#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
DEF8	54849	broad.mit.edu	37	16	90020690	90020691	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:90020690_90020691CC>TT	ENST00000268676.7	+	3	302_303	c.213_214CC>TT	c.(211-216)ttCCgg>ttTTgg	p.R72W	DEF8_ENST00000418391.2_Missense_Mutation_p.R11W|DEF8_ENST00000563795.1_Missense_Mutation_p.R11W|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000569453.1_Missense_Mutation_p.R11W|DEF8_ENST00000570182.1_Missense_Mutation_p.R11W|DEF8_ENST00000563594.1_Missense_Mutation_p.R11W	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	72					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)	p.F71F(1)		central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TGGCCCGTTTCCGGCAGGCCCA	0.644																																						uc002fpn.2																			1	Substitution - coding silent(1)	p.F71F(2)	lung(1)	central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(211-216)ttccgg>ttTTgg		Homo sapiens differentially expressed in FDCP 8 homolog (mouse) (DEF8), transcript variant 1, mRNA.																																				SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90020690_90020691CC>TT	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	Exception_encountered	16.37:g.90020690_90020691delinsTT	ENSP00000268676:p.Arg72Trp		Somatic				DEF8_uc021tmu.1_Missense_Mutation_p.R11W|DEF8_uc002fpl.3_Missense_Mutation_p.R11W|DEF8_uc002fpm.3_Missense_Mutation_p.R11W|DEF8_uc002fpo.2_Missense_Mutation_p.R11W|DEF8_uc002fpp.2_Missense_Mutation_p.R11W|DEF8_uc021tmv.1_Missense_Mutation_p.R11W|DEF8_uc010vpq.2_Intron|DEF8_uc010vpr.2_Missense_Mutation_p.R11W	p.R72W	NM_207514	NP_001229746	WXS	Illumina GAIIx	Phase_I	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	2	346_347	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	72					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	DNP	ENST00000268676.7	37	c.213_214CC>TT	CCDS10989.1																																																																																				0.644	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		4	80	0	0	0	1	0	4	80				
CSK	1445	broad.mit.edu	37	15	75091137	75091137	+	Intron	SNP	G	G	A	rs368074266		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr15:75091137G>A	ENST00000220003.9	+	4	858				CSK_ENST00000309470.9_Intron|CSK_ENST00000567571.1_Intron|CSK_ENST00000439220.2_Intron	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase						adherens junction organization (GO:0034332)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cellular response to peptide hormone stimulus (GO:0071375)|epidermal growth factor receptor signaling pathway (GO:0007173)|negative regulation of bone resorption (GO:0045779)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of kinase activity (GO:0033673)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|negative regulation of phagocytosis (GO:0050765)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of Fc receptor mediated stimulatory signaling pathway (GO:0060368)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein C-terminus binding (GO:0008022)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|lung(2)	3						AGGTGGGCCTGAGAGCATGTC	0.617																																						uc010bka.3																			0				central_nervous_system(1)|lung(2)	3						c.(406-408)ctG>ctA		Homo sapiens c-src tyrosine kinase (CSK), transcript variant 1, mRNA.		G	,	0,4394		0,0,2197	58.0	49.0	52.0		,	0.6	0.6	15		52	2,8590	2.2+/-6.3	0,2,4294	no	intron,intron	CSK	NM_001127190.1,NM_004383.2	,	0,2,6491	AA,AG,GG		0.0233,0.0,0.0154	,	,	75091137	2,12984	2197	4296	6493	SO:0001627	intron_variant	1445				T cell costimulation|T cell receptor signaling pathway|blood coagulation|epidermal growth factor receptor signaling pathway	Golgi apparatus|centrosome|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding	g.chr15:75091137G>A		CCDS10269.1	15q24.1	2013-02-14			ENSG00000103653	ENSG00000103653	2.7.10.1	"""SH2 domain containing"""	2444	protein-coding gene	gene with protein product		124095				1377109	Standard	NM_004383		Approved		uc010bka.3	P41240	OTTHUMG00000142814	ENST00000220003.9:c.130-30G>A	15.37:g.75091137G>A			Somatic				CSK_uc010bkb.1_Intron|CSK_uc002ays.2_Intron|CSK_uc010bkc.1_5'Flank	p.L136L			WXS	Illumina GAIIx	Phase_I	P41240	CSK_HUMAN			1	1201	+			0			SH2.		Q2M3N2|Q6FGZ6	Silent	SNP	ENST00000220003.9	37	c.408G>A	CCDS10269.1																																																																																				0.617	CSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286398.2	NM_004383		5	58	0	0	0	1	0	5	58				
SLC12A5	57468	broad.mit.edu	37	20	44670044	44670044	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr20:44670044G>C	ENST00000454036.2	+	8	1049	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	SLC12A5_ENST00000243964.3_Missense_Mutation_p.E311Q	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	334					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGAAGGAAATGAGACGGTGAC	0.542																																						uc010zxl.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80						c.(1000-1002)Gag>Cag		Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						119.0	103.0	108.0					20																	44670044		2203	4300	6503	SO:0001583	missense	57468				potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	g.chr20:44670044G>C	AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.1000G>C	20.37:g.44670044G>C	ENSP00000387694:p.Glu334Gln		Somatic				SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.E311Q	p.E334Q	NM_001134771	NP_001128243	WXS	Illumina GAIIx	Phase_I	Q9H2X9	S12A5_HUMAN			7	1076	+		Myeloproliferative disorder(115;0.0122)	334					A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Missense_Mutation	SNP	ENST00000454036.2	37	c.1000G>C	CCDS46610.1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326577	0.60743	.	.	ENSG00000124140	ENST00000454036;ENST00000243964	D;D	0.84589	-1.87;-1.87	4.75	4.75	0.60458	.	0.275950	0.35040	N	0.003484	T	0.76681	0.4021	N	0.25485	0.75	0.80722	D	1	B;P	0.36753	0.064;0.568	B;B	0.35114	0.041;0.196	T	0.74797	-0.3543	10	0.20519	T	0.43	.	16.9431	0.86223	0.0:0.0:1.0:0.0	.	334;311	Q9H2X9;Q9H2X9-2	S12A5_HUMAN;.	Q	334;311	ENSP00000387694:E334Q;ENSP00000243964:E311Q	ENSP00000243964:E311Q	E	+	1	0	SLC12A5	44103451	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.478000	0.73596	2.457000	0.83068	0.655000	0.94253	GAG		0.542	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000471538.1			6	74	0	0	0	1	0	6	74				
FLT4	2324	broad.mit.edu	37	5	180048729	180048729	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:180048729C>T	ENST00000261937.6	-	13	1911	c.1833G>A	c.(1831-1833)aaG>aaA	p.K611K	FLT4_ENST00000393347.3_Silent_p.K611K|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Silent_p.K611K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	611	Ig-like C2-type 6.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GATGCACGTTCTTGCAGTCGA	0.672																																					Colon(97;1075 1466 27033 27547 35871)	uc003mlz.4																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1831-1833)aaG>aaA		Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	Sorafenib(DB00398)|Sunitinib(DB01268)						58.0	49.0	52.0					5																	180048729		2203	4300	6503	SO:0001819	synonymous_variant	2324				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity	g.chr5:180048729C>T	X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.1833G>A	5.37:g.180048729C>T			Somatic				FLT4_uc003mma.4_Silent_p.K611K|FLT4_uc003mmb.1_Silent_p.K144K|FLT4_uc011dgy.2_Silent_p.K611K	p.K611K	NM_182925	NP_891555	WXS	Illumina GAIIx	Phase_I	P35916	VGFR3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	12	1912	-	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	611			Ig-like C2-type 6.		A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Silent	SNP	ENST00000261937.6	37	c.1833G>A	CCDS4457.1																																																																																				0.672	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253527.4			5	62	0	0	0	1	0	5	62				
GRIN2B	2904	broad.mit.edu	37	12	13906627	13906627	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:13906627C>T	ENST00000609686.1	-	3	843	c.634G>A	c.(634-636)Gga>Aga	p.G212R		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	212					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TTAGAATCTCCATCGTCCAGG	0.473																																						uc001rbt.2																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(634-636)Gga>Aga		Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						141.0	140.0	141.0					12																	13906627		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	N-methyl-D-aspartate selective glutamate receptor complex|cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|glycine binding|zinc ion binding	g.chr12:13906627C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.634G>A	12.37:g.13906627C>T	ENSP00000477455:p.Gly212Arg		Somatic					p.G212R	NM_000834	NP_000825	WXS	Illumina GAIIx	Phase_I	Q13224	NMDE2_HUMAN			2	813	-			212					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.634G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	13.40	2.226798	0.39399	.	.	ENSG00000150086	ENST00000279593	D	0.82803	-1.65	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.82518	0.5054	L	0.50333	1.59	0.58432	D	0.999999	P	0.47762	0.9	P	0.48704	0.587	T	0.82568	-0.0392	10	0.45353	T	0.12	.	12.272	0.54712	0.0:0.9225:0.0:0.0775	.	212	Q13224	NMDE2_HUMAN	R	212	ENSP00000279593:G212R	ENSP00000279593:G212R	G	-	1	0	GRIN2B	13797894	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.519000	0.60517	2.454000	0.82982	0.561000	0.74099	GGA		0.473	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			6	78	0	0	0	1	0	6	78				
ARID2	196528	broad.mit.edu	37	12	46244997	46244997	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:46244997C>T	ENST00000334344.6	+	15	3263	c.3091C>T	c.(3091-3093)Cag>Tag	p.Q1031*	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000422737.1_Nonsense_Mutation_p.Q882*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Nonsense_Mutation_p.Q641*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1031	Gln-rich.				chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGTACAAGTTCAGCAGCCCCA	0.502			"""N, S, F"""		hepatocellular carcinoma																																	uc001ros.1				Rec	yes		12	12q12	196528	"""N, S, F"""	AT rich interactive domain 2			E			hepatocellular carcinoma		0				NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116						c.(3091-3093)Cag>Tag		Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.							195.0	147.0	163.0					12																	46244997		2203	4300	6503	SO:0001587	stop_gained	196528				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr12:46244997C>T		CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3091C>T	12.37:g.46244997C>T	ENSP00000335044:p.Gln1031*		Somatic				ARID2_uc001ror.3_Nonsense_Mutation_p.Q1031*|ARID2_uc009zkg.1_Nonsense_Mutation_p.Q487*|ARID2_uc009zkh.1_Nonsense_Mutation_p.Q658*|ARID2_uc001rou.1_Nonsense_Mutation_p.Q365*	p.Q1031*	NM_152641	NP_689854	WXS	Illumina GAIIx	Phase_I	Q68CP9	ARID2_HUMAN	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)	14	3091	+	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	1031			Gln-rich.		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Nonsense_Mutation	SNP	ENST00000334344.6	37	c.3091C>T	CCDS31783.1	.	.	.	.	.	.	.	.	.	.	C	40	8.435846	0.98810	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	.	.	.	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-3.6292	19.7188	0.96134	0.0:1.0:0.0:0.0	.	.	.	.	X	1031;148;148;882;641	.	ENSP00000335044:Q1031X	Q	+	1	0	ARID2	44531264	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.702000	0.61817	2.671000	0.90904	0.462000	0.41574	CAG		0.502	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318380.2	XM_350875		9	78	0	0	0	1	0	9	78				
EDEM1	9695	broad.mit.edu	37	3	5244672	5244672	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:5244672C>T	ENST00000256497.4	+	5	1013	c.880C>T	c.(880-882)Cct>Tct	p.P294S	EDEM1_ENST00000445686.1_Missense_Mutation_p.P99S	NM_014674.2	NP_055489.1	Q92611	EDEM1_HUMAN	ER degradation enhancer, mannosidase alpha-like 1	294					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	calcium ion binding (GO:0005509)|misfolded protein binding (GO:0051787)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22				Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)		GACAGGAGTTCCTCCTGACAC	0.512																																						uc003bqi.3																			0				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						c.(880-882)Cct>Tct		Homo sapiens ER degradation enhancer, mannosidase alpha-like 1 (EDEM1), mRNA.							73.0	74.0	74.0					3																	5244672		2203	4300	6503	SO:0001583	missense	9695				ER-associated protein catabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	integral to endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding	g.chr3:5244672C>T	D86967	CCDS33686.1	3p26.1	2008-02-05			ENSG00000134109	ENSG00000134109			18967	protein-coding gene	gene with protein product		607673				12610306	Standard	NM_014674		Approved	KIAA0212, EDEM	uc003bqi.3	Q92611	OTTHUMG00000154896	ENST00000256497.4:c.880C>T	3.37:g.5244672C>T	ENSP00000256497:p.Pro294Ser		Somatic				EDEM1_uc011asz.1_Missense_Mutation_p.P72S|EDEM1_uc021wsl.1_Missense_Mutation_p.P99S	p.P294S	NM_014674	NP_055489	WXS	Illumina GAIIx	Phase_I	Q92611	EDEM1_HUMAN		Epithelial(13;0.0588)|OV - Ovarian serous cystadenocarcinoma(96;0.0682)	4	1012	+			294					A8K9C8|B4DXP3	Missense_Mutation	SNP	ENST00000256497.4	37	c.880C>T	CCDS33686.1	.	.	.	.	.	.	.	.	.	.	C	11.99	1.803374	0.31869	.	.	ENSG00000134109	ENST00000419550;ENST00000256497;ENST00000445686	T;T	0.71341	-0.56;-0.56	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.67002	0.2847	L	0.48642	1.525	0.80722	D	1	B;B;B	0.23058	0.079;0.037;0.008	B;B;B	0.25405	0.029;0.06;0.034	T	0.61387	-0.7073	10	0.25751	T	0.34	-20.6571	19.2502	0.93921	0.0:1.0:0.0:0.0	.	99;294;72	B4DXP3;Q92611;B4DPV5	.;EDEM1_HUMAN;.	S	72;294;99	ENSP00000256497:P294S;ENSP00000394099:P99S	ENSP00000256497:P294S	P	+	1	0	EDEM1	5219672	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	7.349000	0.79376	2.532000	0.85374	0.650000	0.86243	CCT		0.512	EDEM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337566.2	NM_014674		7	76	0	0	0	1	0	7	76				
CFAP46	54777	broad.mit.edu	37	10	134647628	134647628	+	Splice_Site	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:134647628C>G	ENST00000368586.5	-	49	6967		c.e49-1		TTC40_ENST00000263170.5_Splice_Site	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						TGTCTGCACTCTGAAAGTCAG	0.502																																						uc021qbc.1																			0				breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						c.e49-1		Homo sapiens tetratricopeptide repeat domain 40 (TTC40), mRNA.							127.0	122.0	123.0					10																	134647628		2203	4300	6503	SO:0001630	splice_region_variant	54777							g.chr10:134647628C>G																												ENST00000368586.5:c.6867-1G>C	10.37:g.134647628C>G			Somatic					p.R2289_splice	NM_001200049	NP_001186978	WXS	Illumina GAIIx	Phase_I	Q8IYW2	CJ092_HUMAN			49	6968	-			450						Splice_Site	SNP	ENST00000368586.5	37	c.6867_splice	CCDS58101.1	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328471	0.24167	.	.	ENSG00000171811	ENST00000368586;ENST00000263170;ENST00000448925	.	.	.	3.98	3.98	0.46160	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3011	0.54874	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	C10orf93	134497618	0.172000	0.23043	0.152000	0.22495	0.006000	0.05464	1.689000	0.37700	2.152000	0.67230	0.563000	0.77884	.		0.502	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000051095.3		Intron	9	68	0	0	0	1	0	9	68				
LINGO2	158038	broad.mit.edu	37	9	27949733	27949733	+	Missense_Mutation	SNP	C	C	T	rs371555423		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:27949733C>T	ENST00000379992.2	-	6	1386	c.937G>A	c.(937-939)Gag>Aag	p.E313K	LINGO2_ENST00000308675.3_Missense_Mutation_p.E313K	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	313						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GAGTGAGGCTCAATGGTGCGA	0.542																																						uc010mjf.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44						c.(937-939)Gag>Aag		Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.		C	LYS/GLU	0,4406		0,0,2203	92.0	95.0	94.0		937	5.9	1.0	9		94	1,8599	1.2+/-3.3	0,1,4299	no	missense	LINGO2	NM_152570.1	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	313/607	27949733	1,13005	2203	4300	6503	SO:0001583	missense	158038					integral to membrane		g.chr9:27949733C>T	AL353746	CCDS6524.1	9p21.2	2013-01-11	2007-02-01	2007-02-01	ENSG00000174482	ENSG00000174482		"""Immunoglobulin superfamily / I-set domain containing"""	21207	protein-coding gene	gene with protein product		609793	"""leucine rich repeat neuronal 6C"""	LRRN6C		14686891	Standard	NM_152570		Approved	LERN3	uc003zqu.2	Q7L985	OTTHUMG00000019721	ENST00000379992.2:c.937G>A	9.37:g.27949733C>T	ENSP00000369328:p.Glu313Lys		Somatic				LINGO2_uc003zqv.1_Missense_Mutation_p.E313K|LINGO2_uc003zqu.1_Missense_Mutation_p.E313K|LINGO2_uc022bfc.1_Missense_Mutation_p.E313K	p.E313K	NM_152570	NP_689783	WXS	Illumina GAIIx	Phase_I	Q7L985	LIGO2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)	6	1471	-	Melanoma(11;0.242)	all_neural(11;2.78e-09)	313					A8K4K7|B2RPM5|Q6ZMD0	Missense_Mutation	SNP	ENST00000379992.2	37	c.937G>A	CCDS6524.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758453	0.69763	0.0	1.16E-4	ENSG00000174482	ENST00000379992;ENST00000308675	T;T	0.58797	0.31;0.31	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.70979	0.3286	L	0.48877	1.53	0.80722	D	1	D	0.71674	0.998	D	0.67382	0.951	T	0.66011	-0.6029	9	.	.	.	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	313	Q7L985	LIGO2_HUMAN	K	313	ENSP00000369328:E313K;ENSP00000310126:E313K	.	E	-	1	0	LINGO2	27939733	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.089000	0.71384	2.824000	0.97209	0.655000	0.94253	GAG		0.542	LINGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051978.2	NM_152570		5	69	0	0	0	1	0	5	69				
PARP14	54625	broad.mit.edu	37	3	122437591	122437591	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:122437591C>G	ENST00000474629.2	+	14	4859	c.4593C>G	c.(4591-4593)atC>atG	p.I1531M	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1531	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CAGATTGTATCAGTGAGTTTA	0.388																																						uc003efq.4																			0				NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50						c.(4591-4593)atC>atG		Homo sapiens poly (ADP-ribose) polymerase family, member 14 (PARP14), mRNA.							186.0	184.0	185.0					3																	122437591		1872	4113	5985	SO:0001583	missense	54625				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity	g.chr3:122437591C>G	AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4593C>G	3.37:g.122437591C>G	ENSP00000418194:p.Ile1531Met		Somatic				PARP14_uc021xdc.1_Missense_Mutation_p.I1395M|PARP14_uc010hrk.3_Non-coding_Transcript|PARP14_uc003efr.3_Missense_Mutation_p.I1248M|PARP14_uc003efs.1_Missense_Mutation_p.I1248M	p.I1531M	NM_017554	NP_060024	WXS	Illumina GAIIx	Phase_I	Q460N5	PAR14_HUMAN		GBM - Glioblastoma multiforme(114;0.0531)	13	4652	+			1531			WWE.		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	ENST00000474629.2	37	c.4593C>G	CCDS46894.1	.	.	.	.	.	.	.	.	.	.	C	11.43	1.637149	0.29157	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.31769	1.48	5.05	-1.38	0.09027	WWE domain (1);	0.792551	0.11408	N	0.567081	T	0.21921	0.0528	L	0.48362	1.52	0.09310	N	1	P;P	0.42735	0.571;0.788	B;B	0.42343	0.121;0.384	T	0.12863	-1.0531	10	0.40728	T	0.16	.	0.9815	0.01437	0.2336:0.366:0.1142:0.2862	.	1531;1531	Q460N5-4;Q460N5	.;PAR14_HUMAN	M	1531;1450;134;527	ENSP00000418194:I1531M	ENSP00000310633:I134M	I	+	3	3	PARP14	123920281	0.000000	0.05858	0.017000	0.16124	0.958000	0.62258	0.077000	0.14738	-0.157000	0.11059	-0.145000	0.13849	ATC		0.388	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356173.2	NM_017554		6	159	0	0	0	1	0	6	159				
CNIH2	254263	broad.mit.edu	37	11	66050518	66050518	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:66050518G>C	ENST00000311445.6	+	4	469	c.211G>C	c.(211-213)Gaa>Caa	p.E71Q	CNIH2_ENST00000528852.1_Missense_Mutation_p.E71Q|CNIH2_ENST00000530519.1_3'UTR|YIF1A_ENST00000526497.1_5'Flank	NM_182553.2	NP_872359.1	Q6PI25	CNIH2_HUMAN	cornichon family AMPA receptor auxiliary protein 2	71					intracellular signal transduction (GO:0035556)|localization within membrane (GO:0051668)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						GGTGGTCCCAGAATACTCCAT	0.597											OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ohi.1																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(211-213)Gaa>Caa		Homo sapiens cornichon homolog 2 (Drosophila) (CNIH2), mRNA.							111.0	110.0	111.0					11																	66050518		2200	4295	6495	SO:0001583	missense	254263				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|dendritic spine|endoplasmic reticulum membrane|postsynaptic density|postsynaptic membrane	protein binding	g.chr11:66050518G>C	BC047953	CCDS8131.1	11q13.2	2013-08-28	2013-08-28		ENSG00000174871	ENSG00000174871			28744	protein-coding gene	gene with protein product		611288	"""cornichon homolog 2 (Drosophila)"""			12477932	Standard	NM_182553		Approved	MGC50896, Cnil, CNIH-2	uc001ohi.2	Q6PI25	OTTHUMG00000166919	ENST00000311445.6:c.211G>C	11.37:g.66050518G>C	ENSP00000310003:p.Glu71Gln		Somatic	OREG0021100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1088	CNIH2_uc009yrb.1_Non-coding_Transcript	p.E71Q	NM_182553	NP_872359	WXS	Illumina GAIIx	Phase_I	Q6PI25	CNIH2_HUMAN			3	443	+			71						Missense_Mutation	SNP	ENST00000311445.6	37	c.211G>C	CCDS8131.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.441507	0.83993	.	.	ENSG00000174871	ENST00000528852;ENST00000311445	T;T	0.56611	0.45;0.45	5.17	5.17	0.71159	.	0.107176	0.64402	D	0.000008	T	0.77903	0.4200	M	0.89658	3.05	0.80722	D	1	D;D	0.61080	0.983;0.989	D;D	0.71184	0.972;0.92	T	0.82894	-0.0231	10	0.87932	D	0	-21.5679	17.8166	0.88637	0.0:0.0:1.0:0.0	.	71;71	Q6PI25;E9PS15	CNIH2_HUMAN;.	Q	71	ENSP00000432177:E71Q;ENSP00000310003:E71Q	ENSP00000310003:E71Q	E	+	1	0	CNIH2	65807094	1.000000	0.71417	0.994000	0.49952	0.989000	0.77384	5.248000	0.65421	2.574000	0.86865	0.563000	0.77884	GAA		0.597	CNIH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000391892.1	NM_182553		10	157	0	0	0	1	0	10	157				
KLF6	1316	broad.mit.edu	37	10	3824138	3824138	+	Missense_Mutation	SNP	T	T	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:3824138T>C	ENST00000497571.1	-	2	631	c.371A>G	c.(370-372)aAg>aGg	p.K124R	KLF6_ENST00000469435.1_Missense_Mutation_p.K124R|KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Missense_Mutation_p.K124R	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	124					B cell differentiation (GO:0030183)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K124R(1)		breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GGAGGTAAACTTGGCCGTGGG	0.532											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001iha.3																			1	Substitution - Missense(1)	p.K124R(2)	lung(1)	breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(370-372)aAg>aGg		Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.							119.0	127.0	124.0					10																	3824138		2203	4300	6503	SO:0001583	missense	1316				B cell differentiation	nucleus	zinc ion binding	g.chr10:3824138T>C	U51869	CCDS7060.1, CCDS53490.1	10p15	2013-01-08	2004-11-29	2004-12-01	ENSG00000067082	ENSG00000067082		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	2235	protein-coding gene	gene with protein product	"""GC-rich binding factor"""	602053	"""core promoter element binding protein"""	BCD1, ST12, COPEB		9503030, 9685731	Standard	NM_001300		Approved	CPBP, GBF, Zf9, PAC1	uc001iha.3	Q99612	OTTHUMG00000017567	ENST00000497571.1:c.371A>G	10.37:g.3824138T>C	ENSP00000419923:p.Lys124Arg		Somatic	OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	614	KLF6_uc010qaj.2_Missense_Mutation_p.K124R|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Missense_Mutation_p.K124R|KLF6_uc001ihb.2_Missense_Mutation_p.K124R	p.K124R	NM_001300	NP_001291	WXS	Illumina GAIIx	Phase_I	Q99612	KLF6_HUMAN		Colorectal(1;0.238)	1	638	-			124					B2RE86|B4DDN0|D3DRR1|F5H3M5|Q5VUT7|Q5VUT8|Q9BT79	Missense_Mutation	SNP	ENST00000497571.1	37	c.371A>G	CCDS7060.1	.	.	.	.	.	.	.	.	.	.	T	11.87	1.768949	0.31320	.	.	ENSG00000067082	ENST00000497571;ENST00000542957;ENST00000469435	T;T;T	0.52754	3.4;0.65;0.88	4.99	4.99	0.66335	.	0.345155	0.35040	N	0.003493	T	0.38799	0.1054	L	0.36672	1.1	0.30195	N	0.799166	P;P;B;P	0.44429	0.454;0.835;0.11;0.514	B;P;B;B	0.44990	0.105;0.466;0.033;0.151	T	0.31724	-0.9933	10	0.20519	T	0.43	.	8.5654	0.33536	0.0:0.0861:0.0:0.9139	.	124;124;124;124	D3GC14;F5H3M5;Q99612-2;Q99612	.;.;.;KLF6_HUMAN	R	124	ENSP00000419923:K124R;ENSP00000445301:K124R;ENSP00000419079:K124R	ENSP00000419079:K124R	K	-	2	0	KLF6	3814138	1.000000	0.71417	0.990000	0.47175	0.735000	0.41995	2.407000	0.44565	1.873000	0.54277	0.459000	0.35465	AAG		0.532	KLF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046495.1			18	152	0	0	0	1	0	18	152				
YBX3	8531	broad.mit.edu	37	12	10862690	10862690	+	Silent	SNP	T	T	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:10862690T>C	ENST00000228251.4	-	6	797	c.597A>G	c.(595-597)gaA>gaG	p.E199E	YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	199					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										TGCCGCTCCCTTCCTCCTCCT	0.537																																						uc001qyt.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19						c.(595-597)gaA>gaG		Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.							17.0	18.0	18.0					12																	10862690		2203	4300	6503	SO:0001819	synonymous_variant	8531				negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr12:10862690T>C	L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.597A>G	12.37:g.10862690T>C			Somatic				CSDA_uc001qyu.3_Intron	p.E199E	NM_003651	NP_003642	WXS	Illumina GAIIx	Phase_I	P16989	DBPA_HUMAN			5	840	-	Glioma(1;0.155)		199					B2RBW6|Q14121|Q969N6|Q96B76	Silent	SNP	ENST00000228251.4	37	c.597A>G	CCDS8630.1																																																																																				0.537	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000399628.1	NM_003651		2	20	0	0	0	1	0	2	20				
CIRH1A	84916	broad.mit.edu	37	16	69201033	69201033	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:69201033C>G	ENST00000314423.7	+	16	2066	c.1889C>G	c.(1888-1890)tCa>tGa	p.S630*	CIRH1A_ENST00000563094.1_3'UTR|CIRH1A_ENST00000352319.4_Nonsense_Mutation_p.S515*			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	630					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ACGAATGAATCAGATGTCATC	0.363																																					Melanoma(69;1156 1278 4951 8715 52012)	uc002ews.4																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16						c.(1888-1890)tCa>tGa		Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.							123.0	125.0	124.0					16																	69201033		2198	4300	6498	SO:0001587	stop_gained	84916					nucleolus	protein binding	g.chr16:69201033C>G	AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.1889C>G	16.37:g.69201033C>G	ENSP00000327179:p.Ser630*		Somatic				CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.4_Nonsense_Mutation_p.S547*|CIRH1A_uc010cfi.3_Nonsense_Mutation_p.S432*	p.S630*	NM_032830	NP_116219	WXS	Illumina GAIIx	Phase_I	Q969X6	CIR1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.125)	15	1985	+			630					Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Nonsense_Mutation	SNP	ENST00000314423.7	37	c.1889C>G	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	C	40	8.494468	0.98836	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	.	.	.	6.03	6.03	0.97812	.	0.241223	0.43260	D	0.000585	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	18.0507	0.89347	0.0:1.0:0.0:0.0	.	.	.	.	X	630;515	.	ENSP00000327179:S630X	S	+	2	0	CIRH1A	67758534	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.949000	0.63596	2.861000	0.98227	0.655000	0.94253	TCA		0.363	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2	NM_032830		4	84	0	0	0	1	0	4	84				
TSR1	55720	broad.mit.edu	37	17	2233812	2233812	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:2233812C>T	ENST00000301364.5	-	10	2846	c.1767G>A	c.(1765-1767)caG>caA	p.Q589Q	SNORD91B_ENST00000391250.1_RNA|SNORD91A_ENST00000390861.1_RNA	NM_018128.4	NP_060598.3	Q2NL82	TSR1_HUMAN	TSR1, 20S rRNA accumulation, homolog (S. cerevisiae)	589					ribosome assembly (GO:0042255)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						AATTTACCTTCTGTTCATGAG	0.433																																						uc002fuj.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(1765-1767)caG>caA		Homo sapiens TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR1), mRNA.							66.0	64.0	65.0					17																	2233812		2203	4300	6503	SO:0001819	synonymous_variant	55720				ribosome assembly	nucleolus	protein binding	g.chr17:2233812C>T	AK026565	CCDS32525.1	17p13.3	2006-04-20	2006-04-20			ENSG00000167721			25542	protein-coding gene	gene with protein product		611214	"""TSR1, 20S rRNA accumulation, homolog (yeast)"""			10718198	Standard	NM_018128		Approved	FLJ10534	uc002fuj.3	Q2NL82		ENST00000301364.5:c.1767G>A	17.37:g.2233812C>T			Somatic				SNORD91B_uc002fuk.1_5'Flank|SNORD91A_uc002ful.1_5'Flank	p.Q589Q	NM_018128	NP_060598	WXS	Illumina GAIIx	Phase_I	Q2NL82	TSR1_HUMAN			9	2724	-			589					Q8WUY5|Q9NVT0|Q9P2E6	Silent	SNP	ENST00000301364.5	37	c.1767G>A	CCDS32525.1																																																																																				0.433	TSR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438180.2	NM_018128		4	75	0	0	0	1	0	4	75				
NLRP14	338323	broad.mit.edu	37	11	7064628	7064628	+	Silent	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:7064628C>G	ENST00000299481.4	+	4	1717	c.1371C>G	c.(1369-1371)gtC>gtG	p.V457V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	457	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AATCTGATGTCTCTAGTTTTA	0.408																																						uc001mfb.1																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(1369-1371)gtC>gtG		Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.							116.0	120.0	119.0					11																	7064628		2201	4296	6497	SO:0001819	synonymous_variant	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064628C>G	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.1371C>G	11.37:g.7064628C>G			Somatic					p.V457V	NM_176822	NP_789792	WXS	Illumina GAIIx	Phase_I	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	3	1694	+			457			NACHT.		Q7RTR6	Silent	SNP	ENST00000299481.4	37	c.1371C>G	CCDS7776.1																																																																																				0.408	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		4	84	0	0	0	1	0	4	84				
EBPL	84650	broad.mit.edu	37	13	50237326	50237326	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:50237326C>T	ENST00000242827.6	-	3	297	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	EBPL_ENST00000378272.5_Intron|EBPL_ENST00000378282.5_Intron|EBPL_ENST00000378270.5_Intron|EBPL_ENST00000378284.2_Missense_Mutation_p.E83K|EBPL_ENST00000495963.2_5'UTR	NM_032565.3	NP_115954.1	Q9BY08	EBPL_HUMAN	emopamil binding protein-like	83					sterol metabolic process (GO:0016125)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholestenol delta-isomerase activity (GO:0047750)			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		TTGCCATATTCTTTCCCTAAA	0.398																																					NSCLC(39;857 1083 36109 42364 51411)	uc001vdg.3																			0				endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(247-249)Gaa>Aaa		Homo sapiens emopamil binding protein-like (EBPL), mRNA.							118.0	105.0	110.0					13																	50237326		2203	4300	6503	SO:0001583	missense	84650				sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity	g.chr13:50237326C>T	AF243433	CCDS9420.1, CCDS61334.1	13q12-q13	2008-02-05			ENSG00000123179	ENSG00000123179			18061	protein-coding gene	gene with protein product							Standard	NM_032565		Approved	EBRP	uc001vdg.3	Q9BY08	OTTHUMG00000016920	ENST00000242827.6:c.247G>A	13.37:g.50237326C>T	ENSP00000242827:p.Glu83Lys		Somatic				EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_Missense_Mutation_p.E83K	p.E83K	NM_032565	NP_115954	WXS	Illumina GAIIx	Phase_I	Q9BY08	EBPL_HUMAN		GBM - Glioblastoma multiforme(99;2.06e-09)	2	310	-		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	83					A6NJ59|Q569H7|Q5JVN2|Q5JVN3|Q5JVN4|Q5JVN5|Q5JVN6	Missense_Mutation	SNP	ENST00000242827.6	37	c.247G>A	CCDS9420.1	.	.	.	.	.	.	.	.	.	.	C	31	5.097700	0.94197	.	.	ENSG00000123179	ENST00000242827	D	0.98381	-4.9	5.9	5.9	0.94986	.	0.106801	0.64402	D	0.000012	D	0.99227	0.9731	M	0.93016	3.37	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	D	0.99320	1.0906	9	.	.	.	-6.597	19.115	0.93334	0.0:1.0:0.0:0.0	.	83	Q9BY08	EBPL_HUMAN	K	83	ENSP00000242827:E83K	.	E	-	1	0	EBPL	49135327	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.769000	0.62300	2.821000	0.97095	0.555000	0.69702	GAA		0.398	EBPL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044932.2	NM_032565		6	81	0	0	0	1	0	6	81				
RAG1	5896	broad.mit.edu	37	11	36597776	36597776	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:36597776C>T	ENST00000299440.5	+	2	3034	c.2922C>T	c.(2920-2922)ttC>ttT	p.F974F		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	974					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|DNA recombination (GO:0006310)|histone monoubiquitination (GO:0010390)|immune response (GO:0006955)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|pre-B cell allelic exclusion (GO:0002331)|protein autoubiquitination (GO:0051865)|regulation of T cell differentiation (GO:0045580)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|V(D)J recombination (GO:0033151)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding (GO:0043565)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTAGGCGCTTCCGGAAAATGA	0.468									Familial Hemophagocytic Lymphohistiocytosis																												Pancreas(43;321 1249 3212 48200)|Esophageal Squamous(38;49 1003 17530 24363)	uc001mwu.4																			0		p.R973S(1)|p.R973C(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65						c.(2920-2922)ttC>ttT		Homo sapiens recombination activating gene 1 (RAG1), mRNA.							94.0	100.0	98.0					11																	36597776		2202	4298	6500	SO:0001819	synonymous_variant	5896	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	T cell differentiation in thymus|V(D)J recombination|histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:36597776C>T	M29474	CCDS7902.1	11p13	2014-09-17				ENSG00000166349		"""RING-type (C3HC4) zinc fingers"""	9831	protein-coding gene	gene with protein product	"""recombination activating protein 1"", ""RING finger protein 74"", ""V(D)J recombination-activating protein 1"""	179615				1612612, 1283330	Standard	NM_000448		Approved	RNF74, MGC43321	uc001mwu.4	P15918		ENST00000299440.5:c.2922C>T	11.37:g.36597776C>T			Somatic				RAG1_uc001mwt.3_Intron|RAG1_uc021qgb.1_Silent_p.F974F	p.F974F	NM_000448	NP_000439	WXS	Illumina GAIIx	Phase_I	P15918	RAG1_HUMAN			1	3046	+	all_lung(20;0.226)	all_hematologic(20;0.107)	974					E9PPC4|Q8IY72|Q8NER2	Silent	SNP	ENST00000299440.5	37	c.2922C>T	CCDS7902.1																																																																																				0.468	RAG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389535.1	NM_000448		8	86	0	0	0	1	0	8	86				
NNT	23530	broad.mit.edu	37	5	43616136	43616136	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:43616136G>A	ENST00000264663.5	+	4	789	c.568G>A	c.(568-570)Gat>Aat	p.D190N	NNT_ENST00000344920.4_Missense_Mutation_p.D190N|NNT_ENST00000512996.2_Missense_Mutation_p.D59N	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	190					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TCAGGGATATGATGCGCTAAG	0.443																																						uc003joe.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(568-570)Gat>Aat		Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	NADH(DB00157)						106.0	108.0	107.0					5																	43616136		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43616136G>A	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.568G>A	5.37:g.43616136G>A	ENSP00000264663:p.Asp190Asn		Somatic				NNT_uc003jof.3_Missense_Mutation_p.D190N	p.D190N	NM_012343	NP_892022	WXS	Illumina GAIIx	Phase_I	Q13423	NNTM_HUMAN			3	823	+	Lung NSC(6;2.58e-06)		190					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.568G>A	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	G	36	5.935334	0.97122	.	.	ENSG00000112992	ENST00000505678;ENST00000512422;ENST00000264663;ENST00000344920;ENST00000512996	T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-1.28	5.66	5.66	0.87406	Alanine dehydrogenase/PNT, N-terminal (1);	0.093608	0.64402	D	0.000001	D	0.93400	0.7895	H	0.96489	3.83	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.94949	0.8098	10	0.87932	D	0	-13.817	19.7973	0.96491	0.0:0.0:1.0:0.0	.	190	Q13423	NNTM_HUMAN	N	190;190;190;190;59	ENSP00000427670:D190N;ENSP00000421886:D190N;ENSP00000264663:D190N;ENSP00000343873:D190N;ENSP00000426343:D59N	ENSP00000264663:D190N	D	+	1	0	NNT	43651893	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.589000	0.98235	2.673000	0.90976	0.650000	0.86243	GAT		0.443	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		9	83	0	0	0	1	0	9	83				
FZR1	51343	broad.mit.edu	37	19	3523039	3523039	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:3523039G>A	ENST00000395095.3	+	1	52	c.52G>A	c.(52-54)Gag>Aag	p.E18K	FZR1_ENST00000313639.8_Missense_Mutation_p.E18K|SNORD38_ENST00000516599.1_RNA|FZR1_ENST00000441788.2_Missense_Mutation_p.E18K	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	18					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCCAGAATGAGAACACGAT	0.687																																						uc010dtk.2																			0				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13						c.(52-54)Gag>Aag		Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.							74.0	74.0	74.0					19																	3523039		2203	4299	6502	SO:0001583	missense	51343				DNA repair|G2/M transition DNA damage checkpoint|S phase of mitotic cell cycle|activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm	protein binding	g.chr19:3523039G>A	AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.52G>A	19.37:g.3523039G>A	ENSP00000378529:p.Glu18Lys		Somatic				FZR1_uc002lxt.2_Missense_Mutation_p.E18K|FZR1_uc002lxv.2_Missense_Mutation_p.E18K	p.E18K	NM_001136198	NP_001129670	WXS	Illumina GAIIx	Phase_I	Q9UM11	FZR_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	0	86	+			18					O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	c.52G>A	CCDS45916.1	.	.	.	.	.	.	.	.	.	.	G	16.11	3.031126	0.54790	.	.	ENSG00000105325	ENST00000441788;ENST00000395095;ENST00000313639	T;T;T	0.07688	3.17;3.17;3.17	4.17	4.17	0.49024	.	0.065676	0.64402	D	0.000012	T	0.06280	0.0162	N	0.24115	0.695	0.31534	N	0.660834	B;B;B	0.24092	0.014;0.097;0.05	B;B;B	0.20767	0.008;0.031;0.019	T	0.10543	-1.0625	10	0.22109	T	0.4	-37.9369	13.3324	0.60495	0.0:0.0:1.0:0.0	.	18;18;18	Q9UM11;Q9UM11-3;Q9UM11-2	FZR_HUMAN;.;.	K	18	ENSP00000410369:E18K;ENSP00000378529:E18K;ENSP00000321800:E18K	ENSP00000321800:E18K	E	+	1	0	FZR1	3474039	1.000000	0.71417	0.998000	0.56505	0.781000	0.44180	8.273000	0.89887	2.169000	0.68431	0.555000	0.69702	GAG		0.687	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263		16	120	0	0	0	1	0	16	120				
TMC5	79838	broad.mit.edu	37	16	19451644	19451644	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:19451644C>G	ENST00000396229.2	+	3	1033	c.284C>G	c.(283-285)tCt>tGt	p.S95C	TMC5_ENST00000542583.2_Missense_Mutation_p.S95C|TMC5_ENST00000381414.4_Missense_Mutation_p.S95C|TMC5_ENST00000541464.1_Missense_Mutation_p.S95C	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	95					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCTGCAGCCTCTAGAACAAGC	0.483																																						uc002dgc.4																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						c.(283-285)tCt>tGt		Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.							150.0	149.0	149.0					16																	19451644		1948	4140	6088	SO:0001583	missense	79838					integral to membrane		g.chr16:19451644C>G	AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.284C>G	16.37:g.19451644C>G	ENSP00000379531:p.Ser95Cys		Somatic				TMC5_uc010vaq.2_Missense_Mutation_p.S95C|TMC5_uc002dgb.4_Missense_Mutation_p.S95C|TMC5_uc010var.2_Missense_Mutation_p.S95C	p.S95C	NM_001105248	NP_001098718	WXS	Illumina GAIIx	Phase_I	Q6UXY8	TMC5_HUMAN			2	1033	+			95					Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	ENST00000396229.2	37	c.284C>G	CCDS45431.1	.	.	.	.	.	.	.	.	.	.	C	13.30	2.195178	0.38806	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583	T;T;T;T	0.72167	-0.48;-0.38;-0.63;-0.63	4.32	3.37	0.38596	.	52.471000	0.00166	N	0.000000	T	0.81837	0.4907	M	0.68952	2.095	0.09310	N	1	D;D;D	0.67145	0.996;0.993;0.996	P;P;P	0.61592	0.891;0.628;0.891	T	0.56709	-0.7934	10	0.66056	D	0.02	-6.0862	7.7437	0.28856	0.0:0.8851:0.0:0.1149	.	95;95;95	F5GYU8;Q6UXY8;Q6UXY8-2	.;TMC5_HUMAN;.	C	95	ENSP00000441227:S95C;ENSP00000370822:S95C;ENSP00000379531:S95C;ENSP00000446274:S95C	ENSP00000370822:S95C	S	+	2	0	TMC5	19359145	0.022000	0.18835	0.004000	0.12327	0.005000	0.04900	1.813000	0.38962	1.022000	0.39626	0.591000	0.81541	TCT		0.483	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435888.1	NM_024780		16	149	0	0	0	1	0	16	149				
ARRDC2	27106	broad.mit.edu	37	19	18119799	18119799	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:18119799G>A	ENST00000222250.4	+	3	504	c.361G>A	c.(361-363)Gag>Aag	p.E121K	ARRDC2_ENST00000608009.1_3'UTR|ARRDC2_ENST00000379656.3_Missense_Mutation_p.E116K	NM_015683.1	NP_056498.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2	121					signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						GACATCCTTCGAGGGCAAACA	0.617																																						uc002nhv.3																			0				endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						c.(361-363)Gag>Aag		Homo sapiens arrestin domain containing 2 (ARRDC2), transcript variant 1, mRNA.							74.0	68.0	70.0					19																	18119799		2203	4300	6503	SO:0001583	missense	27106							g.chr19:18119799G>A		CCDS12370.1, CCDS32956.1	19p13.12	2008-02-05				ENSG00000105643			25225	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015683		Approved	CLONE24945, PP2703	uc002nhv.3	Q8TBH0		ENST00000222250.4:c.361G>A	19.37:g.18119799G>A	ENSP00000222250:p.Glu121Lys		Somatic				ARRDC2_uc002nhu.3_Missense_Mutation_p.E116K	p.E121K	NM_015683	NP_056498	WXS	Illumina GAIIx	Phase_I	Q8TBH0	ARRD2_HUMAN			2	504	+			121					B2RBG9|O95895|Q6ZRV9|Q8WYG6	Missense_Mutation	SNP	ENST00000222250.4	37	c.361G>A	CCDS12370.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758084	0.69648	.	.	ENSG00000105643	ENST00000379656;ENST00000222250	T;T	0.17854	2.94;2.25	4.44	4.44	0.53790	Immunoglobulin E-set (1);Arrestin-like, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.42966	0.1226	M	0.80508	2.5	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.35201	-0.9798	10	0.23302	T	0.38	-14.7463	16.45	0.83977	0.0:0.0:1.0:0.0	.	121;116	Q8TBH0;Q8TBH0-2	ARRD2_HUMAN;.	K	116;121	ENSP00000368977:E116K;ENSP00000222250:E121K	ENSP00000222250:E121K	E	+	1	0	ARRDC2	17980799	1.000000	0.71417	0.663000	0.29738	0.758000	0.43043	9.620000	0.98373	2.200000	0.70718	0.491000	0.48974	GAG		0.617	ARRDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466845.1	NM_015683		6	134	0	0	0	1	0	6	134				
PRKD2	25865	broad.mit.edu	37	19	47177807	47177807	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:47177807C>T	ENST00000291281.4	-	18	2835	c.2610G>A	c.(2608-2610)ggG>ggA	p.G870G	DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000600194.1_Silent_p.G713G|PRKD2_ENST00000595515.1_Silent_p.G880G|DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000433867.1_Silent_p.G870G|PRKD2_ENST00000601806.1_Silent_p.G713G			Q9BZL6	KPCD2_HUMAN	protein kinase D2	870			G -> E (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCTCCGCCAGCCCCTGCATGT	0.632																																						uc010xye.2																			0				central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41						c.(2638-2640)ggG>ggA		Homo sapiens protein kinase D2 (PRKD2), transcript variant 1, mRNA.							44.0	33.0	37.0					19																	47177807		2203	4300	6503	SO:0001819	synonymous_variant	25865				T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity	g.chr19:47177807C>T	AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2610G>A	19.37:g.47177807C>T			Somatic				PRKD2_uc010eks.3_Silent_p.G273G|PRKD2_uc010ekt.3_Silent_p.G137G|PRKD2_uc002pfg.3_Silent_p.G713G|PRKD2_uc002pfh.3_Silent_p.G870G|PRKD2_uc002pfi.3_Silent_p.G870G|PRKD2_uc002pfj.3_Silent_p.G870G|PRKD2_uc002pfk.3_Silent_p.G713G|LOC100506068_uc021uwh.1_Intron	p.G880G	NM_016457	NP_057541	WXS	Illumina GAIIx	Phase_I	Q9BZL6	KPCD2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)	18	2982	-		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)	870					Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	c.2640G>A	CCDS12689.1																																																																																				0.632	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457		5	36	0	0	0	1	0	5	36				
SYT17	51760	broad.mit.edu	37	16	19195026	19195026	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:19195026G>A	ENST00000355377.2	+	5	906	c.508G>A	c.(508-510)Gat>Aat	p.D170N	SYT17_ENST00000562034.1_Missense_Mutation_p.D109N|SYT17_ENST00000568115.1_Missense_Mutation_p.D109N|SYT17_ENST00000562711.2_Missense_Mutation_p.D166N	NM_016524.2	NP_057608.2	Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	170					exocytosis (GO:0006887)	membrane (GO:0016020)|synaptic vesicle (GO:0008021)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						CAACAGCGACGATGTGGACTC	0.567																																						uc002dfw.3																			0				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						c.(508-510)Gat>Aat		Homo sapiens synaptotagmin XVII (SYT17), mRNA.							98.0	78.0	85.0					16																	19195026		2197	4300	6497	SO:0001583	missense	51760					membrane|synaptic vesicle	transporter activity	g.chr16:19195026G>A		CCDS10575.1	16p12.3	2013-01-21			ENSG00000103528	ENSG00000103528		"""Synaptotagmins"""	24119	protein-coding gene	gene with protein product	"""B/K protein"""					10493829	Standard	NM_016524		Approved		uc002dfw.3	Q9BSW7	OTTHUMG00000131461	ENST00000355377.2:c.508G>A	16.37:g.19195026G>A	ENSP00000347538:p.Asp170Asn		Somatic				SYT17_uc002dfx.3_Missense_Mutation_p.D109N|SYT17_uc002dfy.3_Missense_Mutation_p.D166N	p.D170N	NM_016524	NP_057608	WXS	Illumina GAIIx	Phase_I	Q9BSW7	SYT17_HUMAN			4	839	+			170					O43330|Q9NZ18	Missense_Mutation	SNP	ENST00000355377.2	37	c.508G>A	CCDS10575.1	.	.	.	.	.	.	.	.	.	.	g	27.1	4.800763	0.90538	.	.	ENSG00000103528	ENST00000355377	T	0.18174	2.23	5.51	5.51	0.81932	.	0.000000	0.64402	D	0.000002	T	0.33990	0.0882	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77557	0.959;0.99	T	0.03630	-1.1018	10	0.59425	D	0.04	.	19.4121	0.94679	0.0:0.0:1.0:0.0	.	170;109	Q9BSW7;B4DJB2	SYT17_HUMAN;.	N	170	ENSP00000347538:D170N	ENSP00000347538:D170N	D	+	1	0	SYT17	19102527	1.000000	0.71417	0.961000	0.40146	0.397000	0.30659	7.331000	0.79192	2.573000	0.86826	0.556000	0.70494	GAT		0.567	SYT17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254286.2	NM_016524		9	75	0	0	0	1	0	9	75				
ALOX12B	242	broad.mit.edu	37	17	7979610	7979610	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:7979610G>A	ENST00000319144.4	-	11	1675	c.1415C>T	c.(1414-1416)tCg>tTg	p.S472L	ALOX12B_ENST00000577351.1_5'UTR	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	472	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				arachidonic acid metabolic process (GO:0019369)|ceramide biosynthetic process (GO:0046513)|establishment of skin barrier (GO:0061436)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipoxygenase pathway (GO:0019372)|oxidation-reduction process (GO:0055114)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mucus secretion (GO:0070257)|protein lipidation (GO:0006497)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)	arachidonate 12-lipoxygenase activity (GO:0004052)|iron ion binding (GO:0005506)|linoleate 9S-lipoxygenase activity (GO:1990136)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						GGTGAGCTCCGACAGAGCCCG	0.607										Multiple Myeloma(8;0.094)																												uc002gjy.1																			0				endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						c.(1414-1416)tCg>tTg		Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.							71.0	58.0	62.0					17																	7979610		2203	4300	6503	SO:0001583	missense	242				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:7979610G>A	AF038461	CCDS11129.1	17p13.1	2008-03-18			ENSG00000179477	ENSG00000179477	1.13.11.-	"""Arachidonate lipoxygenases"""	430	protein-coding gene	gene with protein product		603741				9618483	Standard	NM_001139		Approved	12R-LOX	uc002gjy.1	O75342	OTTHUMG00000108180	ENST00000319144.4:c.1415C>T	17.37:g.7979610G>A	ENSP00000315167:p.Ser472Leu	Multiple Myeloma(8;0.094)	Somatic					p.S472L	NM_001139	NP_001130	WXS	Illumina GAIIx	Phase_I	O75342	LX12B_HUMAN			10	1676	-			472			Lipoxygenase.			Missense_Mutation	SNP	ENST00000319144.4	37	c.1415C>T	CCDS11129.1	.	.	.	.	.	.	.	.	.	.	G	12.81	2.049482	0.36181	.	.	ENSG00000179477	ENST00000319144	D	0.90444	-2.67	5.2	4.22	0.49857	Lipoxygenase, C-terminal (3);	0.612154	0.16672	N	0.204328	D	0.86793	0.6018	L	0.38175	1.15	0.09310	N	1	P	0.42941	0.794	B	0.43445	0.42	T	0.77900	-0.2415	10	0.39692	T	0.17	-5.5943	11.0477	0.47867	0.0:0.0:0.6651:0.3349	.	472	O75342	LX12B_HUMAN	L	472	ENSP00000315167:S472L	ENSP00000315167:S472L	S	-	2	0	ALOX12B	7920335	0.001000	0.12720	0.341000	0.25589	0.157000	0.22087	0.880000	0.28159	1.171000	0.42768	0.313000	0.20887	TCG		0.607	ALOX12B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226984.3			5	26	0	0	0	1	0	5	26				
CBX1	10951	broad.mit.edu	37	17	46148811	46148811	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:46148811C>G	ENST00000393408.3	-	5	1024	c.544G>C	c.(544-546)Gat>Cat	p.D182H	CBX1_ENST00000225603.4_Missense_Mutation_p.D182H	NM_006807.4	NP_006798.1	P83916	CBX1_HUMAN	chromobox homolog 1	182					negative regulation of transcription, DNA-templated (GO:0045892)	chromatin (GO:0000785)|chromocenter (GO:0010369)|chromosome, centromeric region (GO:0000775)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear heterochromatin (GO:0005720)|nucleoplasm (GO:0005654)|pericentric heterochromatin (GO:0005721)|spindle (GO:0005819)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|histone methyltransferase binding (GO:1990226)			breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						TTCTTGTCATCTTTTTTGTCA	0.493																																					NSCLC(136;694 2497 38792 39034)	uc002ind.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|prostate(1)	4						c.(544-546)Gat>Cat		Homo sapiens chromobox homolog 1 (CBX1), transcript variant 1, mRNA.							118.0	102.0	107.0					17																	46148811		2203	4300	6503	SO:0001583	missense	10951					nuclear heterochromatin|nucleoplasm|spindle	chromatin binding|enzyme binding	g.chr17:46148811C>G	U35451	CCDS11525.1	17q21.32	2010-07-06	2010-06-24		ENSG00000108468	ENSG00000108468			1551	protein-coding gene	gene with protein product	"""HP1 beta homolog (Drosophila )"""	604511	"""chromobox homolog 1 (Drosophila HP1 beta)"""			9169582	Standard	NM_001127228		Approved	HP1Hs-beta, M31, MOD1, CBX, HP1-BETA	uc002ind.4	P83916	OTTHUMG00000150417	ENST00000393408.3:c.544G>C	17.37:g.46148811C>G	ENSP00000377060:p.Asp182His		Somatic				CBX1_uc002ine.4_Missense_Mutation_p.D182H	p.D182H	NM_006807	NP_006798	WXS	Illumina GAIIx	Phase_I	P83916	CBX1_HUMAN			4	1025	-			182					P23197	Missense_Mutation	SNP	ENST00000393408.3	37	c.544G>C	CCDS11525.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.124767	0.77436	.	.	ENSG00000108468	ENST00000225603;ENST00000393408	.	.	.	5.17	5.17	0.71159	.	0.323450	0.27048	U	0.021185	T	0.62768	0.2455	L	0.53249	1.67	0.80722	D	1	P	0.42757	0.789	P	0.46510	0.519	T	0.66180	-0.5988	9	0.62326	D	0.03	-5.6068	17.8648	0.88793	0.0:1.0:0.0:0.0	.	182	P83916	CBX1_HUMAN	H	182	.	ENSP00000225603:D182H	D	-	1	0	CBX1	43503810	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.862000	0.69560	2.601000	0.87937	0.556000	0.70494	GAT		0.493	CBX1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318016.1	NM_006807		3	43	0	0	0	1	0	3	43				
PPP2R5D	5528	broad.mit.edu	37	6	42976211	42976211	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:42976211C>T	ENST00000485511.1	+	9	1203	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	PPP2R5D_ENST00000394110.3_Nonsense_Mutation_p.Q310*|PPP2R5D_ENST00000472118.1_Nonsense_Mutation_p.Q334*|PPP2R5D_ENST00000461010.1_Nonsense_Mutation_p.Q236*	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	342					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			CTACCACCCTCAGGTGAGCTG	0.532																																					Melanoma(63;587 1613 29742 31770)	uc003oth.3																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(1024-1026)Cag>Tag		Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.							85.0	81.0	83.0					6																	42976211		2203	4300	6503	SO:0001587	stop_gained	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42976211C>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1024C>T	6.37:g.42976211C>T	ENSP00000417963:p.Gln342*		Somatic				MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Nonsense_Mutation_p.Q236*|PPP2R5D_uc011dva.2_Nonsense_Mutation_p.Q191*|PPP2R5D_uc003oti.3_Nonsense_Mutation_p.Q191*|PPP2R5D_uc021yzq.1_Nonsense_Mutation_p.Q310*|PPP2R5D_uc003otj.3_Nonsense_Mutation_p.Q191*	p.Q342*	NM_006245	NP_006236	WXS	Illumina GAIIx	Phase_I	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		8	1110	+			342					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Nonsense_Mutation	SNP	ENST00000485511.1	37	c.1024C>T	CCDS4878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.698159|5.698159	0.96802|0.96802	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010|ENST00000470467	.|.	.|.	.|.	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77935	.|0.4205	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74222	.|-0.3735	.|3	0.87932|.	D|.	0|.	-28.0892|-28.0892	20.8794|20.8794	0.99867|0.99867	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	342;310;334;342;236|261	.|.	ENSP00000377669:Q310X|.	Q|S	+|+	1|2	0|0	PPP2R5D|PPP2R5D	43084189|43084189	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	6.085000|6.085000	0.71343|0.71343	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.532	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		5	54	0	0	0	1	0	5	54				
NASP	4678	broad.mit.edu	37	1	46080813	46080813	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:46080813C>T	ENST00000350030.3	+	10	1882	c.1795C>T	c.(1795-1797)Cag>Tag	p.Q599*	NASP_ENST00000402363.3_Nonsense_Mutation_p.Q601*|NASP_ENST00000530073.1_3'UTR|NASP_ENST00000537798.1_Nonsense_Mutation_p.Q535*|NASP_ENST00000351223.3_Nonsense_Mutation_p.Q260*|NASP_ENST00000372052.4_Nonsense_Mutation_p.Q233*	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)	599	Glu-rich (acidic).				blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)	p.Q601*(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					GTACAACTCTCAGTATGATGA	0.512																																						uc001coi.2																			1	Substitution - Nonsense(1)	p.Q601*(1)	lung(1)	breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17						c.(1795-1797)Cag>Tag		Homo sapiens nuclear autoantigenic sperm protein (histone-binding) (NASP), transcript variant 2, mRNA.							103.0	96.0	98.0					1																	46080813		2203	4300	6503	SO:0001587	stop_gained	4678				DNA replication|blastocyst development|cell cycle|cell proliferation|histone exchange|protein transport	cytoplasm|nucleus	Hsp90 protein binding	g.chr1:46080813C>T	M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.1795C>T	1.37:g.46080813C>T	ENSP00000255120:p.Gln599*		Somatic				NASP_uc021omz.1_Nonsense_Mutation_p.Q601*|NASP_uc001coj.2_Nonsense_Mutation_p.Q260*|NASP_uc010olr.2_Nonsense_Mutation_p.Q535*|NASP_uc001col.2_Nonsense_Mutation_p.Q107*	p.Q599*	NM_002482	NP_002473	WXS	Illumina GAIIx	Phase_I	P49321	NASP_HUMAN			9	1954	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)		599			Glu-rich (acidic).		A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Nonsense_Mutation	SNP	ENST00000350030.3	37	c.1795C>T	CCDS524.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.551923|6.551923	0.97658|0.97658	.|.	.|.	ENSG00000132780|ENSG00000132780	ENST00000537798;ENST00000402363;ENST00000341288;ENST00000528238;ENST00000350030;ENST00000372052;ENST00000351223|ENST00000534450	.|T	.|0.63417	.|-0.04	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.099745|.	0.64402|.	D|.	0.000001|.	.|T	.|0.64918	.|0.2642	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.71377	.|-0.4611	.|4	0.87932|.	D|.	0|.	-9.8764|-9.8764	11.3421|11.3421	0.49539|0.49539	0.1405:0.724:0.1355:0.0|0.1405:0.724:0.1355:0.0	.|.	.|.	.|.	.|.	X|L	535;601;499;196;599;233;260|28	.|ENSP00000434240:S28L	ENSP00000345532:Q499X|.	Q|S	+|+	1|2	0|0	NASP|NASP	45853400|45853400	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.344000|4.344000	0.59354|0.59354	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.512	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021533.2	NM_002482		4	85	0	0	0	1	0	4	85				
PSG5	5673	broad.mit.edu	37	19	43680121	43680121	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:43680121G>C	ENST00000366175.3	-	3	740	c.610C>G	c.(610-612)Cta>Gta	p.L204V	PSG5_ENST00000407356.1_Missense_Mutation_p.L204V|PSG5_ENST00000599812.1_Missense_Mutation_p.L297V|PSG5_ENST00000342951.6_Missense_Mutation_p.L204V|PSG5_ENST00000404580.1_Missense_Mutation_p.L204V|PSG5_ENST00000407568.1_Intron			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	204	Ig-like C2-type 1.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				ACACTGGGTAGAATGAGGATC	0.507																																						uc002ovu.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(610-612)Cta>Gta		Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.							107.0	113.0	111.0					19																	43680121		2201	4292	6493	SO:0001583	missense	5673				female pregnancy	extracellular region		g.chr19:43680121G>C		CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.610C>G	19.37:g.43680121G>C	ENSP00000382334:p.Leu204Val		Somatic				PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.L204V	p.L204V	NM_002781	NP_002772	WXS	Illumina GAIIx	Phase_I	Q15238	PSG5_HUMAN			2	741	-		Prostate(69;0.00899)	204			Ig-like C2-type 1.		Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	c.610C>G	CCDS12617.1	.	.	.	.	.	.	.	.	.	.	g	9.166	1.019819	0.19355	.	.	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000342951;ENST00000404580	T;T;T;T	0.03801	3.8;3.8;3.8;3.8	1.08	-2.17	0.07059	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.08670	0.0215	L	0.53617	1.68	0.09310	N	1	P;B	0.49559	0.925;0.085	P;B	0.57371	0.819;0.25	T	0.21415	-1.0246	9	0.38643	T	0.18	.	1.4335	0.02339	0.3181:0.0:0.3382:0.3437	.	297;204	Q15228;Q15238	.;PSG5_HUMAN	V	204	ENSP00000382334:L204V;ENSP00000386008:L204V;ENSP00000344413:L204V;ENSP00000385250:L204V	ENSP00000344413:L204V	L	-	1	2	PSG5	48371961	0.073000	0.21202	0.022000	0.16811	0.032000	0.12392	-1.011000	0.03652	-0.357000	0.08175	0.184000	0.17185	CTA		0.507	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781		13	131	0	0	0	1	0	13	131				
CPEB4	80315	broad.mit.edu	37	5	173337561	173337561	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:173337561G>A	ENST00000265085.5	+	2	2615	c.1161G>A	c.(1159-1161)gaG>gaA	p.E387E	CPEB4_ENST00000334035.5_Silent_p.E387E|CPEB4_ENST00000517880.1_Silent_p.E5E|CPEB4_ENST00000519835.1_Silent_p.E387E|CPEB4_ENST00000522336.1_Silent_p.E5E|CPEB4_ENST00000520867.1_Silent_p.E387E	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	387					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)			ACTCACTGGAGAGTTCACTCA	0.343																																						uc003mcs.4																			0				NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20						c.(1159-1161)gaG>gaA		Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.							113.0	114.0	114.0					5																	173337561		2203	4300	6503	SO:0001819	synonymous_variant	80315						RNA binding|nucleotide binding	g.chr5:173337561G>A	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.1161G>A	5.37:g.173337561G>A			Somatic				CPEB4_uc010jju.2_Silent_p.E387E|CPEB4_uc010jjv.3_Silent_p.E387E|CPEB4_uc011dfg.2_Silent_p.E387E|CPEB4_uc003mcu.4_Silent_p.E5E	p.E387E	NM_030627	NP_085130	WXS	Illumina GAIIx	Phase_I	Q17RY0	CPEB4_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	2567	+	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	387					B7ZLQ7|Q7Z310|Q8N405|Q9C0J0	Silent	SNP	ENST00000265085.5	37	c.1161G>A	CCDS4390.1	.	.	.	.	.	.	.	.	.	.	G	9.257	1.042238	0.19748	.	.	ENSG00000113742	ENST00000519152	.	.	.	6.07	4.3	0.51218	.	.	.	.	.	T	0.60222	0.2252	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.58261	-0.7667	4	.	.	.	-21.4167	9.6798	0.40063	0.2069:0.0:0.7931:0.0	.	.	.	.	K	73	.	.	R	+	2	0	CPEB4	173270167	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.962000	0.56766	1.583000	0.49898	-0.140000	0.14226	AGA		0.343	CPEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252964.2	NM_030627		9	115	0	0	0	1	0	9	115				
ADAMTS20	80070	broad.mit.edu	37	12	43858536	43858536	+	Splice_Site	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:43858536C>T	ENST00000389420.3	-	10	1367		c.e10-1		ADAMTS20_ENST00000553158.1_Splice_Site	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20						extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTAACCAGTACTGTAACAGTG	0.343																																						uc010skx.2																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.e10-1		Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.							61.0	57.0	59.0					12																	43858536		2203	4300	6503	SO:0001630	splice_region_variant	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43858536C>T	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.1368-1G>A	12.37:g.43858536C>T			Somatic					p.D456_splice	NM_025003	NP_079279	WXS	Illumina GAIIx	Phase_I	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	10	1368	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	456	D -> E (in Ref. 2; CAD56159/CAD56160).		Peptidase M12B.		A6NNC9|J3QT00	Splice_Site	SNP	ENST00000389420.3	37	c.1368_splice	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823836	0.32237	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	.	.	.	4.75	4.75	0.60458	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.6296	0.91355	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ADAMTS20	42144803	1.000000	0.71417	0.981000	0.43875	0.030000	0.12068	7.427000	0.80284	2.563000	0.86464	0.591000	0.81541	.		0.343	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003	Intron	4	20	0	0	0	1	0	4	20				
BNIP1	662	broad.mit.edu	37	5	172573902	172573902	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:172573902C>G	ENST00000351486.5	+	2	149	c.118C>G	c.(118-120)Ctt>Gtt	p.L40V	CTC-209H22.3_ENST00000521251.1_RNA|BNIP1_ENST00000352523.6_Missense_Mutation_p.L40V|BNIP1_ENST00000393770.4_Missense_Mutation_p.L40V|BNIP1_ENST00000231668.9_Missense_Mutation_p.L40V	NM_001205.2	NP_001196.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	40					apoptotic process (GO:0006915)|autophagy (GO:0006914)|endoplasmic reticulum membrane fusion (GO:0016320)|endoplasmic reticulum organization (GO:0007029)|execution phase of apoptosis (GO:0097194)|negative regulation of apoptotic process (GO:0043066)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTAAGTGCTCTTACTGAACT	0.408																																						uc003mci.4																			0				breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11						c.(118-120)Ctt>Gtt		Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.							89.0	82.0	85.0					5																	172573902		2203	4300	6503	SO:0001583	missense	662				anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	SNARE complex|integral to endoplasmic reticulum membrane|nuclear envelope	protein binding	g.chr5:172573902C>G	AF083957	CCDS4384.1, CCDS4385.1, CCDS4386.1, CCDS43400.1	5q33-q34	2008-02-05	2002-08-29		ENSG00000113734	ENSG00000113734			1082	protein-coding gene	gene with protein product		603291	"""BCL2/adenovirus E1B 19kD-interacting protein 1"""			7954800, 15272311	Standard	NM_013979		Approved	Nip1, SEC20	uc003mcj.4	Q12981	OTTHUMG00000130521	ENST00000351486.5:c.118C>G	5.37:g.172573902C>G	ENSP00000239215:p.Leu40Val		Somatic				BNIP1_uc003mcj.4_Missense_Mutation_p.L40V|BNIP1_uc003mck.4_Missense_Mutation_p.L40V|BNIP1_uc003mcl.4_Missense_Mutation_p.L40V|BNIP1_uc021yhw.1_5'UTR	p.L40V	NM_013979	NP_053582	WXS	Illumina GAIIx	Phase_I	Q12981	SEC20_HUMAN	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		1	222	+	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	40					D3DQM3|D3DQM4|D3DQM5|D3DQM6|O75622|O75623|O75624|Q6K044|Q96FG4	Missense_Mutation	SNP	ENST00000351486.5	37	c.118C>G	CCDS4384.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.005798	0.74932	.	.	ENSG00000113734	ENST00000231668;ENST00000351486;ENST00000352523;ENST00000393770	T;T;T;T	0.68765	-0.35;0.55;-0.09;0.55	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	D	0.83825	0.5338	M	0.83483	2.645	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.983;1.0	D;D;P;D	0.85130	0.997;0.97;0.656;0.996	D	0.85116	0.0966	10	0.56958	D	0.05	.	19.0021	0.92838	0.0:1.0:0.0:0.0	.	40;40;40;40	Q12981-2;Q12981-3;Q12981;Q12981-1	.;.;SEC20_HUMAN;.	V	40	ENSP00000231668:L40V;ENSP00000239215:L40V;ENSP00000239214:L40V;ENSP00000377365:L40V	ENSP00000231668:L40V	L	+	1	0	BNIP1	172506508	0.997000	0.39634	0.747000	0.31113	0.803000	0.45373	4.066000	0.57520	2.581000	0.87130	0.655000	0.94253	CTT		0.408	BNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252939.1	NM_013979		6	46	0	0	0	1	0	6	46				
EIF3D	8664	broad.mit.edu	37	22	36920659	36920659	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr22:36920659C>T	ENST00000216190.8	-	4	660	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	EIF3D_ENST00000541106.1_Intron|EIF3D_ENST00000405442.1_Missense_Mutation_p.R97Q	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						AAATCTCATTCGATTCCGCTG	0.512																																						uc003apr.3																			0				cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						c.(289-291)cGa>cAa		Homo sapiens eukaryotic translation initiation factor 3, subunit D (EIF3D), mRNA.							145.0	120.0	129.0					22																	36920659		2203	4300	6503	SO:0001583	missense	8664					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr22:36920659C>T	U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.290G>A	22.37:g.36920659C>T	ENSP00000216190:p.Arg97Gln		Somatic				EIF3D_uc011amt.2_Intron|EIF3D_uc011ams.2_5'UTR	p.R97Q	NM_003753	NP_003744	WXS	Illumina GAIIx	Phase_I	O15371	EIF3D_HUMAN			3	455	-			97						Missense_Mutation	SNP	ENST00000216190.8	37	c.290G>A	CCDS13930.1	.	.	.	.	.	.	.	.	.	.	C	37	6.067219	0.97251	.	.	ENSG00000100353	ENST00000216190;ENST00000397177;ENST00000405442;ENST00000455547;ENST00000457241;ENST00000432675;ENST00000402116	.	.	.	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	D	0.85720	0.5762	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83831	0.0252	9	0.32370	T	0.25	0.0231	20.5568	0.99304	0.0:1.0:0.0:0.0	.	97	O15371	EIF3D_HUMAN	Q	97	.	ENSP00000216190:R97Q	R	-	2	0	EIF3D	35250605	1.000000	0.71417	0.997000	0.53966	0.980000	0.70556	7.541000	0.82084	2.861000	0.98227	0.655000	0.94253	CGA		0.512	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319026.1			14	114	0	0	0	1	0	14	114				
SLC12A4	6560	broad.mit.edu	37	16	67979417	67979417	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:67979417C>G	ENST00000316341.3	-	22	3027	c.2887G>C	c.(2887-2889)Gag>Cag	p.E963Q	CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000537830.2_Missense_Mutation_p.E957Q|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000541864.2_Missense_Mutation_p.E932Q|SLC12A4_ENST00000572037.1_Missense_Mutation_p.E915Q|SLC12A4_ENST00000338335.3_3'UTR|SLC12A4_ENST00000422611.2_Missense_Mutation_p.E965Q|SLC12A4_ENST00000576616.1_Missense_Mutation_p.E963Q	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	963					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TACAGGCTCTCCAGCCGCAGG	0.597																																						uc010vkj.1																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2893-2895)Gag>Cag		Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	Bumetanide(DB00887)|Potassium Chloride(DB00761)						65.0	65.0	65.0					16																	67979417		2197	4300	6497	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67979417C>G		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2887G>C	16.37:g.67979417C>G	ENSP00000318557:p.Glu963Gln		Somatic				LCAT_uc002euy.1_5'Flank|SLC12A4_uc010ceu.2_Missense_Mutation_p.E957Q|SLC12A4_uc010vkh.1_Missense_Mutation_p.E932Q|SLC12A4_uc002euz.2_Missense_Mutation_p.E963Q|SLC12A4_uc010vki.1_Missense_Mutation_p.E957Q|SLC12A4_uc002eva.2_Missense_Mutation_p.E963Q	p.E965Q	NM_001145962	NP_001139434	WXS	Illumina GAIIx	Phase_I	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	20	2933	-		Ovarian(137;0.192)	963					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.2893G>C	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	C	11.90	1.775782	0.31411	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25	5.43	5.43	0.79202	K/Cl co-transporter, type 1/type 3 (1);	0.279194	0.35124	N	0.003437	T	0.78929	0.4361	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B	0.31625	0.016;0.001;0.214;0.001;0.035;0.332	B;B;B;B;B;B	0.37480	0.015;0.027;0.239;0.009;0.062;0.251	T	0.75291	-0.3369	10	0.17832	T	0.49	.	19.2529	0.93932	0.0:1.0:0.0:0.0	.	965;957;932;957;963;963	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	Q	965;932;957;963	ENSP00000395983:E965Q;ENSP00000438334:E932Q;ENSP00000445962:E957Q;ENSP00000318557:E963Q	ENSP00000318557:E963Q	E	-	1	0	SLC12A4	66536918	0.006000	0.16342	0.999000	0.59377	0.672000	0.39443	1.443000	0.35057	2.557000	0.86248	0.557000	0.71058	GAG		0.597	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		5	76	0	0	0	1	0	5	76				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu		Somatic					p.V600E	NM_004333	NP_004324	WXS	Illumina GAIIx	Phase_I	P15056	BRAF_HUMAN			14	1860	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		2	50	0	0	0	1	0	2	50				
DDX25	29118	broad.mit.edu	37	11	125780318	125780318	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:125780318G>A	ENST00000263576.6	+	7	722	c.567G>A	c.(565-567)caG>caA	p.Q189Q	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	189	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TGGTTGAGCAGATGGGAAAAT	0.478																																						uc001qcz.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(565-567)caG>caA		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.							237.0	224.0	228.0					11																	125780318		1946	4156	6102	SO:0001819	synonymous_variant	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125780318G>A	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"""DEAD-boxes"""	18698	protein-coding gene	gene with protein product	"""gonadotropin-regulated testicular RNA helicase"""	607663	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"""			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.567G>A	11.37:g.125780318G>A			Somatic				DDX25_uc010sbk.2_Silent_p.Q189Q	p.Q189Q	NM_013264	NP_037396	WXS	Illumina GAIIx	Phase_I	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	6	708	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	189			Helicase ATP-binding.		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	37	c.567G>A	CCDS44766.1																																																																																				0.478	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		10	118	0	0	0	1	0	10	118				
MUC7	4589	broad.mit.edu	37	4	71346814	71346814	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:71346814C>G	ENST00000304887.5	+	3	543	c.353C>G	c.(352-354)tCa>tGa	p.S118*	MUC7_ENST00000413702.1_Nonsense_Mutation_p.S118*|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000456088.1_Nonsense_Mutation_p.S118*	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	118	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACTTTCCCATCAGCTTCCACC	0.428																																						uc011cat.2																			0		p.P117Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(352-354)tCa>tGa		Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.							122.0	115.0	118.0					4																	71346814		2203	4300	6503	SO:0001587	stop_gained	4589					extracellular region	protein binding	g.chr4:71346814C>G	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.353C>G	4.37:g.71346814C>G	ENSP00000302021:p.Ser118*		Somatic				MUC7_uc011cau.2_Nonsense_Mutation_p.S118*|MUC7_uc003hfj.3_Nonsense_Mutation_p.S118*	p.S118*	NM_001145006	NP_689504	WXS	Illumina GAIIx	Phase_I	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		3	641	+			118			Thr-rich.		Q9UCD7|Q9UCD8	Nonsense_Mutation	SNP	ENST00000304887.5	37	c.353C>G	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177292	0.57692	.	.	ENSG00000171195	ENST00000413702;ENST00000505411;ENST00000456088;ENST00000304887	.	.	.	3.44	2.57	0.30868	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-2.6315	10.1996	0.43075	0.2007:0.7993:0.0:0.0	.	.	.	.	X	118	.	ENSP00000302021:S118X	S	+	2	0	MUC7	71381403	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.245000	0.32790	0.991000	0.38814	-0.181000	0.13052	TCA		0.428	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		5	69	0	0	0	1	0	5	69				
PCDHB16	57717	broad.mit.edu	37	5	140567496	140567496	+	IGR	SNP	C	C	T	rs187432634		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr5:140567496C>T	ENST00000361016.2	+	0	4814					NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16						calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCACTGGATCGGGAGGAGCA	0.483																																						uc003liw.1																			0											c.(604-606)Cgg>Tgg		Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.							121.0	129.0	126.0					5																	140567496		2203	4300	6503	SO:0001628	intergenic_variant	56127				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140567496C>T	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325		5.37:g.140567496C>T			Somatic					p.R202W	NM_019119	NP_061992	WXS	Illumina GAIIx	Phase_I	Q9Y5E1	PCDB9_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		0	604	+			202			Cadherin 2.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.604C>T	CCDS4251.1																																																																																				0.483	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		22	168	0	0	0	1	0	22	168				
TIAM2	26230	broad.mit.edu	37	6	155450556	155450556	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:155450556C>T	ENST00000461783.3	+	6	1472	c.199C>T	c.(199-201)Cac>Tac	p.H67Y	TIAM2_ENST00000529824.2_Missense_Mutation_p.H67Y|TIAM2_ENST00000360366.4_Missense_Mutation_p.H67Y|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.H67Y|TIAM2_ENST00000456144.1_Missense_Mutation_p.H67Y			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	67					apoptotic signaling pathway (GO:0097190)|cellular lipid metabolic process (GO:0044255)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGCCTTTCTCACTTTAAGAG	0.547																																						uc003qqb.3																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65						c.(199-201)Cac>Tac		Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.							76.0	70.0	72.0					6																	155450556		2203	4300	6503	SO:0001583	missense	26230				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	Rho guanyl-nucleotide exchange factor activity|receptor signaling protein activity	g.chr6:155450556C>T		CCDS34558.1, CCDS34559.1	6q25	2013-01-10			ENSG00000146426	ENSG00000146426		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11806	protein-coding gene	gene with protein product		604709				10512681	Standard	NM_012454		Approved	STEF	uc003qqe.3	Q8IVF5	OTTHUMG00000015880	ENST00000461783.3:c.199C>T	6.37:g.155450556C>T	ENSP00000437188:p.His67Tyr		Somatic				TIAM2_uc003qqe.3_Missense_Mutation_p.H67Y	p.H67Y	NM_012454	NP_036586	WXS	Illumina GAIIx	Phase_I	Q8IVF5	TIAM2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)	5	1472	+		Ovarian(120;0.196)	67					B2RP56|C9JZV2|Q6NXN9|Q6ZUP9|Q9UFG6|Q9UKV9|Q9UKW0	Missense_Mutation	SNP	ENST00000461783.3	37	c.199C>T	CCDS34558.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.312100	0.81358	.	.	ENSG00000146426	ENST00000461783;ENST00000528928;ENST00000538270;ENST00000528535;ENST00000456144;ENST00000318981;ENST00000535583;ENST00000360366;ENST00000529824	T;T;T;T;T;T	0.05513	3.54;3.43;3.49;3.54;3.55;3.49	5.36	5.36	0.76844	.	0.108147	0.64402	D	0.000004	T	0.10981	0.0268	M	0.68317	2.08	0.80722	D	1	D	0.60575	0.988	P	0.52343	0.696	T	0.00883	-1.1528	10	0.72032	D	0.01	.	17.27	0.87098	0.0:1.0:0.0:0.0	.	67	Q8IVF5	TIAM2_HUMAN	Y	67;313;67;67;67;67;67;67;67	ENSP00000437188:H67Y;ENSP00000434901:H67Y;ENSP00000407746:H67Y;ENSP00000327315:H67Y;ENSP00000353528:H67Y;ENSP00000433348:H67Y	ENSP00000327315:H67Y	H	+	1	0	TIAM2	155492248	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	5.291000	0.65667	2.509000	0.84616	0.561000	0.74099	CAC		0.547	TIAM2-005	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000387980.2	NM_012454		5	32	0	0	0	1	0	5	32				
MACF1	23499	broad.mit.edu	37	1	39926406	39926406	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:39926406G>A	ENST00000372915.3	+	91	21247	c.21160G>A	c.(21160-21162)Gat>Aat	p.D7054N	MACF1_ENST00000567887.1_Missense_Mutation_p.D7192N|MACF1_ENST00000545844.1_Missense_Mutation_p.D5096N|MACF1_ENST00000539005.1_Missense_Mutation_p.D4966N|MACF1_ENST00000361689.2_Missense_Mutation_p.D5096N|MACF1_ENST00000289893.4_Missense_Mutation_p.D5598N|MACF1_ENST00000317713.7_Missense_Mutation_p.D5096N|MACF1_ENST00000564288.1_Missense_Mutation_p.D7155N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7054	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCGGCGCATTGATAAGGACCA	0.428																																						uc021olw.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16792-16794)Gat>Aat		Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.							178.0	175.0	176.0					1																	39926406		2203	4300	6503	SO:0001583	missense	23499				Golgi to plasma membrane protein transport|Wnt receptor signaling pathway|cell cycle arrest|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|wound healing	Golgi apparatus|microtubule|ruffle membrane	ATPase activity|actin filament binding|calcium ion binding|microtubule binding	g.chr1:39926406G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21160G>A	1.37:g.39926406G>A	ENSP00000362006:p.Asp7054Asn		Somatic				MACF1_uc021ols.1_Missense_Mutation_p.D5093N|MACF1_uc021olt.1_Missense_Mutation_p.D5096N|MACF1_uc001cde.2_5'Flank	p.D5598N	NM_012090	NP_036222	WXS	Illumina GAIIx	Phase_I	Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		56	16792	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	7054					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16792G>A		.	.	.	.	.	.	.	.	.	.	G	36	5.849041	0.97023	.	.	ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893	D;D;D;D;D;D	0.95821	-3.82;-3.82;-3.82;-3.82;-3.82;-3.82	5.81	5.81	0.92471	EF-hand-like domain (1);	0.000000	0.64402	D	0.000006	D	0.98254	0.9422	M	0.90425	3.115	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.97110	0.996;1.0	D	0.98448	1.0590	9	.	.	.	.	20.0694	0.97716	0.0:0.0:1.0:0.0	.	7054;5096	Q9UPN3;F8W8Q1	MACF1_HUMAN;.	N	5096;7054;5096;5096;4966;5598	ENSP00000439537:D5096N;ENSP00000362006:D7054N;ENSP00000354573:D5096N;ENSP00000313438:D5096N;ENSP00000444364:D4966N;ENSP00000289893:D5598N	.	D	+	1	0	MACF1	39698993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.761000	0.94854	0.585000	0.79938	GAT		0.428	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		10	150	0	0	0	1	0	10	150				
DDX25	29118	broad.mit.edu	37	11	125780286	125780286	+	Silent	SNP	T	T	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:125780286T>C	ENST00000263576.6	+	7	690	c.535T>C	c.(535-537)Ttg>Ctg	p.L179L	DDX25_ENST00000525943.1_3'UTR|RP11-680F20.9_ENST00000533033.2_RNA	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	179	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TACTTATGAATTGGCTCTGCA	0.448																																						uc001qcz.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10						c.(535-537)Ttg>Ctg		Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.							201.0	189.0	193.0					11																	125780286		1933	4152	6085	SO:0001819	synonymous_variant	29118				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding	g.chr11:125780286T>C	AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"""DEAD-boxes"""	18698	protein-coding gene	gene with protein product	"""gonadotropin-regulated testicular RNA helicase"""	607663	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"""			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.535T>C	11.37:g.125780286T>C			Somatic				DDX25_uc010sbk.2_Silent_p.L179L	p.L179L	NM_013264	NP_037396	WXS	Illumina GAIIx	Phase_I	Q9UHL0	DDX25_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)	6	676	+	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	179			Helicase ATP-binding.		B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Silent	SNP	ENST00000263576.6	37	c.535T>C	CCDS44766.1	.	.	.	.	.	.	.	.	.	.	T	10.48	1.361799	0.24684	.	.	ENSG00000109832	ENST00000530129	.	.	.	5.82	-7.42	0.01388	.	.	.	.	.	T	0.72439	0.3460	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.74636	-0.3599	4	.	.	.	-8.8261	21.2368	0.99949	0.0:0.7771:0.0:0.2229	.	.	.	.	T	190	.	.	I	+	2	0	DDX25	125285496	0.976000	0.34144	0.490000	0.27465	0.946000	0.59487	0.238000	0.18004	-1.383000	0.02106	0.533000	0.62120	ATT		0.448	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386736.3	NM_013264		10	103	0	0	0	1	0	10	103				
KCNQ5	56479	broad.mit.edu	37	6	73834209	73834209	+	Splice_Site	SNP	G	G	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:73834209G>T	ENST00000370398.1	+	9	1330	c.1221G>T	c.(1219-1221)aaG>aaT	p.K407N	KCNQ5_ENST00000403813.2_Intron|KCNQ5_ENST00000370392.1_Splice_Site_p.K407N|KCNQ5_ENST00000355194.4_Splice_Site_p.K407N|KCNQ5_ENST00000414165.2_Splice_Site_p.K407N|KCNQ5_ENST00000342056.2_Splice_Site_p.K407N|KCNQ5_ENST00000355635.3_Intron|KCNQ5_ENST00000402622.2_Intron	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	407					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	GCACCTGAAGGAAAGAACAAG	0.383																																					GBM(142;1375 1859 14391 23261 44706)	uc011dyh.2																			0				breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						c.e9-1		Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.							175.0	159.0	165.0					6																	73834209		2203	4300	6503	SO:0001630	splice_region_variant	56479				protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	g.chr6:73834209G>T	AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.1221-1G>T	6.37:g.73834209G>T			Somatic				KCNQ5_uc003pgj.4_Splice_Site_p.K407_splice|KCNQ5_uc011dyi.2_Intron|KCNQ5_uc010kat.3_Intron|KCNQ5_uc003pgk.3_Splice_Site_p.K407_splice|KCNQ5_uc011dyj.2_Splice_Site_p.K407_splice|KCNQ5_uc011dyk.2_Intron	p.K407_splice	NM_001160133	NP_001153605	WXS	Illumina GAIIx	Phase_I	Q9NR82	KCNQ5_HUMAN		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	9	1568	+		all_epithelial(107;0.116)|Lung NSC(302;0.219)	407					A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Splice_Site	SNP	ENST00000370398.1	37	c.1221_splice	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	14.27	2.485724	0.44147	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000370392;ENST00000414165	D;D;D;D;D	0.99382	-5.75;-5.72;-5.72;-5.65;-5.8	5.44	5.44	0.79542	.	3.917520	0.00447	N	0.000083	D	0.97711	0.9249	L	0.58101	1.795	0.41956	D	0.990687	B;B;B;B	0.24768	0.111;0.0;0.0;0.007	B;B;B;B	0.24541	0.054;0.002;0.001;0.011	T	0.82460	-0.0446	9	.	.	.	.	13.3755	0.60736	0.0822:0.0:0.9178:0.0	.	407;407;407;407	F5GZV0;A6PVT6;Q9NR82;Q9NR82-4	.;.;KCNQ5_HUMAN;.	N	407	ENSP00000345055:K407N;ENSP00000347326:K407N;ENSP00000359425:K407N;ENSP00000359419:K407N;ENSP00000409861:K407N	.	K	+	3	2	KCNQ5	73890930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.492000	0.66893	2.709000	0.92574	0.655000	0.94253	AAG		0.383	KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	Missense_Mutation	4	50	0	0	0	1	0	4	50				
FBXO11	80204	broad.mit.edu	37	2	48040983	48040983	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:48040983C>G	ENST00000403359.3	-	17	2102	c.2030G>C	c.(2029-2031)aGa>aCa	p.R677T	FBXO11_ENST00000316377.4_Missense_Mutation_p.R593T|FBXO11_ENST00000434523.2_Missense_Mutation_p.R101T|FBXO11_ENST00000402508.1_Missense_Mutation_p.R593T	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	677					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTTGTTGCGTCTAATTTTGGG	0.348			"""Mis, F, D"""		DLBCL																																	uc002rwe.3				Rec	yes		2	2p16.3	80204	"""Mis, F, D"""	F-box protein 11			L			DLBCL		2	Whole gene deletion(2)	p.0?(2)	haematopoietic_and_lymphoid_tissue(2)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26						c.(2029-2031)aGa>aCa		Homo sapiens F-box protein 11 (FBXO11), transcript variant 4, mRNA.							126.0	124.0	125.0					2																	48040983		2202	4300	6502	SO:0001583	missense	80204				ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr2:48040983C>G	AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2030G>C	2.37:g.48040983C>G	ENSP00000384823:p.Arg677Thr		Somatic				FBXO11_uc010fbl.3_Missense_Mutation_p.R593T|FBXO11_uc010fbk.3_Missense_Mutation_p.R101T|FBXO11_uc021vhe.1_Missense_Mutation_p.R477T	p.R677T	NM_001190274	NP_001177203	WXS	Illumina GAIIx	Phase_I	Q86XK2	FBX11_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		16	2103	-		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	677					A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	ENST00000403359.3	37	c.2030G>C	CCDS54357.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.7|20.7	4.041062|4.041062	0.75732|0.75732	.|.	.|.	ENSG00000138081|ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523|ENST00000493962	T;T;T;T|.	0.79653|.	-1.29;-1.29;-1.29;-1.29|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Pectin lyase fold/virulence factor (2);Carbohydrate-binding/sugar hydrolysis domain (1);F-box domain, Skp2-like (1);Pectin lyase fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.67258|.	0.2874|.	L|L	0.39692|0.39692	1.235|1.235	0.80722|0.80722	D|D	1|1	B;P|.	0.34699|.	0.213;0.464|.	B;P|.	0.45406|.	0.262;0.479|.	T|.	0.61729|.	-0.7003|.	10|.	0.15066|.	T|.	0.55|.	-0.4741|-0.4741	19.5994|19.5994	0.95554|0.95554	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	101;677|.	B3KUR1;Q86XK2|.	.;FBX11_HUMAN|.	T|Y	593;677;593;101|468	ENSP00000385398:R593T;ENSP00000384823:R677T;ENSP00000323822:R593T;ENSP00000397359:R101T|.	ENSP00000323822:R593T|.	R|X	-|-	2|3	0|2	FBXO11|FBXO11	47894487|47894487	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.776000|7.776000	0.85560|0.85560	2.699000|2.699000	0.92147|0.92147	0.655000|0.655000	0.94253|0.94253	AGA|TAG		0.348	FBXO11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251181.3	NM_012167, NM_018693, NM_025133		6	34	0	0	0	1	0	6	34				
PLIN4	729359	broad.mit.edu	37	19	4501226	4501226	+	IGR	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:4501226G>A	ENST00000301286.3	-	0	6341				HDGFRP2_ENST00000301284.4_Missense_Mutation_p.E610K|HDGFRP2_ENST00000586684.1_Missense_Mutation_p.E610K	NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4							cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGTGAATGGCGAGGCCACATC	0.637																																						uc002mao.3																			0											c.(1828-1830)Gag>Aag		Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.							50.0	62.0	58.0					19																	4501226		2046	4190	6236	SO:0001628	intergenic_variant	84717				transcription, DNA-dependent	nucleus	DNA binding|protein binding	g.chr19:4501226G>A	AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571		19.37:g.4501226G>A			Somatic				HDGFRP2_uc002map.3_Missense_Mutation_p.E610K|HDGFRP2_uc002maq.1_Missense_Mutation_p.E75K|HDGFRP2_uc010dua.3_Intron	p.E610K	NM_001001520	NP_001001520	WXS	Illumina GAIIx	Phase_I	Q7Z4V5	HDGR2_HUMAN			14	1921	+			605					A6NEI2	Missense_Mutation	SNP	ENST00000301286.3	37	c.1828G>A	CCDS45927.1	.	.	.	.	.	.	.	.	.	.	G	11.92	1.781861	0.31502	.	.	ENSG00000167674	ENST00000301284	T	0.49432	0.78	3.96	3.96	0.45880	.	0.070762	0.53938	D	0.000042	T	0.37237	0.0996	L	0.29908	0.895	0.37826	D	0.928557	D;P	0.60160	0.987;0.824	B;B	0.43867	0.434;0.081	T	0.38351	-0.9665	10	0.34782	T	0.22	.	13.5325	0.61629	0.0:0.0:1.0:0.0	.	605;610	Q7Z4V5-2;C9JEE1	.;.	K	610	ENSP00000301284:E610K	ENSP00000301284:E610K	E	+	1	0	AC011498.1	4452226	0.995000	0.38212	0.965000	0.40720	0.037000	0.13140	2.589000	0.46145	2.035000	0.60131	0.462000	0.41574	GAG		0.637	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395095.1	XM_170901		9	80	0	0	0	1	0	9	80				
NPRL2	10641	broad.mit.edu	37	3	50386439	50386439	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:50386439C>T	ENST00000232501.3	-	5	889	c.451G>A	c.(451-453)Gag>Aag	p.E151K	CYB561D2_ENST00000424512.1_5'Flank|CYB561D2_ENST00000418577.1_5'Flank|XXcos-LUCA11.5_ENST00000606589.1_5'Flank|CYB561D2_ENST00000425346.1_5'Flank|NPRL2_ENST00000493465.1_5'Flank|ZMYND10_ENST00000231749.3_5'Flank|CYB561D2_ENST00000232508.5_5'Flank	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	151					negative regulation of kinase activity (GO:0033673)|protein phosphorylation (GO:0006468)		GTPase activator activity (GO:0005096)|protein kinase activity (GO:0004672)			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						GTGTTGGACTCATCTGCAGGG	0.557																																						uc003daj.1																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(451-453)Gag>Aag		Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.							74.0	77.0	76.0					3																	50386439		2203	4300	6503	SO:0001583	missense	10641				negative regulation of kinase activity		protein binding|protein kinase activity	g.chr3:50386439C>T	AF040708	CCDS2826.1	3p21.3	2010-03-30	2010-03-30	2010-03-30	ENSG00000114388	ENSG00000114388			24969	protein-coding gene	gene with protein product		607072	"""tumor suppressor candidate 4"""	TUSC4		11085536	Standard	NM_006545		Approved	NPR2L, NPR2	uc003daj.1	Q8WTW4	OTTHUMG00000156864	ENST00000232501.3:c.451G>A	3.37:g.50386439C>T	ENSP00000232501:p.Glu151Lys		Somatic				CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	p.E151K	NM_006545	NP_006536	WXS	Illumina GAIIx	Phase_I	Q8WTW4	NPRL2_HUMAN			4	854	-			151					A8K831|Q6FGS2|Q9Y249|Q9Y497	Missense_Mutation	SNP	ENST00000232501.3	37	c.451G>A	CCDS2826.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.572115	0.86542	.	.	ENSG00000114388	ENST00000232501	.	.	.	5.58	5.58	0.84498	.	0.087462	0.85682	D	0.000000	T	0.67268	0.2875	M	0.62088	1.915	0.80722	D	1	B	0.23990	0.095	B	0.31101	0.124	T	0.62286	-0.6886	9	0.16420	T	0.52	-3.596	19.5689	0.95404	0.0:1.0:0.0:0.0	.	151	Q8WTW4	NPRL2_HUMAN	K	151	.	ENSP00000232501:E151K	E	-	1	0	NPRL2	50361443	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.748000	0.85085	2.626000	0.88956	0.655000	0.94253	GAG		0.557	NPRL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346299.1	NM_006545		9	101	0	0	0	1	0	9	101				
GIPC3	126326	broad.mit.edu	37	19	3586871	3586871	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:3586871C>T	ENST00000322315.5	+	3	516	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	157	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.									breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGACAGCATCGAAGCCATCA	0.627											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002lyd.4																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10						c.(469-471)atC>atT		Homo sapiens GIPC PDZ domain containing family, member 3 (GIPC3), mRNA.							51.0	48.0	49.0					19																	3586871		2202	4300	6502	SO:0001819	synonymous_variant	126326							g.chr19:3586871C>T	AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.471C>T	19.37:g.3586871C>T			Somatic	OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	612		p.I157I	NM_133261	NP_573568	WXS	Illumina GAIIx	Phase_I	Q8TF64	GIPC3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)	2	498	+			157			PDZ.		O75227	Silent	SNP	ENST00000322315.5	37	c.471C>T	CCDS32871.1																																																																																				0.627	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394577.1	NM_133261		4	42	0	0	0	1	0	4	42				
FGD2	221472	broad.mit.edu	37	6	36995226	36995226	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:36995226G>C	ENST00000274963.8	+	15	1798	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	543					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGCCACGCCTGACCAGAGCCT	0.617																																						uc010jwp.1																			0		p.P542L(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						c.(1627-1629)Gac>Cac		Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.							107.0	109.0	108.0					6																	36995226		2203	4300	6503	SO:0001583	missense	221472				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|early endosome membrane|lamellipodium|nucleus|ruffle membrane	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding	g.chr6:36995226G>C	AK097230	CCDS4829.1	6p21.2	2013-01-10	2004-08-24		ENSG00000146192	ENSG00000146192		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3664	protein-coding gene	gene with protein product		605091	"""FGD1 family, member 2"""			10458911	Standard	NM_173558		Approved	ZFYVE4	uc010jwp.1	Q7Z6J4	OTTHUMG00000014616	ENST00000274963.8:c.1627G>C	6.37:g.36995226G>C	ENSP00000274963:p.Asp543His		Somatic				FGD2_uc003ong.2_Missense_Mutation_p.D265H|FGD2_uc011dtv.1_Missense_Mutation_p.D171H|FGD2_uc003onj.1_Missense_Mutation_p.D120H	p.D543H	NM_173558	NP_775829	WXS	Illumina GAIIx	Phase_I	Q7Z6J4	FGD2_HUMAN			14	1798	+			543					Q5T8I1|Q6P6A8|Q6ZNL5|Q8IZ32|Q8N868|Q9H7M2	Missense_Mutation	SNP	ENST00000274963.8	37	c.1627G>C	CCDS4829.1	.	.	.	.	.	.	.	.	.	.	G	9.205	1.029431	0.19512	.	.	ENSG00000146192	ENST00000274963;ENST00000394459	T	0.59224	0.28	5.71	4.83	0.62350	.	0.655739	0.13409	N	0.389981	T	0.40347	0.1113	N	0.22421	0.69	0.09310	N	1	P;P	0.44478	0.641;0.836	B;P	0.52217	0.143;0.693	T	0.36625	-0.9740	10	0.59425	D	0.04	-9.4731	10.988	0.47532	0.0715:0.1318:0.7967:0.0	.	543;120	Q7Z6J4;Q7Z6J4-2	FGD2_HUMAN;.	H	543;171	ENSP00000274963:D543H	ENSP00000274963:D543H	D	+	1	0	FGD2	37103204	1.000000	0.71417	0.007000	0.13788	0.113000	0.19764	6.437000	0.73421	1.392000	0.46585	0.655000	0.94253	GAC		0.617	FGD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040398.2	NM_173558		18	177	0	0	0	1	0	18	177				
ZNF177	7730	broad.mit.edu	37	19	9489680	9489680	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:9489680G>C	ENST00000589262.1	+	3	142	c.76G>C	c.(76-78)Gag>Cag	p.E26Q	ZNF177_ENST00000590616.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000541595.2_Missense_Mutation_p.E26Q|ZNF177_ENST00000343499.4_Missense_Mutation_p.E26Q|ZNF177_ENST00000605471.1_3'UTR|ZNF177_ENST00000446085.4_Missense_Mutation_p.E26Q|ZNF177_ENST00000602738.1_Missense_Mutation_p.E26Q|ZNF177_ENST00000434737.2_Missense_Mutation_p.E26Q|ZNF177_ENST00000602856.1_Missense_Mutation_p.E26Q	NM_001172651.1	NP_001166122.1	Q13360	ZN177_HUMAN	zinc finger protein 177	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						CTTTTCCCAGGAGGAGTGGGC	0.458																																						uc021uon.1																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						c.(76-78)Gag>Cag		Homo sapiens zinc finger protein 177 (ZNF177), transcript variant 1, mRNA.							118.0	108.0	111.0					19																	9489680		2203	4300	6503	SO:0001583	missense	7730				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9489680G>C	U37263, BC012012	CCDS12212.1, CCDS54214.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	12966	protein-coding gene	gene with protein product		601276					Standard	NM_003451		Approved		uc021uon.1	Q13360		ENST00000589262.1:c.76G>C	19.37:g.9489680G>C	ENSP00000468531:p.Glu26Gln		Somatic				ZNF177_uc002mli.3_Missense_Mutation_p.E26Q|ZNF177_uc002mlj.3_Missense_Mutation_p.E26Q|ZNF177_uc002mlk.3_Missense_Mutation_p.E26Q	p.E26Q	NM_001172651	NP_001166122	WXS	Illumina GAIIx	Phase_I	Q13360	ZN177_HUMAN			2	237	+			26			KRAB.		B4DY57|E9PDG0|I3L0I4|Q96ER2	Missense_Mutation	SNP	ENST00000589262.1	37	c.76G>C	CCDS54214.1	.	.	.	.	.	.	.	.	.	.	G	16.36	3.102757	0.56183	.	.	ENSG00000188629	ENST00000541595;ENST00000446085;ENST00000343499;ENST00000434737	T;T;T;T	0.03524	3.9;3.9;3.9;3.9	2.56	2.56	0.30785	Krueppel-associated box (4);	.	.	.	.	T	0.21921	0.0528	M	0.93197	3.39	0.24460	N	0.994443	D	0.76494	0.999	D	0.83275	0.996	T	0.36138	-0.9760	8	0.87932	D	0	.	8.7823	0.34798	0.0:0.0:1.0:0.0	.	26	Q13360	ZN177_HUMAN	Q	26	ENSP00000445323:E26Q;ENSP00000413568:E26Q;ENSP00000341497:E26Q;ENSP00000415070:E26Q	ENSP00000341497:E26Q	E	+	1	0	ZNF177	9350680	0.980000	0.34600	0.987000	0.45799	0.997000	0.91878	0.999000	0.29757	1.737000	0.51674	0.467000	0.42956	GAG		0.458	ZNF177-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449028.1	NM_003451		5	53	0	0	0	1	0	5	53				
UBR1	197131	broad.mit.edu	37	15	43348594	43348594	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr15:43348594C>G	ENST00000290650.4	-	11	1307	c.1229G>C	c.(1228-1230)aGa>aCa	p.R410T	UBR1_ENST00000382177.2_Missense_Mutation_p.R410T	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	410					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGAGATACTTCTGTCATGATC	0.284																																						uc001zqq.3																			0				NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58						c.(1228-1230)aGa>aCa		Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.							116.0	120.0	119.0					15																	43348594		2203	4298	6501	SO:0001583	missense	197131				cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding	g.chr15:43348594C>G		CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1229G>C	15.37:g.43348594C>G	ENSP00000290650:p.Arg410Thr		Somatic				UBR1_uc010udk.1_Missense_Mutation_p.R410T	p.R410T	NM_174916	NP_777576	WXS	Illumina GAIIx	Phase_I	Q8IWV7	UBR1_HUMAN		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)	10	1295	-		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)	410					O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	ENST00000290650.4	37	c.1229G>C	CCDS10091.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459484	0.84317	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	T;T	0.70749	0.32;-0.51	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.74997	0.3790	M	0.66939	2.045	0.58432	D	0.999993	P;D	0.59767	0.749;0.986	B;P	0.53266	0.412;0.722	T	0.71424	-0.4597	10	0.22706	T	0.39	-16.4846	13.1215	0.59329	0.0:0.9237:0.0:0.0763	.	410;410	B4DYL2;Q8IWV7	.;UBR1_HUMAN	T	410	ENSP00000290650:R410T;ENSP00000371612:R410T	ENSP00000290650:R410T	R	-	2	0	UBR1	41135886	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.466000	0.60148	2.675000	0.91044	0.650000	0.86243	AGA		0.284	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253202.1	NM_174916		5	88	0	0	0	1	0	5	88				
TCEB3	6924	broad.mit.edu	37	1	24078449	24078449	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:24078449C>T	ENST00000418390.2	+	4	1703	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	TCEB3_ENST00000609199.1_Nonsense_Mutation_p.Q452*	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	478					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGACTCAGTTCAGAAATTACC	0.433											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001bho.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1432-1434)Cag>Tag		Homo sapiens transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A) (TCEB3), mRNA.							54.0	64.0	61.0					1																	24078449		2190	4292	6482	SO:0001587	stop_gained	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24078449C>T	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1432C>T	1.37:g.24078449C>T	ENSP00000395574:p.Gln478*		Somatic	OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	768		p.Q478*	NM_003198	NP_003189	WXS	Illumina GAIIx	Phase_I	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	3	1492	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	478					B2R7Q8|Q8IXH1	Nonsense_Mutation	SNP	ENST00000418390.2	37	c.1432C>T	CCDS239.2	.	.	.	.	.	.	.	.	.	.	C	39	7.353270	0.98231	.	.	ENSG00000011007	ENST00000418390	.	.	.	5.96	5.96	0.96718	.	0.414131	0.23832	N	0.044122	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-7.5038	15.1722	0.72884	0.1409:0.8591:0.0:0.0	.	.	.	.	X	478	.	ENSP00000395574:Q478X	Q	+	1	0	TCEB3	23951036	0.999000	0.42202	0.943000	0.38184	0.716000	0.41182	4.119000	0.57891	2.832000	0.97577	0.655000	0.94253	CAG		0.433	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		4	72	0	0	0	1	0	4	72				
TNF	7124	broad.mit.edu	37	6	31543617	31543617	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr6:31543617C>T	ENST00000449264.2	+	1	274	c.99C>T	c.(97-99)ctC>ctT	p.L33L		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	33					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of MAPK activity (GO:0000187)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nicotine (GO:0071316)|cellular response to organic cyclic compound (GO:0071407)|chronic inflammatory response to antigenic stimulus (GO:0002439)|defense response to Gram-positive bacterium (GO:0050830)|embryonic digestive tract development (GO:0048566)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|glucose metabolic process (GO:0006006)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|JNK cascade (GO:0007254)|leukocyte tethering or rolling (GO:0050901)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|necroptotic signaling pathway (GO:0097527)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of branching involved in lung morphogenesis (GO:0061048)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of glucose import (GO:0046325)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of L-glutamate transport (GO:0002037)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid storage (GO:0010888)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|organ morphogenesis (GO:0009887)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000343)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of chemokine production (GO:0032722)|positive regulation of chronic inflammatory response to antigenic stimulus (GO:0002876)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of hair follicle development (GO:0051798)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of mononuclear cell migration (GO:0071677)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of podosome assembly (GO:0071803)|positive regulation of programmed cell death (GO:0043068)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein localization to cell surface (GO:2000010)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein transport (GO:0051222)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translational initiation by iron (GO:0045994)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|receptor biosynthetic process (GO:0032800)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of immunoglobulin secretion (GO:0051023)|regulation of insulin secretion (GO:0050796)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to salt stress (GO:0009651)|response to virus (GO:0009615)|sequestering of triglyceride (GO:0030730)|skeletal muscle contraction (GO:0003009)|transformed cell apoptotic process (GO:0006927)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	cytokine activity (GO:0005125)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|transcription regulatory region DNA binding (GO:0044212)|tumor necrosis factor receptor binding (GO:0005164)			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Amrinone(DB01427)|Certolizumab pegol(DB08904)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Epinephrine(DB00668)|Etanercept(DB00005)|Glucosamine(DB01296)|golimumab(DB06674)|Infliximab(DB00065)|Pomalidomide(DB08910)|Pranlukast(DB01411)|Pseudoephedrine(DB00852)|Thalidomide(DB01041)	GCTTGTTCCTCAGCCTCTTCT	0.647									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																													uc003nui.3																			0				large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8						c.(97-99)ctC>ctT		Homo sapiens tumor necrosis factor (TNF), mRNA.	Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)						73.0	74.0	74.0					6																	31543617		2203	4300	6503	SO:0001819	synonymous_variant	7124	Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of	Familial Cancer Database	incl.: Familial Head and Neck Cancer	activation of MAPK activity|activation of MAPKKK activity|activation of caspase activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding	g.chr6:31543617C>T	X02910	CCDS4702.1	6p21.3	2013-05-22	2010-05-04		ENSG00000232810	ENSG00000232810		"""Tumor necrosis factor (ligand) superfamily"""	11892	protein-coding gene	gene with protein product	"""TNF superfamily, member 2"""	191160	"""tumor necrosis factor (TNF superfamily, member 2)"""	TNFA		2413547, 6392892	Standard	NM_000594		Approved	TNFSF2, DIF, TNF-alpha	uc003nui.4	P01375	OTTHUMG00000031194	ENST00000449264.2:c.99C>T	6.37:g.31543617C>T			Somatic				TNF_uc003nuj.3_5'Flank	p.L33L	NM_000594	NP_000585	WXS	Illumina GAIIx	Phase_I	P01375	TNFA_HUMAN			0	268	+		Ovarian(999;0.00556)	33					O43647|Q9P1Q2|Q9UIV3	Silent	SNP	ENST00000449264.2	37	c.99C>T	CCDS4702.1																																																																																				0.647	TNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076390.2			6	103	0	0	0	1	0	6	103				
SHANK1	50944	broad.mit.edu	37	19	51172499	51172499	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:51172499C>T	ENST00000293441.1	-	22	2736	c.2718G>A	c.(2716-2718)atG>atA	p.M906I	SHANK1_ENST00000391814.1_Missense_Mutation_p.M914I|SHANK1_ENST00000359082.3_Missense_Mutation_p.M897I|SYT3_ENST00000544769.1_5'Flank|SHANK1_ENST00000391813.1_Missense_Mutation_p.M293I	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	906					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GGCTGAATTTCATGGCTGGGG	0.647											OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002psx.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(2716-2718)atG>atA		Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.							23.0	21.0	22.0					19																	51172499		2201	4299	6500	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51172499C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2718G>A	19.37:g.51172499C>T	ENSP00000293441:p.Met906Ile		Somatic	OREG0025642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	975	SHANK1_uc002psw.1_Missense_Mutation_p.M290I	p.M906I	NM_016148	NP_057232	WXS	Illumina GAIIx	Phase_I	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	21	2737	-		all_neural(266;0.057)	906					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.2718G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	C	12.52	1.962070	0.34659	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.37411	1.31;1.76;1.3;1.2	3.77	2.71	0.32032	.	0.514149	0.15753	U	0.246306	T	0.31009	0.0783	L	0.46157	1.445	0.26874	N	0.96769	B;B	0.23990	0.006;0.095	B;B	0.30105	0.006;0.111	T	0.15723	-1.0427	10	0.27785	T	0.31	.	9.8462	0.41028	0.0:0.8927:0.0:0.1073	.	906;293	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	I	906;293;897;914	ENSP00000293441:M906I;ENSP00000375689:M293I;ENSP00000351984:M897I;ENSP00000375690:M914I	ENSP00000293441:M906I	M	-	3	0	SHANK1	55864311	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.914000	0.48797	1.826000	0.53198	0.549000	0.68633	ATG		0.647	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		3	41	0	0	0	1	0	3	41				
FARP1	10160	broad.mit.edu	37	13	99063014	99063014	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:99063014C>T	ENST00000319562.6	+	15	1894	c.1629C>T	c.(1627-1629)ttC>ttT	p.F543F	FARP1_ENST00000376586.2_Silent_p.F543F|FARP1_ENST00000595437.1_Silent_p.F543F	NM_005766.2	NP_005757.1	Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	543	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				dendrite morphogenesis (GO:0048813)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|synapse assembly (GO:0007416)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|synapse (GO:0045202)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGCGTACTTCATAGCTAAGG	0.408																																						uc001vnh.3																			0				breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49						c.(1627-1629)ttC>ttT		Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.							133.0	113.0	120.0					13																	99063014		2203	4300	6503	SO:0001819	synonymous_variant	10160				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	Rho guanyl-nucleotide exchange factor activity|cytoskeletal protein binding	g.chr13:99063014C>T	AB008430	CCDS9487.1, CCDS32000.1, CCDS66572.1	13q32.2	2013-01-10			ENSG00000152767	ENSG00000152767		"""Rho guanine nucleotide exchange factors"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Pleckstrin homology (PH) domain containing"""	3591	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 75"""	602654				9425278	Standard	NM_005766		Approved	CDEP, PLEKHC2, MGC87400, PPP1R75	uc001vnj.3	Q9Y4F1	OTTHUMG00000017248	ENST00000319562.6:c.1629C>T	13.37:g.99063014C>T			Somatic				FARP1_uc001vnj.3_Silent_p.F543F	p.F543F	NM_005766	NP_005757	WXS	Illumina GAIIx	Phase_I	Q9Y4F1	FARP1_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.233)		14	1868	+	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		543			DH.		Q5JVI9|Q6IQ29	Silent	SNP	ENST00000319562.6	37	c.1629C>T	CCDS9487.1	.	.	.	.	.	.	.	.	.	.	C	4.622	0.115587	0.08831	.	.	ENSG00000152767	ENST00000457029	.	.	.	5.79	4.95	0.65309	.	.	.	.	.	T	0.63414	0.2509	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.62062	-0.6933	4	.	.	.	.	11.8041	0.52143	0.0:0.8596:0.0:0.1404	.	.	.	.	L	72	.	.	S	+	2	0	FARP1	97861015	1.000000	0.71417	0.999000	0.59377	0.380000	0.30137	1.289000	0.33307	1.443000	0.47586	0.655000	0.94253	TCA		0.408	FARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045541.3	NM_005766		3	28	0	0	0	1	0	3	28				
AADACL2	344752	broad.mit.edu	37	3	151475099	151475099	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:151475099C>T	ENST00000356517.3	+	5	1032	c.923C>T	c.(922-924)tCa>tTa	p.S308L	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	308						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTTAGTTATTCATTGCCAGGA	0.363																																						uc003ezc.3																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24						c.(922-924)tCa>tTa		Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.							133.0	133.0	133.0					3																	151475099		2203	4298	6501	SO:0001583	missense	344752					extracellular region|integral to membrane	carboxylesterase activity	g.chr3:151475099C>T	BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.923C>T	3.37:g.151475099C>T	ENSP00000348911:p.Ser308Leu		Somatic				MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.S95L	p.S308L	NM_207365	NP_997248	WXS	Illumina GAIIx	Phase_I	Q6P093	ADCL2_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		4	1043	+			308					Q5HYJ4	Missense_Mutation	SNP	ENST00000356517.3	37	c.923C>T	CCDS3161.2	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615437	0.46631	.	.	ENSG00000197953	ENST00000356517	T	0.04234	3.67	5.01	3.13	0.36017	.	0.758589	0.12382	N	0.473814	T	0.09730	0.0239	M	0.79693	2.465	0.09310	N	1	B	0.21452	0.056	B	0.30646	0.118	T	0.16928	-1.0386	10	0.59425	D	0.04	-6.1238	6.3254	0.21240	0.18:0.7249:0.0:0.0952	.	308	Q6P093	ADCL2_HUMAN	L	308	ENSP00000348911:S308L	ENSP00000348911:S308L	S	+	2	0	AADACL2	152957789	0.000000	0.05858	0.009000	0.14445	0.387000	0.30353	0.151000	0.16283	1.351000	0.45789	0.591000	0.81541	TCA		0.363	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342288.3	NM_207365		8	105	0	0	0	1	0	8	105				
UBE4B	10277	broad.mit.edu	37	1	10209302	10209302	+	Silent	SNP	T	T	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:10209302T>C	ENST00000253251.8	+	19	3104	c.2265T>C	c.(2263-2265)taT>taC	p.Y755Y	UBE4B_ENST00000377157.3_Silent_p.Y639Y|UBE4B_ENST00000343090.6_Silent_p.Y884Y					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTGAGTTTTATGTAGAAGATG	0.274																																						uc021ogc.1																			0				NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(2803-2805)taT>taC		Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.							124.0	129.0	128.0					1																	10209302		2203	4299	6502	SO:0001819	synonymous_variant	10277				apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	g.chr1:10209302T>C	AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.2265T>C	1.37:g.10209302T>C			Somatic				UBE4B_uc001aqs.4_Silent_p.Y884Y|UBE4B_uc001aqr.4_Silent_p.Y755Y|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.Y339Y	p.Y935Y	NM_001105562	NP_001099032	WXS	Illumina GAIIx	Phase_I	O95155	UBE4B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)	20	3493	+		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	884						Silent	SNP	ENST00000253251.8	37	c.2805T>C	CCDS110.1																																																																																				0.274	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005017.1	NM_006048		5	53	0	0	0	1	0	5	53				
ERCC3	2071	broad.mit.edu	37	2	128036808	128036808	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:128036808C>G	ENST00000285398.2	-	10	1765	c.1671G>C	c.(1669-1671)aaG>aaC	p.K557N	ERCC3_ENST00000493187.2_Missense_Mutation_p.K493N	NM_000122.1	NP_000113.1	P19447	ERCC3_HUMAN	excision repair cross-complementation group 3	557	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				7-methylguanosine mRNA capping (GO:0006370)|apoptotic process (GO:0006915)|DNA repair (GO:0006281)|DNA topological change (GO:0006265)|gene expression (GO:0010467)|hair cell differentiation (GO:0035315)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA duplex unwinding (GO:0000717)|nucleotide-excision repair, DNA incision (GO:0033683)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|protein localization (GO:0008104)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)|viral process (GO:0016032)	holo TFIIH complex (GO:0005675)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' DNA helicase activity (GO:0043138)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|damaged DNA binding (GO:0003684)|dATP binding (GO:0032564)|DNA binding (GO:0003677)|GTP binding (GO:0005525)|peptide binding (GO:0042277)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		AGACAATAATCTTGTCATTCC	0.398			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													uc002toh.1			yes	Rec		Xeroderma pigmentosum (B)	2	2q21	2071	"""Mis, S"""	"""excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing)"""			E		"""skin basal cell, skin squamous cell, melanoma"""			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1669-1671)aaG>aaC	Nucleotide excision repair (NER)	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 3 (xeroderma pigmentosum group B complementing) (ERCC3), mRNA.							138.0	122.0	128.0					2																	128036808		2203	4300	6503	SO:0001583	missense	2071	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	DNA topological change|cell cycle checkpoint|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding	g.chr2:128036808C>G	M31899	CCDS2144.1	2q21	2014-09-17	2014-03-07		ENSG00000163161	ENSG00000163161		"""General transcription factors"", ""General transcription factor IIH complex subunits"""	3435	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group B complementing"""	133510	"""excision repair cross-complementing rodent repair deficiency, complementation group 3"""			8202161	Standard	NM_000122		Approved	XPB, BTF2, RAD25, TFIIH, GTF2H	uc002toh.1	P19447	OTTHUMG00000131530	ENST00000285398.2:c.1671G>C	2.37:g.128036808C>G	ENSP00000285398:p.Lys557Asn		Somatic				ERCC3_uc002toe.1_Missense_Mutation_p.K312N|ERCC3_uc002tof.1_Missense_Mutation_p.K493N|ERCC3_uc002tog.1_Missense_Mutation_p.K493N	p.K557N	NM_000122	NP_000113	WXS	Illumina GAIIx	Phase_I	P19447	ERCC3_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.073)	9	1766	-	Colorectal(110;0.1)		557			Helicase C-terminal.		Q53QM0	Missense_Mutation	SNP	ENST00000285398.2	37	c.1671G>C	CCDS2144.1	.	.	.	.	.	.	.	.	.	.	C	18.57	3.653280	0.67472	.	.	ENSG00000163161	ENST00000285398;ENST00000493187	T;T	0.80994	-1.44;-1.44	5.1	3.32	0.38043	Helicase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91171	0.7219	H	0.95328	3.655	0.80722	D	1	D	0.76494	0.999	D	0.70016	0.967	D	0.91222	0.5007	10	0.87932	D	0	-30.7812	9.585	0.39510	0.0:0.7543:0.0:0.2457	.	557	P19447	ERCC3_HUMAN	N	557;493	ENSP00000285398:K557N;ENSP00000444796:K493N	ENSP00000285398:K557N	K	-	3	2	ERCC3	127753278	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.609000	0.36858	0.747000	0.32809	0.591000	0.81541	AAG		0.398	ERCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331028.1	NM_000122		5	29	0	0	0	1	0	5	29				
JADE3	9767	broad.mit.edu	37	X	46898446	46898446	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:46898446G>A	ENST00000218343.4	+	8	1249	c.951G>A	c.(949-951)ttG>ttA	p.L317L	PHF16_ENST00000397189.1_Silent_p.L317L	NM_014735.3	NP_055550.1														NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						TGTGCAAGTTGAAGACGGGGG	0.532																																						uc004dgx.3																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						c.(949-951)ttG>ttA		Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.							94.0	79.0	84.0					X																	46898446		2203	4300	6503	SO:0001819	synonymous_variant	9767				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chrX:46898446G>A																												ENST00000218343.4:c.951G>A	X.37:g.46898446G>A			Somatic				PHF16_uc004dgy.3_Silent_p.L317L	p.L317L	NM_001077445	NP_055550	WXS	Illumina GAIIx	Phase_I	Q92613	JADE3_HUMAN			7	1002	+			317						Silent	SNP	ENST00000218343.4	37	c.951G>A	CCDS14271.1																																																																																				0.532	PHF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056376.1			6	24	0	0	0	1	0	6	24				
TPT1	7178	broad.mit.edu	37	13	45914212	45914212	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr13:45914212G>A	ENST00000530705.1	-	3	510	c.210C>T	c.(208-210)gtC>gtT	p.V70V	TPT1_ENST00000379056.1_Silent_p.V36V|TPT1-AS1_ENST00000520310.1_RNA|SNORA31_ENST00000362607.1_RNA|TPT1-AS1_ENST00000520622.1_RNA|TPT1_ENST00000379055.1_Silent_p.V36V|TPT1_ENST00000379060.4_Silent_p.V58V|RP11-290D2.6_ENST00000610057.1_RNA|TPT1_ENST00000309246.5_Silent_p.V70V|TPT1-AS1_ENST00000521336.1_RNA|TPT1-AS1_ENST00000412946.2_RNA|TPT1-AS1_ENST00000523506.1_RNA|TPT1-AS1_ENST00000517509.1_RNA|TPT1_ENST00000529421.1_5'UTR|TPT1-AS1_ENST00000520590.1_RNA			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	70					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ectoderm development (GO:2000384)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|regulation of apoptotic process (GO:0042981)|response to virus (GO:0009615)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|multivesicular body (GO:0005771)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		TGACAATATCGACACCAGTGA	0.458																																						uc001uzy.1																			0				lung(1)	1						c.(208-210)gtC>gtT		Homo sapiens tumor protein, translationally-controlled 1 (TPT1), mRNA.							145.0	123.0	130.0					13																	45914212		2203	4300	6503	SO:0001819	synonymous_variant	7178				anti-apoptosis|response to virus	extracellular space|multivesicular body	calcium ion binding|protein binding	g.chr13:45914212G>A	X16064	CCDS9397.1, CCDS66538.1, CCDS73566.1	13q14	2010-08-18			ENSG00000133112	ENSG00000133112			12022	protein-coding gene	gene with protein product		600763				2813067, 10343127	Standard	NM_001286273		Approved	TCTP, fortilin	uc001uzy.1	P13693	OTTHUMG00000016845	ENST00000530705.1:c.210C>T	13.37:g.45914212G>A			Somatic				TPT1_uc001uzz.1_Silent_p.V36V|SNORA31_uc001vaa.1_5'Flank|TPT1_uc010tfp.1_3'UTR|TPT1-AS1_uc010tfr.2_5'Flank|TPT1-AS1_uc001vac.3_5'Flank	p.V70V	NM_003295	NP_003286	WXS	Illumina GAIIx	Phase_I	P13693	TCTP_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)	2	303	-		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	70					B2R7E5|Q6YLS2|Q7Z4J4|Q8TBK7|Q96EE2|Q9UC70	Silent	SNP	ENST00000530705.1	37	c.210C>T	CCDS9397.1																																																																																				0.458	TPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044758.3			7	76	0	0	0	1	0	7	76				
TRPM2	7226	broad.mit.edu	37	21	45799002	45799002	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr21:45799002C>G	ENST00000397928.1	+	8	1582	c.1137C>G	c.(1135-1137)atC>atG	p.I379M	TRPM2_ENST00000397932.2_Missense_Mutation_p.I379M|TRPM2_ENST00000300481.9_Missense_Mutation_p.I379M|TRPM2_ENST00000300482.5_Missense_Mutation_p.I379M|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	379					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCTCCCTGATCCAGCAGAAAC	0.597																																						uc010gpt.1																			0				breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						c.(1135-1137)atC>atG		Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.							120.0	89.0	99.0					21																	45799002		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45799002C>G	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.1137C>G	21.37:g.45799002C>G	ENSP00000381023:p.Ile379Met		Somatic				TRPM2_uc002zet.1_Missense_Mutation_p.I379M|TRPM2_uc002zeu.1_Missense_Mutation_p.I379M|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.I379M|TRPM2_uc002zex.1_Missense_Mutation_p.I165M	p.I379M	NM_003307	NP_003298	WXS	Illumina GAIIx	Phase_I	O94759	TRPM2_HUMAN			7	1237	+			379					D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.1137C>G	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	11.75	1.731651	0.30684	.	.	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	3.84	-0.37	0.12530	.	0.058458	0.64402	D	0.000002	T	0.48390	0.1497	L	0.60957	1.885	0.47511	D	0.999449	D;D	0.76494	0.999;0.997	D;P	0.69654	0.965;0.795	T	0.38520	-0.9657	10	0.62326	D	0.03	-21.3636	9.1709	0.37081	0.0:0.519:0.0:0.481	.	379;379	E9PGK7;O94759	.;TRPM2_HUMAN	M	379	ENSP00000300482:I379M;ENSP00000381023:I379M;ENSP00000300481:I379M;ENSP00000381026:I379M	ENSP00000300481:I379M	I	+	3	3	TRPM2	44623430	0.989000	0.36119	0.994000	0.49952	0.308000	0.27856	0.300000	0.19156	-0.323000	0.08602	-0.251000	0.11542	ATC		0.597	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		4	79	0	0	0	1	0	4	79				
PPP1R13L	10848	broad.mit.edu	37	19	45889407	45889407	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr19:45889407G>A	ENST00000418234.2	-	9	1925	c.1847C>T	c.(1846-1848)tCc>tTc	p.S616F	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.S616F	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	616					apoptotic process (GO:0006915)|cardiac muscle contraction (GO:0060048)|cardiac right ventricle morphogenesis (GO:0003215)|embryonic camera-type eye development (GO:0031076)|hair cycle (GO:0042633)|multicellular organism growth (GO:0035264)|multicellular organismal homeostasis (GO:0048871)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|ventricular cardiac muscle tissue development (GO:0003229)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CTTGCGCGGGGAGCCCGCCTT	0.662																																					Pancreas(61;1447 1663 31419 50578)	uc002pbn.3																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1846-1848)tCc>tTc		Homo sapiens protein phosphatase 1, regulatory subunit 13 like (PPP1R13L), transcript variant 2, mRNA.							6.0	8.0	7.0					19																	45889407		2168	4237	6405	SO:0001583	missense	10848				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	g.chr19:45889407G>A	AF078036	CCDS33050.1	19q13.32	2013-01-10	2011-10-04		ENSG00000104881	ENSG00000104881		"""Ankyrin repeat domain containing"""	18838	protein-coding gene	gene with protein product		607463	"""protein phosphatase 1, regulatory (inhibitor) subunit 13 like"""			10336463	Standard	NM_006663		Approved	RAI, IASPP	uc002pbo.3	Q8WUF5		ENST00000418234.2:c.1847C>T	19.37:g.45889407G>A	ENSP00000403902:p.Ser616Phe		Somatic				PPP1R13L_uc002pbm.3_Missense_Mutation_p.S195F|PPP1R13L_uc002pbo.3_Missense_Mutation_p.S616F	p.S616F	NM_006663	NP_006654	WXS	Illumina GAIIx	Phase_I	Q8WUF5	IASPP_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0182)	8	1924	-		all_neural(266;0.224)|Ovarian(192;0.231)	616					Q2PNZ9|Q5DU71|Q5I1X4|Q6P1R7|Q6PKF8|Q9Y290	Missense_Mutation	SNP	ENST00000418234.2	37	c.1847C>T	CCDS33050.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061207	0.55432	.	.	ENSG00000104881	ENST00000418234;ENST00000360957;ENST00000221478	T;T	0.59224	0.28;0.28	4.99	4.99	0.66335	Src homology-3 domain (1);	0.512077	0.21425	N	0.074743	T	0.64204	0.2577	N	0.24115	0.695	0.38749	D	0.954079	D;D	0.76494	0.999;0.998	D;P	0.73708	0.981;0.896	T	0.70197	-0.4938	10	0.87932	D	0	.	15.8232	0.78676	0.0:0.0:1.0:0.0	.	616;195	Q8WUF5;A7YME7	IASPP_HUMAN;.	F	616;616;190	ENSP00000403902:S616F;ENSP00000354218:S616F	ENSP00000221478:S190F	S	-	2	0	PPP1R13L	50581247	1.000000	0.71417	0.999000	0.59377	0.803000	0.45373	6.367000	0.73099	2.601000	0.87937	0.561000	0.74099	TCC		0.662	PPP1R13L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457586.1	NM_006663		4	10	0	0	0	1	0	4	10				
PRDM8	56978	broad.mit.edu	37	4	81122505	81122505	+	Missense_Mutation	SNP	C	C	T	rs368720297		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:81122505C>T	ENST00000504452.1	+	7	1120	c.281C>T	c.(280-282)tCg>tTg	p.S94L	PRDM8_ENST00000339711.4_Missense_Mutation_p.S94L|PRDM8_ENST00000415738.2_Missense_Mutation_p.S94L			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	94	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TTGGTCCAATCGGCCAGAGAT	0.483																																						uc010ijo.3																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(280-282)tCg>tTg		Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.							52.0	54.0	53.0					4																	81122505		1896	4111	6007	SO:0001583	missense	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81122505C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.281C>T	4.37:g.81122505C>T	ENSP00000423985:p.Ser94Leu		Somatic				PRDM8_uc003hmb.4_Missense_Mutation_p.S94L|PRDM8_uc003hmc.4_Missense_Mutation_p.S94L	p.S94L	NM_020226	NP_064611	WXS	Illumina GAIIx	Phase_I	Q9NQV8	PRDM8_HUMAN			6	1120	+			94			SET.		A8K7X2|Q6IQ36	Missense_Mutation	SNP	ENST00000504452.1	37	c.281C>T	CCDS43243.1	.	.	.	.	.	.	.	.	.	.	C	34	5.383814	0.95967	.	.	ENSG00000152784	ENST00000504452;ENST00000515013;ENST00000339711;ENST00000415738	T;T;T;T	0.64085	-0.08;0.5;-0.08;-0.08	5.98	5.98	0.97165	SET domain (1);	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	L	0.35644	1.08	0.80722	D	1	D	0.67145	0.996	P	0.57548	0.823	T	0.69989	-0.4995	10	0.62326	D	0.03	.	20.0665	0.97706	0.0:1.0:0.0:0.0	.	94	Q9NQV8	PRDM8_HUMAN	L	94	ENSP00000423985:S94L;ENSP00000425149:S94L;ENSP00000339764:S94L;ENSP00000406998:S94L	ENSP00000339764:S94L	S	+	2	0	PRDM8	81341529	0.999000	0.42202	0.995000	0.50966	0.571000	0.35966	7.775000	0.85489	2.847000	0.97988	0.591000	0.81541	TCG		0.483	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			8	33	0	0	0	1	0	8	33				
INSRR	3645	broad.mit.edu	37	1	156821796	156821796	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:156821796G>A	ENST00000368195.3	-	3	1221	c.825C>T	c.(823-825)gtC>gtT	p.V275V	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	275					actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCTCAGCTGTGACACAGCGCC	0.657																																						uc010pht.2																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(823-825)gtC>gtT		Homo sapiens insulin receptor-related receptor (INSRR), mRNA.							26.0	24.0	25.0					1																	156821796		2203	4299	6502	SO:0001819	synonymous_variant	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156821796G>A	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.825C>T	1.37:g.156821796G>A			Somatic				NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Silent_p.V275V	p.V275V	NM_014215	NP_055030	WXS	Illumina GAIIx	Phase_I	P14616	INSRR_HUMAN			2	1124	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		275					O60724|Q5VZS3	Silent	SNP	ENST00000368195.3	37	c.825C>T	CCDS1160.1																																																																																				0.657	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215		5	35	0	0	0	1	0	5	35				
CD38	952	broad.mit.edu	37	4	15780234	15780234	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr4:15780234G>A	ENST00000226279.3	+	1	334	c.197G>A	c.(196-198)cGa>cAa	p.R66Q		NM_001775.2	NP_001766.2	P28907	CD38_HUMAN	CD38 molecule	66					apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|female pregnancy (GO:0007565)|long term synaptic depression (GO:0060292)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone resorption (GO:0045779)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell growth (GO:0030307)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasoconstriction (GO:0045907)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hydroperoxide (GO:0033194)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	NAD(P)+ nucleosidase activity (GO:0050135)|NAD+ nucleosidase activity (GO:0003953)|phosphorus-oxygen lyase activity (GO:0016849)|transferase activity (GO:0016740)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GTCCTGGCGCGATGCGTCAAG	0.672																																						uc003gol.1																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						c.(196-198)cGa>cAa		Homo sapiens CD38 molecule (CD38), mRNA.							70.0	72.0	71.0					4																	15780234		2203	4300	6503	SO:0001583	missense	952				B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	NAD+ nucleosidase activity|binding|receptor activity	g.chr4:15780234G>A	D84276	CCDS3417.1	4p15.32	2010-05-04	2006-03-28		ENSG00000004468	ENSG00000004468	3.2.2.5	"""CD molecules"""	1667	protein-coding gene	gene with protein product	"""ADP-ribosyl cyclase 1"", ""NAD(+) nucleosidase"""	107270	"""CD38 antigen (p45)"""			9074508, 2319135	Standard	NM_001775		Approved		uc003gol.1	P28907	OTTHUMG00000048206	ENST00000226279.3:c.197G>A	4.37:g.15780234G>A	ENSP00000226279:p.Arg66Gln		Somatic				CD38_uc021xmk.1_Non-coding_Transcript	p.R66Q	NM_001775	NP_001766	WXS	Illumina GAIIx	Phase_I	P28907	CD38_HUMAN			0	304	+			66					O00121|O00122|Q96HY4	Missense_Mutation	SNP	ENST00000226279.3	37	c.197G>A	CCDS3417.1	.	.	.	.	.	.	.	.	.	.	G	17.73	3.461937	0.63513	.	.	ENSG00000004468	ENST00000226279;ENST00000540195	T	0.24151	1.87	2.98	2.98	0.34508	.	0.065284	0.64402	D	0.000016	T	0.50667	0.1629	M	0.84948	2.725	0.22330	N	0.999191	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.34229	-0.9837	10	0.87932	D	0	.	9.6733	0.40026	0.0:0.0:1.0:0.0	.	66;66	P28907;B2R880	CD38_HUMAN;.	Q	66	ENSP00000226279:R66Q	ENSP00000226279:R66Q	R	+	2	0	CD38	15389332	0.265000	0.24102	0.027000	0.17364	0.009000	0.06853	3.075000	0.50073	1.990000	0.58119	0.462000	0.41574	CGA		0.672	CD38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250322.2	NM_001775		11	62	0	0	0	1	0	11	62				
ITGA2B	3674	broad.mit.edu	37	17	42458006	42458006	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:42458006G>A	ENST00000262407.5	-	14	1432	c.1401C>T	c.(1399-1401)atC>atT	p.I467I	ITGA2B_ENST00000353281.4_Silent_p.I467I|ITGA2B_ENST00000377068.3_3'UTR	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	467					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)	p.I467I(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	AAGCTCCCACGATCAGGTCTA	0.602																																						uc002igt.1																			1	Substitution - coding silent(1)	p.I467I(2)	large_intestine(1)	biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1399-1401)atC>atT		Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	Tirofiban(DB00775)						118.0	111.0	114.0					17																	42458006		2203	4300	6503	SO:0001819	synonymous_variant	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42458006G>A		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1401C>T	17.37:g.42458006G>A			Somatic				ITGA2B_uc002igu.1_5'UTR	p.I467I	NM_000419	NP_000410	WXS	Illumina GAIIx	Phase_I	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	13	1433	-		Prostate(33;0.0181)	467					B2RCY8|O95366|Q14443|Q17R67	Silent	SNP	ENST00000262407.5	37	c.1401C>T	CCDS32665.1																																																																																				0.602	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			12	77	0	0	0	1	0	12	77				
PACSIN3	29763	broad.mit.edu	37	11	47200728	47200728	+	Missense_Mutation	SNP	C	C	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:47200728C>A	ENST00000539589.1	-	8	1224	c.882G>T	c.(880-882)atG>atT	p.M294I	ARFGAP2_ENST00000395449.3_5'Flank|ARFGAP2_ENST00000524782.1_5'Flank|PACSIN3_ENST00000298838.6_Missense_Mutation_p.M294I|ARFGAP2_ENST00000319543.6_5'Flank|ARFGAP2_ENST00000426335.2_5'Flank|ARFGAP2_ENST00000419701.2_5'Flank	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	294	F-BAR domain. {ECO:0000250}.				endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of endocytosis (GO:0045806)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium channel inhibitor activity (GO:0019855)|cytoskeletal protein binding (GO:0008092)|lipid binding (GO:0008289)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GTGGCCAGTTCATGGCCATGC	0.627																																						uc001ndw.3																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						c.(880-882)atG>atT		Homo sapiens protein kinase C and casein kinase substrate in neurons 3 (PACSIN3), transcript variant 1, mRNA.							117.0	122.0	120.0					11																	47200728		2201	4298	6499	SO:0001583	missense	29763				endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding	g.chr11:47200728C>A	AF130979	CCDS31481.1	11p12-p11	2008-02-05				ENSG00000165912			8572	protein-coding gene	gene with protein product	"""syndapin III"""	606513				10531379	Standard	NM_016223		Approved	SDPIII	uc001ndx.3	Q9UKS6		ENST00000539589.1:c.882G>T	11.37:g.47200728C>A	ENSP00000440945:p.Met294Ile		Somatic				ARFGAP2_uc001ndt.3_5'Flank|ARFGAP2_uc010rhb.2_5'Flank|ARFGAP2_uc001ndu.3_5'Flank|ARFGAP2_uc010rhc.2_5'Flank|ARFGAP2_uc010rhd.2_5'Flank|PACSIN3_uc001ndy.3_Missense_Mutation_p.M294I|PACSIN3_uc001ndx.3_Missense_Mutation_p.M294I	p.M294I	NM_001184975	NP_057307	WXS	Illumina GAIIx	Phase_I	Q9UKS6	PACN3_HUMAN			7	1225	-			294					A6NH84|Q9H331|Q9NWV9	Missense_Mutation	SNP	ENST00000539589.1	37	c.882G>T	CCDS31481.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	26.8|26.8|26.8	4.767618|4.767618|4.767618	0.90020|0.90020|0.90020	.|.|.	.|.|.	ENSG00000165912|ENSG00000165912|ENSG00000165912	ENST00000533686|ENST00000298838;ENST00000539589;ENST00000528462|ENST00000415232	.|T;T;T|.	.|0.26957|.	.|1.7;1.7;1.7|.	5.24|5.24|5.24	5.24|5.24|5.24	0.73138|0.73138|0.73138	.|.|.	.|0.038691|.	.|0.85682|.	.|D|.	.|0.000000|.	.|T|.	.|0.78000|.	.|0.4215|.	M|M|M	0.77486|0.77486|0.77486	2.375|2.375|2.375	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|P|.	.|0.50528|.	.|0.936|.	.|P|.	.|0.59424|.	.|0.857|.	.|T|.	.|0.78054|.	.|-0.2354|.	.|10|.	.|0.10377|.	.|T|.	.|0.69|.	-23.6025|-23.6025|-23.6025	19.1833|19.1833|19.1833	0.93632|0.93632|0.93632	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|294|.	.|Q9UKS6|.	.|PACN3_HUMAN|.	X|I|L	17|294|293	.|ENSP00000298838:M294I;ENSP00000440945:M294I;ENSP00000437252:M294I|.	.|ENSP00000298838:M294I|.	E|M|X	-|-|-	1|3|2	0|0|2	PACSIN3|PACSIN3|PACSIN3	47157304|47157304|47157304	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.993000|0.993000|0.993000	0.82548|0.82548|0.82548	7.776000|7.776000|7.776000	0.85560|0.85560|0.85560	2.606000|2.606000|2.606000	0.88127|0.88127|0.88127	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GAA|ATG|TGA		0.627	PACSIN3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391632.1	NM_016223		26	265	0	0	0	1	0	26	265				
CHST11	50515	broad.mit.edu	37	12	104851270	104851270	+	Silent	SNP	C	C	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:104851270C>A	ENST00000303694.5	+	1	520	c.81C>A	c.(79-81)atC>atA	p.I27I	CHST11_ENST00000549260.1_Silent_p.I27I|CHST11_ENST00000547956.1_Silent_p.I27I|CHST11_ENST00000546689.1_Silent_p.I27I	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	27					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondrocyte development (GO:0002063)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|developmental growth (GO:0048589)|embryonic digit morphogenesis (GO:0042733)|embryonic viscerocranium morphogenesis (GO:0048703)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|polysaccharide localization (GO:0033037)|post-anal tail morphogenesis (GO:0036342)|post-embryonic development (GO:0009791)|regulation of cell proliferation (GO:0042127)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	chondroitin 4-sulfotransferase activity (GO:0047756)|N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity (GO:0050659)			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GATCCTTTATCCTGGTCATCT	0.532																																						uc001tkz.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						c.(79-81)atC>atA		Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 11 (CHST11), transcript variant 1, mRNA.							218.0	202.0	208.0					12																	104851270		2203	4300	6503	SO:0001819	synonymous_variant	50515				chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity|chondroitin 4-sulfotransferase activity	g.chr12:104851270C>A	AB042326	CCDS9099.1, CCDS55878.1	12q23.3	2008-02-05				ENSG00000171310	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17422	protein-coding gene	gene with protein product		610128				10781601	Standard	NM_018413		Approved	C4ST1, C4St-1, C4ST, HSA269537	uc001tkz.3	Q9NPF2	OTTHUMG00000169803	ENST00000303694.5:c.81C>A	12.37:g.104851270C>A			Somatic				CHST11_uc001tky.3_Silent_p.I27I	p.I27I	NM_018413	NP_060883	WXS	Illumina GAIIx	Phase_I	Q9NPF2	CHSTB_HUMAN			0	579	+			27					A8K4F8|Q9NXY6|Q9NY36	Silent	SNP	ENST00000303694.5	37	c.81C>A	CCDS9099.1																																																																																				0.532	CHST11-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000405960.2	NM_018413		6	91	0	0	0	1	0	6	91				
KIAA1468	57614	broad.mit.edu	37	18	59947626	59947626	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr18:59947626G>A	ENST00000398130.2	+	23	3233	c.3001G>A	c.(3001-3003)Gac>Aac	p.D1001N	KIAA1468_ENST00000256858.6_Intron	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1001										autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGCGTTAGTTGACAAGCGGGT	0.448																																						uc002lil.3																			0				autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47						c.(3001-3003)Gac>Aac		Homo sapiens KIAA1468 (KIAA1468), mRNA.							129.0	117.0	121.0					18																	59947626		2203	4300	6503	SO:0001583	missense	57614						binding	g.chr18:59947626G>A	BC011992	CCDS11979.2	18q21.33	2005-11-03			ENSG00000134444	ENSG00000134444			29289	protein-coding gene	gene with protein product						11973628	Standard	NM_020854		Approved	HsT885, HsT3308, FLJ33841	uc002lil.3	Q9P260	OTTHUMG00000132780	ENST00000398130.2:c.3001G>A	18.37:g.59947626G>A	ENSP00000381198:p.Asp1001Asn		Somatic				KIAA1468_uc010xel.2_Intron|KIAA1468_uc002lim.3_Intron	p.D1001N	NM_020854	NP_065905	WXS	Illumina GAIIx	Phase_I	Q9P260	K1468_HUMAN			22	3216	+		Colorectal(73;0.186)	1001						Missense_Mutation	SNP	ENST00000398130.2	37	c.3001G>A	CCDS11979.2	.	.	.	.	.	.	.	.	.	.	G	9.528	1.109970	0.20714	.	.	ENSG00000134444	ENST00000398130	T	0.67865	-0.29	5.67	5.67	0.87782	Armadillo-like helical (1);Armadillo-type fold (1);	0.091023	0.85682	D	0.000000	T	0.44095	0.1277	N	0.01576	-0.805	0.31783	N	0.630635	B	0.21071	0.051	B	0.29524	0.103	T	0.34875	-0.9811	9	.	.	.	.	20.1169	0.97940	0.0:0.0:1.0:0.0	.	1001	Q9P260	K1468_HUMAN	N	1001	ENSP00000381198:D1001N	.	D	+	1	0	KIAA1468	58098606	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.777000	0.99008	2.835000	0.97688	0.591000	0.81541	GAC		0.448	KIAA1468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256187.1	NM_020854		9	127	0	0	0	1	0	9	127				
HID1	283987	broad.mit.edu	37	17	72959073	72959073	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:72959073C>T	ENST00000425042.2	-	4	568	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	164					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											AGTGCTCCTCCGGTGGCTCTG	0.662																																						uc002jmj.4																			0				endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17						c.(490-492)cGg>cAg		Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.							46.0	51.0	49.0					17																	72959073		2203	4300	6503	SO:0001583	missense	283987					integral to membrane|plasma membrane	protein binding	g.chr17:72959073C>T		CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.491G>A	17.37:g.72959073C>T	ENSP00000413520:p.Arg164Gln		Somatic				C17orf28_uc010wrs.2_5'UTR|C17orf28_uc002jmk.2_Missense_Mutation_p.R163Q	p.R164Q	NM_030630	NP_085133	WXS	Illumina GAIIx	Phase_I	Q8IV36	CQ028_HUMAN			3	640	-	all_lung(278;0.151)|Lung NSC(278;0.185)		164					Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	ENST00000425042.2	37	c.491G>A	CCDS32726.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.41|18.41	3.618083|3.618083	0.66787|0.66787	.|.	.|.	ENSG00000167861|ENSG00000167861	ENST00000534480|ENST00000425042;ENST00000530857	.|.	.|.	.|.	4.65|4.65	3.68|3.68	0.42216|0.42216	.|.	.|0.057405	.|0.64402	.|D	.|0.000003	T|T	0.52289|0.52289	0.1725|0.1725	M|M	0.62723|0.62723	1.935|1.935	0.51767|0.51767	D|D	0.999931|0.999931	.|P;B	.|0.45768	.|0.866;0.023	.|B;B	.|0.39904	.|0.313;0.029	T|T	0.51702|0.51702	-0.8672|-0.8672	6|9	0.87932|0.31617	D|T	0|0.26	-20.5564|-20.5564	12.5368|12.5368	0.56145|0.56145	0.0:0.9181:0.0:0.0819|0.0:0.9181:0.0:0.0819	.|.	.|163;164	.|Q8IV36-2;Q8IV36	.|.;CQ028_HUMAN	R|Q	154|164;56	.|.	ENSP00000435751:G154R|ENSP00000413520:R164Q	G|R	-|-	1|2	0|0	C17orf28|C17orf28	70470668|70470668	1.000000|1.000000	0.71417|0.71417	0.965000|0.965000	0.40720|0.40720	0.982000|0.982000	0.71751|0.71751	4.363000|4.363000	0.59473|0.59473	0.942000|0.942000	0.37525|0.37525	0.561000|0.561000	0.74099|0.74099	GGA|CGG		0.662	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390011.2	NM_030630		8	72	0	0	0	1	0	8	72				
GPR158	57512	broad.mit.edu	37	10	25464395	25464395	+	Missense_Mutation	SNP	C	C	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:25464395C>A	ENST00000376351.3	+	1	405	c.46C>A	c.(46-48)Cag>Aag	p.Q16K	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	16					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CCTGCTTGCTCAGCTGGGATT	0.637																																						uc001isj.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(46-48)Cag>Aag		Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.							35.0	41.0	39.0					10																	25464395		2203	4293	6496	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464395C>A	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.46C>A	10.37:g.25464395C>A	ENSP00000365529:p.Gln16Lys		Somatic				LOC100128811_uc010qde.1_Intron	p.Q16K	NM_020752	NP_065803	WXS	Illumina GAIIx	Phase_I	Q5T848	GP158_HUMAN			0	106	+			16					Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.46C>A	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	C	13.23	2.176392	0.38413	.	.	ENSG00000151025	ENST00000376351	T	0.59083	0.29	4.72	4.72	0.59763	.	1.302630	0.05575	N	0.571782	T	0.40645	0.1125	N	0.14661	0.345	0.19575	N	0.999968	B	0.19817	0.039	B	0.16722	0.016	T	0.15065	-1.0450	10	0.07813	T	0.8	.	11.0535	0.47905	0.0:0.9137:0.0:0.0863	.	16	Q5T848	GP158_HUMAN	K	16	ENSP00000365529:Q16K	ENSP00000365529:Q16K	Q	+	1	0	GPR158	25504401	0.641000	0.27251	0.139000	0.22197	0.942000	0.58702	3.736000	0.55052	2.462000	0.83206	0.467000	0.42956	CAG		0.637	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		6	92	0	0	0	1	0	6	92				
ACTA1	58	broad.mit.edu	37	1	229567331	229567331	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:229567331G>C	ENST00000366684.3	-	7	1151	c.1049C>G	c.(1048-1050)tCg>tGg	p.S350W	ACTA1_ENST00000366683.2_Missense_Mutation_p.S262W	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	350			S -> L (in NEM3).		cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				GGTGGACAGCGAGGCCAGGAT	0.627																																						uc001htm.3																			0				endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	GRCh37	CM034515	ACTA1	M		c.(1048-1050)tCg>tGg		Homo sapiens actin, alpha 1, skeletal muscle (ACTA1), mRNA.	Dornase Alfa(DB00003)						90.0	89.0	90.0					1																	229567331		2203	4300	6503	SO:0001583	missense	58				muscle filament sliding|skeletal muscle fiber development|skeletal muscle thin filament assembly	actin filament|cytosol|stress fiber|striated muscle thin filament	ADP binding|ATP binding|myosin binding|structural constituent of cytoskeleton	g.chr1:229567331G>C	J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.1049C>G	1.37:g.229567331G>C	ENSP00000355645:p.Ser350Trp		Somatic					p.S350W	NM_001100	NP_001091	WXS	Illumina GAIIx	Phase_I	P68133	ACTS_HUMAN			6	1154	-	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)	350		S -> L (in NEM3).			P02568|P99020|Q5T8M9	Missense_Mutation	SNP	ENST00000366684.3	37	c.1049C>G	CCDS1578.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.818011	0.50633	.	.	ENSG00000143632	ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682;ENST00000342787	D;D	0.95588	-3.75;-3.75	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	D	0.98934	0.9638	H	0.99870	4.87	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.98776	1.0730	10	0.87932	D	0	.	16.4141	0.83728	0.0:0.0:1.0:0.0	.	350	P68133	ACTS_HUMAN	W	350;260;262;315;227	ENSP00000355645:S350W;ENSP00000355644:S262W	ENSP00000312351:S260W	S	-	2	0	ACTA1	227633954	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.540000	0.98080	2.163000	0.67991	0.563000	0.77884	TCG		0.627	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092781.1	NM_001100		11	194	0	0	0	1	0	11	194				
SIAH1	6477	broad.mit.edu	37	16	48395650	48395650	+	Silent	SNP	A	A	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:48395650A>G	ENST00000380006.2	-	1	2143	c.690T>C	c.(688-690)caT>caC	p.H230H	SIAH1_ENST00000394725.2_Silent_p.H230H|LONP2_ENST00000564259.1_3'UTR|SIAH1_ENST00000356721.3_Silent_p.H261H			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	230	SBD.				anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				ATCGTCGCCTATGACCATTTA	0.443																																						uc002efn.1																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7						c.(781-783)caT>caC		Homo sapiens seven in absentia homolog 1 (Drosophila) (SIAH1), transcript variant 2, mRNA.							123.0	104.0	110.0					16																	48395650		2200	4300	6500	SO:0001819	synonymous_variant	6477				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:48395650A>G	U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.690T>C	16.37:g.48395650A>G			Somatic				MIR548AE2_uc021thr.1_Intron|LOC100507577_uc002efk.2_Non-coding_Transcript|SIAH1_uc002efl.3_Non-coding_Transcript|SIAH1_uc002efo.1_Silent_p.H230H|SIAH1_uc021ths.1_Silent_p.H230H|LOC100507577_uc021tht.1_5'Flank	p.H261H	NM_001006610	NP_003022	WXS	Illumina GAIIx	Phase_I	Q8IUQ4	SIAH1_HUMAN			1	1179	-		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)	230			SBD.		A0FKF3|O43269|Q49A58|Q92880	Silent	SNP	ENST00000380006.2	37	c.783T>C	CCDS10735.1																																																																																				0.443	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12			3	34	0	0	0	1	0	3	34				
LAMP2	3920	broad.mit.edu	37	X	119573020	119573020	+	Intron	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:119573020G>C	ENST00000200639.4	-	8	1230				LAMP2_ENST00000434600.2_Intron|LAMP2_ENST00000540603.1_Missense_Mutation_p.Q361E|LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000371335.4_Missense_Mutation_p.Q408E			P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2						blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	enzyme binding (GO:0019899)			endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TACAGAGTCTGATATCCAGCA	0.348																																						uc010nqp.1																			0				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						c.(1222-1224)Cag>Gag		Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant B, mRNA.							134.0	115.0	122.0					X																	119573020		2203	4300	6503	SO:0001627	intron_variant	3920				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		g.chrX:119573020G>C	X77196	CCDS14599.1, CCDS14600.1, CCDS48159.1	Xq24-q25	2014-09-17			ENSG00000005893	ENSG00000005893		"""CD molecules"""	6501	protein-coding gene	gene with protein product		309060					Standard	NM_002294		Approved	CD107b	uc004ess.4	P13473	OTTHUMG00000022301	ENST00000200639.4:c.1093+2564C>G	X.37:g.119573020G>C			Somatic				LAMP2_uc004est.4_Intron|LAMP2_uc004ess.4_Intron|LAMP2_uc011mtz.2_Intron|LAMP2_uc011mua.1_Missense_Mutation_p.Q361E	p.Q408E	NM_013995	NP_054701	WXS	Illumina GAIIx	Phase_I	P13473	LAMP2_HUMAN			8	1402	-			408					A8K4X5|D3DTF0|Q16641|Q6Q3G8|Q96J30|Q99534|Q9UD93	Missense_Mutation	SNP	ENST00000200639.4	37	c.1222C>G	CCDS14599.1	.	.	.	.	.	.	.	.	.	.	G	13.32	2.201304	0.38905	.	.	ENSG00000005893	ENST00000371335;ENST00000540603	T;T	0.35789	1.29;1.29	5.62	5.62	0.85841	.	.	.	.	.	T	0.29817	0.0745	L	0.28694	0.88	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.13407	0.009;0.002	T	0.04961	-1.0915	9	0.23302	T	0.38	.	17.6029	0.88030	0.0:0.0:1.0:0.0	.	361;408	B4E2S7;P13473-2	.;.	E	408;361	ENSP00000360386:Q408E;ENSP00000440479:Q361E	ENSP00000360386:Q408E	Q	-	1	0	LAMP2	119457048	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.476000	0.97823	2.373000	0.80994	0.600000	0.82982	CAG		0.348	LAMP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058099.1			7	33	0	0	0	1	0	7	33				
COPZ1	22818	broad.mit.edu	37	12	54741787	54741787	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:54741787G>A	ENST00000262061.2	+	7	436	c.399G>A	c.(397-399)gtG>gtA	p.V133V	COPZ1_ENST00000416254.2_Silent_p.V82V|COPZ1_ENST00000552218.1_Silent_p.V154V|COPZ1_ENST00000551779.1_Silent_p.V133V|COPZ1_ENST00000548281.1_3'UTR|COPZ1_ENST00000549116.1_Silent_p.V75V|COPZ1_ENST00000455864.2_Silent_p.V110V|COPZ1_ENST00000552362.1_Silent_p.V133V|COPZ1_ENST00000548753.1_Silent_p.V45V|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000549043.1_Silent_p.V141V|COPZ1_ENST00000553231.1_Silent_p.V110V	NM_001271734.1|NM_001271736.1|NM_016057.1	NP_001258663.1|NP_001258665.1|NP_057141.1	P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	133					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)				kidney(1)|lung(4)	5						TTTGCAGGGTGATCCTAGAGA	0.512																																						uc009znm.1																			0				kidney(1)|lung(4)	5						c.(421-423)gtG>gtA		Homo sapiens coatomer protein complex, subunit zeta 1 (COPZ1), mRNA.							163.0	156.0	159.0					12																	54741787		2203	4300	6503	SO:0001819	synonymous_variant	22818				COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol		g.chr12:54741787G>A	AF151878	CCDS8877.1, CCDS61137.1, CCDS61138.1, CCDS61139.1	12q13.2-q13.3	2008-02-05		2003-07-23					2243	protein-coding gene	gene with protein product		615472	"""coatomer protein complex, subunit zeta"""	COPZ			Standard	NM_001271734		Approved	CGI-120	uc009znm.2	P61923		ENST00000262061.2:c.399G>A	12.37:g.54741787G>A			Somatic				COPZ1_uc001sfs.1_Silent_p.V133V|COPZ1_uc001sft.2_Silent_p.V82V|COPZ1_uc010sot.1_Silent_p.V110V	p.V141V	NM_016057	NP_057141	WXS	Illumina GAIIx	Phase_I	P61923	COPZ1_HUMAN			6	520	+			133					B4DDX8|B4DHZ0|F8VS17|F8VWL5|Q549N6|Q9Y3C3	Silent	SNP	ENST00000262061.2	37	c.423G>A	CCDS8877.1																																																																																				0.512	COPZ1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405753.1	NM_016057		8	69	0	0	0	1	0	8	69				
PTPN22	26191	broad.mit.edu	37	1	114380398	114380398	+	Missense_Mutation	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:114380398G>A	ENST00000359785.5	-	13	1759	c.1624C>T	c.(1624-1626)Cca>Tca	p.P542S	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000538253.1_Missense_Mutation_p.P298S|PTPN22_ENST00000525799.1_Missense_Mutation_p.P415S|PTPN22_ENST00000528414.1_Missense_Mutation_p.P487S|PTPN22_ENST00000420377.2_Missense_Mutation_p.P542S	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	542					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACCACTTGGAGGCCATGAT	0.393																																						uc001eds.3																			0				NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						c.(1624-1626)Cca>Tca		Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.							139.0	134.0	136.0					1																	114380398		2203	4300	6503	SO:0001583	missense	26191				T cell differentiation|negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	SH3 domain binding|kinase binding|protein tyrosine phosphatase activity	g.chr1:114380398G>A	AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1624C>T	1.37:g.114380398G>A	ENSP00000352833:p.Pro542Ser		Somatic				PTPN22_uc021orx.1_Missense_Mutation_p.P542S|PTPN22_uc009wgq.3_Missense_Mutation_p.P487S|PTPN22_uc021ory.1_Missense_Mutation_p.P518S|PTPN22_uc010owo.2_Missense_Mutation_p.P298S|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.P542S|PTPN22_uc009wgs.2_Missense_Mutation_p.P415S|PTPN22_uc001edu.2_Missense_Mutation_p.P542S	p.P542S	NM_015967	NP_057051	WXS	Illumina GAIIx	Phase_I	Q9Y2R2	PTN22_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	12	1754	-	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)	542					A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	ENST00000359785.5	37	c.1624C>T	CCDS863.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.231022	0.39399	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.62498	0.02;0.02;0.02;0.02;0.02	5.96	5.06	0.68205	.	0.186873	0.38436	N	0.001686	T	0.66307	0.2776	M	0.62723	1.935	0.48830	D	0.999714	D;D;P;B;D;D	0.89917	1.0;1.0;0.925;0.379;0.98;0.997	D;D;P;B;P;P	0.91635	0.999;0.999;0.601;0.15;0.898;0.863	T	0.70234	-0.4928	10	0.51188	T	0.08	.	9.1097	0.36720	0.1634:0.0:0.8366:0.0	.	298;415;542;487;542;542	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	S	542;487;298;542;415;542	ENSP00000352833:P542S;ENSP00000435176:P487S;ENSP00000439372:P298S;ENSP00000388229:P542S;ENSP00000432674:P415S	ENSP00000346621:P542S	P	-	1	0	PTPN22	114181921	0.994000	0.37717	0.956000	0.39512	0.327000	0.28475	0.996000	0.29719	1.539000	0.49286	0.655000	0.94253	CCA		0.393	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033015.1	NM_015967		5	66	0	0	0	1	0	5	66				
IRS1	3667	broad.mit.edu	37	2	227662792	227662792	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr2:227662792G>A	ENST00000305123.5	-	1	1683	c.663C>T	c.(661-663)ttC>ttT	p.F221F	RP11-395N3.2_ENST00000607970.1_lincRNA|IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	221	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CCTCGATGAAGAAGAAGTTTT	0.607											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002voh.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(661-663)ttC>ttT		Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.							77.0	84.0	82.0					2																	227662792		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	SH2 domain binding|insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227662792G>A		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.663C>T	2.37:g.227662792G>A			Somatic	OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	2321	IRS1_uc021vxn.1_Silent_p.F221F	p.F221F	NM_005544	NP_005535	WXS	Illumina GAIIx	Phase_I	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	0	715	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	221			IRS-type PTB.			Silent	SNP	ENST00000305123.5	37	c.663C>T	CCDS2463.1																																																																																				0.607	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		9	114	0	0	0	1	0	9	114				
CHD3	1107	broad.mit.edu	37	17	7798683	7798683	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:7798683G>C	ENST00000330494.7	+	10	1680	c.1530G>C	c.(1528-1530)caG>caC	p.Q510H	CHD3_ENST00000380358.4_Missense_Mutation_p.Q569H|CHD3_ENST00000358181.4_Missense_Mutation_p.Q510H	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	510	Chromo 1. {ECO:0000255|PROSITE- ProRule:PRU00053}.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GTCGAGTGCAGAAGATCCTAC	0.557																																						uc002gjd.2																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(1705-1707)caG>caC		Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.							91.0	86.0	88.0					17																	7798683		2203	4300	6503	SO:0001583	missense	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	NuRD complex|microtubule organizing center	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7798683G>C	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.1530G>C	17.37:g.7798683G>C	ENSP00000332628:p.Gln510His		Somatic				CHD3_uc002gje.2_Missense_Mutation_p.Q510H|CHD3_uc002gjf.2_Missense_Mutation_p.Q510H|CHD3_uc002gjg.1_Missense_Mutation_p.Q338H	p.Q569H	NM_001005271	NP_001005271	WXS	Illumina GAIIx	Phase_I	Q12873	CHD3_HUMAN			9	1709	+		Prostate(122;0.202)	510			Chromo 1.		D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	ENST00000330494.7	37	c.1707G>C	CCDS32554.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.76|14.76	2.631868|2.631868	0.46944|0.46944	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000452447|ENST00000380358;ENST00000358181;ENST00000330494	.|T;T;T	.|0.42513	.|0.97;0.97;0.97	5.4|5.4	2.26|2.26	0.28386|0.28386	.|Zinc finger, RING/FYVE/PHD-type (1);Chromo domain-like (1);Chromo domain/shadow (1);	.|0.000000	.|0.43747	.|D	.|0.000533	T|T	0.62865|0.62865	0.2463|0.2463	M|M	0.82433|0.82433	2.59|2.59	0.50171|0.50171	D|D	0.999859|0.999859	.|D;D;D	.|0.71674	.|0.998;0.996;0.996	.|D;D;D	.|0.80764	.|0.994;0.986;0.986	T|T	0.65121|0.65121	-0.6245|-0.6245	5|10	.|0.49607	.|T	.|0.09	-30.0879|-30.0879	10.8936|10.8936	0.47010|0.47010	0.2671:0.0:0.7329:0.0|0.2671:0.0:0.7329:0.0	.|.	.|510;510;569	.|Q12873-2;Q12873;E9PG89	.|.;CHD3_HUMAN;.	Q|H	381|569;510;510	.|ENSP00000369716:Q569H;ENSP00000350907:Q510H;ENSP00000332628:Q510H	.|ENSP00000332628:Q510H	E|Q	+|+	1|3	0|2	CHD3|CHD3	7739408|7739408	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	0.787000|0.787000	0.26858|0.26858	0.839000|0.839000	0.34971|0.34971	0.561000|0.561000	0.74099|0.74099	GAA|CAG		0.557	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		8	138	0	0	0	1	0	8	138				
CTCF	10664	broad.mit.edu	37	16	67663340	67663340	+	Missense_Mutation	SNP	G	G	C			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr16:67663340G>C	ENST00000264010.4	+	10	2185	c.1741G>C	c.(1741-1743)Gat>Cat	p.D581H	CTCF_ENST00000401394.1_Missense_Mutation_p.D253H	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	581					chromatin modification (GO:0016568)|chromosome segregation (GO:0007059)|DNA methylation (GO:0006306)|maintenance of DNA methylation (GO:0010216)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome positioning (GO:0016584)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone acetylation (GO:0035065)|regulation of histone methylation (GO:0031060)|regulation of molecular function, epigenetic (GO:0040030)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin insulator sequence binding (GO:0043035)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		TGCTGGCCCAGATGGCGTAGA	0.408																																					Colon(175;1200 1966 6945 23069 27405)	uc002etl.3																			0		p.P580T(1)		breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79						c.(1741-1743)Gat>Cat		Homo sapiens CCCTC-binding factor (zinc finger protein) (CTCF), transcript variant 1, mRNA.							131.0	121.0	124.0					16																	67663340		2198	4300	6498	SO:0001583	missense	10664				chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:67663340G>C	U25435	CCDS10841.1, CCDS54029.1	16q21-q22.3	2013-01-08			ENSG00000102974	ENSG00000102974		"""Zinc fingers, C2H2-type"""	13723	protein-coding gene	gene with protein product	"""11 zinc finger transcriptional repressor"""	604167				8649389, 18550811	Standard	NM_006565		Approved		uc002etl.3	P49711	OTTHUMG00000137539	ENST00000264010.4:c.1741G>C	16.37:g.67663340G>C	ENSP00000264010:p.Asp581His		Somatic				CTCF_uc010cek.3_Missense_Mutation_p.D253H|CTCF_uc002etm.1_Missense_Mutation_p.D70H	p.D581H	NM_006565	NP_001177951	WXS	Illumina GAIIx	Phase_I	P49711	CTCF_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)	9	2185	+		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)	581					B5MC38|Q53XI7|Q59EL8	Missense_Mutation	SNP	ENST00000264010.4	37	c.1741G>C	CCDS10841.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.247577	0.80024	.	.	ENSG00000102974	ENST00000264010;ENST00000401394	T;T	0.08807	3.05;3.08	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000002	T	0.19167	0.0460	N	0.24115	0.695	0.58432	D	0.999999	D;D	0.76494	0.984;0.999	P;D	0.77557	0.527;0.99	T	0.01998	-1.1232	10	0.62326	D	0.03	-4.7454	19.0838	0.93194	0.0:0.0:1.0:0.0	.	253;581	B5MC38;P49711	.;CTCF_HUMAN	H	581;253	ENSP00000264010:D581H;ENSP00000384707:D253H	ENSP00000264010:D581H	D	+	1	0	CTCF	66220841	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	8.589000	0.90817	2.625000	0.88918	0.313000	0.20887	GAT		0.408	CTCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268870.2	NM_006565		7	57	0	0	0	1	0	7	57				
FAM47C	442444	broad.mit.edu	37	X	37027623	37027623	+	Silent	SNP	G	G	A			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chrX:37027623G>A	ENST00000358047.3	+	1	1192	c.1140G>A	c.(1138-1140)ccG>ccA	p.P380P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	380										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCTGCCCGGAACCTCCCA	0.617																																						uc004ddl.2																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1138-1140)ccG>ccA		Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.							62.0	62.0	62.0					X																	37027623		2202	4300	6502	SO:0001819	synonymous_variant	442444							g.chrX:37027623G>A	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1140G>A	X.37:g.37027623G>A			Somatic					p.P380P	NM_001013736	NP_001013758	WXS	Illumina GAIIx	Phase_I	Q5HY64	FA47C_HUMAN			0	1192	+			380					Q6ZU46	Silent	SNP	ENST00000358047.3	37	c.1140G>A	CCDS35227.1																																																																																				0.617	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		3	48	0	0	0	1	0	3	48				
SART1	9092	broad.mit.edu	37	11	65731499	65731499	+	Intron	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:65731499C>T	ENST00000312397.5	+	2	405				SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells						cell cycle arrest (GO:0007050)|intrinsic apoptotic signaling pathway (GO:0097193)|mRNA splicing, via spliceosome (GO:0000398)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|spliceosomal snRNP assembly (GO:0000387)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ATGCTGGCTTCTTGGCCCTGT	0.567																																						uc009yqy.1																			0				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(334-336)ttC>ttT		Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.							52.0	42.0	45.0					11																	65731499		2201	4296	6497	SO:0001627	intron_variant	9092				cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol		g.chr11:65731499C>T	AB006198	CCDS31611.1	11q13.1	2009-01-06	2006-12-07		ENSG00000175467	ENSG00000175467			10538	protein-coding gene	gene with protein product	"""small nuclear ribonucleoprotein 110kDa (U4/U6.U5)"""	605941	"""squamous cell carcinoma antigen recognised by T cells"""			9449708	Standard	NM_005146		Approved	Ara1, Snu66, SNRNP110	uc001ogl.3	O43290	OTTHUMG00000166771	ENST00000312397.5:c.314-46C>T	11.37:g.65731499C>T			Somatic				SART1_uc010rot.1_Intron|SART1_uc001ogl.3_Intron	p.F112F			WXS	Illumina GAIIx	Phase_I	O43290	SNUT1_HUMAN			1	428	+			0					A6NDN1|Q53GB5	Silent	SNP	ENST00000312397.5	37	c.336C>T	CCDS31611.1																																																																																				0.567	SART1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391409.1			3	14	0	0	0	1	0	3	14				
MYH3	4621	broad.mit.edu	37	17	10533478	10533478	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:10533478C>T	ENST00000583535.1	-	38	5580	c.5493G>A	c.(5491-5493)caG>caA	p.Q1831Q	MYH3_ENST00000226209.7_Silent_p.Q1831Q	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1831					actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|embryonic limb morphogenesis (GO:0030326)|face morphogenesis (GO:0060325)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|sarcomere organization (GO:0045214)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGTTCTTCTTCTGCTCTCCCT	0.552																																						uc002gmq.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						c.(5491-5493)caG>caA		Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.							262.0	259.0	260.0					17																	10533478		2203	4300	6503	SO:0001819	synonymous_variant	4621				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	ATP binding|actin binding|calmodulin binding|microfilament motor activity	g.chr17:10533478C>T		CCDS11157.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109063	ENSG00000109063		"""Myosins / Myosin superfamily : Class II"""	7573	protein-coding gene	gene with protein product	"""myosin, skeletal, heavy chain, embryonic 1"", ""muscle embryonic myosin heavy chain 3"""	160720	"""myosin, heavy polypeptide 3, skeletal muscle, embryonic"""			2726495	Standard	NM_002470		Approved	MYHC-EMB, MYHSE1, HEMHC, SMHCE	uc002gmq.2	P11055	OTTHUMG00000130367	ENST00000583535.1:c.5493G>A	17.37:g.10533478C>T			Somatic					p.Q1831Q	NM_002470	NP_002461	WXS	Illumina GAIIx	Phase_I	P11055	MYH3_HUMAN			37	5581	-			1831					Q15492	Silent	SNP	ENST00000583535.1	37	c.5493G>A	CCDS11157.1																																																																																				0.552	MYH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252734.2	NM_002470		19	226	0	0	0	1	0	19	226				
CCNJ	54619	broad.mit.edu	37	10	97817702	97817702	+	Nonsense_Mutation	SNP	C	C	T	rs149060787		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:97817702C>T	ENST00000265992.5	+	6	1190	c.823C>T	c.(823-825)Cag>Tag	p.Q275*	CCNJ_ENST00000403870.3_Nonsense_Mutation_p.Q274*|ENTPD1-AS1_ENST00000451364.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|CCNJ_ENST00000534974.1_Nonsense_Mutation_p.Q275*|CCNJ_ENST00000465148.2_Nonsense_Mutation_p.Q286*|ENTPD1-AS1_ENST00000452728.1_RNA|ENTPD1-AS1_ENST00000458228.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	275						nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		AGTTCACTTTCAGCAACCTCA	0.502																																						uc010qoq.2																			0				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11						c.(856-858)Cag>Tag		Homo sapiens cyclin J (CCNJ), transcript variant 1, mRNA.							246.0	206.0	219.0					10																	97817702		2203	4300	6503	SO:0001587	stop_gained	54619					nucleus		g.chr10:97817702C>T	AK001757	CCDS7445.1, CCDS44462.1, CCDS44463.1	10q23.33	2008-05-14			ENSG00000107443	ENSG00000107443			23434	protein-coding gene	gene with protein product						12477932	Standard	NM_019084		Approved	FLJ10895, bA690P14.1	uc010qoq.2	Q5T5M9	OTTHUMG00000018823	ENST00000265992.5:c.823C>T	10.37:g.97817702C>T	ENSP00000265992:p.Gln275*		Somatic				LOC728558_uc001klg.2_Intron|LOC728558_uc001klj.2_Intron|CCNJ_uc001klm.3_Nonsense_Mutation_p.Q275*|CCNJ_uc001kln.3_Nonsense_Mutation_p.Q274*	p.Q286*	NM_001134375	NP_001127847	WXS	Illumina GAIIx	Phase_I	Q5T5M9	CCNJ_HUMAN		Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)	5	1215	+			275					B7Z4E7|Q86XL1|Q9NV69	Nonsense_Mutation	SNP	ENST00000265992.5	37	c.856C>T	CCDS7445.1	.	.	.	.	.	.	.	.	.	.	C	39	7.689009	0.98434	.	.	ENSG00000107443	ENST00000265992;ENST00000419934;ENST00000403870;ENST00000534974	.	.	.	5.5	5.5	0.81552	.	0.177671	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-10.7644	18.5443	0.91040	0.0:1.0:0.0:0.0	.	.	.	.	X	275;286;274;275	.	ENSP00000265992:Q275X	Q	+	1	0	CCNJ	97807692	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.220000	0.65267	2.744000	0.94065	0.655000	0.94253	CAG		0.502	CCNJ-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090166.3	NM_019084		14	159	0	0	0	1	0	14	159				
TENM4	26011	broad.mit.edu	37	11	78437190	78437190	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr11:78437190C>T	ENST00000278550.7	-	23	3946	c.3484G>A	c.(3484-3486)Gaa>Aaa	p.E1162K		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1162					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GCGTCAATTTCATAGCCCTGC	0.443																																						uc001ozl.4																			0				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(3484-3486)Gaa>Aaa		Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.							310.0	300.0	303.0					11																	78437190		1930	4132	6062	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78437190C>T	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3484G>A	11.37:g.78437190C>T	ENSP00000278550:p.Glu1162Lys		Somatic					p.E1162K	NM_001098816	NP_001092286	WXS	Illumina GAIIx	Phase_I	Q6N022	TEN4_HUMAN			22	3947	-			1162					A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.3484G>A	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	36	5.661972	0.96734	.	.	ENSG00000149256	ENST00000278550	D	0.90004	-2.6	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.93946	0.8062	M	0.70842	2.15	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	D	0.93123	0.6526	9	.	.	.	.	19.1899	0.93660	0.0:1.0:0.0:0.0	.	1162	Q6N022	TEN4_HUMAN	K	1162	ENSP00000278550:E1162K	.	E	-	1	0	ODZ4	78114838	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.932000	0.70121	2.760000	0.94817	0.655000	0.94253	GAA		0.443	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			26	234	0	0	0	1	0	26	234				
ANGPTL1	9068	broad.mit.edu	37	1	178820385	178820385	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr1:178820385C>T	ENST00000234816.2	-	6	1802	c.1355G>A	c.(1354-1356)gGa>gAa	p.G452E	RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.G452E	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	452	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GTACCATACTCCATTTAGGTT	0.438																																						uc001gma.3																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						c.(1354-1356)gGa>gAa		Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.							166.0	149.0	155.0					1																	178820385		2203	4300	6503	SO:0001583	missense	9068					extracellular space	receptor binding	g.chr1:178820385C>T	AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.1355G>A	1.37:g.178820385C>T	ENSP00000234816:p.Gly452Glu		Somatic				RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.G452E	p.G452E	NM_004673	NP_004664	WXS	Illumina GAIIx	Phase_I	O95841	ANGL1_HUMAN			5	1831	-			452			Fibrinogen C-terminal.		Q5T5Z5	Missense_Mutation	SNP	ENST00000234816.2	37	c.1355G>A	CCDS1327.1	.	.	.	.	.	.	.	.	.	.	C	33	5.228456	0.95173	.	.	ENSG00000116194	ENST00000234816;ENST00000367629	D;D	0.94138	-3.36;-3.36	5.87	5.87	0.94306	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);Fibrinogen, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	H	0.98646	4.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98866	1.0764	10	0.87932	D	0	.	20.1777	0.98189	0.0:1.0:0.0:0.0	.	452	O95841	ANGL1_HUMAN	E	452	ENSP00000234816:G452E;ENSP00000356601:G452E	ENSP00000234816:G452E	G	-	2	0	ANGPTL1	177087008	1.000000	0.71417	0.966000	0.40874	0.987000	0.75469	7.776000	0.85560	2.941000	0.99782	0.655000	0.94253	GGA		0.438	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084924.1	NM_004673		6	76	0	0	0	1	0	6	76				
ALAS1	211	broad.mit.edu	37	3	52238848	52238848	+	Silent	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:52238848C>T	ENST00000394965.2	+	6	1077	c.717C>T	c.(715-717)ctC>ctT	p.L239L	ALAS1_ENST00000469224.1_Silent_p.L239L|ALAS1_ENST00000484952.1_Silent_p.L239L|ALAS1_ENST00000310271.2_Silent_p.L239L	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	239					cellular lipid metabolic process (GO:0044255)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	5-aminolevulinate synthase activity (GO:0003870)|pyridoxal phosphate binding (GO:0030170)			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)	CAGACTCCCTCATCACCAAAA	0.473																																						uc011bec.2																			0				endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(766-768)ctC>ctT		Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						92.0	88.0	89.0					3																	52238848		2203	4300	6503	SO:0001819	synonymous_variant	211				heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr3:52238848C>T	X56351	CCDS2847.1	3p21	2004-11-18			ENSG00000023330	ENSG00000023330	2.3.1.37		396	protein-coding gene	gene with protein product		125290		ALAS3, ALAS			Standard	NM_000688		Approved		uc003dcz.2	P13196	OTTHUMG00000158108	ENST00000394965.2:c.717C>T	3.37:g.52238848C>T			Somatic				ALAS1_uc003dcy.2_Silent_p.L239L|ALAS1_uc003dcz.2_Silent_p.L239L	p.L256L	NM_199166	NP_954635	WXS	Illumina GAIIx	Phase_I	P13196	HEM1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	5	1088	+			239						Silent	SNP	ENST00000394965.2	37	c.768C>T	CCDS2847.1																																																																																				0.473	ALAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350207.1			7	91	0	0	0	1	0	7	91				
BCL2L14	79370	broad.mit.edu	37	12	12240312	12240312	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr12:12240312C>G	ENST00000308721.5	+	3	805	c.599C>G	c.(598-600)tCt>tGt	p.S200C	BCL2L14_ENST00000589718.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000396367.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000396369.1_Missense_Mutation_p.S200C|BCL2L14_ENST00000266434.4_Missense_Mutation_p.S200C|BCL2L14_ENST00000586576.1_Missense_Mutation_p.S233C	NM_138723.1	NP_620049.1	Q9BZR8	B2L14_HUMAN	BCL2-like 14 (apoptosis facilitator)	200					apoptotic process (GO:0006915)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular organelle (GO:0043229)|membrane (GO:0016020)	protein kinase binding (GO:0019901)			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GCTTCAAGTTCTAAGAAAGGT	0.532																																						uc001rac.3																			0				large_intestine(1)|lung(2)|skin(3)	6						c.(598-600)tCt>tGt		Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.							111.0	113.0	112.0					12																	12240312		2203	4300	6503	SO:0001583	missense	79370				apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	g.chr12:12240312C>G	AF281254	CCDS8645.1, CCDS8646.1	12p13-p12	2014-03-07			ENSG00000121380	ENSG00000121380			16657	protein-coding gene	gene with protein product		606126				11054413	Standard	NM_030766		Approved	BCLG, BCL-G	uc001rac.3	Q9BZR8	OTTHUMG00000159528	ENST00000308721.5:c.599C>G	12.37:g.12240312C>G	ENSP00000309132:p.Ser200Cys		Somatic				ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Missense_Mutation_p.S200C|BCL2L14_uc001rae.3_Missense_Mutation_p.S200C	p.S200C	NM_138723	NP_620049	WXS	Illumina GAIIx	Phase_I	Q9BZR8	B2L14_HUMAN		BRCA - Breast invasive adenocarcinoma(232;0.154)	2	800	+		Prostate(47;0.0872)	200					A8KAD0|Q96QR5|Q9BZR7	Missense_Mutation	SNP	ENST00000308721.5	37	c.599C>G	CCDS8645.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124865	0.56613	.	.	ENSG00000121380	ENST00000308721;ENST00000266434;ENST00000396369;ENST00000396367	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	3.11	1.24	0.21308	.	0.704873	0.12042	N	0.504963	T	0.34454	0.0898	L	0.47716	1.5	0.09310	N	1	D;D	0.69078	0.997;0.992	P;P	0.54460	0.753;0.719	T	0.15263	-1.0443	10	0.87932	D	0	-0.045	4.4836	0.11780	0.0:0.6388:0.2308:0.1304	.	200;200	Q9BZR8-2;Q9BZR8	.;B2L14_HUMAN	C	200	ENSP00000309132:S200C;ENSP00000266434:S200C;ENSP00000379655:S200C;ENSP00000379653:S200C	ENSP00000266434:S200C	S	+	2	0	BCL2L14	12131579	0.002000	0.14202	0.015000	0.15790	0.936000	0.57629	0.562000	0.23531	0.347000	0.23924	0.655000	0.94253	TCT		0.532	BCL2L14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355994.3	NM_030766		5	57	0	0	0	1	0	5	57				
KCNIP2	30819	broad.mit.edu	37	10	103587154	103587154	+	Missense_Mutation	SNP	C	C	T			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr10:103587154C>T	ENST00000356640.2	-	10	1044	c.769G>A	c.(769-771)Gag>Aag	p.E257K	KCNIP2_ENST00000353068.3_Missense_Mutation_p.E214K|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000343195.4_Missense_Mutation_p.E207K|KCNIP2_ENST00000370046.1_Missense_Mutation_p.E171K|KCNIP2_ENST00000358038.3_Missense_Mutation_p.E239K|KCNIP2-AS1_ENST00000412353.1_RNA|KCNIP2_ENST00000348850.5_Missense_Mutation_p.E212K|KCNIP2_ENST00000461105.1_Missense_Mutation_p.E272K	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	257	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.|Interaction with KCND2. {ECO:0000250}.				clustering of voltage-gated potassium channels (GO:0045163)|detection of calcium ion (GO:0005513)|membrane repolarization (GO:0086009)|muscle contraction (GO:0006936)|potassium ion export (GO:0071435)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of cation channel activity (GO:2001257)|regulation of heart contraction (GO:0008016)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|calcium ion binding (GO:0005509)|ER retention sequence binding (GO:0046923)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		ATGATGTTCTCATCCTGTGGC	0.527																																						uc001kuc.3																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(814-816)Gag>Aag		Homo sapiens Kv channel interacting protein 2 (KCNIP2), transcript variant 1, mRNA.							135.0	120.0	125.0					10																	103587154		2203	4300	6503	SO:0001583	missense	30819				clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|ER retention sequence binding|calcium ion binding|identical protein binding|protein N-terminus binding	g.chr10:103587154C>T		CCDS7521.1, CCDS7522.1, CCDS7523.1, CCDS7524.1, CCDS7525.1, CCDS7526.1, CCDS41562.1	10q24.32	2013-09-20	2001-11-29		ENSG00000120049	ENSG00000120049		"""EF-hand domain containing"""	15522	protein-coding gene	gene with protein product		604661	"""Kv channel-interacting protein 2"""			10676964	Standard	NM_173192		Approved	KCHIP2	uc001kuc.3	Q9NS61	OTTHUMG00000018937	ENST00000356640.2:c.769G>A	10.37:g.103587154C>T	ENSP00000349055:p.Glu257Lys		Somatic				LOC100289509_uc021pxh.1_Intron|KCNIP2_uc010qqg.2_Missense_Mutation_p.E201K|KCNIP2_uc001ktx.3_Non-coding_Transcript|KCNIP2_uc001kty.3_Missense_Mutation_p.E155K|KCNIP2_uc001ktz.3_Missense_Mutation_p.E212K|KCNIP2_uc009xwv.3_Missense_Mutation_p.E203K|KCNIP2_uc001kub.3_Missense_Mutation_p.E257K|KCNIP2_uc001kue.3_Missense_Mutation_p.E239K|KCNIP2_uc001kud.3_Missense_Mutation_p.E214K|KCNIP2_uc001kuf.3_Missense_Mutation_p.E207K|KCNIP2_uc001kua.3_Missense_Mutation_p.E188K|KCNIP2_uc009xwu.3_Missense_Mutation_p.E206K	p.E272K	NM_014591	NP_055406	WXS	Illumina GAIIx	Phase_I	Q9NS61	KCIP2_HUMAN		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)	9	1166	-		Colorectal(252;0.122)	257					A6NJE5|A8MQ75|Q3YAC6|Q3YAC8|Q3YAC9|Q7Z6F1|Q96K86|Q96T41|Q96T42|Q96T43|Q96T44|Q9H0N4|Q9HD10|Q9HD11|Q9NS60|Q9NY10|Q9NZI1	Missense_Mutation	SNP	ENST00000356640.2	37	c.814G>A	CCDS7522.1	.	.	.	.	.	.	.	.	.	.	C	17.17	3.320215	0.60634	.	.	ENSG00000120049	ENST00000348850;ENST00000358038;ENST00000359877;ENST00000370059;ENST00000356640;ENST00000370046;ENST00000434163;ENST00000353068;ENST00000461105;ENST00000343195	T;T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;0.99;-0.25;-0.25;-0.25	4.97	4.97	0.65823	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78742	0.4331	L	0.55990	1.75	0.80722	D	1	P;D;P;D;P;D;D;P;D;B;B	0.54964	0.644;0.963;0.937;0.963;0.927;0.963;0.962;0.51;0.969;0.267;0.095	P;P;P;P;D;P;D;B;P;B;B	0.68192	0.725;0.831;0.682;0.831;0.922;0.753;0.956;0.129;0.867;0.078;0.298	T	0.78580	-0.2149	10	0.52906	T	0.07	.	18.7755	0.91910	0.0:1.0:0.0:0.0	.	201;203;206;207;239;214;272;257;188;212;164	B4DHY9;Q9NS61-5;Q3YAC7;Q9NS61-3;Q9NS61-2;Q9NS61-7;Q9NS61-6;Q9NS61;B3KSZ5;Q3YAC6;Q9NS61-8	.;.;.;.;.;.;.;KCIP2_HUMAN;.;.;.	K	212;239;188;239;257;171;164;214;272;207	ENSP00000239118:E212K;ENSP00000350733:E239K;ENSP00000349055:E257K;ENSP00000359063:E171K;ENSP00000411679:E164K;ENSP00000341624:E214K;ENSP00000420040:E272K;ENSP00000344169:E207K	ENSP00000344169:E207K	E	-	1	0	KCNIP2	103577144	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.609000	0.82925	2.746000	0.94184	0.561000	0.74099	GAG		0.527	KCNIP2-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049973.1			10	176	0	0	0	1	0	10	176				
TMEM2	23670	broad.mit.edu	37	9	74300217	74300217	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:74300217C>G	ENST00000377044.4	-	24	4587	c.4048G>C	c.(4048-4050)Gaa>Caa	p.E1350Q	TMEM2_ENST00000377066.5_Missense_Mutation_p.E1287Q|TMEM2_ENST00000396272.3_Missense_Mutation_p.E343Q	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1350					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATGAATTGTTCAAGCACCCCA	0.458																																						uc011lsa.1																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(4048-4050)Gaa>Caa		Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.							115.0	105.0	108.0					9																	74300217		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74300217C>G		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.4048G>C	9.37:g.74300217C>G	ENSP00000366243:p.Glu1350Gln		Somatic				TMEM2_uc011lrz.1_Missense_Mutation_p.E343Q|TMEM2_uc010mos.2_Missense_Mutation_p.E1287Q|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.E184Q	p.E1350Q	NM_013390	NP_037522	WXS	Illumina GAIIx	Phase_I	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	23	4588	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	1350					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.4048G>C	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	C	17.69	3.452163	0.63290	.	.	ENSG00000135048	ENST00000377044;ENST00000377066;ENST00000396272	T;T;T	0.74737	-0.87;-0.78;2.4	5.53	5.53	0.82687	.	0.161807	0.53938	D	0.000053	T	0.75627	0.3875	M	0.62723	1.935	0.58432	D	0.999996	P;P	0.45212	0.853;0.849	B;B	0.43623	0.376;0.425	T	0.73975	-0.3813	10	0.29301	T	0.29	.	19.4587	0.94906	0.0:1.0:0.0:0.0	.	1350;1287	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	Q	1350;1287;343	ENSP00000366243:E1350Q;ENSP00000366266:E1287Q;ENSP00000379569:E343Q	ENSP00000366243:E1350Q	E	-	1	0	TMEM2	73490037	1.000000	0.71417	0.945000	0.38365	0.990000	0.78478	5.630000	0.67805	2.601000	0.87937	0.555000	0.69702	GAA		0.458	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		7	84	0	0	0	1	0	7	84				
ITPR1	3708	broad.mit.edu	37	3	4715019	4715019	+	Missense_Mutation	SNP	G	G	A	rs369080877		TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr3:4715019G>A	ENST00000443694.2	+	18	2359	c.2359G>A	c.(2359-2361)Gtg>Atg	p.V787M	ITPR1_ENST00000423119.2_Missense_Mutation_p.V802M|ITPR1_ENST00000357086.4_Missense_Mutation_p.V802M|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Missense_Mutation_p.V802M|ITPR1_ENST00000456211.2_Missense_Mutation_p.V787M|ITPR1_ENST00000302640.8_Missense_Mutation_p.V787M			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	802					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	AGTCACCCCCGTGAAATATGC	0.562																																						uc003bqc.3																			0				NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106						c.(2359-2361)Gtg>Atg		Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.		G	MET/VAL,MET/VAL,MET/VAL	0,3922		0,0,1961	90.0	96.0	94.0		2404,2359,2359	5.0	1.0	3		94	2,8300		0,2,4149	no	missense,missense,missense	ITPR1	NM_001099952.2,NM_001168272.1,NM_002222.5	21,21,21	0,2,6110	AA,AG,GG		0.0241,0.0,0.0164	probably-damaging,probably-damaging,probably-damaging	802/2711,787/2744,787/2696	4715019	2,12222	1961	4151	6112	SO:0001583	missense	3708				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	g.chr3:4715019G>A	D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.2359G>A	3.37:g.4715019G>A	ENSP00000401671:p.Val787Met		Somatic				ITPR1_uc021wsi.1_Missense_Mutation_p.V802M|ITPR1_uc021wsj.1_Missense_Mutation_p.V787M|ITPR1_uc011asu.2_Intron	p.V787M	NM_001168272	NP_001161744	WXS	Illumina GAIIx	Phase_I	Q14643	ITPR1_HUMAN		Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	19	2709	+			802					E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	c.2359G>A	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	32	5.110476	0.94292	0.0	2.41E-4	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000357086;ENST00000456211;ENST00000443694	D;D;D;D;D;D	0.92805	-3.11;-3.11;-3.1;-3.1;-3.1;-3.11	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.96546	0.8873	M	0.87547	2.89	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.989;0.996;0.995	D	0.96466	0.9345	10	0.54805	T	0.06	.	18.3862	0.90468	0.0:0.0:1.0:0.0	.	787;802;802	E7EPX7;Q14643;G5E9P1	.;ITPR1_HUMAN;.	M	802;787;802;802;802;787;787	ENSP00000306253:V787M;ENSP00000346595:V802M;ENSP00000405934:V802M;ENSP00000349597:V802M;ENSP00000397885:V787M;ENSP00000401671:V787M	ENSP00000306253:V787M	V	+	1	0	ITPR1	4690019	1.000000	0.71417	0.968000	0.41197	0.971000	0.66376	9.511000	0.98006	2.739000	0.93911	0.491000	0.48974	GTG		0.562	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222		12	124	0	0	0	1	0	12	124				
FLII	2314	broad.mit.edu	37	17	18150552	18150552	+	Missense_Mutation	SNP	C	C	G			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr17:18150552C>G	ENST00000327031.4	-	21	2832	c.2607G>C	c.(2605-2607)aaG>aaC	p.K869N	FLII_ENST00000545457.2_Missense_Mutation_p.K814N|FLII_ENST00000579294.1_Missense_Mutation_p.K858N|FLII_ENST00000379450.4_Missense_Mutation_p.K783N|FLII_ENST00000578558.1_Intron	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	869					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					TCTGGTCTTTCTTCTCGGCGT	0.667																																						uc002gsr.1																			0				central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						c.(2605-2607)aaG>aaC		Homo sapiens flightless I homolog (Drosophila) (FLII), transcript variant 1, mRNA.							51.0	56.0	54.0					17																	18150552		2203	4300	6503	SO:0001583	missense	2314				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding	g.chr17:18150552C>G	U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.2607G>C	17.37:g.18150552C>G	ENSP00000324573:p.Lys869Asn		Somatic				FLII_uc002gsq.1_Missense_Mutation_p.K740N|FLII_uc010vxn.1_Missense_Mutation_p.K838N|FLII_uc010vxo.1_Missense_Mutation_p.K814N|FLII_uc002gss.1_Missense_Mutation_p.K868N	p.K869N	NM_002018	NP_002009	WXS	Illumina GAIIx	Phase_I	Q13045	FLII_HUMAN			20	2658	-	all_neural(463;0.228)		869					B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	ENST00000327031.4	37	c.2607G>C	CCDS11192.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124306	0.56613	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.38240	1.15;1.23	5.41	2.31	0.28768	.	0.215747	0.48767	N	0.000180	T	0.26340	0.0643	L	0.51422	1.61	0.47037	D	0.999295	B;B;B;B;P	0.39665	0.09;0.09;0.001;0.207;0.682	B;B;B;B;B	0.32980	0.015;0.015;0.002;0.023;0.156	T	0.02736	-1.1117	10	0.32370	T	0.25	-33.6021	8.7649	0.34698	0.0:0.7469:0.1264:0.1267	.	783;783;748;869;838	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	N	869;748;783	ENSP00000324573:K869N;ENSP00000368763:K783N	ENSP00000324573:K869N	K	-	3	2	FLII	18091277	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	5.453000	0.66645	0.256000	0.21614	-0.300000	0.09419	AAG		0.667	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132032.2	NM_002018		7	55	0	0	0	1	0	7	55				
DNAJC25	548645	broad.mit.edu	37	9	114393996	114393996	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DO-A2HM-01B-11D-A22D-08	TCGA-DO-A2HM-10B-01D-A22D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4db75b1-bd83-4158-a816-9d95c4ebdd8e	89bf52a8-dfde-48d5-96ee-d81e013d6ca1	g.chr9:114393996delG	ENST00000313525.3	+	1	365	c.309delG	c.(307-309)ctgfs	p.L103fs	DNAJC25-GNG10_ENST00000374294.3_Frame_Shift_Del_p.L103fs|LRRC37A5P_ENST00000374304.1_RNA|DNAJC25_ENST00000556107.1_Frame_Shift_Del_p.L103fs	NM_001015882.2	NP_001015882.2	Q9H1X3	DJC25_HUMAN	DnaJ (Hsp40) homolog, subfamily C , member 25	103	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						CTTTCCTGCTGGTGGCAACCG	0.741																																						uc004bfl.3																			0				kidney(1)|large_intestine(2)|lung(1)|skin(4)	8						c.(307-309)ctgfs		Homo sapiens DnaJ (Hsp40) homolog, subfamily C , member 25 (DNAJC25), transcript variant 1, mRNA.							2.0	2.0	2.0					9																	114393996		1478	3139	4617	SO:0001589	frameshift_variant	548645				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr9:114393996delG		CCDS43862.1	9q31.3	2011-09-02			ENSG00000059769	ENSG00000059769		"""Heat shock proteins / DNAJ (HSP40)"""	34187	protein-coding gene	gene with protein product							Standard	NM_001015882		Approved	bA16L21.2.1	uc004bfl.3	Q9H1X3	OTTHUMG00000020491	ENST00000313525.3:c.309delG	9.37:g.114393996delG	ENSP00000320650:p.Leu103fs		Somatic				DNAJC25_uc004bfn.3_Frame_Shift_Del_p.L103fs|DNAJC25_uc004bfm.3_5'UTR	p.L103fs	NM_001015882	NP_001015882	WXS	Illumina GAIIx	Phase_I	Q9H1X3	DJC25_HUMAN			0	365	+			103			J.		Q5QTD8|Q96BN9	Frame_Shift_Del	DEL	ENST00000313525.3	37	c.309delG	CCDS43862.1																																																																																				0.741	DNAJC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000156218.3	NM_001015882		2	4						2	4	---	---	---	---
