	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:118361935A>G	ENST00000389506.5	+	14	4721	c.4721A>G	c.(4720-4722)aAa>aGa	p.K1574R	KMT2A_ENST00000534358.1_Missense_Mutation_p.K1574R|KMT2A_ENST00000354520.4_Missense_Mutation_p.K1536R			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1574					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										CTCTGTGACAAATGTTATGAT	0.433																																						uc001ptb.3										"""T, O"""					"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""		"""AML, ALL"""		0				breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131						c.(4720-4722)aAa>aGa		Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 1, mRNA.							184.0	170.0	174.0					11																	118361935		2200	4296	6496	SO:0001583	missense	4297				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding	g.chr11:118361935A>G	L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.4721A>G	11.37:g.118361935A>G	ENSP00000374157:p.Lys1574Arg					MLL_uc001pta.3_Missense_Mutation_p.K1574R|MLL_uc001pte.1_Non-coding_Transcript	p.K1574R	NM_001197104	NP_001184033	Q03164	MLL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)	13	4744	+	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)	1574					E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	ENST00000389506.5	37	c.4721A>G	CCDS31686.1	.	.	.	.	.	.	.	.	.	.	A	18.67	3.673836	0.67928	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313;ENST00000392873	D;D;D;D	0.87491	-1.91;-1.91;-1.91;-2.26	5.52	5.52	0.82312	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.87822	0.6274	N	0.17838	0.53	0.58432	D	0.999996	D;D	0.76494	0.999;0.957	D;P	0.80764	0.994;0.857	D	0.86191	0.1612	10	0.23891	T	0.37	.	15.6631	0.77203	1.0:0.0:0.0:0.0	.	1574;1574	E9PQG7;Q03164	.;MLL1_HUMAN	R	1574;1574;1536;484;286	ENSP00000436786:K1574R;ENSP00000374157:K1574R;ENSP00000346516:K1536R;ENSP00000376612:K286R	ENSP00000346516:K1536R	K	+	2	0	MLL	117867145	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.572000	0.82409	2.088000	0.63022	0.533000	0.62120	AAA		0.433	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933		3	159	0	0	0	1	0	3	159				
PPWD1	23398	broad.mit.edu	37	5	64875316	64875317	+	Missense_Mutation	DNP	TA	TA	GC			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr5:64875316_64875317TA>GC	ENST00000261308.5	+	7	1298_1299	c.1226_1227TA>GC	c.(1225-1227)aTA>aGC	p.I409S	PPWD1_ENST00000538977.1_Missense_Mutation_p.I253S|PPWD1_ENST00000535264.1_Missense_Mutation_p.I379S	NM_015342.3	NP_056157.1	Q96BP3	PPWD1_HUMAN	peptidylprolyl isomerase domain and WD repeat containing 1	409					mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00451)		TTCCAGGGGATAGCCAAAAAGC	0.356																																						uc003jtv.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	19						c.(1225-1227)ata>aGC		Homo sapiens peptidylprolyl isomerase domain and WD repeat containing 1 (PPWD1), mRNA.																																				SO:0001583	missense	23398				protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity	g.chr5:64875316_64875317TA>GC	AK025679	CCDS3985.1, CCDS64161.1, CCDS64162.1	5q12.3	2013-01-09			ENSG00000113593	ENSG00000113593		"""WD repeat domain containing"""	28954	protein-coding gene	gene with protein product						7584044	Standard	NM_015342		Approved	KIAA0073	uc003jtv.5	Q96BP3	OTTHUMG00000131226	Exception_encountered	5.37:g.64875316_64875317delinsGC	ENSP00000261308:p.Ile409Ser					PPWD1_uc011cqv.2_Missense_Mutation_p.I379S|PPWD1_uc011cqw.2_Missense_Mutation_p.I253S	p.I409S	NM_015342	NP_056157	Q96BP3	PPWD1_HUMAN		Lung(70;0.00451)	6	1233_1234	+		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)	409					B4DWR9|Q15002|Q7KZ89	Missense_Mutation	DNP	ENST00000261308.5	37	c.1226_1227TA>GC	CCDS3985.1																																																																																				0.356	PPWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253970.2	NM_015342		3	71	0	0	0	1	0	3	71				
MRGPRX1	259249	broad.mit.edu	37	11	18956155	18956155	+	Silent	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:18956155G>A	ENST00000302797.3	-	1	401	c.177C>T	c.(175-177)aaC>aaT	p.N59N	MRGPRX1_ENST00000526914.1_5'UTR|RP11-583F24.8_ENST00000528646.1_RNA	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	59					acute-phase response (GO:0006953)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGGAGAAGGCGTTCCTGCGCA	0.562																																						uc001mpg.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						c.(175-177)aaC>aaT		Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.							145.0	140.0	141.0					11																	18956155		2194	4286	6480	SO:0001819	synonymous_variant	259249				acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr11:18956155G>A		CCDS7846.1	11p15.1	2013-10-10			ENSG00000170255	ENSG00000170255		"""GPCR / Class A : Orphans"""	17962	protein-coding gene	gene with protein product		607227				11551509	Standard	NM_147199		Approved	MRGX1	uc001mpg.3	Q96LB2	OTTHUMG00000162655	ENST00000302797.3:c.177C>T	11.37:g.18956155G>A							p.N59N	NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN			0	395	-			59					Q4V9L2|Q8TDD8|Q8TDD9	Silent	SNP	ENST00000302797.3	37	c.177C>T	CCDS7846.1																																																																																				0.562	MRGPRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369913.1	NM_147199		6	202	0	0	0	1	0	6	202				
TBC1D22B	55633	broad.mit.edu	37	6	37254821	37254821	+	Silent	SNP	G	G	A	rs74511891		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:37254821G>A	ENST00000373491.3	+	7	986	c.840G>A	c.(838-840)ccG>ccA	p.P280P		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	280	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.						Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CTCTCATTCCGTTGTTCCAGC	0.418													G|||	1	0.000199681	0.0	0.0	5008	,	,		20624	0.001		0.0	False		,,,				2504	0.0					uc003onn.3																			0		p.P280Q(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15						c.(838-840)ccG>ccA		Homo sapiens TBC1 domain family, member 22B (TBC1D22B), mRNA.							169.0	157.0	161.0					6																	37254821		2203	4300	6503	SO:0001819	synonymous_variant	55633					intracellular	Rab GTPase activator activity	g.chr6:37254821G>A	AK096340	CCDS4832.1	6p21.2	2005-01-05	2005-01-05	2005-01-05	ENSG00000065491	ENSG00000065491			21602	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 197"""	C6orf197			Standard	NM_017772		Approved	FLJ20337, dJ744I24.2	uc003onn.3	Q9NU19	OTTHUMG00000014619	ENST00000373491.3:c.840G>A	6.37:g.37254821G>A						TBC1D22B_uc010jwt.3_Non-coding_Transcript	p.P280P	NM_017772	NP_060242	Q9NU19	TB22B_HUMAN	OV - Ovarian serous cystadenocarcinoma(102;0.241)		6	986	+			280			Rab-GAP TBC.		A8KA28|Q32MQ8|Q5VUK9|Q6P4C3|Q7Z6P7|Q9BPV6|Q9BUT5|Q9NXB6	Silent	SNP	ENST00000373491.3	37	c.840G>A	CCDS4832.1																																																																																				0.418	TBC1D22B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040402.1	NM_017772		70	96	0	0	0	1	0	70	96				
NRXN2	9379	broad.mit.edu	37	11	64415766	64415766	+	Missense_Mutation	SNP	C	C	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:64415766C>T	ENST00000377551.1	-	16	3539	c.3328G>A	c.(3328-3330)Gtc>Atc	p.V1110I	NRXN2_ENST00000265459.6_Missense_Mutation_p.V1110I|NRXN2_ENST00000409571.1_Missense_Mutation_p.V1103I|NRXN2_ENST00000377559.3_Missense_Mutation_p.V1070I|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	1110	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						TGCAAGCAGACGCCCTGGTTG	0.632																																						uc021qkw.1																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(3328-3330)Gtc>Atc		Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.							107.0	93.0	98.0					11																	64415766		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64415766C>T		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.3328G>A	11.37:g.64415766C>T	ENSP00000366774:p.Val1110Ile					NRXN2_uc021qkx.1_Missense_Mutation_p.V1070I|NRXN2_uc001oas.3_Missense_Mutation_p.V1070I|NRXN2_uc001oaq.3_Missense_Mutation_p.V777I	p.V1110I	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN			16	3790	-			1110			EGF-like 3.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.3328G>A	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527781	0.64860	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	4.34	4.34	0.51931	Concanavalin A-like lectin/glucanase (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.38164	U	0.001783	T	0.69387	0.3105	L	0.41236	1.265	0.45662	D	0.998587	D;P;D	0.76494	0.998;0.731;0.999	D;B;D	0.77004	0.989;0.171;0.972	T	0.65459	-0.6163	10	0.25751	T	0.34	.	14.4014	0.67050	0.0:1.0:0.0:0.0	.	1070;1110;856	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	I	1110;1070;1110;1070;1103	ENSP00000366774:V1110I;ENSP00000366782:V1070I;ENSP00000265459:V1110I;ENSP00000386416:V1103I	ENSP00000265459:V1110I	V	-	1	0	NRXN2	64172342	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.617000	0.67716	2.240000	0.73641	0.655000	0.94253	GTC		0.632	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		5	110	0	0	0	1	0	5	110				
PA2G4	5036	broad.mit.edu	37	12	56500441	56500441	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:56500441A>G	ENST00000303305.6	+	2	577	c.158A>G	c.(157-159)gAt>gGt	p.D53G	RP11-603J24.9_ENST00000548861.1_Missense_Mutation_p.D34G|RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Missense_Mutation_p.D53G	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	53	RNA-binding.				cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of translation (GO:0006417)|rRNA processing (GO:0006364)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			gagaaaggtgatgccatgATT	0.433																																						uc001sjm.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(157-159)gAt>gGt		Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.							78.0	73.0	75.0					12																	56500441		2201	4299	6500	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|rRNA processing|regulation of translation	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56500441A>G	U59435, BC007561	CCDS8902.1	12q13.2	2008-09-05	2002-08-29		ENSG00000170515	ENSG00000170515			8550	protein-coding gene	gene with protein product		602145	"""proliferation-associated 2G4, 38kD"""			9345902	Standard	NM_006191		Approved		uc001sjm.3	Q9UQ80	OTTHUMG00000170173	ENST00000303305.6:c.158A>G	12.37:g.56500441A>G	ENSP00000302886:p.Asp53Gly						p.D53G	NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		1	577	+			53			RNA-binding.		O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.158A>G	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	A	33	5.206618	0.95033	.	.	ENSG00000257411;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515;ENSG00000170515	ENST00000548861;ENST00000303305;ENST00000552766;ENST00000417031;ENST00000546435;ENST00000548711;ENST00000553057	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	6.03	6.03	0.97812	Peptidase M24, structural domain (3);	0.000000	0.85682	D	0.000000	D	0.90978	0.7163	M	0.94063	3.49	0.80722	D	1	P;D;D	0.71674	0.932;0.998;0.998	P;D;D	0.80764	0.718;0.99;0.994	D	0.93081	0.6491	10	0.87932	D	0	.	15.5407	0.76043	1.0:0.0:0.0:0.0	.	53;53;53	F8VRZ3;F8VTY8;Q9UQ80	.;.;PA2G4_HUMAN	G	34;53;53;82;53;53;42	ENSP00000449770:D34G;ENSP00000302886:D53G;ENSP00000448557:D53G;ENSP00000447615:D42G	ENSP00000302886:D53G	D	+	2	0	PA2G4;RP11-603J24.9	54786708	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.815000	0.91973	2.308000	0.77769	0.533000	0.62120	GAT		0.433	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		20	34	0	0	0	1	0	20	34				
NCOA1	8648	broad.mit.edu	37	2	24964736	24964736	+	Silent	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:24964736G>A	ENST00000406961.1	+	19	4039	c.3387G>A	c.(3385-3387)caG>caA	p.Q1129Q	NCOA1_ENST00000405141.1_Silent_p.Q1129Q|NCOA1_ENST00000348332.3_Silent_p.Q1129Q|NCOA1_ENST00000407230.1_Silent_p.Q978Q|NCOA1_ENST00000395856.3_Silent_p.Q1129Q|NCOA1_ENST00000538539.1_Silent_p.Q1129Q|NCOA1_ENST00000288599.5_Silent_p.Q1129Q			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1129	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|cellular lipid metabolic process (GO:0044255)|cellular response to hormone stimulus (GO:0032870)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|estrous cycle phase (GO:0060206)|hippocampus development (GO:0021766)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|labyrinthine layer morphogenesis (GO:0060713)|lactation (GO:0007595)|male gonad development (GO:0008584)|male mating behavior (GO:0060179)|ovulation cycle (GO:0042698)|positive regulation of apoptotic process (GO:0043065)|positive regulation of female receptivity (GO:0045925)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by galactose (GO:0000435)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular response to drug (GO:2001038)|response to estradiol (GO:0032355)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region DNA binding (GO:0001012)|RNA polymerase II transcription coactivator activity (GO:0001105)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)		PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAATACAGCAGCAAAGAGCCA	0.522			T	PAX3	alveolar rhadomyosarcoma																																	uc002rfk.3				Dom	yes		2	2p23	8648	T	nuclear receptor coactivator 1			M	PAX3		alveolar rhadomyosarcoma	PAX3/NCOA1(8)	0				breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53						c.(3385-3387)caG>caA		Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.							109.0	93.0	98.0					2																	24964736		2203	4300	6503	SO:0001819	synonymous_variant	8648							g.chr2:24964736G>A	U40396	CCDS1712.1, CCDS1713.1, CCDS42660.1	2p23	2011-07-01			ENSG00000084676	ENSG00000084676		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7668	protein-coding gene	gene with protein product		602691				7481822, 9575154	Standard	XM_005264625		Approved	SRC1, F-SRC-1, NCoA-1, KAT13A, RIP160, bHLHe74	uc002rfk.3	Q15788	OTTHUMG00000125523	ENST00000406961.1:c.3387G>A	2.37:g.24964736G>A						NCOA1_uc010eye.3_Silent_p.Q1129Q|NCOA1_uc002rfi.3_Silent_p.Q978Q|NCOA1_uc002rfj.3_Silent_p.Q1129Q|NCOA1_uc002rfl.3_Silent_p.Q1129Q|NCOA1_uc010eyf.3_Silent_p.Q22Q	p.Q1129Q	NM_003743	NP_003734	Q15788	NCOA1_HUMAN			16	3646	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		1129			Gln-rich.		O00150|O43792|O43793|Q13071|Q13420|Q2T9G5|Q53SX3|Q6GVI5|Q7KYV3	Silent	SNP	ENST00000406961.1	37	c.3387G>A	CCDS1712.1																																																																																				0.522	NCOA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246852.3	NM_147223		3	76	0	0	0	1	0	3	76				
FBXO11	80204	broad.mit.edu	37	2	48066119	48066119	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:48066119G>A	ENST00000403359.3	-	4	538	c.466C>T	c.(466-468)Cag>Tag	p.Q156*	FBXO11_ENST00000480038.1_5'UTR|FBXO11_ENST00000378314.3_Nonsense_Mutation_p.Q38*|FBXO11_ENST00000402508.1_Nonsense_Mutation_p.Q72*|FBXO11_ENST00000316377.4_Nonsense_Mutation_p.Q72*	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	156	F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AGTTTCTCCTGAAGATACTGT	0.353			"""Mis, F, D"""		DLBCL																																	uc002rwe.3				Rec	yes		2	2p16.3	80204	"""Mis, F, D"""	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(466-468)Cag>Tag		Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.							81.0	78.0	79.0					2																	48066119		2203	4300	6503	SO:0001587	stop_gained	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48066119G>A	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.466C>T	2.37:g.48066119G>A	ENSP00000384823:p.Gln156*					FBXO11_uc010fbl.3_Nonsense_Mutation_p.Q72*|FBXO11_uc002rwg.2_Nonsense_Mutation_p.Q156*|FBXO11_uc021vhe.1_5'Flank	p.Q156*	NM_001190274	NP_001177203	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		3	539	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	156			F-box.		A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Nonsense_Mutation	SNP	ENST00000403359.3	37	c.466C>T	CCDS54357.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408787	0.96072	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000424163;ENST00000378314	.	.	.	5.6	5.6	0.85130	.	0.049923	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-1.3811	19.6087	0.95589	0.0:0.0:1.0:0.0	.	.	.	.	X	72;156;72;72;38	.	ENSP00000323822:Q72X	Q	-	1	0	FBXO11	47919623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.865000	0.99609	2.629000	0.89072	0.563000	0.77884	CAG		0.353	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		5	101	0	0	0	1	0	5	101				
USP36	57602	broad.mit.edu	37	17	76802345	76802345	+	Silent	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr17:76802345G>A	ENST00000542802.3	-	15	2552	c.2109C>T	c.(2107-2109)acC>acT	p.T703T	USP36_ENST00000312010.6_Silent_p.T703T|USP36_ENST00000588467.1_5'Flank|USP36_ENST00000449938.2_Silent_p.T403T			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	703					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)	p.T703T(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			GGTCATTGCCGGTCGCCCTCC	0.542																																						uc002jvz.1																			2	Substitution - coding silent(2)	p.T703T(3)	endometrium(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34						c.(2107-2109)acC>acT		Homo sapiens ubiquitin specific peptidase 36 (USP36), mRNA.							71.0	72.0	72.0					17																	76802345		2203	4300	6503	SO:0001819	synonymous_variant	57602				ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr17:76802345G>A	AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.2109C>T	17.37:g.76802345G>A						USP36_uc002jwa.1_Silent_p.T703T|USP36_uc002jwb.1_Silent_p.T340T|USP36_uc002jwc.1_Silent_p.T403T	p.T703T	NM_025090	NP_079366	Q9P275	UBP36_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)		14	2434	-			703					Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Silent	SNP	ENST00000542802.3	37	c.2109C>T	CCDS32755.1																																																																																				0.542	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437472.3	NM_025090		3	108	0	0	0	1	0	3	108				
IGHV3-49	28423	broad.mit.edu	37	14	107013366	107013366	+	RNA	SNP	A	A	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr14:107013366A>G	ENST00000390625.2	-	0	111									immunoglobulin heavy variable 3-49																		TAAAATAGCAACAAGGAAAAC	0.478																																						uc021ser.1																			0													Parts of antibodies, mostly variable regions.							141.0	136.0	138.0					14																	107013366		1889	4117	6006			0							g.chr14:107013366A>G	M99676		14q32.33	2012-02-08			ENSG00000211965	ENSG00000211965		"""Immunoglobulins / IGH locus"""	5607	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151967		14.37:g.107013366A>G														218		-									RNA	SNP	ENST00000390625.2	37	c.8510T>C																																																																																					0.478	IGHV3-49-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324613.1	NG_001019		4	180	0	0	0	1	0	4	180				
MOGAT2	80168	broad.mit.edu	37	11	75442250	75442250	+	Silent	SNP	T	T	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:75442250T>C	ENST00000198801.5	+	6	994	c.924T>C	c.(922-924)taT>taC	p.Y308Y	MOGAT2_ENST00000526712.1_Silent_p.Y226Y	NM_025098.2	NP_079374.2	Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	308					diacylglycerol biosynthetic process (GO:0006651)|glycerol metabolic process (GO:0006071)|intestinal absorption (GO:0050892)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	2-acylglycerol O-acyltransferase activity (GO:0003846)|acetyltransferase activity (GO:0016407)			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					ACCAGCGTTATATCAAAGAGC	0.562																																						uc010rru.2																			0				NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20						c.(922-924)taT>taC		Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.							118.0	103.0	108.0					11																	75442250		2200	4293	6493	SO:0001819	synonymous_variant	80168				glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity	g.chr11:75442250T>C	AY157608	CCDS8240.1	11q13.5	2008-02-05			ENSG00000166391	ENSG00000166391			23248	protein-coding gene	gene with protein product		610270				14970677	Standard	NM_025098		Approved	MGAT2, DGAT2L5, FLJ22644	uc010rru.2	Q3SYC2	OTTHUMG00000165341	ENST00000198801.5:c.924T>C	11.37:g.75442250T>C						MOGAT2_uc010rrv.2_Silent_p.Y226Y	p.Y308Y	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN			5	924	+	Ovarian(111;0.103)		308					A8K7I3|Q3SYC1|Q6ZQZ2|Q86UH6|Q9H630	Silent	SNP	ENST00000198801.5	37	c.924T>C	CCDS8240.1																																																																																				0.562	MOGAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383520.1	NM_025098		4	127	0	0	0	1	0	4	127				
ZC3H12C	85463	broad.mit.edu	37	11	110035909	110035909	+	Missense_Mutation	SNP	A	A	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:110035909A>G	ENST00000278590.3	+	6	2150	c.2099A>G	c.(2098-2100)aAg>aGg	p.K700R	ZC3H12C_ENST00000453089.2_Missense_Mutation_p.K669R|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.K701R	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	700							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTCCATCACAAGCCTCCTCTT	0.587																																						uc010rwc.2																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(2101-2103)aAg>aGg		Homo sapiens zinc finger CCCH-type containing 12C (ZC3H12C), mRNA.							158.0	182.0	174.0					11																	110035909		2122	4233	6355	SO:0001583	missense	85463						endonuclease activity|nucleic acid binding|zinc ion binding	g.chr11:110035909A>G		CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2099A>G	11.37:g.110035909A>G	ENSP00000278590:p.Lys700Arg					ZC3H12C_uc009yxw.3_Missense_Mutation_p.K700R|ZC3H12C_uc010rwd.2_Missense_Mutation_p.K701R|ZC3H12C_uc001pkr.4_Missense_Mutation_p.K669R	p.K701R	NM_033390	NP_203748	Q9C0D7	ZC12C_HUMAN		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)	5	2102	+		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	700					B4DI65|B4DR47	Missense_Mutation	SNP	ENST00000278590.3	37	c.2102A>G	CCDS44727.1	.	.	.	.	.	.	.	.	.	.	A	23.8	4.454200	0.84209	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.38077	1.16;1.16;1.19	5.94	4.82	0.62117	.	0.217538	0.48286	D	0.000188	T	0.39627	0.1085	L	0.49126	1.545	0.40954	D	0.984568	D;D;D	0.59767	0.986;0.971;0.986	P;P;P	0.49922	0.626;0.572;0.626	T	0.17410	-1.0370	10	0.32370	T	0.25	-27.6444	11.4763	0.50300	0.9304:0.0:0.0696:0.0	.	701;700;700	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	R	700;701;669	ENSP00000278590:K700R;ENSP00000431821:K701R;ENSP00000413094:K669R	ENSP00000278590:K700R	K	+	2	0	ZC3H12C	109541119	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.175000	0.77632	2.272000	0.75746	0.459000	0.35465	AAG		0.587	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390491.1	NM_033390		12	311	0	0	0	1	0	12	311				
SULT1A1	6817	broad.mit.edu	37	16	28620147	28620147	+	Silent	SNP	C	C	T	rs368999670		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr16:28620147C>T	ENST00000395607.1	-	2	303	c.30G>A	c.(28-30)ccG>ccA	p.P10P	SULT1A1_ENST00000395609.1_Silent_p.P10P|SULT1A1_ENST00000350842.4_Intron|SULT1A1_ENST00000569554.1_Silent_p.P10P|SULT1A1_ENST00000314752.7_Silent_p.P10P	NM_177530.2|NM_177534.2	NP_803566.1|NP_803878.1	P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	10					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|amine metabolic process (GO:0009308)|catecholamine metabolic process (GO:0006584)|estrogen metabolic process (GO:0008210)|flavonoid metabolic process (GO:0009812)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	aryl sulfotransferase activity (GO:0004062)|flavonol 3-sulfotransferase activity (GO:0047894)|steroid sulfotransferase activity (GO:0050294)|sulfotransferase activity (GO:0008146)			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16					Acetaminophen(DB00316)|Tamoxifen(DB00675)	ACTCCAGTGGCGGGCGGGAGG	0.607																																						uc002dqn.3																			0		p.P100L(1)		endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						c.(301-303)ccG>ccA		Homo sapiens sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1 (SULT1A1), transcript variant 4, mRNA.		C	,,,,	2,4392		0,2,2195	49.0	51.0	51.0		30,30,30,30,	-4.8	0.0	16		51	1,8599		0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,intron	SULT1A1	NM_001055.3,NM_177529.2,NM_177530.2,NM_177534.2,NM_177536.3	,,,,	0,3,6494	TT,TC,CC		0.0116,0.0455,0.0231	,,,,	10/296,10/296,10/296,10/296,	28620147	3,12991	2197	4300	6497	SO:0001819	synonymous_variant	6817				3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity	g.chr16:28620147C>T	U52852	CCDS10637.1, CCDS32420.1	16p12.1	2008-02-05			ENSG00000196502	ENSG00000196502	2.8.2.1	"""Sulfotransferases, cytosolic"""	11453	protein-coding gene	gene with protein product		171150		STP, STP1		8288252, 8912648	Standard	NM_177534		Approved	P-PST	uc002dqj.3	P50225	OTTHUMG00000131765	ENST00000395607.1:c.30G>A	16.37:g.28620147C>T						NPIPL1_uc010vct.2_Intron|SULT1A1_uc002dqj.3_Silent_p.P10P|SULT1A1_uc002dqi.3_Silent_p.P10P|SULT1A1_uc002dqk.3_Silent_p.P10P|SULT1A1_uc002dql.3_Silent_p.P10P|SULT1A1_uc002dqm.3_Intron|SULT1A1_uc002dqp.3_Silent_p.P10P	p.P101P	NM_177534	NP_803878	P50225	ST1A1_HUMAN			4	895	-			10					Q2NL71|Q86U58|Q92818|Q9BVU6|Q9UGG7	Silent	SNP	ENST00000395607.1	37	c.303G>A	CCDS32420.1																																																																																				0.607	SULT1A1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254694.2	NM_001055		14	77	0	0	0	1	0	14	77				
PDE4DIP	9659	broad.mit.edu	37	1	144859906	144859906	+	Missense_Mutation	SNP	G	G	T	rs182136884		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:144859906G>T	ENST00000369354.3	-	38	6367	c.6178C>A	c.(6178-6180)Cag>Aag	p.Q2060K	PDE4DIP_ENST00000530740.1_Missense_Mutation_p.Q2145K|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.Q2196K|PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.Q2060K|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.Q1954K			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2060					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAATGCTCTGCTCCAGCTGC	0.577			T	PDGFRB	MPD																																	uc021ouh.1				Dom	yes		1	1q12	9659	T	phosphodiesterase 4D interacting protein (myomegalin)			L	PDGFRB		MPD		0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176						c.(6178-6180)Cag>Aag		Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.							82.0	77.0	79.0					1																	144859906		2203	4298	6501	SO:0001583	missense	9659				cellular protein complex assembly	Golgi apparatus|centrosome|myofibril|nucleus	enzyme binding	g.chr1:144859906G>T	AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.6178C>A	1.37:g.144859906G>T	ENSP00000358360:p.Gln2060Lys					NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.Q2060K|PDE4DIP_uc001elx.4_Missense_Mutation_p.Q1954K|PDE4DIP_uc001elv.4_Missense_Mutation_p.Q1067K	p.Q2060K	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN		Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)	37	6480	-			2060					A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	ENST00000369354.3	37	c.6178C>A	CCDS30824.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	1.396	-0.579398	0.03854	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000530740;ENST00000369359	T;T;T;T;T	0.01505	4.82;4.91;4.91;4.92;4.91	5.1	0.961	0.19638	.	.	.	.	.	T	0.00608	0.0020	L	0.43152	1.355	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.0	T	0.45731	-0.9241	9	0.34782	T	0.22	.	2.6421	0.04974	0.1614:0.2665:0.4356:0.1366	.	1954;2060	Q5VU43-3;Q5VU43	.;MYOME_HUMAN	K	1954;2060;2060;2145;2196	ENSP00000327209:Q1954K;ENSP00000358360:Q2060K;ENSP00000358363:Q2060K;ENSP00000435654:Q2145K;ENSP00000358366:Q2196K	ENSP00000327209:Q1954K	Q	-	1	0	PDE4DIP	143571263	0.990000	0.36364	0.996000	0.52242	0.001000	0.01503	0.798000	0.27014	0.255000	0.21593	-0.894000	0.02916	CAG		0.577	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000038858.2	NM_022359		8	135	0	0	0	1	0	8	135				
LSR	51599	broad.mit.edu	37	19	35757281	35757281	+	Silent	SNP	A	A	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr19:35757281A>T	ENST00000361790.3	+	6	1101	c.942A>T	c.(940-942)gcA>gcT	p.A314A	AD000684.2_ENST00000602262.1_RNA|LSR_ENST00000360798.3_Silent_p.A246A|LSR_ENST00000347609.4_Silent_p.A277A|LSR_ENST00000354900.3_Silent_p.A295A|USF2_ENST00000222305.3_5'Flank|USF2_ENST00000594064.1_5'Flank|USF2_ENST00000343550.5_5'Flank|USF2_ENST00000595068.1_5'Flank|LSR_ENST00000427250.1_Silent_p.A158A|LSR_ENST00000602122.1_Silent_p.A295A|USF2_ENST00000379134.3_5'Flank	NM_205834.3	NP_991403.1	Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	314					embryo development (GO:0009790)|liver development (GO:0001889)	chylomicron (GO:0042627)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCGGCAAAGCAGCCACCTCAG	0.617																																						uc002nyl.3																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13						c.(940-942)gcA>gcT		Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.							89.0	89.0	89.0					19																	35757281		2203	4300	6503	SO:0001819	synonymous_variant	51599				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity	g.chr19:35757281A>T	AF130366	CCDS12449.1, CCDS12450.1, CCDS12451.1, CCDS59376.1	19q13.12	2013-01-11			ENSG00000105699	ENSG00000105699		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29572	protein-coding gene	gene with protein product	"""lipolysis-stimulated remnant"", ""immunoglobulin-like domain containing receptor 3"""					10224102	Standard	NM_015925		Approved	LISCH7, ILDR3	uc002nyl.3	Q86X29		ENST00000361790.3:c.942A>T	19.37:g.35757281A>T						LSR_uc010xsr.2_Silent_p.A206A|LSR_uc002nym.3_Silent_p.A295A|LSR_uc002nyn.3_Silent_p.A246A|LSR_uc002nyo.3_Silent_p.A295A|LSR_uc002nyp.3_Silent_p.A277A|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank	p.A314A	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		5	1165	+	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		314					A6NDW3|B4DKL4|E9PHD4|O00112|O00426|Q6ZT80|Q8NBM0|Q9BT33|Q9UQL3	Silent	SNP	ENST00000361790.3	37	c.942A>T	CCDS12450.1																																																																																				0.617	LSR-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465513.2	NM_015925		7	202	0	0	0	1	0	7	202				
ITPR2	3709	broad.mit.edu	37	12	26731693	26731693	+	Missense_Mutation	SNP	G	G	A	rs200190856		TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr12:26731693G>A	ENST00000381340.3	-	34	4999	c.4583C>T	c.(4582-4584)gCg>gTg	p.A1528V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1528					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	GGCTTTCTGCGCTGGGTTTGG	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		16488	0.001		0.0	False		,,,				2504	0.0					uc001rhg.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(4582-4584)gCg>gTg		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.							120.0	117.0	118.0					12																	26731693		1861	4096	5957	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26731693G>A	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.4583C>T	12.37:g.26731693G>A	ENSP00000370744:p.Ala1528Val						p.A1528V	NM_002223	NP_002214	Q14571	ITPR2_HUMAN			33	5000	-	Colorectal(261;0.0847)		1528					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.4583C>T	CCDS41764.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	3.368	-0.128998	0.06753	.	.	ENSG00000123104	ENST00000381340	T	0.63913	-0.07	5.12	2.18	0.27775	.	0.641709	0.16752	N	0.200981	T	0.43100	0.1232	N	0.19112	0.55	0.09310	N	0.999999	B	0.19073	0.033	B	0.11329	0.006	T	0.31138	-0.9954	10	0.38643	T	0.18	.	8.9605	0.35845	0.1441:0.126:0.7298:0.0	.	1528	Q14571	ITPR2_HUMAN	V	1528	ENSP00000370744:A1528V	ENSP00000370744:A1528V	A	-	2	0	ITPR2	26622960	0.010000	0.17322	0.002000	0.10522	0.138000	0.21146	1.779000	0.38624	1.379000	0.46325	0.585000	0.79938	GCG		0.393	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		12	123	0	0	0	1	0	12	123				
ZBTB22	9278	broad.mit.edu	37	6	33283595	33283595	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr6:33283595G>A	ENST00000431845.2	-	2	1250	c.1099C>T	c.(1099-1101)Ccc>Tcc	p.P367S	TAPBP_ENST00000456592.2_5'Flank|TAPBP_ENST00000475304.1_5'Flank|TAPBP_ENST00000489157.1_5'Flank|TAPBP_ENST00000434618.2_5'Flank|TAPBP_ENST00000426633.2_5'Flank|ZBTB22_ENST00000418724.1_Missense_Mutation_p.P367S	NM_005453.4	NP_005444.4	O15209	ZBT22_HUMAN	zinc finger and BTB domain containing 22	367					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						TTGTCTGGGGGCTCACTCAGG	0.577																																						uc003oeb.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3)	21						c.(1099-1101)Ccc>Tcc		Homo sapiens zinc finger and BTB domain containing 22 (ZBTB22), transcript variant 1, mRNA.							113.0	111.0	112.0					6																	33283595		2203	4300	6503	SO:0001583	missense	9278				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:33283595G>A	Z97183	CCDS4775.1	6p21.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000236104	ENSG00000236104		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13085	protein-coding gene	gene with protein product		611439	"""zinc finger protein 297"""	ZNF297			Standard	NM_005453		Approved	BING1, ZNF297A, fruitless, fru, ZBTB22A	uc010juu.3	O15209	OTTHUMG00000031110	ENST00000431845.2:c.1099C>T	6.37:g.33283595G>A	ENSP00000407545:p.Pro367Ser					TAPBP_uc003odx.2_5'Flank|TAPBP_uc010jut.2_5'Flank|TAPBP_uc003odz.3_5'Flank|TAPBP_uc003ody.3_5'Flank|TAPBP_uc011drc.2_5'Flank|ZBTB22_uc010juu.3_Missense_Mutation_p.P367S|ZBTB22_uc021ywm.1_Missense_Mutation_p.P367S	p.P367S	NM_005453	NP_005444	O15209	ZBT22_HUMAN			1	1251	-			367					B0V007|Q5HYV4|Q5STL0|Q5STR7|Q8WV82	Missense_Mutation	SNP	ENST00000431845.2	37	c.1099C>T	CCDS4775.1	.	.	.	.	.	.	.	.	.	.	G	6.310	0.425258	0.11987	.	.	ENSG00000236104	ENST00000418724;ENST00000431845	T;T	0.05447	3.44;3.44	4.09	4.09	0.47781	.	0.000000	0.33346	N	0.005015	T	0.01940	0.0061	L	0.38175	1.15	0.33034	D	0.530528	P	0.47762	0.9	B	0.38954	0.286	T	0.45071	-0.9286	10	0.09338	T	0.73	.	13.8509	0.63496	0.0:0.0:1.0:0.0	.	367	O15209	ZBT22_HUMAN	S	367	ENSP00000404403:P367S;ENSP00000407545:P367S	ENSP00000404403:P367S	P	-	1	0	ZBTB22	33391573	1.000000	0.71417	0.989000	0.46669	0.778000	0.44026	3.538000	0.53597	2.107000	0.64212	0.448000	0.29417	CCC		0.577	ZBTB22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076183.2			14	156	0	0	0	1	0	14	156				
PAK3	5063	broad.mit.edu	37	X	110406220	110406220	+	Missense_Mutation	SNP	A	A	T			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chrX:110406220A>T	ENST00000372010.1	+	10	1033	c.591A>T	c.(589-591)gaA>gaT	p.E197D	PAK3_ENST00000446737.1_Missense_Mutation_p.E182D|PAK3_ENST00000417227.1_Missense_Mutation_p.E203D|PAK3_ENST00000425146.1_Missense_Mutation_p.E182D|PAK3_ENST00000519681.1_Missense_Mutation_p.E203D|PAK3_ENST00000262836.4_Missense_Mutation_p.E197D|PAK3_ENST00000518291.1_Missense_Mutation_p.E218D|PAK3_ENST00000372007.5_Missense_Mutation_p.E182D|PAK3_ENST00000360648.4_Missense_Mutation_p.E218D			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	197	Linker.|Poly-Glu.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E182D(1)|p.E218D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						aagaagaagaagatgaaAATG	0.403										TSP Lung(19;0.15)																												uc010npv.1																			2	Substitution - Missense(2)	p.E182D(1)|p.E218D(1)	endometrium(2)	breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(652-654)gaA>gaT		Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.							156.0	136.0	143.0					X																	110406220		2203	4300	6503	SO:0001583	missense	5063				multicellular organismal development		ATP binding|SH3 domain binding|metal ion binding|protein serine/threonine kinase activity	g.chrX:110406220A>T	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.591A>T	X.37:g.110406220A>T	ENSP00000361080:p.Glu197Asp	TSP Lung(19;0.15)				PAK3_uc010npt.1_Missense_Mutation_p.E182D|PAK3_uc010npu.1_Missense_Mutation_p.E182D|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_Missense_Mutation_p.E182D|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_Missense_Mutation_p.E203D|PAK3_uc004epa.2_Missense_Mutation_p.E197D	p.E218D	NM_001128168	NP_001121640	O75914	PAK3_HUMAN			6	681	+			197			Linker.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Missense_Mutation	SNP	ENST00000372010.1	37	c.654A>T	CCDS48153.1	.	.	.	.	.	.	.	.	.	.	A	12.00	1.807573	0.31961	.	.	ENSG00000077264	ENST00000446737;ENST00000425146;ENST00000372010;ENST00000519681;ENST00000372007;ENST00000518291;ENST00000360648;ENST00000417227;ENST00000262836	T;T;T;T;T;T;T;T;T	0.73047	-0.69;-0.69;-0.71;-0.71;-0.69;-0.7;-0.7;-0.71;-0.71	5.95	3.63	0.41609	.	0.063753	0.64402	D	0.000011	T	0.40272	0.1110	N	0.05441	-0.05	0.36081	D	0.842782	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.001;0.001;0.001	T	0.40590	-0.9555	10	0.06365	T	0.9	.	4.7506	0.13059	0.7052:0.0:0.1397:0.155	.	203;218;197;182	O75914-4;O75914-3;O75914;O75914-2	.;.;PAK3_HUMAN;.	D	182;182;197;203;182;218;218;203;197	ENSP00000410853:E182D;ENSP00000401982:E182D;ENSP00000361080:E197D;ENSP00000429113:E203D;ENSP00000361077:E182D;ENSP00000428921:E218D;ENSP00000353864:E218D;ENSP00000389172:E203D;ENSP00000262836:E197D	ENSP00000262836:E197D	E	+	3	2	PAK3	110292876	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	1.057000	0.30492	1.999000	0.58509	0.486000	0.48141	GAA		0.403	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		4	117	0	0	0	1	0	4	117				
UGT2B7	7364	broad.mit.edu	37	4	69962710	69962710	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr4:69962710G>A	ENST00000508661.1	+	1	499	c.472G>A	c.(472-474)Gag>Aag	p.E158K	UGT2B7_ENST00000305231.7_Missense_Mutation_p.E158K|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	158					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCCCTGTAGTGAGCTGCTGGC	0.368																																						uc003heg.4																			0				autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(472-474)Gag>Aag		Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.							137.0	137.0	137.0					4																	69962710		2203	4299	6502	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69962710G>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.472G>A	4.37:g.69962710G>A	ENSP00000427659:p.Glu158Lys					UGT2B7_uc010ihq.3_Missense_Mutation_p.E158K	p.E158K	NM_001074	NP_001065	P16662	UD2B7_HUMAN			0	518	+			158					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000508661.1	37	c.472G>A		.	.	.	.	.	.	.	.	.	.	G	16.20	3.055578	0.55325	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60548	0.18;0.18	2.54	2.54	0.30619	.	0.081913	0.47852	U	0.000201	T	0.77116	0.4083	M	0.92604	3.325	0.26437	N	0.975838	P;P	0.51147	0.942;0.736	P;P	0.62435	0.902;0.641	T	0.69665	-0.5084	9	.	.	.	.	10.7765	0.46353	0.0:0.0:1.0:0.0	.	158;158	E9PBP8;P16662	.;UD2B7_HUMAN	K	158	ENSP00000304811:E158K;ENSP00000427659:E158K	.	E	+	1	0	UGT2B7	69997299	1.000000	0.71417	0.539000	0.28077	0.027000	0.11550	5.430000	0.66501	1.408000	0.46895	0.313000	0.20887	GAG		0.368	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000362103.1	NM_001074		36	117	0	0	0	1	0	36	117				
KLHL41	10324	broad.mit.edu	37	2	170367185	170367185	+	Silent	SNP	A	A	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr2:170367185A>C	ENST00000284669.1	+	1	974	c.897A>C	c.(895-897)ggA>ggC	p.G299G	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	299					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											CCAGGCATGGAATGTTTGTAA	0.473																																						uc002ueu.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						c.(895-897)ggA>ggC		Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.							139.0	139.0	139.0					2																	170367185		2203	4300	6503	SO:0001819	synonymous_variant	10324				striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle		g.chr2:170367185A>C	AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.897A>C	2.37:g.170367185A>C						KBTBD10_uc010zdh.1_Intron	p.G299G	NM_006063	NP_006054	O60662	KBTBA_HUMAN			0	974	+			299					Q53R42	Silent	SNP	ENST00000284669.1	37	c.897A>C	CCDS2234.1																																																																																				0.473	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255263.1	NM_006063		3	80	0	0	0	1	0	3	80				
SRPR	6734	broad.mit.edu	37	11	126134958	126134958	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:126134958G>A	ENST00000332118.6	-	11	1575	c.1421C>T	c.(1420-1422)gCc>gTc	p.A474V	SRPR_ENST00000532259.1_Missense_Mutation_p.A446V|SRPR_ENST00000530680.1_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	474					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AGGGTGTAGGGCACTCAAACG	0.552																																						uc001qdh.3																			0				endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(1420-1422)gCc>gTc		Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.							71.0	64.0	66.0					11																	126134958		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126134958G>A	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1421C>T	11.37:g.126134958G>A	ENSP00000328023:p.Ala474Val					SRPR_uc010sbm.2_Missense_Mutation_p.A446V	p.A474V	NM_003139	NP_003130	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	10	1599	-	all_hematologic(175;0.145)		474					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.1421C>T	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	36	5.667473	0.96745	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.26	5.26	0.73747	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.106814	0.64402	D	0.000004	T	0.71256	0.3318	L	0.57536	1.79	0.80722	D	1	P;P	0.45768	0.775;0.866	P;P	0.51974	0.686;0.686	T	0.71318	-0.4629	9	0.49607	T	0.09	-16.4354	19.0619	0.93096	0.0:0.0:1.0:0.0	.	446;474	E9PJS4;P08240	.;SRPR_HUMAN	V	474;446	.	ENSP00000328023:A474V	A	-	2	0	SRPR	125640168	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.411000	0.97342	2.744000	0.94065	0.650000	0.86243	GCC		0.552	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		3	49	0	0	0	1	0	3	49				
ROCK1P1	727758	broad.mit.edu	37	18	120732	120732	+	RNA	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr18:120732G>A	ENST00000608049.1	+	0	970					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		TTGTGGAATCGTGTGGGATGC	0.423																																						uc002kke.3																			0													Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1 (ROCK1P1), non-coding RNA.																																						727758							g.chr18:120732G>A			18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.120732G>A														4		+									RNA	SNP	ENST00000608049.1	37	c.970G>A																																																																																					0.423	ROCK1P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000472417.1			4	54	0	0	0	1	0	4	54				
MOV10	4343	broad.mit.edu	37	1	113241362	113241362	+	Missense_Mutation	SNP	C	C	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr1:113241362C>G	ENST00000413052.2	+	17	2924	c.2534C>G	c.(2533-2535)aCc>aGc	p.T845S	MOV10_ENST00000468624.1_3'UTR|MOV10_ENST00000369644.1_Missense_Mutation_p.T789S|RP11-426L16.3_ENST00000421943.1_RNA|MOV10_ENST00000357443.2_Missense_Mutation_p.T845S|MOV10_ENST00000369645.1_Missense_Mutation_p.T845S	NM_001130079.1|NM_020963.3	NP_001123551.1|NP_066014.1	Q9HCE1	MOV10_HUMAN	Mov10 RISC complex RNA helicase	845					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|extracellular space (GO:0005615)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TACTGCATCACCAAACTTGAC	0.557																																						uc001eck.3																			0				breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38						c.(2533-2535)aCc>aGc		Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.							302.0	271.0	281.0					1																	113241362		2203	4300	6503	SO:0001583	missense	4343				mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|RNA binding|helicase activity|protein binding	g.chr1:113241362C>G	AL833353	CCDS853.1, CCDS65615.1	1p13.2	2014-07-02	2014-07-02		ENSG00000155363	ENSG00000155363			7200	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 113"""	610742	"""Mov10 (Moloney leukemia virus 10, mouse) homolog"", ""Mov10, Moloney leukemia virus 10, homolog (mouse)"""			12226669	Standard	NM_001286072		Approved	gb110, MGC2948, fSAP113	uc001eck.3	Q9HCE1	OTTHUMG00000011906	ENST00000413052.2:c.2534C>G	1.37:g.113241362C>G	ENSP00000399797:p.Thr845Ser					MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Missense_Mutation_p.T845S|MOV10_uc001ecm.3_Missense_Mutation_p.T785S	p.T845S	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)	16	2804	+	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)	845					Q5JR03|Q8TEF0|Q9BSY3|Q9BUJ9	Missense_Mutation	SNP	ENST00000413052.2	37	c.2534C>G	CCDS853.1	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706939	0.48412	.	.	ENSG00000155363	ENST00000413052;ENST00000369645;ENST00000369644;ENST00000357443;ENST00000369648	D;D;D;D	0.92099	-2.97;-2.97;-2.97;-2.97	4.85	4.85	0.62838	.	0.302551	0.36303	N	0.002680	T	0.74435	0.3716	N	0.13003	0.285	0.80722	D	1	B	0.19200	0.034	B	0.28385	0.089	T	0.69741	-0.5063	10	0.15066	T	0.55	-18.6234	9.2376	0.37475	0.0:0.9006:0.0:0.0994	.	845	Q9HCE1	MOV10_HUMAN	S	845;845;789;845;783	ENSP00000399797:T845S;ENSP00000358659:T845S;ENSP00000358658:T789S;ENSP00000350028:T845S	ENSP00000350028:T845S	T	+	2	0	MOV10	113042885	0.986000	0.35501	1.000000	0.80357	0.986000	0.74619	2.787000	0.47798	2.241000	0.73720	0.313000	0.20887	ACC		0.557	MOV10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032906.1	NM_020963		4	283	0	0	0	1	0	4	283				
MAGEB3	4114	broad.mit.edu	37	X	30254993	30254993	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chrX:30254993G>A	ENST00000361644.2	+	5	1689	c.952G>A	c.(952-954)Gtc>Atc	p.V318I		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	318										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						GGAAGAAAGAGTCCAAGCTGC	0.502																																						uc004dca.2																			0		p.V318V(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						c.(952-954)Gtc>Atc		Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.							85.0	71.0	76.0					X																	30254993		2202	4300	6502	SO:0001583	missense	4114							g.chrX:30254993G>A	AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.952G>A	X.37:g.30254993G>A	ENSP00000355198:p.Val318Ile					MAGEB3_uc022bug.1_Missense_Mutation_p.V318I	p.V318I	NM_002365	NP_002356	O15480	MAGB3_HUMAN			4	1689	+			318					A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	ENST00000361644.2	37	c.952G>A	CCDS14220.1	.	.	.	.	.	.	.	.	.	.	G	10.33	1.320572	0.23994	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.01665	4.7;4.7	4.01	1.47	0.22746	.	1.209690	0.06625	U	0.758179	T	0.02455	0.0075	L	0.47190	1.495	0.09310	N	1	B	0.15930	0.015	B	0.15870	0.014	T	0.46331	-0.9199	10	0.87932	D	0	.	5.3521	0.16042	0.3695:0.0:0.6305:0.0	.	318	O15480	MAGB3_HUMAN	I	318	ENSP00000368271:V318I;ENSP00000355198:V318I	ENSP00000355198:V318I	V	+	1	0	MAGEB3	30164914	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.569000	0.05902	0.172000	0.19760	-0.192000	0.12808	GTC		0.502	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056158.2	NM_002365		3	40	0	0	0	1	0	3	40				
SUPV3L1	6832	broad.mit.edu	37	10	70968592	70968592	+	Missense_Mutation	SNP	C	C	G			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr10:70968592C>G	ENST00000359655.4	+	15	2222	c.2162C>G	c.(2161-2163)aCt>aGt	p.T721S		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	721	Interaction with LAMTOR5, important for protein stability.				ATP catabolic process (GO:0006200)|chromatin maintenance (GO:0070827)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|mitochondrial mRNA catabolic process (GO:0000958)|mitochondrial mRNA surveillance (GO:0035946)|mitochondrial ncRNA surveillance (GO:0035945)|mitochondrial RNA 3'-end processing (GO:0000965)|mitochondrial RNA surveillance (GO:2000827)|mitochondrion morphogenesis (GO:0070584)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial RNA catabolic process (GO:0000962)|RNA catabolic process (GO:0006401)	mitochondrial degradosome (GO:0045025)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	3'-5' RNA helicase activity (GO:0034458)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTAAAGCTACTGAGCCACCC	0.537																																						uc001jpe.1																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(2161-2163)aCt>aGt		Homo sapiens suppressor of var1, 3-like 1 (S. cerevisiae) (SUPV3L1), mRNA.							76.0	70.0	72.0					10																	70968592		2203	4300	6503	SO:0001583	missense	6832				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding	g.chr10:70968592C>G	AF042169	CCDS7287.1	10q22.1	2008-08-01	2001-11-28		ENSG00000156502	ENSG00000156502			11471	protein-coding gene	gene with protein product		605122	"""suppressor of var1 (S.cerevisiae) 3-like 1"""			9925937, 16176273	Standard	XM_005270068		Approved	SUV3	uc001jpe.1	Q8IYB8	OTTHUMG00000018375	ENST00000359655.4:c.2162C>G	10.37:g.70968592C>G	ENSP00000352678:p.Thr721Ser					SUPV3L1_uc010qjd.1_Missense_Mutation_p.T590S	p.T721S	NM_003171	NP_003162	Q8IYB8	SUV3_HUMAN			14	2217	+			721			Interaction with HBXIP, important for protein stability.		A8K301|O43630	Missense_Mutation	SNP	ENST00000359655.4	37	c.2162C>G	CCDS7287.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.724526	0.00694	.	.	ENSG00000156502	ENST00000359655	T	0.28895	1.59	5.9	2.74	0.32292	.	0.805242	0.11393	N	0.568601	T	0.12902	0.0313	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.31586	-0.9938	10	0.09338	T	0.73	0.0536	6.3229	0.21227	0.0:0.5484:0.1342:0.3174	.	721	Q8IYB8	SUV3_HUMAN	S	721	ENSP00000352678:T721S	ENSP00000352678:T721S	T	+	2	0	SUPV3L1	70638598	0.000000	0.05858	0.044000	0.18714	0.047000	0.14425	0.242000	0.18087	1.372000	0.46190	0.650000	0.86243	ACT		0.537	SUPV3L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048396.2	NM_003171		3	83	0	0	0	1	0	3	83				
ZNF611	81856	broad.mit.edu	37	19	53208567	53208567	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr19:53208567G>C	ENST00000319783.1	-	7	2057	c.1741C>G	c.(1741-1743)Ctt>Gtt	p.L581V	ZNF611_ENST00000602046.1_5'Flank|ZNF611_ENST00000595798.1_Missense_Mutation_p.L512V|ZNF611_ENST00000543227.1_Missense_Mutation_p.L581V|ZNF611_ENST00000540744.1_Missense_Mutation_p.L581V|ZNF611_ENST00000602162.1_Missense_Mutation_p.L512V|ZNF611_ENST00000453741.2_Missense_Mutation_p.L512V	NM_030972.3	NP_112234.3	Q8N823	ZN611_HUMAN	zinc finger protein 611	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGGCATACAAGGTATGACCTG	0.438																																						uc002pzz.3																			0				breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1741-1743)Ctt>Gtt		Homo sapiens zinc finger protein 611 (ZNF611), transcript variant 1, mRNA.							262.0	238.0	246.0					19																	53208567		2203	4300	6503	SO:0001583	missense	81856				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53208567G>C	AK091389	CCDS12855.1, CCDS54312.1	19q13.42	2013-01-08			ENSG00000213020	ENSG00000213020		"""Zinc fingers, C2H2-type"", ""-"""	28766	protein-coding gene	gene with protein product						12477932	Standard	NM_030972		Approved	MGC5384	uc010ydq.2	Q8N823	OTTHUMG00000154908	ENST00000319783.1:c.1741C>G	19.37:g.53208567G>C	ENSP00000322427:p.Leu581Val					ZNF611_uc010eqc.3_Missense_Mutation_p.L511V|ZNF611_uc010ydo.2_Missense_Mutation_p.L511V|ZNF611_uc010ydp.2_Missense_Mutation_p.L581V|ZNF611_uc010ydq.2_Missense_Mutation_p.L581V|ZNF611_uc010ydr.2_Missense_Mutation_p.L512V|ZNF611_uc002qaa.4_Missense_Mutation_p.L511V|ZNF611_uc021uyy.1_Missense_Mutation_p.L512V	p.L581V	NM_030972	NP_001154973	Q8N823	ZN611_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)	6	2058	-			581					B3KRD5|Q69YG9	Missense_Mutation	SNP	ENST00000319783.1	37	c.1741C>G	CCDS12855.1	.	.	.	.	.	.	.	.	.	.	.	10.03	1.238397	0.22711	.	.	ENSG00000213020	ENST00000543227;ENST00000540744;ENST00000453741;ENST00000319783	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	1.58	-1.42	0.08913	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.63200	0.2491	M	0.83012	2.62	0.09310	N	1	D	0.69078	0.997	D	0.69654	0.965	T	0.53457	-0.8436	9	0.66056	D	0.02	.	5.6345	0.17528	0.4699:0.0:0.5301:0.0	.	581	Q8N823	ZN611_HUMAN	V	581;581;512;581	ENSP00000437616:L581V;ENSP00000439211:L581V;ENSP00000443505:L512V;ENSP00000322427:L581V	ENSP00000322427:L581V	L	-	1	0	ZNF611	57900379	0.027000	0.19231	0.000000	0.03702	0.001000	0.01503	0.385000	0.20685	-0.501000	0.06605	-0.643000	0.03959	CTT		0.438	ZNF611-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337612.1	NM_030972		19	399	0	0	0	1	0	19	399				
ELMO1	9844	broad.mit.edu	37	7	37172827	37172827	+	Missense_Mutation	SNP	G	G	C			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr7:37172827G>C	ENST00000310758.4	-	14	1746	c.1099C>G	c.(1099-1101)Cct>Gct	p.P367A	ELMO1_ENST00000448602.1_Missense_Mutation_p.P367A|ELMO1_ENST00000341056.3_Missense_Mutation_p.P69A|ELMO1_ENST00000442504.1_Missense_Mutation_p.P367A	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	367	ELMO. {ECO:0000255|PROSITE- ProRule:PRU00664}.				actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCCATGGCAGGGTTGACATGA	0.463																																						uc022abv.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						c.(1099-1101)Cct>Gct		Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.							143.0	123.0	130.0					7																	37172827		2203	4300	6503	SO:0001583	missense	9844				Rac protein signal transduction|actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	g.chr7:37172827G>C	AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.1099C>G	7.37:g.37172827G>C	ENSP00000312185:p.Pro367Ala					ELMO1_uc011kbc.2_Missense_Mutation_p.P271A|ELMO1_uc003tfk.2_Missense_Mutation_p.P367A|ELMO1_uc010kxg.2_Missense_Mutation_p.P367A	p.P367A	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN			13	1809	-			367			ELMO.		A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	ENST00000310758.4	37	c.1099C>G	CCDS5449.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.668918	0.88348	.	.	ENSG00000155849	ENST00000341056;ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602	T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01	5.27	5.27	0.74061	Engulfment/cell motility, ELMO (2);	0.000000	0.85682	D	0.000000	T	0.80048	0.4552	M	0.80508	2.5	0.80722	D	1	D	0.67145	0.996	D	0.67900	0.954	T	0.82675	-0.0340	10	0.87932	D	0	.	18.0472	0.89336	0.0:0.0:1.0:0.0	.	367	Q92556	ELMO1_HUMAN	A	69;367;271;367;367	ENSP00000342142:P69A;ENSP00000312185:P367A;ENSP00000406952:P367A;ENSP00000394458:P367A	ENSP00000312185:P367A	P	-	1	0	ELMO1	37139352	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.813000	0.91963	2.650000	0.89964	0.655000	0.94253	CCT		0.463	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442		32	71	0	0	0	1	0	32	71				
SYT12	91683	broad.mit.edu	37	11	66807525	66807525	+	Missense_Mutation	SNP	G	G	A			TCGA-FK-A3SD-01A-11D-A22D-08	TCGA-FK-A3SD-10A-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29578759-9ccb-4a24-b5b8-c45ebd4339d9	5c09f3b8-8071-4e82-ab50-7e9cc41413fd	g.chr11:66807525G>A	ENST00000393946.2	+	7	1634	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	SYT12_ENST00000525457.1_Missense_Mutation_p.V158M|SYT12_ENST00000526281.1_3'UTR|SYT12_ENST00000527043.1_Missense_Mutation_p.V158M			Q8IV01	SYT12_HUMAN	synaptotagmin XII	158						cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|synapse (GO:0045202)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						CCAGGTGGAGGTGAGCATGGA	0.627																																					Ovarian(65;2862 3307)	uc009yrl.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						c.(472-474)Gtg>Atg		Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.							76.0	69.0	72.0					11																	66807525		2200	4295	6495	SO:0001583	missense	91683					cell junction|integral to membrane|synaptic vesicle membrane		g.chr11:66807525G>A	AK024280	CCDS8154.1	11q13.2	2014-07-02			ENSG00000173227	ENSG00000173227		"""Synaptotagmins"""	18381	protein-coding gene	gene with protein product		606436				8987811	Standard	NM_177963		Approved	SRG1	uc001oju.3	Q8IV01	OTTHUMG00000167101	ENST00000393946.2:c.472G>A	11.37:g.66807525G>A	ENSP00000377520:p.Val158Met					SYT12_uc001oju.3_Missense_Mutation_p.V158M	p.V158M	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN			3	702	+			158						Missense_Mutation	SNP	ENST00000393946.2	37	c.472G>A	CCDS8154.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648710	0.87958	.	.	ENSG00000173227	ENST00000393946;ENST00000525457;ENST00000527043	T;T;T	0.73152	-0.72;-0.72;-0.72	5.63	5.63	0.86233	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.77405	0.4125	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	T	0.79642	-0.1718	10	0.87932	D	0	.	17.1708	0.86830	0.0:0.0:1.0:0.0	.	158	Q8IV01	SYT12_HUMAN	M	158	ENSP00000377520:V158M;ENSP00000431400:V158M;ENSP00000435316:V158M	ENSP00000377520:V158M	V	+	1	0	SYT12	66564101	1.000000	0.71417	1.000000	0.80357	0.814000	0.46013	9.813000	0.99286	2.655000	0.90218	0.462000	0.41574	GTG		0.627	SYT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393129.1	NM_177963		5	113	0	0	0	1	0	5	113				
