#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
UPF3A	65110	broad.mit.edu	37	13	115047559	115047559	+	Silent	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr13:115047559C>T	ENST00000375299.3	+	2	327	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	UPF3A_ENST00000351487.5_Silent_p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	UPF3 regulator of nonsense transcripts homolog A (yeast)	91	Required for interaction with UPF2.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleocytoplasmic transport (GO:0006913)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.L91L(8)		autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)		GCTGCGCCCGCTGCCAGCACA	0.731																																						ENST00000375299.3																			8	Substitution - coding silent(8)	p.L91L(8)	lung(2)|prostate(2)|kidney(2)|central_nervous_system(2)	autonomic_ganglia(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	16						c.(271-273)Ctg>Ttg		UPF3 regulator of nonsense transcripts homolog A (yeast)							4.0	4.0	4.0					13																	115047559		1902	3804	5706	SO:0001819	synonymous_variant	65110				mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|nucleus|plasma membrane	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding	g.chr13:115047559C>T	AF318575	CCDS9543.1, CCDS9544.1	13q34	2010-04-30			ENSG00000169062	ENSG00000169062			20332	protein-coding gene	gene with protein product		605530				11113196, 11163187	Standard	NM_023011		Approved	RENT3A, UPF3, HUPF3A	uc001vup.3	Q9H1J1	OTTHUMG00000017403	ENST00000375299.3:c.271C>T	13.37:g.115047559C>T						UPF3A_ENST00000351487.5_Silent_p.L91L	p.L91L	NM_023011.3	NP_075387.1	Q9H1J1	REN3A_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.0886)	OV - Ovarian serous cystadenocarcinoma(48;0.195)|Epithelial(10;0.2)	2	327	+	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	91			Required for interaction with UPF2.		A2A366|Q5T8C3|Q5T8C9|Q7Z6N3|Q86YK1|Q9BZI8	Silent	SNP	ENST00000375299.3	37	c.271C>T	CCDS9543.1																																																																																				0.731	UPF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045968.2			4	20	0	0	0	1	0	4	20				
OR6Q1	219952	broad.mit.edu	37	11	57799202	57799202	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr11:57799202T>C	ENST00000302622.3	+	1	801	c.778T>C	c.(778-780)Ttc>Ctc	p.F260L	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	260						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGCACTCTTTTCTTTATGTA	0.517																																						ENST00000302622.3																			0				biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(778-780)Ttc>Ctc		olfactory receptor, family 6, subfamily Q, member 1							178.0	158.0	165.0					11																	57799202		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57799202T>C	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.778T>C	11.37:g.57799202T>C	ENSP00000307734:p.Phe260Leu					OR9Q1_ENST00000335397.3_Intron	p.F260L	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN			1	801	+		Breast(21;0.0707)|all_epithelial(135;0.142)	260					B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.778T>C	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	T	7.415	0.635611	0.14322	.	.	ENSG00000172381	ENST00000302622	T	0.32023	1.47	5.14	2.6	0.31112	GPCR, rhodopsin-like superfamily (1);	0.000000	0.40302	N	0.001124	T	0.10937	0.0267	N	0.04686	-0.185	0.09310	N	0.999999	B	0.16603	0.018	B	0.15052	0.012	T	0.26916	-1.0089	10	0.11485	T	0.65	.	4.1437	0.10205	0.4432:0.0892:0.0:0.4676	.	260	Q8NGQ2	OR6Q1_HUMAN	L	260	ENSP00000307734:F260L	ENSP00000307734:F260L	F	+	1	0	OR6Q1	57555778	0.000000	0.05858	0.469000	0.27204	0.784000	0.44337	-0.134000	0.10436	0.764000	0.33197	0.523000	0.50628	TTC		0.517	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1	NM_001005186		6	265	0	0	0	1	0	6	265				
PIK3CA	5290	broad.mit.edu	37	3	178922340	178922340	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:178922340A>G	ENST00000263967.3	+	6	1266	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	370	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTATGTGACAATGTGAACACT	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1108-1110)aAt>aGt		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							232.0	185.0	199.0					3																	178922340		1843	4092	5935	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178922340A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1109A>G	3.37:g.178922340A>G	ENSP00000263967:p.Asn370Ser	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.N370S	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		6	1266	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		370			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1109A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	14.68	2.608715	0.46527	.	.	ENSG00000121879	ENST00000263967	T	0.75938	-0.98	5.62	5.62	0.85841	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.044808	0.85682	D	0.000000	T	0.60818	0.2298	N	0.17082	0.46	0.80722	D	1	B	0.15719	0.014	B	0.21151	0.033	T	0.56013	-0.8049	10	0.22109	T	0.4	-15.14	15.8084	0.78534	1.0:0.0:0.0:0.0	.	370	P42336	PK3CA_HUMAN	S	370	ENSP00000263967:N370S	ENSP00000263967:N370S	N	+	2	0	PIK3CA	180405034	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.829000	0.92055	2.138000	0.66242	0.533000	0.62120	AAT		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			5	292	0	0	0	1	0	5	292				
NBEAL1	65065	broad.mit.edu	37	2	204066361	204066361	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:204066361C>T	ENST00000449802.1	+	49	7580	c.7247C>T	c.(7246-7248)gCt>gTt	p.A2416V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2416										NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCTTCAGTGCTGGATACTGG	0.398																																						ENST00000449802.1																			0				NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						c.(7246-7248)gCt>gTt		neurobeachin-like 1							131.0	116.0	121.0					2																	204066361		1883	4122	6005	SO:0001583	missense	65065						binding	g.chr2:204066361C>T	AY172970	CCDS46495.1	2q33	2013-01-10			ENSG00000144426	ENSG00000144426		"""WD repeat domain containing"""	20681	protein-coding gene	gene with protein product		609816	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17"", ""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16"""	ALS2CR17, ALS2CR16		15193433	Standard	NM_001114132		Approved	MGC164581	uc002uzt.3	Q6ZS30	OTTHUMG00000154129	ENST00000449802.1:c.7247C>T	2.37:g.204066361C>T	ENSP00000399903:p.Ala2416Val						p.A2416V	NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN			49	7580	+			2416					A6NHD5|Q6Y876|Q6ZP36|Q6ZQY5|Q8N8R4|Q96Q30|Q96Q31	Missense_Mutation	SNP	ENST00000449802.1	37	c.7247C>T	CCDS46495.1	.	.	.	.	.	.	.	.	.	.	C	18.25	3.581567	0.65992	.	.	ENSG00000144426	ENST00000449802;ENST00000340268;ENST00000414576	T;T	0.33654	4.85;1.4	5.87	4.97	0.65823	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.093069	0.64402	D	0.000001	T	0.36771	0.0979	L	0.47716	1.5	0.41486	D	0.988198	P;P	0.48640	0.913;0.828	P;B	0.46758	0.526;0.44	T	0.11108	-1.0601	10	0.12103	T	0.63	.	15.1037	0.72303	0.0:0.578:0.4219:0.0	.	2416;2405	Q6ZS30;C9JGK5	NBEL1_HUMAN;.	V	2416;2347;431	ENSP00000399903:A2416V;ENSP00000388466:A431V	ENSP00000344985:A2347V	A	+	2	0	NBEAL1	203774606	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.393000	0.66279	1.438000	0.47492	0.655000	0.94253	GCT		0.398	NBEAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333982.4			4	213	0	0	0	1	0	4	213				
EGFLAM	133584	broad.mit.edu	37	5	38464075	38464075	+	Missense_Mutation	SNP	G	G	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:38464075G>T	ENST00000354891.3	+	23	3387	c.3041G>T	c.(3040-3042)tGt>tTt	p.C1014F	EGFLAM_ENST00000506135.1_Missense_Mutation_p.C149F|EGFLAM_ENST00000322350.5_Missense_Mutation_p.C1006F|EGFLAM_ENST00000336740.6_Missense_Mutation_p.C772F|EGFLAM_ENST00000514476.1_Missense_Mutation_p.C149F|CTD-2263F21.1_ENST00000510137.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.C372F|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000397210.3_Missense_Mutation_p.C149F	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	1014	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATCAACACTTGTGGAGCCAAG	0.537																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(3016-3018)tGt>tTt		EGF-like, fibronectin type III and laminin G domains							114.0	90.0	98.0					5																	38464075		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38464075G>T	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.3041G>T	5.37:g.38464075G>T	ENSP00000346964:p.Cys1014Phe					EGFLAM_ENST00000354891.3_Missense_Mutation_p.C1014F|EGFLAM_ENST00000336740.6_Missense_Mutation_p.C772F|EGFLAM_ENST00000397210.3_Missense_Mutation_p.C149F|EGFLAM_ENST00000506135.1_Missense_Mutation_p.C149F|EGFLAM_ENST00000514476.1_Missense_Mutation_p.C149F|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.C372F	p.C1006F	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			22	3363	+	all_lung(31;0.000385)		1014			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.3017G>T	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.339518	0.81911	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000514476	T;T;D;D;D;D;D	0.99541	0.01;-0.09;-1.83;-2.12;-6.12;-6.12;-6.12	5.93	5.93	0.95920	Concanavalin A-like lectin/glucanase (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	D	0.99667	0.9876	M	0.85373	2.75	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	D	0.98258	1.0497	10	0.87932	D	0	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	372;772;1014;1006	Q63HQ2-3;Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;.;EGFLA_HUMAN;.	F	1014;1006;772;372;772;149;149;149	ENSP00000346964:C1014F;ENSP00000313084:C1006F;ENSP00000337607:C772F;ENSP00000380385:C372F;ENSP00000380393:C149F;ENSP00000425579:C149F;ENSP00000423228:C149F	ENSP00000313084:C1006F	C	+	2	0	EGFLAM	38499832	1.000000	0.71417	0.928000	0.36995	0.960000	0.62799	9.171000	0.94802	2.826000	0.97356	0.655000	0.94253	TGT		0.537	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		46	72	1	0	3.39706e-21	1	3.80267e-21	46	72				
IRX5	10265	broad.mit.edu	37	16	54967008	54967008	+	Silent	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:54967008G>A	ENST00000394636.4	+	3	1012	c.675G>A	c.(673-675)gcG>gcA	p.A225A	IRX5_ENST00000320990.5_Silent_p.A224A|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.A159A			P78411	IRX5_HUMAN	iroquois homeobox 5	225					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						AGCAGAAGGCGGCTTCGGGCT	0.706																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(673-675)gcG>gcA		iroquois homeobox 5							8.0	9.0	9.0					16																	54967008		2112	4175	6287	SO:0001819	synonymous_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967008G>A	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.675G>A	16.37:g.54967008G>A						IRX5_ENST00000320990.5_Silent_p.A224A|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Silent_p.A159A	p.A225A			P78411	IRX5_HUMAN			3	1012	+			225					H0YMS7|P78416|Q7Z2E1	Silent	SNP	ENST00000394636.4	37	c.675G>A	CCDS10751.1																																																																																				0.706	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			18	14	0	0	0	1	0	18	14				
DNM1P47	100216544	broad.mit.edu	37	15	102304896	102304896	+	RNA	SNP	C	C	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr15:102304896C>G	ENST00000561463.1	+	0	12942									DNM1 pseudogene 47																		GAAGACACTCCTGGAGGAGTC	0.562																																						ENST00000561463.1																			0																																																			0							g.chr15:102304896C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304896C>G														0	12942	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.562	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	33	0	0	0	1	0	4	33				
EPHA3	2042	broad.mit.edu	37	3	89457251	89457251	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:89457251G>A	ENST00000336596.2	+	9	1957	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E578K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	578					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGGGCAGATGAAAAAAGACT	0.353										TSP Lung(6;0.00050)																												ENST00000336596.2																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1732-1734)Gaa>Aaa		EPH receptor A3							230.0	225.0	227.0					3																	89457251		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89457251G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1732G>A	3.37:g.89457251G>A	ENSP00000337451:p.Glu578Lys	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.E578K	p.E578K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	9	1957	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	578					Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1732G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	22.6	4.306977	0.81247	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.10573	2.86;2.86	5.97	5.97	0.96955	.	0.143873	0.64402	D	0.000008	T	0.14527	0.0351	L	0.50919	1.6	0.80722	D	1	B	0.17038	0.02	B	0.19148	0.024	T	0.08743	-1.0707	9	.	.	.	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	578	P29320	EPHA3_HUMAN	K	578	ENSP00000337451:E578K;ENSP00000419190:E578K	.	E	+	1	0	EPHA3	89539941	1.000000	0.71417	0.625000	0.29200	0.945000	0.59286	9.230000	0.95299	2.833000	0.97629	0.585000	0.79938	GAA		0.353	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		98	164	0	0	0	1	0	98	164				
PIK3CA	5290	broad.mit.edu	37	3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	rs121913287		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.		R -> Q (in MCAP; also found in a glioblastoma multiforme sample; may disrupt the interaction between the PI3K- ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain). {ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		53	Substitution - Missense(53)	p.R88Q(53)	endometrium(27)|large_intestine(13)|central_nervous_system(8)|cervix(3)|soft_tissue(1)|breast(1)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(262-264)cGa>cAa		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							107.0	102.0	104.0					3																	178916876		1821	4078	5899	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916876G>A		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.263G>A	3.37:g.178916876G>A	ENSP00000263967:p.Arg88Gln	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.R88Q	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	420	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		88		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).	PI3K-ABD.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.263G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971870	0.92919	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.80033	-1.33;-1.33	5.44	5.44	0.79542	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.88404	0.3017	9	.	.	.	-14.8194	19.2635	0.93977	0.0:0.0:1.0:0.0	.	88	P42336	PK3CA_HUMAN	Q	88	ENSP00000263967:R88Q;ENSP00000417479:R88Q	.	R	+	2	0	PIK3CA	180399570	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.571000	0.82399	2.547000	0.85894	0.555000	0.69702	CGA		0.363	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			55	117	0	0	0	1	0	55	117				
RBBP6	5930	broad.mit.edu	37	16	24582966	24582966	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:24582966G>A	ENST00000319715.4	+	18	5011	c.4579G>A	c.(4579-4581)Gga>Aga	p.G1527R	RBBP6_ENST00000381039.3_Missense_Mutation_p.G687R|RBBP6_ENST00000348022.2_Missense_Mutation_p.G1493R	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1527	Interaction with p53. {ECO:0000250}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAAAGGAACAGGAGATTCCAA	0.373																																						ENST00000319715.4																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46						c.(4579-4581)Gga>Aga		retinoblastoma binding protein 6							39.0	38.0	38.0					16																	24582966		2197	4298	6495	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24582966G>A		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.4579G>A	16.37:g.24582966G>A	ENSP00000317872:p.Gly1527Arg					RBBP6_ENST00000381039.3_Missense_Mutation_p.G687R|RBBP6_ENST00000348022.2_Missense_Mutation_p.G1493R	p.G1527R	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	18	5011	+			1527			Interaction with p53 (By similarity).		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.4579G>A	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291961	0.40594	.	.	ENSG00000122257	ENST00000381039;ENST00000319715;ENST00000348022	T;T;T	0.17854	2.25;2.57;2.56	5.66	4.71	0.59529	.	0.533626	0.18556	N	0.137766	T	0.11665	0.0284	L	0.27053	0.805	0.20489	N	0.999893	B;B;B	0.15473	0.013;0.003;0.001	B;B;B	0.15870	0.014;0.009;0.004	T	0.27839	-1.0062	10	0.18710	T	0.47	-7.6788	10.143	0.42747	0.0706:0.0:0.7926:0.1368	.	687;1493;1527	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9	.;.;RBBP6_HUMAN	R	687;1527;1493	ENSP00000370427:G687R;ENSP00000317872:G1527R;ENSP00000316291:G1493R	ENSP00000317872:G1527R	G	+	1	0	RBBP6	24490467	0.400000	0.25295	0.995000	0.50966	0.991000	0.79684	4.178000	0.58284	1.403000	0.46800	0.557000	0.71058	GGA		0.373	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		32	52	0	0	0	1	0	32	52				
PPBP	5473	broad.mit.edu	37	4	74853701	74853701	+	Missense_Mutation	SNP	T	T	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:74853701T>G	ENST00000296028.3	-	1	213	c.120A>C	c.(118-120)caA>caC	p.Q40H		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	40					blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|defense response to bacterium (GO:0042742)|glucose transport (GO:0015758)|immune response (GO:0006955)|leukocyte migration involved in inflammatory response (GO:0002523)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell division (GO:0051781)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)	glucose transmembrane transporter activity (GO:0005355)			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTCTCTTAGTTTGTCCTTTGG	0.527																																						ENST00000296028.3																			0				breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10						c.(118-120)caA>caC		pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)							136.0	126.0	130.0					4																	74853701		2203	4300	6503	SO:0001583	missense	5473				chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity	g.chr4:74853701T>G	M54995	CCDS3563.1	4q12-q13	2013-02-25	2002-08-22		ENSG00000163736	ENSG00000163736		"""Endogenous ligands"""	9240	protein-coding gene	gene with protein product	"""platelet basic protein"", ""beta-thromboglobulin"", ""connective tissue-activating peptide III"", ""neutrophil-activating peptide-2"""	121010		THBGB1		1826003	Standard	NM_002704		Approved	SCYB7, TGB, NAP-2-L1, LA-PF4, MDGF, LDGF, Beta-TG, CTAP3, CXCL7, PBP, b-TG1, TGB1, CTAPIII, NAP-2	uc003hhj.3	P02775	OTTHUMG00000130008	ENST00000296028.3:c.120A>C	4.37:g.74853701T>G	ENSP00000296028:p.Gln40His						p.Q40H	NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	all cancers(17;0.00273)|Lung(101;0.196)		1	213	-	Breast(15;0.00136)		40					B2R5F3|Q6IBJ8	Missense_Mutation	SNP	ENST00000296028.3	37	c.120A>C	CCDS3563.1	.	.	.	.	.	.	.	.	.	.	T	12.50	1.956543	0.34565	.	.	ENSG00000163736	ENST00000296028	T	0.46063	0.88	2.56	2.56	0.30785	Chemokine interleukin-8-like domain (1);	.	.	.	.	T	0.29556	0.0737	L	0.29908	0.895	0.09310	N	1	D	0.56968	0.978	B	0.42851	0.4	T	0.08554	-1.0716	9	0.45353	T	0.12	.	6.9621	0.24603	0.0:0.0:0.0:1.0	.	40	P02775	CXCL7_HUMAN	H	40	ENSP00000296028:Q40H	ENSP00000296028:Q40H	Q	-	3	2	PPBP	75072565	0.226000	0.23696	0.014000	0.15608	0.002000	0.02628	3.077000	0.50089	1.422000	0.47177	0.397000	0.26171	CAA		0.527	PPBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252281.2	NM_002704		52	73	0	0	0	1	0	52	73				
PA2G4	5036	broad.mit.edu	37	12	56505011	56505011	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr12:56505011A>G	ENST00000303305.6	+	11	1402	c.983A>G	c.(982-984)aAt>aGt	p.N328S	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	328	Necessary for nucleolar localization.				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)			CTCATGCCCAATGGCCCCATG	0.433																																						ENST00000303305.6																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(982-984)aAt>aGt		proliferation-associated 2G4, 38kDa							102.0	98.0	99.0					12																	56505011		2203	4300	6503	SO:0001583	missense	5036				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	g.chr12:56505011A>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.983A>G	12.37:g.56505011A>G	ENSP00000302886:p.Asn328Ser					RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	p.N328S	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.0739)		11	1402	+			328			Necessary for nucleolar localization.		O43846|Q9UM59	Missense_Mutation	SNP	ENST00000303305.6	37	c.983A>G	CCDS8902.1	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587866	0.66105	.	.	ENSG00000170515	ENST00000303305;ENST00000417031;ENST00000546435	.	.	.	5.95	5.95	0.96441	Peptidase M24, structural domain (2);	0.000000	0.85682	D	0.000000	T	0.56277	0.1974	L	0.43646	1.37	0.80722	D	1	B;B	0.19445	0.005;0.036	B;B	0.19148	0.024;0.016	T	0.51926	-0.8643	9	0.41790	T	0.15	.	15.4063	0.74881	1.0:0.0:0.0:0.0	.	328;328	F8VTY8;Q9UQ80	.;PA2G4_HUMAN	S	328;357;328	.	ENSP00000302886:N328S	N	+	2	0	PA2G4	54791278	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.431000	0.80335	2.279000	0.76181	0.533000	0.62120	AAT		0.433	PA2G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407767.1	NM_006191		69	165	0	0	0	1	0	69	165				
RYR2	6262	broad.mit.edu	37	1	237791209	237791209	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:237791209G>A	ENST00000366574.2	+	41	6586	c.6269G>A	c.(6268-6270)cGg>cAg	p.R2090Q	RYR2_ENST00000542537.1_Missense_Mutation_p.R2074Q|RYR2_ENST00000360064.6_Missense_Mutation_p.R2088Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2090	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)	p.R2088Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCTCCATCGGCAGTATGAC	0.557																																						ENST00000366574.2																			1	Substitution - Missense(1)	p.R2088Q(1)	kidney(1)	NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(6268-6270)cGg>cAg		ryanodine receptor 2 (cardiac)							73.0	72.0	72.0					1																	237791209		1981	4151	6132	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237791209G>A	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.6269G>A	1.37:g.237791209G>A	ENSP00000355533:p.Arg2090Gln					RYR2_ENST00000360064.6_Missense_Mutation_p.R2088Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R2074Q	p.R2090Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		41	6586	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	2090			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.6269G>A	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	27.3	4.822115	0.90873	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.98474	-4.95;-4.93;-4.95	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000016	D	0.99105	0.9692	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.99433	1.0936	10	0.62326	D	0.03	.	19.0363	0.92980	0.0:0.0:1.0:0.0	.	2090	Q92736	RYR2_HUMAN	Q	2090;2088;2074	ENSP00000355533:R2090Q;ENSP00000353174:R2088Q;ENSP00000443798:R2074Q	ENSP00000353174:R2088Q	R	+	2	0	RYR2	235857832	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.811000	0.86092	2.571000	0.86741	0.591000	0.81541	CGG		0.557	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		9	64	0	0	0	1	0	9	64				
MAGEA6	4105	broad.mit.edu	37	X	151870087	151870087	+	Silent	SNP	G	G	T	rs79585035		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chrX:151870087G>T	ENST00000329342.5	+	3	1002	c.777G>T	c.(775-777)cgG>cgT	p.R259R		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	259	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGTACCGGCAGGTCCCCG	0.522																																						ENST00000329342.5																			0				breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28						c.(775-777)cgG>cgT		melanoma antigen family A, 6							126.0	128.0	127.0					X																	151870087		2203	4298	6501	SO:0001819	synonymous_variant	4105						protein binding	g.chrX:151870087G>T		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.777G>T	X.37:g.151870087G>T							p.R259R	NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN			3	1002	+	Acute lymphoblastic leukemia(192;6.56e-05)		259			MAGE.		A8IF93|Q6NW44	Silent	SNP	ENST00000329342.5	37	c.777G>T	CCDS14708.1																																																																																				0.522	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		182	337	1	0	3.86445e-50	1	4.45898e-50	182	337				
CCDC60	160777	broad.mit.edu	37	12	119909928	119909928	+	Silent	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr12:119909928C>T	ENST00000327554.2	+	3	765	c.300C>T	c.(298-300)gcC>gcT	p.A100A	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	100										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TCCAGCCAGCCGAAAAGATCT	0.423																																						ENST00000327554.2																			0				endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(298-300)gcC>gcT		coiled-coil domain containing 60							157.0	163.0	161.0					12																	119909928		2203	4300	6503	SO:0001819	synonymous_variant	160777							g.chr12:119909928C>T	BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.300C>T	12.37:g.119909928C>T						RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR	p.A100A	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.207)	3	765	+	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		100						Silent	SNP	ENST00000327554.2	37	c.300C>T	CCDS9190.1																																																																																				0.423	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1	NM_178499		102	249	0	0	0	1	0	102	249				
MICAL1	64780	broad.mit.edu	37	6	109766001	109766001	+	Splice_Site	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr6:109766001C>T	ENST00000358807.3	-	24	3293	c.2982G>A	c.(2980-2982)acG>acA	p.T994T	MICAL1_ENST00000358577.3_Splice_Site_p.T908T|MICAL1_ENST00000368952.4_Splice_Site_p.T1013T	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	994					actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ATTCCTGCACCCTGTGGAGGT	0.577																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.e24-1		microtubule associated monooxygenase, calponin and LIM domain containing 1							108.0	98.0	101.0					6																	109766001		2203	4300	6503	SO:0001630	splice_region_variant	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109766001C>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.2982-1G>A	6.37:g.109766001C>T						MICAL1_ENST00000358807.3_Splice_Site_p.T994_splice|MICAL1_ENST00000358577.3_Splice_Site_p.T908_splice	p.T1013_splice			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	24	3329	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	994					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Splice_Site	SNP	ENST00000358807.3	37	c.3038_splice	CCDS5076.1																																																																																				0.577	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765	Silent	5	155	0	0	0	1	0	5	155				
IGHA1	3493	broad.mit.edu	37	14	106173865	106173865	+	RNA	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr14:106173865C>T	ENST00000390547.2	-	0	701				AL928768.3_ENST00000497872.2_lincRNA			P01876	IGHA1_HUMAN	immunoglobulin heavy constant alpha 1						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|protein-chromophore linkage (GO:0018298)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										CCGACGGCGGCGGCAGCAGGT	0.682																																						ENST00000390547.2																			0																				11.0	15.0	13.0					14																	106173865		1959	4119	6078			0							g.chr14:106173865C>T	J00220		14q32.33	2012-10-02			ENSG00000211895	ENSG00000211895		"""Immunoglobulins / IGH locus"""	5478	other	immunoglobulin gene		146900					Standard	NG_001019		Approved			P01876	OTTHUMG00000152494		14.37:g.106173865C>T														0	701	-									RNA	SNP	ENST00000390547.2	37																																																																																						0.682	IGHA1-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326459.1	NG_001019		4	66	0	0	0	1	0	4	66				
TSSK2	23617	broad.mit.edu	37	22	19119046	19119046	+	Missense_Mutation	SNP	G	G	A	rs368344123		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr22:19119046G>A	ENST00000399635.2	+	1	726	c.134G>A	c.(133-135)cGc>cAc	p.R45H	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	45	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				multicellular organismal development (GO:0007275)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|centriole (GO:0005814)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					ATCATCGACCGCAAGAAAACA	0.488																																						ENST00000399635.2																			0				endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11						c.(133-135)cGc>cAc		testis-specific serine kinase 2							79.0	71.0	74.0					22																	19119046		2203	4300	6503	SO:0001583	missense	23617				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:19119046G>A	AF362953	CCDS13755.1	22q11.21	2007-01-30	2005-03-10	2005-03-12	ENSG00000206203	ENSG00000206203			11401	protein-coding gene	gene with protein product		610710	"""serine/threonine kinase 22B (spermiogenesis associated)"""	STK22B		10591208	Standard	NM_053006		Approved	SPOGA2, FLJ38613	uc002zow.2	Q96PF2	OTTHUMG00000150118	ENST00000399635.2:c.134G>A	22.37:g.19119046G>A	ENSP00000382544:p.Arg45His					DGCR14_ENST00000252137.6_3'UTR	p.R45H	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN			1	726	+	Colorectal(54;0.0993)		45			Protein kinase.		Q8IY55	Missense_Mutation	SNP	ENST00000399635.2	37	c.134G>A	CCDS13755.1	.	.	.	.	.	.	.	.	.	.	G	18.89	3.719159	0.68844	.	.	ENSG00000206203	ENST00000399635	T	0.66099	-0.19	5.35	5.35	0.76521	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.51477	D	0.000100	T	0.69851	0.3157	L	0.37897	1.145	0.33361	D	0.57239	D	0.89917	1.0	D	0.71414	0.973	T	0.78147	-0.2317	10	0.87932	D	0	.	13.5853	0.61926	0.0:0.1561:0.8438:0.0	.	45	Q96PF2	TSSK2_HUMAN	H	45	ENSP00000382544:R45H	ENSP00000382544:R45H	R	+	2	0	TSSK2	17499046	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.484000	0.53201	2.506000	0.84524	0.563000	0.77884	CGC		0.488	TSSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316431.1			4	132	0	0	0	1	0	4	132				
IGHA2	3494	broad.mit.edu	37	14	106053634	106053634	+	RNA	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr14:106053634C>T	ENST00000390539.2	-	0	662				AL928742.1_ENST00000581377.1_RNA			P01877	IGHA2_HUMAN	immunoglobulin heavy constant alpha 2 (A2m marker)						antibacterial humoral response (GO:0019731)|glomerular filtration (GO:0003094)|immune response (GO:0006955)|positive regulation of respiratory burst (GO:0060267)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|monomeric IgA immunoglobulin complex (GO:0071748)|secretory dimeric IgA immunoglobulin complex (GO:0071752)|secretory IgA immunoglobulin complex (GO:0071751)	antigen binding (GO:0003823)										CCGACGGCGGCGGCAGCAGGT	0.677																																						ENST00000390539.2																			0																				12.0	13.0	13.0					14																	106053634		1959	3810	5769			0							g.chr14:106053634C>T	J00221		14q32.33	2012-10-02			ENSG00000211890	ENSG00000211890		"""Immunoglobulins / IGH locus"""	5479	other	immunoglobulin gene		147000					Standard	NG_001019		Approved			P01877	OTTHUMG00000152472		14.37:g.106053634C>T														0	662	-									RNA	SNP	ENST00000390539.2	37																																																																																						0.677	IGHA2-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IG_C_gene	OTTHUMT00000326338.1	NG_001019		13	32	0	0	0	1	0	13	32				
CENPJ	55835	broad.mit.edu	37	13	25487066	25487066	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr13:25487066C>T	ENST00000381884.4	-	2	283	c.98G>A	c.(97-99)cGt>cAt	p.R33H	CENPJ_ENST00000545981.1_Missense_Mutation_p.R33H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	33					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGGAAATCCACGATTTAATAT	0.448																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(97-99)cGt>cAt		centromere protein J							68.0	65.0	66.0					13																	25487066		2203	4300	6503	SO:0001583	missense	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25487066C>T	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.98G>A	13.37:g.25487066C>T	ENSP00000371308:p.Arg33His					CENPJ_ENST00000545981.1_Missense_Mutation_p.R33H	p.R33H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	2	283	-		Lung SC(185;0.0225)|Breast(139;0.0602)	33					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Missense_Mutation	SNP	ENST00000381884.4	37	c.98G>A	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	C	13.26	2.184550	0.38609	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.17854	2.25;2.25	5.28	3.56	0.40772	.	0.390704	0.25175	N	0.032577	T	0.17323	0.0416	M	0.73962	2.25	0.25294	N	0.989332	B	0.30179	0.271	B	0.19148	0.024	T	0.23368	-1.0190	10	0.62326	D	0.03	.	5.9903	0.19456	0.0:0.6737:0.1546:0.1717	.	33	Q9HC77	CENPJ_HUMAN	H	33	ENSP00000371308:R33H;ENSP00000441090:R33H	ENSP00000371308:R33H	R	-	2	0	CENPJ	24385066	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.413000	0.34725	0.620000	0.30215	0.655000	0.94253	CGT		0.448	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451		4	162	0	0	0	1	0	4	162				
EPB41L2	2037	broad.mit.edu	37	6	131222116	131222116	+	Silent	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr6:131222116C>T	ENST00000337057.3	-	7	1315	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	EPB41L2_ENST00000527659.1_Silent_p.L378L|EPB41L2_ENST00000368128.2_Silent_p.L378L|EPB41L2_ENST00000525193.1_Silent_p.L378L|EPB41L2_ENST00000530481.1_Silent_p.L378L|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525271.1_Silent_p.L378L|EPB41L2_ENST00000527411.1_Silent_p.L378L|EPB41L2_ENST00000445890.2_Silent_p.L378L|EPB41L2_ENST00000528282.1_Silent_p.L378L|EPB41L2_ENST00000392427.3_Silent_p.L378L|EPB41L2_ENST00000529208.1_Silent_p.L378L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	378	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGGTTTTGTGCAGCTCTGCCA	0.473																																						ENST00000337057.3																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44						c.(1132-1134)ctG>ctA		erythrocyte membrane protein band 4.1-like 2							215.0	195.0	202.0					6																	131222116		2203	4300	6503	SO:0001819	synonymous_variant	2037				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity	g.chr6:131222116C>T	AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.1134G>A	6.37:g.131222116C>T						EPB41L2_ENST00000527659.1_Silent_p.L378L|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000527411.1_Silent_p.L378L|EPB41L2_ENST00000528282.1_Silent_p.L378L|EPB41L2_ENST00000445890.2_Silent_p.L378L|EPB41L2_ENST00000525271.1_Silent_p.L378L|EPB41L2_ENST00000529208.1_Silent_p.L378L|EPB41L2_ENST00000530481.1_Silent_p.L378L|EPB41L2_ENST00000392427.3_Silent_p.L378L|EPB41L2_ENST00000525193.1_Silent_p.L378L|EPB41L2_ENST00000368128.2_Silent_p.L378L	p.L378L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)	7	1315	-	Breast(56;0.0639)		378			FERM.		B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Silent	SNP	ENST00000337057.3	37	c.1134G>A	CCDS5141.1																																																																																				0.473	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042204.3			6	367	0	0	0	1	0	6	367				
ABCA2	20	broad.mit.edu	37	9	139907686	139907686	+	Silent	SNP	G	G	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr9:139907686G>T	ENST00000371605.3	-	29	4779	c.4632C>A	c.(4630-4632)ctC>ctA	p.L1544L	ABCA2_ENST00000341511.6_Silent_p.L1545L|ABCA2_ENST00000265662.5_Silent_p.L1545L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1544					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGGAGACTTGAGCACGCAGG	0.701																																						ENST00000265662.5																			0				central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41						c.(4633-4635)ctC>ctA		ATP-binding cassette, sub-family A (ABC1), member 2							7.0	10.0	9.0					9																	139907686		1855	3931	5786	SO:0001819	synonymous_variant	20				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr9:139907686G>T	U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.4632C>A	9.37:g.139907686G>T						ABCA2_ENST00000341511.6_Silent_p.L1545L|ABCA2_ENST00000371605.3_Silent_p.L1544L	p.L1545L			Q9BZC7	ABCA2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	30	4782	-	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	1544					A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	ENST00000371605.3	37	c.4635C>A																																																																																					0.701	ABCA2-202	KNOWN	basic	protein_coding	protein_coding		NM_001606		3	32	1	0	1	1	1	3	32				
NLRC4	58484	broad.mit.edu	37	2	32476399	32476399	+	Silent	SNP	C	C	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:32476399C>A	ENST00000404025.2	-	5	1022	c.534G>T	c.(532-534)ctG>ctT	p.L178L	NLRC4_ENST00000360906.5_Silent_p.L178L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.L178L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	178	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Nucleotide-binding domain (NBD). {ECO:0000250}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCGCTGCAGCAGAGTGGACT	0.582																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(532-534)ctG>ctT		NLR family, CARD domain containing 4							71.0	69.0	70.0					2																	32476399		2203	4300	6503	SO:0001819	synonymous_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32476399C>A	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.534G>T	2.37:g.32476399C>A						NLRC4_ENST00000360906.5_Silent_p.L178L|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Silent_p.L178L	p.L178L			Q9NPP4	NLRC4_HUMAN			5	1022	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		178			NACHT.		A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	ENST00000404025.2	37	c.534G>T	CCDS33174.1																																																																																				0.582	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		5	126	1	0	5.18039e-06	1	5.55042e-06	5	126				
GLI2	2736	broad.mit.edu	37	2	121712960	121712960	+	Silent	SNP	C	C	A	rs149502176		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:121712960C>A	ENST00000452319.1	+	5	657	c.597C>A	c.(595-597)ggC>ggA	p.G199G	GLI2_ENST00000361492.4_Silent_p.G199G|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000435313.2_3'UTR					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGAGCGGGGGCGCTGCCAGCG	0.667																																						ENST00000452319.1																			0				NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(595-597)ggC>ggA		GLI family zinc finger 2		C		0,4406		0,0,2203	30.0	28.0	29.0		597	-4.7	0.1	2	dbSNP_134	29	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	GLI2	NM_005270.4		0,1,6501	AA,AC,CC		0.0116,0.0,0.0077		199/1587	121712960	1,13003	2203	4299	6502	SO:0001819	synonymous_variant	2736				axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:121712960C>A		CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.597C>A	2.37:g.121712960C>A						GLI2_ENST00000361492.4_Silent_p.G199G|GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR	p.G199G			P10070	GLI2_HUMAN			5	657	+	Renal(3;0.0496)	Prostate(154;0.0623)	199						Silent	SNP	ENST00000452319.1	37	c.597C>A	CCDS33283.1																																																																																				0.667	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332293.3	NM_005270		17	33	1	0	3.41278e-10	1	3.7641e-10	17	33				
MUC4	4585	broad.mit.edu	37	3	195511937	195511937	+	Missense_Mutation	SNP	C	C	T	rs201509113	byFrequency	TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:195511937C>T	ENST00000463781.3	-	2	6973	c.6514G>A	c.(6514-6516)Ggt>Agt	p.G2172S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.577																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(6514-6516)Ggt>Agt		mucin 4, cell surface associated							12.0	15.0	14.0					3																	195511937		652	1533	2185	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195511937C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6514G>A	3.37:g.195511937C>T	ENSP00000417498:p.Gly2172Ser					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000349607.4_Intron	p.G2172S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	6973	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	951					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.6514G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	C	7.497	0.651958	0.14516	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.28666	1.6;1.67	.	.	.	.	.	.	.	.	T	0.29976	0.0750	N	0.19112	0.55	0.09310	N	0.999998	D	0.56746	0.977	D	0.63488	0.915	T	0.11084	-1.0602	7	.	.	.	.	3.4513	0.07499	0.4478:0.552:1.0E-4:1.0E-4	.	2172	E7ESK3	.	S	2172	ENSP00000417498:G2172S;ENSP00000420243:G2172S	.	G	-	1	0	MUC4	196996332	0.229000	0.23729	0.002000	0.10522	0.068000	0.16541	1.016000	0.29976	0.488000	0.27723	0.064000	0.15345	GGT		0.577	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		5	4	0	0	0	1	0	5	4				
CHRDL1	91851	broad.mit.edu	37	X	109931822	109931822	+	Splice_Site	SNP	C	C	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chrX:109931822C>A	ENST00000372045.1	-	9	1098	c.967G>T	c.(967-969)Gaa>Taa	p.E323*	CHRDL1_ENST00000218054.4_Splice_Site_p.E329*|CHRDL1_ENST00000434224.1_Splice_Site_p.E250*|CHRDL1_ENST00000444321.2_Splice_Site_p.E329*|CHRDL1_ENST00000482160.1_Splice_Site_p.E250*|CHRDL1_ENST00000372042.1_Splice_Site_p.E330*|CHRDL1_ENST00000394797.4_Splice_Site_p.E329*			Q9BU40	CRDL1_HUMAN	chordin-like 1	323					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ACCAACGCACCTTTTGCTTTT	0.413																																						ENST00000218054.4																			0				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						c.e9+1		chordin-like 1							169.0	155.0	160.0					X																	109931822		2203	4300	6503	SO:0001630	splice_region_variant	91851				BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region		g.chrX:109931822C>A	AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.967+1G>T	X.37:g.109931822C>A						CHRDL1_ENST00000434224.1_Splice_Site_p.E250_splice|CHRDL1_ENST00000394797.4_Splice_Site_p.E329_splice|CHRDL1_ENST00000372042.1_Splice_Site_p.E330_splice|CHRDL1_ENST00000444321.2_Splice_Site_p.E329_splice|CHRDL1_ENST00000372045.1_Splice_Site_p.E323_splice|CHRDL1_ENST00000482160.1_Splice_Site_p.E250_splice	p.E329_splice	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN			9	1181	-			323					B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Splice_Site	SNP	ENST00000372045.1	37	c.985_splice		.	.	.	.	.	.	.	.	.	.	c	36	5.684650	0.96784	.	.	ENSG00000101938	ENST00000372045;ENST00000434224;ENST00000218054;ENST00000394797;ENST00000372042;ENST00000482160;ENST00000444321	.	.	.	5.12	5.12	0.69794	.	0.057805	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	0.018	9.196	0.37228	0.0:0.8967:0.0:0.1033	.	.	.	.	X	323;250;329;329;330;250;329	.	.	E	-	1	0	CHRDL1	109818478	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.800000	0.27042	2.469000	0.83416	0.597000	0.82753	GAA		0.413	CHRDL1-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000057912.1	NM_145234	Nonsense_Mutation	114	210	1	0	7.82854e-59	1	9.17407e-59	114	210				
STC2	8614	broad.mit.edu	37	5	172745215	172745215	+	Missense_Mutation	SNP	C	C	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:172745215C>A	ENST00000265087.4	-	4	1853	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	182					cellular calcium ion homeostasis (GO:0006874)|cellular response to hypoxia (GO:0071456)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of gene expression (GO:0010629)|negative regulation of multicellular organism growth (GO:0040015)|regulation of hormone biosynthetic process (GO:0046885)|regulation of store-operated calcium entry (GO:2001256)|response to oxidative stress (GO:0006979)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACCTCCTCCCCACAGGTCAGC	0.552																																						ENST00000265087.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25						c.(544-546)Ggg>Tgg		stanniocalcin 2							50.0	40.0	43.0					5																	172745215		2203	4300	6503	SO:0001583	missense	8614				cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity	g.chr5:172745215C>A	AB012664	CCDS4388.1	5q35.2	2004-05-17			ENSG00000113739	ENSG00000113739			11374	protein-coding gene	gene with protein product		603665				9723890, 9753616	Standard	NM_003714		Approved	STC-2	uc003mco.1	O76061	OTTHUMG00000130542	ENST00000265087.4:c.544G>T	5.37:g.172745215C>A	ENSP00000265087:p.Gly182Trp					STC2_ENST00000520593.1_5'UTR	p.G182W	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		4	1853	-	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	182						Missense_Mutation	SNP	ENST00000265087.4	37	c.544G>T	CCDS4388.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.944713	0.92593	.	.	ENSG00000113739	ENST00000265087	.	.	.	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.79064	0.4383	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80821	-0.1211	9	0.87932	D	0	-37.9052	19.196	0.93689	0.0:1.0:0.0:0.0	.	182	O76061	STC2_HUMAN	W	182	.	ENSP00000265087:G182W	G	-	1	0	STC2	172677821	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.487000	0.81328	2.531000	0.85337	0.650000	0.86243	GGG		0.552	STC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252965.1	NM_003714		3	55	1	0	6.4e-05	1	6.76056e-05	3	55				
CPEB4	80315	broad.mit.edu	37	5	173380277	173380277	+	Splice_Site	SNP	T	T	C			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:173380277T>C	ENST00000265085.5	+	9	3416		c.e9+2		CPEB4_ENST00000334035.5_Splice_Site|CPEB4_ENST00000519835.1_Missense_Mutation_p.V630A|CPEB4_ENST00000519467.1_Splice_Site|CPEB4_ENST00000522336.1_Splice_Site|CPEB4_ENST00000517880.1_Splice_Site|CPEB4_ENST00000520867.1_Splice_Site	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4						cellular response to amino acid stimulus (GO:0071230)|cellular response to decreased oxygen levels (GO:0036294)|cellular response to glucose starvation (GO:0042149)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|response to ischemia (GO:0002931)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|postsynaptic density (GO:0014069)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GATAAACGGGTAAGCCTTATA	0.403																																						ENST00000519835.1																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1888-1890)gTa>gCa		cytoplasmic polyadenylation element binding protein 4							88.0	85.0	86.0					5																	173380277		2203	4300	6503	SO:0001630	splice_region_variant	80315						nucleotide binding|RNA binding	g.chr5:173380277T>C	BX538213	CCDS4390.1	5q21	2013-02-12			ENSG00000113742	ENSG00000113742		"""RNA binding motif (RRM) containing"""	21747	protein-coding gene	gene with protein product		610607				11214970, 12672660	Standard	NM_030627		Approved	KIAA1673	uc003mcs.4	Q17RY0	OTTHUMG00000130541	ENST00000265085.5:c.1962+2T>C	5.37:g.173380277T>C						CPEB4_ENST00000265085.5_Splice_Site|CPEB4_ENST00000519467.1_Splice_Site|CPEB4_ENST00000522336.1_Splice_Site|CPEB4_ENST00000334035.5_Splice_Site|CPEB4_ENST00000517880.1_Splice_Site|CPEB4_ENST00000520867.1_Splice_Site	p.V630A			Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		7	2092	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	655			RRM 2.		B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Missense_Mutation	SNP	ENST00000265085.5	37	c.1889T>C	CCDS4390.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	21.8|21.8	4.196222|4.196222	0.78902|0.78902	.|.	.|.	ENSG00000113742|ENSG00000113742	ENST00000265085;ENST00000520867;ENST00000334035;ENST00000522336;ENST00000517880|ENST00000519835	.|T	.|0.23552	.|1.9	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	.|.	.|.	.|.	.|.	.|T	.|0.52289	.|0.1725	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	.|T	.|0.51545	.|-0.8692	.|7	.|.	.|.	.|.	.|.	16.3634|16.3634	0.83296|0.83296	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|630	.|E5RJM0	.|.	.|A	-1|630	.|ENSP00000429048:V630A	.|.	.|V	+|+	.|2	.|0	CPEB4|CPEB4	173312883|173312883	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.746000|0.746000	0.42486|0.42486	7.934000|7.934000	0.87649|0.87649	2.324000|2.324000	0.78689|0.78689	0.533000|0.533000	0.62120|0.62120	.|GTA		0.403	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627	Intron	60	119	0	0	0	1	0	60	119				
SORCS2	57537	broad.mit.edu	37	4	7668883	7668883	+	Silent	SNP	C	C	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:7668883C>A	ENST00000507866.2	+	8	1213	c.1104C>A	c.(1102-1104)gtC>gtA	p.V368V	SORCS2_ENST00000329016.9_Silent_p.V196V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	368					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AATACTACGTCTCTTATCGTC	0.483																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1102-1104)gtC>gtA		sortilin-related VPS10 domain containing receptor 2							201.0	194.0	196.0					4																	7668883		1979	4165	6144	SO:0001819	synonymous_variant	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7668883C>A	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1104C>A	4.37:g.7668883C>A						SORCS2_ENST00000329016.9_Silent_p.V196V	p.V368V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			8	1213	+			368					Q9P2L7	Silent	SNP	ENST00000507866.2	37	c.1104C>A	CCDS47008.1																																																																																				0.483	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		46	309	1	0	1.89013e-27	1	2.14787e-27	46	309				
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr19:42791757C>T	ENST00000575354.2	+	5	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	CIC_ENST00000572681.2_Missense_Mutation_p.R1124W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"""Mis, F, S"""		oligodendroglioma																																	ENST00000572681.2				Rec	yes		19	19q13.2	23152	"""Mis, F, S"""	capicua homolog			O			oligodendroglioma		4	Substitution - Missense(4)	p.R215W(4)	central_nervous_system(4)	autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82						c.(3370-3372)Cgg>Tgg		capicua transcriptional repressor							64.0	64.0	64.0					19																	42791757		2203	4300	6503	SO:0001583	missense	23152				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:42791757C>T	AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.643C>T	19.37:g.42791757C>T	ENSP00000458663:p.Arg215Trp					CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W	p.R1124W			Q96RK0	CIC_HUMAN			6	3438	+		Prostate(69;0.00682)	215			Pro-rich.		Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	ENST00000575354.2	37	c.3370C>T	CCDS12601.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199892	0.58126	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.39	4.39	0.52855	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	.	.	.	.	T	0.82033	0.4949	M	0.93241	3.395	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.85234	0.1034	8	0.87932	D	0	-14.3323	9.6958	0.40156	0.2069:0.7931:0.0:0.0	.	215	Q96RK0	CIC_HUMAN	W	215	.	ENSP00000160740:R215W	R	+	1	2	CIC	47483597	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.293000	0.59037	2.284000	0.76573	0.555000	0.69702	CGG		0.612	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000438532.2			47	34	0	0	0	1	0	47	34				
MUC4	4585	broad.mit.edu	37	3	195516065	195516065	+	Nonsense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:195516065G>A	ENST00000463781.3	-	2	2845	c.2386C>T	c.(2386-2388)Cga>Tga	p.R796*	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.R796*|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	801	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGTGGTTCGTGACCCTGAG	0.602																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(2386-2388)Cga>Tga		mucin 4, cell surface associated							100.0	112.0	108.0					3																	195516065		2184	4275	6459	SO:0001587	stop_gained	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195516065G>A	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.2386C>T	3.37:g.195516065G>A	ENSP00000417498:p.Arg796*					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.R796*|MUC4_ENST00000349607.4_Intron	p.R796*	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	2845	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	801			Ser-rich.		O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonsense_Mutation	SNP	ENST00000463781.3	37	c.2386C>T	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	-	36	5.776366	0.96922	.	.	ENSG00000145113	ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	2.36	0.436	0.16549	.	2.040130	0.02641	N	0.105341	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-1.2694	10.5779	0.45238	0.0:0.3383:0.6617:0.0	.	.	.	.	X	796;796;770	.	ENSP00000376209:R770X	R	-	1	2	MUC4	197000460	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-0.644000	0.05415	-0.184000	0.10567	-1.531000	0.00922	CGA		0.602	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		69	151	0	0	0	1	0	69	151				
ARRDC5	645432	broad.mit.edu	37	19	4896810	4896810	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr19:4896810C>T	ENST00000381781.2	-	2	373	c.374G>A	c.(373-375)aGc>aAc	p.S125N		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	125										endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GCCAAATTTGCTGGTGAAGGT	0.448																																						ENST00000381781.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						c.(373-375)aGc>aAc		arrestin domain containing 5							156.0	150.0	152.0					19																	4896810		1925	4146	6071	SO:0001583	missense	645432				signal transduction			g.chr19:4896810C>T		CCDS45929.1	19p13.3	2007-10-05				ENSG00000205784			31407	protein-coding gene	gene with protein product						12886014	Standard	NM_001080523		Approved		uc002mbm.3	A6NEK1		ENST00000381781.2:c.374G>A	19.37:g.4896810C>T	ENSP00000371200:p.Ser125Asn						p.S125N	NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)	2	373	-			125						Missense_Mutation	SNP	ENST00000381781.2	37	c.374G>A	CCDS45929.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.327806	0.24080	.	.	ENSG00000205784	ENST00000381781	T	0.14766	2.48	4.37	3.34	0.38264	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.273852	0.26289	N	0.025240	T	0.24812	0.0602	L	0.44542	1.39	0.24734	N	0.993074	D	0.71674	0.998	D	0.72338	0.977	T	0.01056	-1.1466	10	0.46703	T	0.11	-20.2308	9.8897	0.41283	0.0:0.8975:0.0:0.1025	.	125	A6NEK1	ARRD5_HUMAN	N	125	ENSP00000371200:S125N	ENSP00000371200:S125N	S	-	2	0	ARRDC5	4847810	1.000000	0.71417	0.991000	0.47740	0.061000	0.15899	2.130000	0.42064	2.453000	0.82957	0.579000	0.79373	AGC		0.448	ARRDC5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450443.1	XM_292803		5	196	0	0	0	1	0	5	196				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			55	130	0	0	0	1	0	55	130				
HTR3A	3359	broad.mit.edu	37	11	113857403	113857403	+	Missense_Mutation	SNP	T	T	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr11:113857403T>G	ENST00000504030.2	+	7	1314	c.869T>G	c.(868-870)aTc>aGc	p.I290S	HTR3A_ENST00000375498.2_Missense_Mutation_p.I296S|HTR3A_ENST00000355556.2_Missense_Mutation_p.I296S|HTR3A_ENST00000535865.1_Missense_Mutation_p.I34S|HTR3A_ENST00000506841.2_Missense_Mutation_p.I290S|HTR3A_ENST00000299961.5_Missense_Mutation_p.I275S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	290					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cellular response to growth factor stimulus (GO:0071363)|digestion (GO:0007586)|ion transmembrane transport (GO:0034220)|response to cocaine (GO:0042220)|response to ethanol (GO:0045471)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	receptor activity (GO:0004872)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Clozapine(DB00363)|Dolasetron(DB00757)|Ergoloid mesylate(DB01049)|Granisetron(DB00889)|Loxapine(DB00408)|Memantine(DB01043)|Methadone(DB00333)|Metoclopramide(DB01233)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Quetiapine(DB01224)|Rocuronium(DB00728)|Tapentadol(DB06204)|Trimipramine(DB00726)|Tubocurarine(DB01199)|Ziprasidone(DB00246)	TTCCTGATCATCGTTTCTGAC	0.592																																						ENST00000504030.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36						c.(868-870)aTc>aGc		5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)						103.0	82.0	89.0					11																	113857403		2201	4296	6497	SO:0001583	missense	3359				digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	g.chr11:113857403T>G	D49394	CCDS8365.1, CCDS8366.1, CCDS8365.2, CCDS8366.2, CCDS53710.1	11q23.1-q23.2	2012-05-22	2012-02-03					"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5297	protein-coding gene	gene with protein product		182139	"""5-hydroxytryptamine (serotonin) receptor 3A"""	HTR3		8530095, 12867984	Standard	NM_000869		Approved	5-HT3R, 5-HT3A	uc010rxb.2	P46098		ENST00000504030.2:c.869T>G	11.37:g.113857403T>G	ENSP00000424189:p.Ile290Ser					HTR3A_ENST00000506841.2_Missense_Mutation_p.I290S|HTR3A_ENST00000299961.5_Missense_Mutation_p.I275S|HTR3A_ENST00000375498.2_Missense_Mutation_p.I296S|HTR3A_ENST00000535865.1_Missense_Mutation_p.I34S|HTR3A_ENST00000355556.2_Missense_Mutation_p.I296S	p.I290S			P46098	5HT3A_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	7	1314	+		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)	290					B4DSY6|G5E986|O60854|Q7KZM7|Q99918|Q9BSZ9	Missense_Mutation	SNP	ENST00000504030.2	37	c.869T>G		.	.	.	.	.	.	.	.	.	.	T	23.7	4.450519	0.84101	.	.	ENSG00000166736	ENST00000504030;ENST00000355556;ENST00000375498;ENST00000506841;ENST00000535865;ENST00000299961	D;D;D;D;D;D	0.84660	-1.88;-1.88;-1.88;-1.88;-1.88;-1.88	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.90051	0.6893	M	0.62154	1.92	0.80722	D	1	P;P;D	0.53745	0.909;0.609;0.962	P;P;P	0.62491	0.85;0.543;0.903	D	0.91267	0.5041	10	0.87932	D	0	-18.2763	14.8248	0.70104	0.0:0.0:0.0:1.0	.	275;296;296	B4DSY6;G5E986;Q7KZM7	.;.;.	S	290;296;296;290;34;275	ENSP00000424189:I290S;ENSP00000347754:I296S;ENSP00000364648:I296S;ENSP00000424776:I290S;ENSP00000437776:I34S;ENSP00000299961:I275S	ENSP00000299961:I275S	I	+	2	0	HTR3A	113362613	1.000000	0.71417	0.992000	0.48379	0.787000	0.44495	6.244000	0.72391	1.961000	0.56991	0.459000	0.35465	ATC		0.592	HTR3A-001	KNOWN	upstream_ATG|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000360822.2	NM_000869		5	171	0	0	0	1	0	5	171				
TRAIP	10293	broad.mit.edu	37	3	49881320	49881320	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:49881320G>A	ENST00000331456.2	-	5	435	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	108					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|receptor signaling protein activity (GO:0005057)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCGTATCCCGCAGAGTGTCG	0.562																																						ENST00000331456.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(322-324)Cgg>Tgg		TRAF interacting protein							224.0	170.0	188.0					3																	49881320		2203	4300	6503	SO:0001583	missense	10293				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	g.chr3:49881320G>A	BC019283	CCDS2806.1	3p21.31	2013-01-09			ENSG00000183763	ENSG00000183763		"""RING-type (C3HC4) zinc fingers"""	30764	protein-coding gene	gene with protein product	"""ring finger protein 206"""	605958				9104814	Standard	NM_005879		Approved	TRIP, RNF206	uc003cxs.1	Q9BWF2	OTTHUMG00000158269	ENST00000331456.2:c.322C>T	3.37:g.49881320G>A	ENSP00000328203:p.Arg108Trp					TRAIP_ENST00000473863.1_5'UTR|TRAIP_ENST00000469027.1_Intron	p.R108W	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)	5	435	-			108					B5BU84|B5BUL3|O00467	Missense_Mutation	SNP	ENST00000331456.2	37	c.322C>T	CCDS2806.1	.	.	.	.	.	.	.	.	.	.	G	15.48	2.846504	0.51164	.	.	ENSG00000183763	ENST00000331456;ENST00000482582;ENST00000482243	T	0.44482	0.92	5.13	3.2	0.36748	.	0.105312	0.64402	D	0.000006	T	0.59142	0.2172	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.947;0.999;0.968	T	0.62369	-0.6869	10	0.72032	D	0.01	-15.6702	12.0329	0.53408	0.0:0.0:0.5608:0.4392	.	108;108;108	B4DIU1;A8K807;Q9BWF2	.;.;TRAIP_HUMAN	W	108;92;110	ENSP00000328203:R108W	ENSP00000328203:R108W	R	-	1	2	TRAIP	49856324	1.000000	0.71417	0.998000	0.56505	0.202000	0.24057	0.957000	0.29215	1.092000	0.41356	0.561000	0.74099	CGG		0.562	TRAIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350518.1	NM_005879		5	215	0	0	0	1	0	5	215				
CPEB2	132864	broad.mit.edu	37	4	15055831	15055831	+	Silent	SNP	T	T	C			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:15055831T>C	ENST00000507071.1	+	7	1203	c.1116T>C	c.(1114-1116)ttT>ttC	p.F372F	CPEB2_ENST00000345451.3_Silent_p.F342F|CPEB2_ENST00000259997.5_Silent_p.F380F|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382395.3_Silent_p.F350F|CPEB2_ENST00000382401.3_Silent_p.F345F|CPEB2_ENST00000538197.1_Silent_p.F817F|CPEB2_ENST00000541112.1_Silent_p.F809F|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000442003.2_Silent_p.F790F			Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	372	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cellular response to arsenic-containing substance (GO:0071243)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to oxidative stress (GO:0034599)|negative regulation of cytoplasmic translation (GO:2000766)|negative regulation of cytoplasmic translational elongation (GO:1900248)|negative regulation of GTPase activity (GO:0034260)	cytoplasm (GO:0005737)|messenger ribonucleoprotein complex (GO:1990124)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ribosomal large subunit binding (GO:0043023)|ribosomal small subunit binding (GO:0043024)|ribosome binding (GO:0043022)|translation repressor activity, nucleic acid binding (GO:0000900)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AGTCCTATTTTCCACCAAAAG	0.343																																						ENST00000538197.1																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						c.(2449-2451)ttT>ttC		cytoplasmic polyadenylation element binding protein 2							119.0	125.0	123.0					4																	15055831		2203	4300	6503	SO:0001819	synonymous_variant	132864				regulation of translation	cytoplasm	nucleotide binding|RNA binding	g.chr4:15055831T>C	AY247744	CCDS56325.1, CCDS56326.1	4p15.33	2013-02-12			ENSG00000137449	ENSG00000137449		"""RNA binding motif (RRM) containing"""	21745	protein-coding gene	gene with protein product		610605				12672660	Standard	NM_182485		Approved		uc003gnk.2	Q7Z5Q1	OTTHUMG00000090669	ENST00000507071.1:c.1116T>C	4.37:g.15055831T>C						CPEB2_ENST00000259997.5_Silent_p.F380F|CPEB2_ENST00000541112.1_Silent_p.F809F|CPEB2_ENST00000442003.2_Silent_p.F790F|CPEB2_ENST00000382395.3_Silent_p.F350F|CPEB2_ENST00000507071.1_Silent_p.F372F|CPEB2_ENST00000382401.3_Silent_p.F345F|RP11-665G4.1_ENST00000502344.1_RNA|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Silent_p.F342F	p.F817F	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN			8	2451	+			372					E7EPM3|F5H160|Q3B8N6|Q3MI89|Q3MI90|Q3MI92|Q7Z5Q0	Silent	SNP	ENST00000507071.1	37	c.2451T>C																																																																																					0.343	CPEB2-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000207349.2	XM_059607		112	203	0	0	0	1	0	112	203				
ASAH1	427	broad.mit.edu	37	8	17919903	17919903	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr8:17919903A>G	ENST00000262097.6	-	8	844	c.533T>C	c.(532-534)aTa>aCa	p.I178T	ASAH1_ENST00000314146.10_Missense_Mutation_p.I172T|ASAH1_ENST00000381733.4_Missense_Mutation_p.I194T|ASAH1_ENST00000520781.1_Missense_Mutation_p.I153T|ASAH1_ENST00000417108.2_Missense_Mutation_p.I88T	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	178					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTGCTCAGTTATGACCCAGGT	0.373																																						ENST00000262097.6																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						c.(532-534)aTa>aCa		N-acylsphingosine amidohydrolase (acid ceramidase) 1							142.0	144.0	143.0					8																	17919903		2203	4300	6503	SO:0001583	missense	427				ceramide metabolic process	lysosome	ceramidase activity	g.chr8:17919903A>G	U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.533T>C	8.37:g.17919903A>G	ENSP00000262097:p.Ile178Thr					ASAH1_ENST00000520781.1_Missense_Mutation_p.I153T|ASAH1_ENST00000314146.10_Missense_Mutation_p.I172T|ASAH1_ENST00000417108.2_Missense_Mutation_p.I88T|ASAH1_ENST00000381733.4_Missense_Mutation_p.I194T	p.I178T	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN		Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)	8	844	-			178					E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	ENST00000262097.6	37	c.533T>C	CCDS6006.1	.	.	.	.	.	.	.	.	.	.	A	16.49	3.137719	0.56936	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000417108;ENST00000314146	D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57	5.23	5.23	0.72850	.	0.507513	0.24005	N	0.042435	T	0.80341	0.4605	L	0.46885	1.475	0.40036	D	0.975594	B;B;B;B	0.28055	0.121;0.199;0.086;0.086	B;B;B;B	0.32211	0.14;0.087;0.142;0.142	T	0.79738	-0.1677	10	0.52906	T	0.07	-11.3409	15.0751	0.72071	1.0:0.0:0.0:0.0	.	172;194;153;178	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	T	178;194;153;88;172	ENSP00000262097:I178T;ENSP00000371152:I194T;ENSP00000427751:I153T;ENSP00000394125:I88T;ENSP00000326970:I172T	ENSP00000262097:I178T	I	-	2	0	ASAH1	17964183	0.999000	0.42202	0.643000	0.29450	0.944000	0.59088	8.601000	0.90864	2.101000	0.63845	0.533000	0.62120	ATA		0.373	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2	NM_004315		71	136	0	0	0	1	0	71	136				
LRGUK	136332	broad.mit.edu	37	7	133886296	133886296	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr7:133886296A>G	ENST00000285928.2	+	15	1880	c.1811A>G	c.(1810-1812)gAg>gGg	p.E604G		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	604						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGATTGACTGAGGAACCTGCC	0.388																																						ENST00000285928.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						c.(1810-1812)gAg>gGg		leucine-rich repeats and guanylate kinase domain containing							120.0	106.0	111.0					7																	133886296		2203	4300	6503	SO:0001583	missense	136332						ATP binding|kinase activity	g.chr7:133886296A>G	AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1811A>G	7.37:g.133886296A>G	ENSP00000285928:p.Glu604Gly						p.E604G	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN			15	1880	+			604					Q2M3I1	Missense_Mutation	SNP	ENST00000285928.2	37	c.1811A>G	CCDS5830.1	.	.	.	.	.	.	.	.	.	.	A	12.58	1.979324	0.34942	.	.	ENSG00000155530	ENST00000285928	T	0.39229	1.09	4.89	3.71	0.42584	.	0.417365	0.22918	N	0.054042	T	0.41789	0.1174	M	0.72118	2.19	0.22479	N	0.999062	B	0.11235	0.004	B	0.10450	0.005	T	0.41662	-0.9496	10	0.62326	D	0.03	-10.0626	9.6636	0.39969	0.8243:0.1757:0.0:0.0	.	604	Q96M69	LRGUK_HUMAN	G	604	ENSP00000285928:E604G	ENSP00000285928:E604G	E	+	2	0	LRGUK	133536836	0.684000	0.27642	0.075000	0.20258	0.086000	0.17979	3.536000	0.53582	0.792000	0.33850	0.459000	0.35465	GAG		0.388	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339442.1	NM_144648		50	85	0	0	0	1	0	50	85				
ITGB6	3694	broad.mit.edu	37	2	161052897	161052897	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:161052897C>T	ENST00000283249.2	-	3	413	c.176G>A	c.(175-177)tGt>tAt	p.C59Y	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.C59Y|ITGB6_ENST00000428609.2_Missense_Mutation_p.C17Y|ITGB6_ENST00000409967.2_Missense_Mutation_p.C59Y	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	59					cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|multicellular organismal development (GO:0007275)|viral process (GO:0016032)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGGGGTATCACACCTTTCGCC	0.328																																						ENST00000283249.2																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						c.(175-177)tGt>tAt		integrin, beta 6							126.0	138.0	134.0					2																	161052897		2203	4300	6503	SO:0001583	missense	3694				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity	g.chr2:161052897C>T		CCDS2212.1, CCDS63040.1, CCDS74596.1, CCDS74597.1	2q24.2	2010-03-23			ENSG00000115221	ENSG00000115221		"""Integrins"""	6161	protein-coding gene	gene with protein product		147558				1729173, 8120056	Standard	NM_001282353		Approved		uc002ubh.2	P18564	OTTHUMG00000132026	ENST00000283249.2:c.176G>A	2.37:g.161052897C>T	ENSP00000283249:p.Cys59Tyr					ITGB6_ENST00000428609.2_Missense_Mutation_p.C17Y|ITGB6_ENST00000409872.1_Missense_Mutation_p.C59Y|ITGB6_ENST00000409967.2_Missense_Mutation_p.C59Y|ITGB6_ENST00000485635.1_5'UTR	p.C59Y			P18564	ITB6_HUMAN			3	413	-			59					B2R9W5|C9JA97|Q0VA95|Q16500|Q53RG5|Q53RR6	Missense_Mutation	SNP	ENST00000283249.2	37	c.176G>A	CCDS2212.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287946	0.80803	.	.	ENSG00000115221	ENST00000283249;ENST00000428609;ENST00000409967;ENST00000409872	D;D;D;D	0.98400	-4.91;-4.68;-4.91;-4.91	5.67	5.67	0.87782	Integrin beta subunit, N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.99348	0.9771	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98771	1.0728	10	0.87932	D	0	.	19.7612	0.96319	0.0:1.0:0.0:0.0	.	17;59	E9PEE8;P18564	.;ITB6_HUMAN	Y	59;17;59;59	ENSP00000283249:C59Y;ENSP00000408024:C17Y;ENSP00000386828:C59Y;ENSP00000386367:C59Y	ENSP00000283249:C59Y	C	-	2	0	ITGB6	160761143	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.924000	0.75823	2.670000	0.90874	0.655000	0.94253	TGT		0.328	ITGB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255036.1	NM_000888		106	223	0	0	0	1	0	106	223				
MYO18B	84700	broad.mit.edu	37	22	26239776	26239776	+	Missense_Mutation	SNP	C	C	T	rs34356798		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr22:26239776C>T	ENST00000407587.2	+	18	3455	c.3286C>T	c.(3286-3288)Cgg>Tgg	p.R1096W	MYO18B_ENST00000335473.7_Missense_Mutation_p.R1095W|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1095W			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1095	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCCTGTGCGGTACGACCT	0.612																																						ENST00000335473.7																			0				NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						c.(3283-3285)Cgg>Tgg		myosin XVIIIB							80.0	81.0	80.0					22																	26239776		1982	4150	6132	SO:0001583	missense	84700					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity	g.chr22:26239776C>T	AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.3286C>T	22.37:g.26239776C>T	ENSP00000386096:p.Arg1096Trp					MYO18B_ENST00000407587.2_Missense_Mutation_p.R1096W|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1095W	p.R1095W	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN			18	3533	+			1095		R -> L (in a lung adenocarcinoma sample; somatic mutation).	Myosin head-like.		B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Missense_Mutation	SNP	ENST00000407587.2	37	c.3283C>T		.	.	.	.	.	.	.	.	.	.	C	24.3	4.514755	0.85389	.	.	ENSG00000133454	ENST00000536101;ENST00000335473;ENST00000407587	D;D;D	0.87412	-2.25;-2.25;-2.25	4.55	4.55	0.56014	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.90834	0.7121	L	0.48362	1.52	0.46564	D	0.9991	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.973;0.998;0.992;0.997	D	0.91668	0.5348	10	0.72032	D	0.01	.	14.8836	0.70550	0.0:1.0:0.0:0.0	.	608;1095;1096;1095	Q8IUG5-2;Q8IUG5;F5GXR6;F5GYU7	.;MY18B_HUMAN;.;.	W	1095;1095;1096	ENSP00000441229:R1095W;ENSP00000334563:R1095W;ENSP00000386096:R1096W	ENSP00000334563:R1095W	R	+	1	2	MYO18B	24569776	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.868000	0.39509	2.373000	0.80994	0.650000	0.86243	CGG		0.612	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000400691.1	NM_032608		4	178	0	0	0	1	0	4	178				
KANK1	23189	broad.mit.edu	37	9	732477	732477	+	Silent	SNP	G	G	A	rs569686873|rs370051574		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr9:732477G>A	ENST00000382303.1	+	10	3757	c.3105G>A	c.(3103-3105)gaG>gaA	p.E1035E	KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000382297.2_Silent_p.E1035E|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1035					negative regulation of actin filament polymerization (GO:0030837)|negative regulation of cell migration (GO:0030336)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lamellipodium morphogenesis (GO:2000393)|negative regulation of neuron projection development (GO:0010977)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation of wound healing (GO:0090303)|regulation of establishment of cell polarity (GO:2000114)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	beta-catenin binding (GO:0008013)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGAAGAAGAGGAGGAGGAGG	0.468													G|||	1	0.000199681	0.0	0.0	5008	,	,		19819	0.0		0.0	False		,,,				2504	0.001					ENST00000382303.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43						c.(3103-3105)gaG>gaA		KN motif and ankyrin repeat domains 1							153.0	134.0	140.0					9																	732477		2203	4300	6503	SO:0001819	synonymous_variant	23189				negative regulation of actin filament polymerization	cytoplasm		g.chr9:732477G>A	AL833161	CCDS6441.1, CCDS34976.1	9p24.3	2013-01-10	2008-01-29	2008-01-29	ENSG00000107104	ENSG00000107104		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	19309	protein-coding gene	gene with protein product		607704	"""ankyrin repeat domain 15"""	ANKRD15		12133830, 17996375, 19554261	Standard	NM_015158		Approved	KIAA0172, KANK	uc003zgn.2	Q14678	OTTHUMG00000019434	ENST00000382303.1:c.3105G>A	9.37:g.732477G>A						KANK1_ENST00000382293.3_Silent_p.E877E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.E1035E	p.E1035E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)	10	3757	+		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)	1035					A2A2W8|D3DRH3|Q5W0W0|Q8IY65|Q8WX74	Silent	SNP	ENST00000382303.1	37	c.3105G>A	CCDS34976.1																																																																																				0.468	KANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051484.2	NM_015158		5	251	0	0	0	1	0	5	251				
FRAS1	80144	broad.mit.edu	37	4	79296998	79296998	+	Missense_Mutation	SNP	G	G	C			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:79296998G>C	ENST00000325942.6	+	26	3697	c.3257G>C	c.(3256-3258)gGc>gCc	p.G1086A	FRAS1_ENST00000264895.6_Missense_Mutation_p.G1086A	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1086					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTGTTCCTGGCTTTTCTGTC	0.478																																						ENST00000264895.6																			0				breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						c.(3256-3258)gGc>gCc		Fraser syndrome 1							150.0	142.0	144.0					4																	79296998		1959	4160	6119	SO:0001583	missense	80144				cell communication	integral to membrane|plasma membrane	metal ion binding	g.chr4:79296998G>C	AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.3257G>C	4.37:g.79296998G>C	ENSP00000326330:p.Gly1086Ala					FRAS1_ENST00000325942.6_Missense_Mutation_p.G1086A	p.G1086A	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN			26	3697	+			1085					A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	ENST00000325942.6	37	c.3257G>C	CCDS54772.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913263	0.33815	.	.	ENSG00000138759	ENST00000325942;ENST00000264895	D;D	0.93307	-3.2;-3.2	4.74	2.99	0.34606	.	0.062472	0.64402	D	0.000005	D	0.96528	0.8867	M	0.93197	3.39	0.80722	D	1	D;D	0.71674	0.997;0.998	P;D	0.64776	0.896;0.929	D	0.94882	0.8040	10	0.52906	T	0.07	.	7.5557	0.27822	0.2706:0.0:0.7294:0.0	.	1086;1086	E9PHH6;A2RRR8	.;.	A	1086	ENSP00000326330:G1086A;ENSP00000264895:G1086A	ENSP00000264895:G1086A	G	+	2	0	FRAS1	79516022	1.000000	0.71417	0.998000	0.56505	0.035000	0.12851	2.121000	0.41977	0.531000	0.28639	0.563000	0.77884	GGC		0.478	FRAS1-001	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000362706.2			21	43	0	0	0	1	0	21	43				
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A	rs373338988		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S155S(4)	urinary_tract(1)|large_intestine(1)|lung(1)|kidney(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(463-465)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							10.0	15.0	14.0					9																	20414379		1871	3851	5722	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414379G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.465C>T	9.37:g.20414379G>A						MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S	p.S155S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	751	-			155			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.465C>T	CCDS6494.1																																																																																				0.532	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		6	136	0	0	0	1	0	6	136				
SAMSN1	64092	broad.mit.edu	37	21	15882705	15882705	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr21:15882705G>A	ENST00000400566.1	-	5	568	c.487C>T	c.(487-489)Cca>Tca	p.P163S	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000285670.2_Missense_Mutation_p.P231S	NM_022136.4	NP_071419.3	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	163					negative regulation of adaptive immune response (GO:0002820)|negative regulation of B cell activation (GO:0050869)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)	cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)	phosphotyrosine binding (GO:0001784)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CCACAGAATGGTCCTGAATAG	0.502																																						ENST00000285670.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24						c.(691-693)Cca>Tca		SAM domain, SH3 domain and nuclear localization signals 1							130.0	129.0	129.0					21																	15882705		2156	4273	6429	SO:0001583	missense	64092				negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding	g.chr21:15882705G>A	AF222927	CCDS42906.1, CCDS58786.1, CCDS74774.1	21q11	2013-01-10	2006-12-13		ENSG00000155307	ENSG00000155307		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	10528	protein-coding gene	gene with protein product	"""nuclear localization signals, SAM and SH3 domain containing 1"", ""SAM and SH3 domain containing 2"", ""hematopoietic adapter-containing SH3 and sterile &#945;-motif (SAM) domains 1"", ""Src homology domain 3 (SH3)-containing adapter protein SH3 lymphocyte protein 2"""	607978				11536050, 11594764	Standard	NM_022136		Approved	NASH1, SASH2, SH3D6B, HACS1, SLy2	uc002yjv.1	Q9NSI8	OTTHUMG00000074317	ENST00000400566.1:c.487C>T	21.37:g.15882705G>A	ENSP00000383411:p.Pro163Ser					SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.P163S	p.P231S	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN		Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)	6	865	-			163					B3KWJ3|F8WAA1|Q8NFF7|Q9C041	Missense_Mutation	SNP	ENST00000400566.1	37	c.691C>T	CCDS42906.1	.	.	.	.	.	.	.	.	.	.	G	28.7	4.943791	0.92593	.	.	ENSG00000155307	ENST00000285670;ENST00000400566	T;T	0.52983	0.64;0.64	5.78	5.78	0.91487	Src homology-3 domain (1);	0.169936	0.53938	D	0.000054	T	0.72669	0.3489	M	0.80028	2.48	0.58432	D	0.999994	D;D	0.89917	1.0;0.985	D;P	0.91635	0.999;0.882	T	0.74031	-0.3795	10	0.59425	D	0.04	-16.6638	20.012	0.97458	0.0:0.0:1.0:0.0	.	231;163	F8WAA1;Q9NSI8	.;SAMN1_HUMAN	S	231;163	ENSP00000285670:P231S;ENSP00000383411:P163S	ENSP00000285670:P231S	P	-	1	0	SAMSN1	14804576	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	6.448000	0.73469	2.731000	0.93534	0.655000	0.94253	CCA		0.502	SAMSN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157914.1			15	166	0	0	0	1	0	15	166				
CSF3R	1441	broad.mit.edu	37	1	36932096	36932096	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:36932096C>T	ENST00000373106.1	-	17	2920	c.2373G>A	c.(2371-2373)tgG>tgA	p.W791*	CSF3R_ENST00000373103.1_Nonsense_Mutation_p.W818*|CSF3R_ENST00000361632.4_Nonsense_Mutation_p.W791*|CSF3R_ENST00000418048.2_Nonsense_Mutation_p.W791*|CSF3R_ENST00000440588.2_Nonsense_Mutation_p.W818*|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.G760D|MRPS15_ENST00000373116.5_5'Flank	NM_000760.3	NP_000751.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	791					cell adhesion (GO:0007155)|defense response (GO:0006952)|neutrophil chemotaxis (GO:0030593)|odontogenesis of dentin-containing tooth (GO:0042475)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	cytokine receptor activity (GO:0004896)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGGCCTGGAACCAGAGGTTCT	0.657																																						ENST00000373103.1																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(2452-2454)tgG>tgA		colony stimulating factor 3 receptor (granulocyte)	Filgrastim(DB00099)|Pegfilgrastim(DB00019)						14.0	17.0	16.0					1																	36932096		2203	4300	6503	SO:0001587	stop_gained	1441				cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	g.chr1:36932096C>T	M59820	CCDS412.1, CCDS413.1, CCDS414.1	1p35-p34.3	2014-09-17			ENSG00000119535	ENSG00000119535		"""CD molecules"", ""Fibronectin type III domain containing"""	2439	protein-coding gene	gene with protein product		138971		CD114		1371413	Standard	NM_000760		Approved	GCSFR	uc001cax.2	Q99062	OTTHUMG00000008010	ENST00000373106.1:c.2373G>A	1.37:g.36932096C>T	ENSP00000362198:p.Trp791*					CSF3R_ENST00000361632.4_Nonsense_Mutation_p.W791*|CSF3R_ENST00000440588.2_Nonsense_Mutation_p.W818*|CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000418048.2_Nonsense_Mutation_p.W791*|CSF3R_ENST00000373106.1_Nonsense_Mutation_p.W791*|CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Missense_Mutation_p.G760D	p.W818*	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN			17	3001	-		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	791						Nonsense_Mutation	SNP	ENST00000373106.1	37	c.2454G>A	CCDS413.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.50|18.50	3.637864|3.637864	0.67130|0.67130	.|.	.|.	ENSG00000119535|ENSG00000119535	ENST00000464465;ENST00000338937|ENST00000373106;ENST00000373103;ENST00000361632;ENST00000418048;ENST00000440588	T|.	0.38722|.	1.12|.	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	.|0.704143	.|0.14561	.|N	.|0.312058	T|.	0.65883|.	0.2734|.	.|.	.|.	.|.	0.31123|0.31123	N|N	0.708593|0.708593	D|.	0.89917|.	1.0|.	D|.	0.72625|.	0.978|.	T|.	0.68595|.	-0.5367|.	8|.	0.87932|0.87932	D|D	0|0	-9.1098|-9.1098	16.6824|16.6824	0.85296|0.85296	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	760|.	E1B6W6|.	.|.	D|X	343;760|791;818;791;791;818	ENSP00000345013:G760D|.	ENSP00000345013:G760D|ENSP00000355406:W791X	G|W	-|-	2|3	0|0	CSF3R|CSF3R	36704683|36704683	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.486000|0.486000	0.33341|0.33341	3.076000|3.076000	0.50081|0.50081	2.793000|2.793000	0.96121|0.96121	0.655000|0.655000	0.94253|0.94253	GGT|TGG		0.657	CSF3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021997.2	NM_156039		4	23	0	0	0	1	0	4	23				
FHDC1	85462	broad.mit.edu	37	4	153864692	153864692	+	Silent	SNP	A	A	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:153864692A>G	ENST00000511601.1	+	2	671	c.483A>G	c.(481-483)agA>agG	p.R161R	FHDC1_ENST00000260008.3_Silent_p.R161R			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	161	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CATCCTTCAGAGAAGCTCGAG	0.428																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(481-483)agA>agG		FH2 domain containing 1							51.0	56.0	55.0					4																	153864692		2193	4297	6490	SO:0001819	synonymous_variant	85462				actin cytoskeleton organization		actin binding	g.chr4:153864692A>G	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.483A>G	4.37:g.153864692A>G						FHDC1_ENST00000260008.3_Silent_p.R161R	p.R161R			Q9C0D6	FHDC1_HUMAN			2	671	+	all_hematologic(180;0.093)		161			FH2.			Silent	SNP	ENST00000511601.1	37	c.483A>G	CCDS34081.1																																																																																				0.428	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		51	84	0	0	0	1	0	51	84				
FAM183B	340286	broad.mit.edu	37	7	38725296	38725296	+	Missense_Mutation	SNP	G	G	A	rs373142679		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr7:38725296G>A	ENST00000409072.3	-	2	1244	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C				Q6ZVS7	F183B_HUMAN	family with sequence similarity 183, member B	104										endometrium(1)|lung(7)	8						TGGTCACGGCGTTCTGGGTCG	0.527																																						ENST00000409072.3																			0				endometrium(1)|lung(7)	8						c.(310-312)Cgc>Tgc		family with sequence similarity 183, member B		G		0,3988		0,0,1994	183.0	183.0	183.0			0.0	0.0	7		183	2,8344		0,2,4171	no	intergenic				0,2,6165	AA,AG,GG		0.024,0.0,0.0162			38725296	2,12332	1994	4173	6167	SO:0001583	missense	340286							g.chr7:38725296G>A	AK124132, BC045803		7p14.1	2008-08-11			ENSG00000164556	ENSG00000164556			34511	protein-coding gene	gene with protein product							Standard	NR_028347		Approved	LOC340286	uc011kbd.2	Q6ZVS7	OTTHUMG00000153653	ENST00000409072.3:c.310C>T	7.37:g.38725296G>A	ENSP00000386657:p.Arg104Cys						p.R104C							2	1244	-								A4D1Y1	Missense_Mutation	SNP	ENST00000409072.3	37	c.310C>T		.	.	.	.	.	.	.	.	.	.	G	10.13	1.264836	0.23136	0.0	2.4E-4	ENSG00000164556	ENST00000409072	.	.	.	0.962	0.0343	0.14183	.	0.163918	0.38720	N	0.001598	T	0.34803	0.0910	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.26503	-1.0101	6	0.72032	D	0.01	.	3.2511	0.06815	0.3098:0.0:0.6902:0.0	.	.	.	.	C	104	.	ENSP00000386657:R104C	R	-	1	0	FAM183B	38691821	0.002000	0.14202	0.005000	0.12908	0.002000	0.02628	-0.238000	0.08977	-0.019000	0.14055	-0.251000	0.11542	CGC		0.527	FAM183B-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331972.1	NM_001105282		18	399	0	0	0	1	0	18	399				
PNCK	139728	broad.mit.edu	37	X	152938703	152938703	+	Intron	SNP	C	C	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chrX:152938703C>A	ENST00000370150.1	-	2	177				PNCK_ENST00000370142.1_Intron|PNCK_ENST00000447676.2_Intron|PNCK_ENST00000340888.3_Intron|PNCK_ENST00000475172.1_Intron|PNCK_ENST00000370145.4_Missense_Mutation_p.G8V|PNCK_ENST00000393831.2_Intron			Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCGAGGCCACCGCATAC	0.716																																						ENST00000370145.4																			0				breast(2)|lung(3)|skin(1)	6						c.(22-24)gGc>gTc		pregnancy up-regulated nonubiquitous CaM kinase							53.0	58.0	57.0					X																	152938703		1555	3565	5120	SO:0001627	intron_variant	139728					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chrX:152938703C>A	BC033746	CCDS35503.2, CCDS48189.1	Xq28	2013-10-14	2013-10-14		ENSG00000130822	ENSG00000130822			13415	protein-coding gene	gene with protein product		300680	"""pregnancy upregulated non-ubiquitously expressed CaM kinase"", ""pregnancy up-regulated non-ubiquitously expressed CaM kinase"""			12477932	Standard	NM_001039582		Approved	MGC45419, CaMK1b	uc011myu.2	Q6P2M8	OTTHUMG00000024216	ENST00000370150.1:c.2-170G>T	X.37:g.152938703C>A						PNCK_ENST00000447676.2_Intron|PNCK_ENST00000475172.1_Intron|PNCK_ENST00000340888.3_Intron|PNCK_ENST00000393831.2_Intron|PNCK_ENST00000370142.1_Intron|PNCK_ENST00000370150.1_Intron	p.G8V	NM_001135740.1	NP_001129212.1	Q6P2M8	KCC1B_HUMAN			1	40	-	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		0					B4DJR8|B4E1A6|B7WPG0|D3DWU7|Q8N4R0	Missense_Mutation	SNP	ENST00000370150.1	37	c.23G>T		.	.	.	.	.	.	.	.	.	.	c	9.668	1.145956	0.21288	.	.	ENSG00000130822	ENST00000370145	T	0.67345	-0.26	2.47	0.553	0.17235	.	.	.	.	.	T	0.46288	0.1385	.	.	.	0.09310	N	0.999998	P	0.38827	0.649	B	0.26517	0.07	T	0.35101	-0.9802	8	0.87932	D	0	.	4.5678	0.12195	0.0:0.6378:0.0:0.3622	.	8	B4E1A6	.	V	8	ENSP00000359164:G8V	ENSP00000359164:G8V	G	-	2	0	PNCK	152591897	0.000000	0.05858	0.002000	0.10522	0.083000	0.17756	-2.346000	0.01096	-0.115000	0.11915	0.423000	0.28283	GGC		0.716	PNCK-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000061044.2	NM_198452		13	26	1	0	1.3612e-06	1	1.47957e-06	13	26				
LRP2	4036	broad.mit.edu	37	2	170093674	170093674	+	Missense_Mutation	SNP	T	T	C			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:170093674T>C	ENST00000263816.3	-	28	4915	c.4630A>G	c.(4630-4632)Act>Gct	p.T1544A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1544					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	ATCAGCACAGTCCTGTGGCTC	0.378																																						ENST00000263816.3																			0				biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315						c.(4630-4632)Act>Gct		low density lipoprotein receptor-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						147.0	143.0	144.0					2																	170093674		2203	4300	6503	SO:0001583	missense	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170093674T>C		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.4630A>G	2.37:g.170093674T>C	ENSP00000263816:p.Thr1544Ala						p.T1544A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	28	4915	-			1544					O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	c.4630A>G	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.345932	0.61073	.	.	ENSG00000081479	ENST00000263816	D	0.93307	-3.2	5.32	4.17	0.49024	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	0.203054	0.50627	N	0.000101	D	0.88695	0.6506	N	0.20845	0.615	0.80722	D	1	D	0.58268	0.982	P	0.51742	0.678	D	0.84664	0.0708	10	0.07175	T	0.84	.	11.0565	0.47922	0.0:0.0728:0.0:0.9272	.	1544	P98164	LRP2_HUMAN	A	1544	ENSP00000263816:T1544A	ENSP00000263816:T1544A	T	-	1	0	LRP2	169801920	1.000000	0.71417	0.992000	0.48379	0.967000	0.64934	4.187000	0.58344	0.970000	0.38263	0.528000	0.53228	ACT		0.378	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		95	156	0	0	0	1	0	95	156				
ABI3BP	25890	broad.mit.edu	37	3	100527058	100527058	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:100527058G>A	ENST00000284322.5	-	19	1728	c.1619C>T	c.(1618-1620)gCt>gTt	p.A540V	ABI3BP_ENST00000471714.1_Missense_Mutation_p.A1217V|ABI3BP_ENST00000383691.4_Missense_Mutation_p.A494V	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	540	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTTAGGAGGAGCACGTGGTGT	0.428																																						ENST00000471714.1																			0				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(3649-3651)gCt>gTt		ABI family, member 3 (NESH) binding protein							111.0	108.0	109.0					3																	100527058		1921	4138	6059	SO:0001583	missense	25890					extracellular space		g.chr3:100527058G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1619C>T	3.37:g.100527058G>A	ENSP00000284322:p.Ala540Val					ABI3BP_ENST00000383691.4_Missense_Mutation_p.A494V|ABI3BP_ENST00000284322.5_Missense_Mutation_p.A540V	p.A1217V			Q7Z7G0	TARSH_HUMAN			50	3759	-			540					B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.3650C>T	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.601|3.601	-0.081493|-0.081493	0.07141|0.07141	.|.	.|.	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000383692;ENST00000383691;ENST00000482765;ENST00000533795|ENST00000495591;ENST00000471901;ENST00000527943;ENST00000478235	T;T;T;T|.	0.55930|.	1.84;0.49;1.84;1.84|.	5.43|5.43	2.59|2.59	0.31030|0.31030	.|.	1.034900|.	0.07600|.	N|.	0.923476|.	T|T	0.33089|0.33089	0.0851|0.0851	L|L	0.33485|0.33485	1.01|1.01	0.18873|0.18873	N|N	0.999984|0.999984	B;B;P;B|.	0.40398|.	0.02;0.204;0.716;0.126|.	B;B;B;B|.	0.36186|.	0.008;0.055;0.219;0.035|.	T|T	0.20075|0.20075	-1.0286|-1.0286	10|5	0.12766|.	T|.	0.61|.	0.1892|0.1892	7.5275|7.5275	0.27664|0.27664	0.26:0.0:0.74:0.0|0.26:0.0:0.74:0.0	.|.	494;540;1217;224|.	B4DSV9;Q7Z7G0;D3YTG3;D3YTD6|.	.;TARSH_HUMAN;.;.|.	V|F	1217;540;224;494;89;181|596;120;46;118	ENSP00000420524:A1217V;ENSP00000284322:A540V;ENSP00000373189:A494V;ENSP00000418800:A89V|.	ENSP00000284322:A540V|.	A|L	-|-	2|1	0|0	ABI3BP|ABI3BP	102009748|102009748	0.755000|0.755000	0.28372|0.28372	0.537000|0.537000	0.28052|0.28052	0.855000|0.855000	0.48748|0.48748	0.898000|0.898000	0.28404|0.28404	0.747000|0.747000	0.32809|0.32809	0.585000|0.585000	0.79938|0.79938	GCT|CTC		0.428	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			17	32	0	0	0	1	0	17	32				
CDC37	11140	broad.mit.edu	37	19	10505756	10505756	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr19:10505756C>T	ENST00000222005.2	-	5	720	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	223					protein targeting (GO:0006605)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGGCTCTTGGCCAGCTCCAGG	0.592																																						ENST00000222005.2																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16						c.(667-669)Gcc>Acc		cell division cycle 37							76.0	72.0	73.0					19																	10505756		2203	4300	6503	SO:0001583	missense	11140				protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	g.chr19:10505756C>T	U63131	CCDS12237.1	19p13.2	2013-01-17	2013-01-17		ENSG00000105401	ENSG00000105401			1735	protein-coding gene	gene with protein product	"""CDC37 cell division cycle 37 homolog"", ""Hsp90 co-chaperone Cdc37"", ""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"""	605065	"""CDC37 (cell division cycle 37, S. cerevisiae, homolog)"", ""CDC37 cell division cycle 37 homolog (S. cerevisiae)"", ""cell division cycle 37 homolog (S. cerevisiae)"""			8703009, 8666233	Standard	NM_007065		Approved	P50CDC37	uc002mof.1	Q16543		ENST00000222005.2:c.667G>A	19.37:g.10505756C>T	ENSP00000222005:p.Ala223Thr						p.A223T	NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)	5	720	-			223					Q53YA2	Missense_Mutation	SNP	ENST00000222005.2	37	c.667G>A	CCDS12237.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254584	0.80135	.	.	ENSG00000105401	ENST00000222005	T	0.54279	0.58	3.94	3.94	0.45596	Cdc37, Hsp90 binding (1);	0.000000	0.85682	D	0.000000	T	0.57989	0.2091	M	0.77616	2.38	0.80722	D	1	P;P	0.43938	0.822;0.822	B;B	0.43331	0.416;0.416	T	0.67991	-0.5527	10	0.87932	D	0	.	13.8297	0.63373	0.0:1.0:0.0:0.0	.	223;223	Q6FG59;Q16543	.;CDC37_HUMAN	T	223	ENSP00000222005:A223T	ENSP00000222005:A223T	A	-	1	0	CDC37	10366756	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	6.996000	0.76263	1.913000	0.55393	0.561000	0.74099	GCC		0.592	CDC37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451987.1	NM_007065		4	174	0	0	0	1	0	4	174				
KCNJ12	3768	broad.mit.edu	37	17	21319252	21319252	+	Missense_Mutation	SNP	G	G	A	rs561218777		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr17:21319252G>A	ENST00000583088.1	+	3	1493	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A200T	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	200					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	CAGCCACAACGCCGTGGTGGC	0.612										Prostate(3;0.18)																												ENST00000583088.1																			0				NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70						c.(598-600)Gcc>Acc		potassium inwardly-rectifying channel, subfamily J, member 12							83.0	73.0	76.0					17																	21319252		2203	4300	6503	SO:0001583	missense	3768							g.chr17:21319252G>A	L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.598G>A	17.37:g.21319252G>A	ENSP00000463778:p.Ala200Thr	Prostate(3;0.18)				KCNJ12_ENST00000331718.5_Missense_Mutation_p.A200T	p.A200T	NM_021012.4	NP_066292.2				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	3	1493	+								O43401|Q15756|Q8NG63	Missense_Mutation	SNP	ENST00000583088.1	37	c.598G>A	CCDS11219.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.784982	0.90282	.	.	ENSG00000184185	ENST00000331718	D	0.95171	-3.63	5.32	5.32	0.75619	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98510	0.9503	H	0.97983	4.12	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99731	1.1012	10	0.87932	D	0	.	18.9979	0.92821	0.0:0.0:1.0:0.0	.	200	Q14500	IRK12_HUMAN	T	200	ENSP00000328150:A200T	ENSP00000328150:A200T	A	+	1	0	KCNJ12	21259845	1.000000	0.71417	0.969000	0.41365	0.927000	0.56198	9.690000	0.98676	2.496000	0.84212	0.655000	0.94253	GCC		0.612	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255060.2	NM_021012		18	101	0	0	0	1	0	18	101				
SETDB1	9869	broad.mit.edu	37	1	150916431	150916431	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:150916431A>G	ENST00000271640.5	+	8	1101	c.911A>G	c.(910-912)tAt>tGt	p.Y304C	SETDB1_ENST00000368969.4_Missense_Mutation_p.Y304C|SETDB1_ENST00000368962.2_Missense_Mutation_p.Y304C|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368963.1_Missense_Mutation_p.M237V	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	304	Tudor 1.				bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)	p.Y304C(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATGCTTCCTATGTCACACAG	0.408																																						ENST00000271640.5																			1	Substitution - Missense(1)	p.Y304C(1)	ovary(1)	NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12						c.(910-912)tAt>tGt		SET domain, bifurcated 1							204.0	181.0	189.0					1																	150916431		2203	4300	6503	SO:0001583	missense	9869				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	g.chr1:150916431A>G	D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.911A>G	1.37:g.150916431A>G	ENSP00000271640:p.Tyr304Cys					SETDB1_ENST00000368962.2_Missense_Mutation_p.Y304C|SETDB1_ENST00000368963.1_Missense_Mutation_p.237_237insV|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.Y304C	p.Y304C	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)		8	1101	+	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		304			Tudor 1.		A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Missense_Mutation	SNP	ENST00000271640.5	37	c.911A>G	CCDS44217.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.504929|4.504929	0.85282|0.85282	.|.	.|.	ENSG00000143379|ENSG00000143379	ENST00000368963|ENST00000271640;ENST00000368962;ENST00000534805;ENST00000368969;ENST00000498193;ENST00000413562	.|T;T;T;T;T	.|0.43688	.|0.94;0.94;0.94;0.94;0.94	5.17|5.17	5.17|5.17	0.71159|0.71159	.|Tudor domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57272|0.57272	0.2042|0.2042	M|M	0.78456|0.78456	2.415|2.415	0.32013|0.32013	N|N	0.601802|0.601802	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;1.0;0.999;0.999	T|T	0.63804|0.63804	-0.6554|-0.6554	6|10	0.87932|0.87932	D|D	0|0	.|.	15.187|15.187	0.73009|0.73009	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|304;304;304;304;304	.|E9PRF4;E9PQM8;Q15047-2;Q15047-3;Q15047	.|.;.;.;.;SETB1_HUMAN	V|C	237|304;304;304;304;304;147	.|ENSP00000271640:Y304C;ENSP00000357958:Y304C;ENSP00000436148:Y304C;ENSP00000357965:Y304C;ENSP00000432348:Y304C	ENSP00000357959:M237V|ENSP00000271640:Y304C	M|Y	+|+	1|2	0|0	SETDB1|SETDB1	149183055|149183055	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	8.222000|8.222000	0.89777|0.89777	2.177000|2.177000	0.69029|0.69029	0.377000|0.377000	0.23210|0.23210	ATG|TAT		0.408	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000084717.2			68	128	0	0	0	1	0	68	128				
SRSF3	6428	broad.mit.edu	37	6	36564571	36564571	+	Missense_Mutation	SNP	A	A	G			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr6:36564571A>G	ENST00000373715.6	+	2	148	c.32A>G	c.(31-33)aAg>aGg	p.K11R	SRSF3_ENST00000339436.7_Missense_Mutation_p.K11R	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN	serine/arginine-rich splicing factor 3	11	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficiernt for interaction with NXF1.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						TTGGACTGTAAGGTTTATGTA	0.398																																						ENST00000373715.6																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(2)	7						c.(31-33)aAg>aGg		serine/arginine-rich splicing factor 3							141.0	138.0	139.0					6																	36564571		2203	4300	6503	SO:0001583	missense	6428				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	g.chr6:36564571A>G	L10838	CCDS4823.1	6p21	2013-02-12	2010-06-22	2010-06-22	ENSG00000112081	ENSG00000112081		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10785	protein-coding gene	gene with protein product		603364	"""splicing factor, arginine/serine-rich 3"""	SFRS3		1577277, 20516191	Standard	NM_003017		Approved	SRp20	uc003omj.3	P84103	OTTHUMG00000014599	ENST00000373715.6:c.32A>G	6.37:g.36564571A>G	ENSP00000362820:p.Lys11Arg					SRSF3_ENST00000339436.7_Missense_Mutation_p.K11R	p.K11R	NM_003017.4	NP_003008.1	P84103	SRSF3_HUMAN			2	148	+			11			RRM.		B4E241|O08831|P23152|Q5R3K0	Missense_Mutation	SNP	ENST00000373715.6	37	c.32A>G	CCDS4823.1	.	.	.	.	.	.	.	.	.	.	A	15.98	2.991344	0.54041	.	.	ENSG00000112081	ENST00000373715;ENST00000339436	T;T	0.74526	3.02;-0.85	5.32	5.32	0.75619	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.042958	0.85682	D	0.000000	T	0.52354	0.1729	N	0.05487	-0.04	0.80722	D	1	B;P	0.42161	0.152;0.772	B;P	0.47206	0.145;0.541	T	0.61700	-0.7009	10	0.35671	T	0.21	.	15.5789	0.76418	1.0:0.0:0.0:0.0	.	11;11	B4E241;P84103	.;SRSF3_HUMAN	R	11	ENSP00000362820:K11R;ENSP00000344762:K11R	ENSP00000344762:K11R	K	+	2	0	SRSF3	36672549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.140000	0.66376	0.459000	0.35465	AAG		0.398	SRSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040347.2	NM_003017		123	230	0	0	0	1	0	123	230				
PRELP	5549	broad.mit.edu	37	1	203452722	203452722	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:203452722G>A	ENST00000343110.2	+	2	537	c.410G>A	c.(409-411)cGa>cAa	p.R137Q		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	137					carbohydrate metabolic process (GO:0005975)|cell aging (GO:0007569)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GACAACAACCGAATCCGCAAG	0.552																																						ENST00000343110.2																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(409-411)cGa>cAa		proline/arginine-rich end leucine-rich repeat protein							88.0	88.0	88.0					1																	203452722		2203	4300	6503	SO:0001583	missense	5549				skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent	g.chr1:203452722G>A	BC032498	CCDS1438.1	1q32	2008-02-05	2005-07-24		ENSG00000188783	ENSG00000188783		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	9357	protein-coding gene	gene with protein product	"""prolargin proteoglycan"""	601914	"""proline arginine-rich end leucine-rich repeat protein"""				Standard	NM_002725		Approved	SLRR2A, prolargin	uc001gzt.3	P51888	OTTHUMG00000035911	ENST00000343110.2:c.410G>A	1.37:g.203452722G>A	ENSP00000343924:p.Arg137Gln						p.R137Q	NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		2	537	+			137					Q6FG38	Missense_Mutation	SNP	ENST00000343110.2	37	c.410G>A	CCDS1438.1	.	.	.	.	.	.	.	.	.	.	G	8.348	0.830279	0.16749	.	.	ENSG00000188783	ENST00000343110	T	0.57907	0.37	4.71	2.84	0.33178	.	0.321794	0.29403	N	0.012255	T	0.25419	0.0618	N	0.04132	-0.27	0.41453	D	0.987999	B	0.29212	0.237	B	0.22880	0.042	T	0.04664	-1.0935	10	0.23891	T	0.37	-23.7212	9.4716	0.38847	0.175:0.0:0.825:0.0	.	137	P51888	PRELP_HUMAN	Q	137	ENSP00000343924:R137Q	ENSP00000343924:R137Q	R	+	2	0	PRELP	201719345	1.000000	0.71417	0.444000	0.26895	0.970000	0.65996	4.227000	0.58612	0.422000	0.26005	0.462000	0.41574	CGA		0.552	PRELP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087474.1	NM_002725		4	174	0	0	0	1	0	4	174				
ZNF733P	643955	broad.mit.edu	37	7	62752635	62752635	+	RNA	SNP	G	G	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr7:62752635G>T	ENST00000331425.6	-	0	800					NR_003952.1				zinc finger protein 733, pseudogene																		GCGCCTAAAGGCTTGGCCACA	0.458																																						ENST00000331425.6																			0																																																			0							g.chr7:62752635G>T			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752635G>T								NR_003952.1						0	800	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.458	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			5	142	1	0	0.0293803	1	0.0297774	5	142				
TIMD4	91937	broad.mit.edu	37	5	156378598	156378598	+	Missense_Mutation	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:156378598G>A	ENST00000274532.2	-	3	660	c.604C>T	c.(604-606)Cca>Tca	p.P202S	TIMD4_ENST00000407087.3_Missense_Mutation_p.P202S	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	202	Thr-rich.					integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGGTGCTTGGGGTTAGTGAA	0.537																																						ENST00000274532.2																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37						c.(604-606)Cca>Tca		T-cell immunoglobulin and mucin domain containing 4							349.0	303.0	319.0					5																	156378598		2203	4300	6503	SO:0001583	missense	91937					integral to membrane		g.chr5:156378598G>A	BC008988	CCDS4332.1, CCDS54943.1	5q33.3	2013-01-11			ENSG00000145850	ENSG00000145850		"""Immunoglobulin superfamily / V-set domain containing"""	25132	protein-coding gene	gene with protein product		610096				12477932	Standard	NM_001146726		Approved		uc003lwh.2	Q96H15	OTTHUMG00000130244	ENST00000274532.2:c.604C>T	5.37:g.156378598G>A	ENSP00000274532:p.Pro202Ser					TIMD4_ENST00000407087.3_Missense_Mutation_p.P202S	p.P202S	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	660	-	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	202			Thr-rich.		B5MCL9	Missense_Mutation	SNP	ENST00000274532.2	37	c.604C>T	CCDS4332.1	.	.	.	.	.	.	.	.	.	.	G	5.121	0.208023	0.09704	.	.	ENSG00000145850	ENST00000274532;ENST00000407087	T;T	0.18657	2.2;2.2	4.6	0.468	0.16732	.	1.115670	0.06854	N	0.797841	T	0.11793	0.0287	N	0.17082	0.46	0.09310	N	1	B;B	0.15141	0.012;0.012	B;B	0.14023	0.01;0.01	T	0.33929	-0.9849	10	0.41790	T	0.15	0.1635	3.1209	0.06391	0.3111:0.0:0.5003:0.1886	.	202;202	B5MCL9;Q96H15	.;TIMD4_HUMAN	S	202	ENSP00000274532:P202S;ENSP00000385973:P202S	ENSP00000274532:P202S	P	-	1	0	TIMD4	156311176	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.029000	0.13666	0.248000	0.21435	-0.258000	0.10820	CCA		0.537	TIMD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252568.1	NM_138379		64	133	0	0	0	1	0	64	133				
XIST	7503	broad.mit.edu	37	X	73063859	73063859	+	lincRNA	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chrX:73063859G>A	ENST00000429829.1	-	0	8729					NR_001564.2				X inactive specific transcript (non-protein coding)																		AGAAGTGATAGGGTTGTGGAC	0.413																																						ENST00000429829.1																			0																				61.0	57.0	58.0					X																	73063859		876	1991	2867			0							g.chrX:73063859G>A	M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73063859G>A								NR_001564.2						0	8729	-									RNA	SNP	ENST00000429829.1	37																																																																																						0.413	XIST-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057239.1	NR_001564		32	60	0	0	0	1	0	32	60				
SH2D2A	9047	broad.mit.edu	37	1	156784873	156784873	+	Silent	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:156784873C>T	ENST00000368199.3	-	3	417	c.264G>A	c.(262-264)caG>caA	p.Q88Q	SH2D2A_ENST00000495306.1_5'UTR|SH2D2A_ENST00000392306.2_Silent_p.Q88Q|SH2D2A_ENST00000368198.3_Silent_p.Q70Q|NTRK1_ENST00000392302.2_5'Flank	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	88					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCCCCGTGCTGCAGGAGCC	0.642																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(262-264)caG>caA		SH2 domain containing 2A							34.0	34.0	34.0					1																	156784873		2203	4300	6503	SO:0001819	synonymous_variant	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156784873C>T	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.264G>A	1.37:g.156784873C>T						SH2D2A_ENST00000495306.1_5'UTR|SH2D2A_ENST00000368199.3_Silent_p.Q88Q|SH2D2A_ENST00000368198.3_Silent_p.Q70Q	p.Q88Q	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			3	403	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		88					O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP	ENST00000368199.3	37	c.264G>A	CCDS1159.1																																																																																				0.642	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		3	39	0	0	0	1	0	3	39				
IGSF10	285313	broad.mit.edu	37	3	151164884	151164884	+	Missense_Mutation	SNP	C	C	T			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:151164884C>T	ENST00000282466.3	-	4	2884	c.2885G>A	c.(2884-2886)aGt>aAt	p.S962N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	962					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGGGTTCACTCACTTCTCT	0.408																																						ENST00000282466.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116						c.(2884-2886)aGt>aAt		immunoglobulin superfamily, member 10							174.0	168.0	170.0					3																	151164884		2203	4300	6503	SO:0001583	missense	285313				cell differentiation|multicellular organismal development|ossification	extracellular region		g.chr3:151164884C>T	AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.2885G>A	3.37:g.151164884C>T	ENSP00000282466:p.Ser962Asn						p.S962N	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		4	2884	-			962					Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	ENST00000282466.3	37	c.2885G>A	CCDS3160.1	.	.	.	.	.	.	.	.	.	.	C	8.832	0.940189	0.18281	.	.	ENSG00000152580	ENST00000282466	T	0.70399	-0.48	5.13	0.643	0.17770	.	0.688080	0.12981	N	0.423303	T	0.46249	0.1383	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.31336	-0.9947	10	0.37606	T	0.19	.	7.2621	0.26209	0.0:0.5776:0.1222:0.3002	.	962	Q6WRI0	IGS10_HUMAN	N	962	ENSP00000282466:S962N	ENSP00000282466:S962N	S	-	2	0	IGSF10	152647574	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.414000	0.21164	0.179000	0.19938	-0.229000	0.12294	AGT		0.408	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357782.1	NM_178822		82	173	0	0	0	1	0	82	173				
SERPINE1	5054	broad.mit.edu	37	7	100779027	100779027	+	Silent	SNP	G	G	A			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr7:100779027G>A	ENST00000223095.4	+	7	1189	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	SERPINE1_ENST00000445463.2_Silent_p.L329L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	344					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to lipopolysaccharide (GO:0071222)|chronological cell aging (GO:0001300)|defense response to Gram-negative bacterium (GO:0050829)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|gene expression (GO:0010467)|negative regulation of blood coagulation (GO:0030195)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell migration (GO:0030336)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of plasminogen activation (GO:0010757)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell-matrix adhesion (GO:2000098)|negative regulation of vascular wound healing (GO:0061044)|negative regulation of wound healing (GO:0061045)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of leukotriene production involved in inflammatory response (GO:0035491)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of receptor activity (GO:0010469)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Alteplase(DB00009)|Anistreplase(DB00029)|Drotrecogin alfa(DB00055)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CGCAGGCGCTGCAGAAAGTGA	0.572																																						ENST00000223095.4																			0				central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20						c.(1030-1032)ctG>ctA		serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)						91.0	82.0	85.0					7																	100779027		2203	4300	6503	SO:0001819	synonymous_variant	5054				angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	g.chr7:100779027G>A	M16006	CCDS5711.1	7q22.1	2014-02-18	2005-08-18		ENSG00000106366	ENSG00000106366		"""Serine (or cysteine) peptidase inhibitors"""	8583	protein-coding gene	gene with protein product	"""plasminogen activator inhibitor, type I"""	173360	"""serine (or cysteine) proteinase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1"""	PLANH1, PAI1		3097076, 2891140, 24172014	Standard	NM_000602		Approved	PAI	uc003uxt.4	P05121	OTTHUMG00000157107	ENST00000223095.4:c.1032G>A	7.37:g.100779027G>A						SERPINE1_ENST00000445463.2_Silent_p.L329L	p.L344L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN			7	1189	+	Lung NSC(181;0.136)|all_lung(186;0.182)		344					B7Z4S0|F8WD53	Silent	SNP	ENST00000223095.4	37	c.1032G>A	CCDS5711.1																																																																																				0.572	SERPINE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347458.1	NM_000602		4	147	0	0	0	1	0	4	147				
TRMT6	51605	broad.mit.edu	37	20	5927167	5927167	+	Silent	SNP	G	G	A	rs374176622		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr20:5927167G>A	ENST00000203001.2	-	2	271	c.141C>T	c.(139-141)ttC>ttT	p.F47F	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	47					regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ACTGTTTTTCGAAAGTTACTT	0.373																																						ENST00000203001.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						c.(139-141)ttC>ttT		tRNA methyltransferase 6 homolog (S. cerevisiae)		G		2,4404	4.2+/-10.8	0,2,2201	126.0	105.0	112.0		141	3.2	1.0	20		112	0,8600		0,0,4300	no	coding-synonymous	TRMT6	NM_015939.3		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		47/498	5927167	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	51605				regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity	g.chr20:5927167G>A	AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.141C>T	20.37:g.5927167G>A						TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_5'UTR	p.F47F	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN			2	271	-			47					B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	Silent	SNP	ENST00000203001.2	37	c.141C>T	CCDS13093.1																																																																																				0.373	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077889.2			43	80	0	0	0	1	0	43	80				
RP11-782C8.2	0	broad.mit.edu	37	1	143189585	143189587	+	lincRNA	DEL	TAA	TAA	-	rs568008892	byFrequency	TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:143189585_143189587delTAA	ENST00000412204.2	-	0	2449				RP11-782C8.3_ENST00000425124.1_lincRNA|RP11-782C8.1_ENST00000438000.1_lincRNA																							TTATCAGAGTTAATAAGAACGAG	0.251														5	0.000998403	0.0	0.0	5008	,	,		17218	0.0		0.0	False		,,,				2504	0.0051					ENST00000412204.2																			0																																																			0							g.chr1:143189585_143189587delTAA																													1.37:g.143189588_143189590delTAA						RP11-782C8.3_ENST00000425124.1_lincRNA|RP11-782C8.1_ENST00000438000.1_lincRNA								0	2449	-									RNA	DEL	ENST00000412204.2	37																																																																																						0.251	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			5	11						5	11	---	---	---	---
SORBS2	8470	broad.mit.edu	37	4	186559269	186559269	+	Intron	DEL	C	C	-			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:186559269delC	ENST00000284776.7	-	11	1194				SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Frame_Shift_Del_p.W290fs|SORBS2_ENST00000418609.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2						actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGAATTTATACCAGGGCTCAT	0.383																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000393528.3																			0				endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(868-870)tgfs		sorbin and SH3 domain containing 2							123.0	119.0	120.0					4																	186559269		1831	4077	5908	SO:0001627	intron_variant	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186559269delC		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.685-7517G>-	4.37:g.186559269delC						SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000418609.1_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000437304.2_Intron	p.W290fs	NM_003603.5	NP_003594.3	O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	12	1607	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	228					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Frame_Shift_Del	DEL	ENST00000284776.7	37	c.870delG	CCDS3845.1																																																																																				0.383	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		92	187						92	187	---	---	---	---
ZMIZ1	57178	broad.mit.edu	37	10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-	rs201441910		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635																																						ENST00000334512.5																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30						c.(2941-2946)gct>g		zinc finger, MIZ-type containing 1				27,4237		10,7,2115						4.7	1.0			109	38,8216		16,6,4105	no	coding	ZMIZ1	NM_020338.3		26,13,6220	A1A1,A1R,RR		0.4604,0.6332,0.5193				65,12453				SO:0001651	inframe_deletion	57178				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding	g.chr10:81070787_81070789delCTC	AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2942_2944delCTC	10.37:g.81070796_81070798delCTC	ENSP00000334474:p.Pro986del					ZMIZ1_ENST00000446377.2_Intron	p.AP981del	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)		24	3514_3516	+	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		981			Pro-rich.		Q5JSH9|Q7Z7E6	In_Frame_Del	DEL	ENST00000334512.5	37	c.2942_2944delCTC	CCDS7357.1																																																																																				0.635	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048944.2	NM_020338		7	324						7	324	---	---	---	---
IRX5	10265	broad.mit.edu	37	16	54967130	54967131	+	Frame_Shift_Ins	INS	-	-	C			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:54967130_54967131insC	ENST00000394636.4	+	3	1134_1135	c.797_798insC	c.(796-801)ggccccfs	p.GP266fs	IRX5_ENST00000320990.5_Frame_Shift_Ins_p.GP265fs|CTD-3032H12.2_ENST00000560487.1_lincRNA|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Frame_Shift_Ins_p.GP200fs			P78411	IRX5_HUMAN	iroquois homeobox 5	266					embryonic cranial skeleton morphogenesis (GO:0048701)|gonad development (GO:0008406)|neuron maturation (GO:0042551)|regulation of heart rate (GO:0002027)|regulation of transcription, DNA-templated (GO:0006355)|response to stimulus (GO:0050896)|retinal bipolar neuron differentiation (GO:0060040)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|vitamin D binding (GO:0005499)			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCGCTGCAgggccccccccgca	0.792																																						ENST00000394636.4																			0				kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						c.(796-798)gccfs		iroquois homeobox 5																																				SO:0001589	frameshift_variant	10265				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding	g.chr16:54967130_54967131insC	U90309	CCDS10751.1, CCDS58462.1	16q12.2	2011-06-20	2007-07-13		ENSG00000176842	ENSG00000176842		"""Homeoboxes / TALE class"""	14361	protein-coding gene	gene with protein product		606195					Standard	NM_005853		Approved	IRX-2a	uc002ehv.3	P78411	OTTHUMG00000133201	ENST00000394636.4:c.805dupC	16.37:g.54967138_54967138dupC	ENSP00000378132:p.Gly266fs					IRX5_ENST00000320990.5_Frame_Shift_Ins_p.A265fs|IRX5_ENST00000560154.1_Intron|IRX5_ENST00000558597.1_Frame_Shift_Ins_p.A200fs	p.A266fs			P78411	IRX5_HUMAN			3	1134_1135	+			266					H0YMS7|P78416|Q7Z2E1	Frame_Shift_Ins	INS	ENST00000394636.4	37	c.797_798insC	CCDS10751.1																																																																																				0.792	IRX5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256911.2			2	4						2	4	---	---	---	---
ZFPM1	161882	broad.mit.edu	37	16	88600445	88600445	+	Frame_Shift_Del	DEL	C	C	-			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:88600445delC	ENST00000319555.3	+	10	2401	c.2079delC	c.(2077-2079)agcfs	p.S693fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	693					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCGCTTCAGCCGCCACGAGA	0.761																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(2077-2079)agfs		zinc finger protein, FOG family member 1							5.0	5.0	5.0					16																	88600445		1479	3177	4656	SO:0001589	frameshift_variant	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88600445delC	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.2079delC	16.37:g.88600445delC	ENSP00000326630:p.Ser693fs						p.S693fs	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	10	2401	+			693						Frame_Shift_Del	DEL	ENST00000319555.3	37	c.2079delC	CCDS32502.1																																																																																				0.761	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			2	4						2	4	---	---	---	---
SLC9B1P1	100128190	broad.mit.edu	37	Y	13501672	13501674	+	In_Frame_Del	DEL	AAT	AAT	-	rs373544976		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chrY:13501672_13501674delAAT	ENST00000331172.6	-	4	534_536	c.535_537delATT	c.(535-537)attdel	p.I179del				A6NJY1	SL9P1_HUMAN	solute carrier family 9, subfamily B (NHA1, cation proton antiporter 1), member 1 pseudogene 1	164						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TCTTACCAACAATATTTGATTCA	0.241																																						ENST00000331172.6																			0											c.(535-537)del																																						SO:0001651	inframe_deletion	0							g.chrY:13501672_13501674delAAT			Yq11.21	2013-07-15	2012-03-22	2011-07-26	ENSG00000183704	ENSG00000183704		"""Solute carriers"""	37492	pseudogene	pseudogene			"""Na+/H+ exchanger domain containing 1 pseudogene 1"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 1 pseudogene 1"""	NHEDC1P1			Standard	NG_023008		Approved			A6NJY1		ENST00000331172.6:c.535_537delATT	Y.37:g.13501672_13501674delAAT	ENSP00000331938:p.Ile179del						p.I179del							4	534_536	-									In_Frame_Del	DEL	ENST00000331172.6	37	c.535_537delATT																																																																																					0.241	SLC9B1P1-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NG_023008		5	8						5	8	---	---	---	---
