#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	151	0	0	0	0.00116845	0	5	151				
ORAI2	80228	broad.mit.edu	37	7	102087367	102087367	+	Silent	SNP	C	C	T	rs144660402		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:102087367C>T	ENST00000356387.2	+	4	868	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000478730.2_Silent_p.F211F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	211						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCCTCATCTTCGTGGTCTTCA	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15618	0.0		0.001	False		,,,				2504	0.0					ENST00000356387.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(631-633)ttC>ttT		ORAI calcium release-activated calcium modulator 2		C	,	0,4406		0,0,2203	42.0	36.0	38.0		633,633	0.3	1.0	7	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ORAI2	NM_001126340.1,NM_032831.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	211/255,211/255	102087367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80228					integral to membrane	protein binding	g.chr7:102087367C>T	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"""ORAI calcium release-activated calcium modulators"""	21667	protein-coding gene	gene with protein product	"""CAP-binding protein complex interacting protein 2"""	610929	"""chromosome 7 open reading frame 19"", ""transmembrane protein 142B"""	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.633C>T	7.37:g.102087367C>T						ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000478730.1_Silent_p.F211F	p.F211F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN			4	868	+			211					Q6IA68|Q8WY94|Q9H9Y3	Silent	SNP	ENST00000356387.2	37	c.633C>T	CCDS5722.1																																																																																				0.667	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		6	36	0	0	0	0.00116845	0	6	36				
TMEM8A	58986	broad.mit.edu	37	16	426140	426140	+	Missense_Mutation	SNP	T	T	C	rs575758267		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:426140T>C	ENST00000431232.2	-	6	1380	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S	TMEM8A_ENST00000476735.1_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.N214S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	407					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGTACCTTGTTGGCCCGCAG	0.682													T|||	0	0.0	0.0	0.0	5008	,	,		16441	0.0		0.0	False		,,,				2504	0.0					ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(1219-1221)aAc>aGc		transmembrane protein 8A							40.0	37.0	38.0					16																	426140		2199	4299	6498	SO:0001583	missense	58986				cell adhesion	integral to plasma membrane		g.chr16:426140T>C	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1220A>G	16.37:g.426140T>C	ENSP00000401338:p.Asn407Ser					TMEM8A_ENST00000250930.3_Missense_Mutation_p.N214S	p.N407S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			6	1380	-			407					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	c.1220A>G	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.347797	0.61183	.	.	ENSG00000129925	ENST00000431232;ENST00000250930	T;T	0.34667	1.79;1.35	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	T	0.54303	0.1850	M	0.80746	2.51	0.80722	D	1	D	0.67145	0.996	P	0.54210	0.745	T	0.63097	-0.6713	10	0.72032	D	0.01	-11.803	14.6721	0.68951	0.0:0.0:0.0:1.0	.	407	Q9HCN3	TMM8A_HUMAN	S	407;214	ENSP00000401338:N407S;ENSP00000250930:N214S	ENSP00000250930:N214S	N	-	2	0	TMEM8A	366141	1.000000	0.71417	0.978000	0.43139	0.078000	0.17371	4.400000	0.59709	2.054000	0.61138	0.533000	0.62120	AAC		0.682	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		4	24	0	0	0	0.00024832	0	4	24				
PCDHGA10	56106	broad.mit.edu	37	5	140795088	140795088	+	Silent	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:140795088G>A	ENST00000398610.2	+	1	2346	c.2346G>A	c.(2344-2346)acG>acA	p.T782T	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	782					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACACGCTCATCAGCC	0.507																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2344-2346)acG>acA									96.0	104.0	101.0					5																	140795088		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140795088G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2346G>A	5.37:g.140795088G>A						PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron	p.T782T	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2346	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.2346G>A	CCDS47292.1																																																																																				0.507	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		18	122	0	0	0	0.00121646	0	18	122				
SYNGR2	9144	broad.mit.edu	37	17	76168029	76168029	+	3'UTR	SNP	C	C	T	rs376747192		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:76168029C>T	ENST00000225777.3	+	0	746				SYNGR2_ENST00000588282.1_Missense_Mutation_p.A259V|SYNGR2_ENST00000585591.1_Intron|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000590201.1_3'UTR			O43760	SNG2_HUMAN	synaptogyrin 2						protein targeting (GO:0006605)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			CGGCGGTTAGCGTGGGAAGGG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16415	0.0		0.001	False		,,,				2504	0.0					ENST00000588282.1																			0				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7						c.(775-777)gCg>gTg		synaptogyrin 2		G		0,4406		0,0,2203	46.0	44.0	45.0			-8.4	0.0	17		45	2,8594		0,2,4296	no	utr-3	SYNGR2	NM_004710.3		0,2,6499	TT,TC,CC		0.0233,0.0,0.0154			76168029	2,13000	2203	4298	6501	SO:0001624	3_prime_UTR_variant	9144					integral to plasma membrane		g.chr17:76168029C>T	AJ002308	CCDS11753.1	17q25.3	2014-09-11			ENSG00000108639	ENSG00000108639			11499	protein-coding gene	gene with protein product	"""cellugyrin"""	603926				9760194	Standard	NM_004710		Approved		uc002juu.1	O43760	OTTHUMG00000177457	ENST00000225777.3:c.*12C>T	17.37:g.76168029C>T						SYNGR2_ENST00000590201.1_3'UTR|SYNGR2_ENST00000225777.3_3'UTR|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000585591.1_Intron	p.A259V	NM_004710.3	NP_004701.1	O43760	SNG2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)		3	782	+			0					O43762|Q3KQZ2|Q658S7	Missense_Mutation	SNP	ENST00000225777.3	37	c.776C>T	CCDS11753.1																																																																																				0.632	SYNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437009.2			11	75	0	0	0	0.000673444	0	11	75				
ZNF3	7551	broad.mit.edu	37	7	99669788	99669788	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:99669788T>C	ENST00000424697.1	-	6	625	c.319A>G	c.(319-321)Aga>Gga	p.R107G	ZNF3_ENST00000303915.6_Missense_Mutation_p.R107G|ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	107	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCATGTGATCTTGTGTCTTCA	0.403																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(319-321)Aga>Gga		zinc finger protein 3							111.0	100.0	103.0					7																	99669788		1844	4087	5931	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669788T>C	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.319A>G	7.37:g.99669788T>C	ENSP00000415358:p.Arg107Gly					ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000424697.1_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron	p.R107G			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1286	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	107			KRAB.		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.319A>G	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	T	6.168	0.399195	0.11696	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683;ENST00000441298	T;T;T;T;T;T;T	0.06849	3.25;3.25;3.25;5.12;5.25;5.25;5.07	5.01	4.12	0.48240	Krueppel-associated box (2);	0.389409	0.22188	N	0.063419	T	0.03959	0.0111	N	0.04132	-0.27	0.22961	N	0.998506	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42155	-0.9468	10	0.21540	T	0.41	-10.2609	10.4537	0.44537	0.0:0.9028:0.0:0.0972	.	90;107	B3KRP4;P17036	.;ZNF3_HUMAN	G	107;107;107;71;107;107;71	ENSP00000415358:R107G;ENSP00000306372:R107G;ENSP00000299667:R107G;ENSP00000416088:R71G;ENSP00000405970:R107G;ENSP00000388042:R107G;ENSP00000394113:R71G	ENSP00000299667:R107G	R	-	1	2	ZNF3	99507724	0.001000	0.12720	0.847000	0.33407	0.829000	0.46940	0.971000	0.29396	1.323000	0.45263	-0.415000	0.06103	AGA		0.403	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		16	81	0	0	0	0.00074312	0	16	81				
CRMP1	1400	broad.mit.edu	37	4	5862782	5862782	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:5862782G>A	ENST00000397890.2	-	3	498	c.284C>T	c.(283-285)gCg>gTg	p.A95V	CRMP1_ENST00000324989.7_Missense_Mutation_p.A209V|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.A93V	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	95					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CACCAGTGCCGCCCTGGTCCC	0.582																																						ENST00000324989.7																			0				NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(625-627)gCg>gTg		collapsin response mediator protein 1							95.0	89.0	91.0					4																	5862782		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5862782G>A	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.284C>T	4.37:g.5862782G>A	ENSP00000380987:p.Ala95Val					CRMP1_ENST00000397890.2_Missense_Mutation_p.A95V|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.A93V	p.A209V	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	3	714	-			95					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.626C>T	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776732	0.90195	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.93547	-3.24;-3.24;-3.24	4.37	4.37	0.52481	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.97539	0.9194	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.979;0.991;0.991	D	0.98797	1.0738	10	0.87932	D	0	-12.6767	16.0708	0.80928	0.0:0.0:1.0:0.0	.	209;93;95	A0EJG6;E9PD68;Q14194	.;.;DPYL1_HUMAN	V	209;95;95;93	ENSP00000321606:A209V;ENSP00000380987:A95V;ENSP00000425742:A93V	ENSP00000321606:A209V	A	-	2	0	CRMP1	5913683	1.000000	0.71417	0.113000	0.21522	0.866000	0.49608	8.981000	0.93465	2.251000	0.74343	0.561000	0.74099	GCG		0.582	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		12	48	0	0	0	0.00244969	0	12	48				
CD46	4179	broad.mit.edu	37	1	207940420	207940420	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:207940420T>A	ENST00000358170.2	+	6	892	c.736T>A	c.(736-738)Ttt>Att	p.F246I	CD46_ENST00000357714.1_Missense_Mutation_p.F246I|CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000354848.1_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000480003.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	246	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGGAAAAAAATTTTACTACAA	0.378																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(736-738)Ttt>Att		CD46 molecule, complement regulatory protein							71.0	72.0	72.0					1																	207940420		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207940420T>A	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.736T>A	1.37:g.207940420T>A	ENSP00000350893:p.Phe246Ile					CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000354848.1_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000357714.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I|CD46_ENST00000480003.1_Missense_Mutation_p.F246I	p.F246I	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			6	892	+			246			Sushi 4.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.736T>A	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928559	0.73327	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.14	2.87	0.33458	Complement control module (2);Sushi/SCR/CCP (3);	1.180340	0.06338	N	0.707414	D	0.82701	0.5094	M	0.86502	2.82	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.998;0.997;0.999;1.0;0.999;1.0;0.999;0.996;0.996;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.99;0.958;0.977;0.985;0.942;0.991;0.99;0.986;0.985;0.999;0.985;0.987;0.987;0.995	T	0.60177	-0.7314	10	0.87932	D	0	.	5.9807	0.19405	0.0:0.1973:0.0:0.8027	.	246;246;246;246;246;246;246;246;246;246;246;246;246;246	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	I	246;246;246;246;246;246;246;183;246;246;246;246	ENSP00000350893:F246I;ENSP00000346912:F246I;ENSP00000314664:F246I;ENSP00000356009:F246I;ENSP00000356008:F246I;ENSP00000350346:F246I;ENSP00000313875:F246I;ENSP00000356014:F183I;ENSP00000413543:F246I;ENSP00000354358:F246I;ENSP00000353342:F246I;ENSP00000418471:F246I	ENSP00000313875:F246I	F	+	1	0	CD46	206007043	0.001000	0.12720	0.001000	0.08648	0.287000	0.27160	0.935000	0.28924	1.089000	0.41292	0.533000	0.62120	TTT		0.378	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		10	45	0	0	0	0.000673444	0	10	45				
NLRC5	84166	broad.mit.edu	37	16	57116361	57116361	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr16:57116361C>T	ENST00000262510.6	+	49	5747	c.5522C>T	c.(5521-5523)gCc>gTc	p.A1841V	NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812V|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1841					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCGACATGGCCCAGCACCTG	0.567																																						ENST00000262510.6																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(5521-5523)gCc>gTc		NLR family, CARD domain containing 5							106.0	94.0	98.0					16																	57116361		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57116361C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5522C>T	16.37:g.57116361C>T	ENSP00000262510:p.Ala1841Val					NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812V|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812V|NLRC5_ENST00000436936.1_3'UTR	p.A1841V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN			49	5747	+		all_neural(199;0.225)	1841					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.5522C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.954146	0.34471	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.52295	0.67;0.67;0.67	4.47	1.33	0.21861	.	0.898467	0.09038	N	0.857661	T	0.42291	0.1196	M	0.64630	1.985	0.58432	D	0.999999	B	0.29508	0.246	B	0.28305	0.088	T	0.16012	-1.0417	10	0.34782	T	0.22	.	6.4729	0.22018	0.0:0.6635:0.0:0.3365	.	1841	Q86WI3	NLRC5_HUMAN	V	1841;1812;1812	ENSP00000262510:A1841V;ENSP00000308886:A1812V;ENSP00000441727:A1812V	ENSP00000262510:A1841V	A	+	2	0	NLRC5	55673862	0.996000	0.38824	0.687000	0.30102	0.008000	0.06430	0.459000	0.21908	0.083000	0.17047	-0.213000	0.12676	GCC		0.567	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		12	62	0	0	0	0.000958276	0	12	62				
FBXW11	23291	broad.mit.edu	37	5	171318481	171318481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:171318481T>C	ENST00000265094.5	-	6	916	c.779A>G	c.(778-780)aAt>aGt	p.N260S	FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Missense_Mutation_p.N247S	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	260					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTAATAGAATTATCTCGTAG	0.348																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(739-741)aAt>aGt		F-box and WD repeat domain containing 11							64.0	63.0	63.0					5																	171318481		2203	4299	6502	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171318481T>C	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.779A>G	5.37:g.171318481T>C	ENSP00000265094:p.Asn260Ser					FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000265094.5_Missense_Mutation_p.N260S|FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S	p.N247S	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		6	1110	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	260					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.740A>G	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.898370	0.52227	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.61040	1.3;0.14;1.3;1.3	4.95	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.39514	1.22	0.80722	D	1	B;B;B;B	0.28208	0.063;0.099;0.203;0.051	B;B;B;B	0.23574	0.008;0.019;0.047;0.011	T	0.53208	-0.8471	10	0.72032	D	0.01	-19.0506	14.5654	0.68171	0.0:0.0:0.0:1.0	.	228;226;260;247	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	S	247;260;226;228	ENSP00000296933:N247S;ENSP00000265094:N260S;ENSP00000377391:N226S;ENSP00000444929:N228S	ENSP00000265094:N260S	N	-	2	0	FBXW11	171251086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.886000	0.87288	1.991000	0.58162	0.477000	0.44152	AAT		0.348	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		7	44	0	0	0	0.000274275	0	7	44				
NBPF10	100132406	broad.mit.edu	37	1	145328417	145328417	+	Missense_Mutation	SNP	A	A	G	rs587687982	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:145328417A>G	ENST00000342960.5	+	33	4300	c.4265A>G	c.(4264-4266)gAc>gGc	p.D1422G	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	763						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAAGACCAAGACCCACCATGC	0.458													.|||	607	0.121206	0.1233	0.1744	5008	,	,		9720	0.1944		0.0636	False		,,,				2504	0.0644					ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(4264-4266)gAc>gGc		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145328417A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.4265A>G	1.37:g.145328417A>G	ENSP00000345684:p.Asp1422Gly					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.D1422G	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	33	4300	+	all_hematologic(923;0.032)		1422					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.4265A>G	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.015	-1.565282	0.00903	.	.	ENSG00000163386	ENST00000342960	T	0.05717	3.4	.	.	.	.	.	.	.	.	T	0.00666	0.0022	N	0.03115	-0.41	0.09310	N	1	.	.	.	.	.	.	T	0.46091	-0.9216	5	0.17369	T	0.5	.	.	.	.	.	.	.	.	G	1422	ENSP00000345684:D1422G	ENSP00000345684:D1422G	D	+	2	0	NBPF10	144039774	0.001000	0.12720	0.022000	0.16811	0.513000	0.34164	-0.743000	0.04845	0.000000	0.14550	0.000000	0.15137	GAC		0.458	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	62	0	0	0	6.4e-05	0	3	62				
RAB5C	5878	broad.mit.edu	37	17	40280784	40280784	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:40280784G>T	ENST00000346213.4	-	3	413	c.201C>A	c.(199-201)gaC>gaA	p.D67E	RAB5C_ENST00000393860.3_Missense_Mutation_p.D67E|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E|RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	67					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGACTGTTGTGTCATCCAGGC	0.577																																						ENST00000393860.3																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(199-201)gaC>gaA		RAB5C, member RAS oncogene family							84.0	75.0	78.0					17																	40280784		2203	4300	6503	SO:0001583	missense	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40280784G>T	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"""RAB, member RAS oncogene"""	9785	protein-coding gene	gene with protein product	"""RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family"""	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.201C>A	17.37:g.40280784G>T	ENSP00000345689:p.Asp67Glu					RAB5C_ENST00000346213.4_Missense_Mutation_p.D67E|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E|RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E	p.D67E	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	4	517	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	67					F8W1H5|Q6FH55|Q9P0Y5	Missense_Mutation	SNP	ENST00000346213.4	37	c.201C>A	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017374	0.35606	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517;ENST00000552162;ENST00000550504;ENST00000550406	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-0.5;-1.39	5.17	3.16	0.36331	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	L	0.41236	1.265	0.49915	D	0.999832	B;B	0.28801	0.005;0.223	B;B	0.24269	0.025;0.052	T	0.62854	-0.6766	10	0.33141	T	0.24	-31.9017	9.4373	0.38646	0.2117:0.0:0.7883:0.0	.	100;67	F8W1H5;P51148	.;RAB5C_HUMAN	E	67;67;100;67;67;67	ENSP00000345689:D67E;ENSP00000377440:D67E;ENSP00000447053:D100E;ENSP00000449612:D67E;ENSP00000449777:D67E;ENSP00000448314:D67E	ENSP00000345689:D67E	D	-	3	2	RAB5C	37534310	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.897000	0.48664	0.748000	0.32831	0.563000	0.77884	GAC		0.577	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		12	66	1	0	1.61879e-10	0.00136819	8.40636e-10	12	66				
IGKV3D-20	28874	broad.mit.edu	37	2	90078039	90078039	+	RNA	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:90078039C>T	ENST00000390270.2	+	0	173									immunoglobulin kappa variable 3D-20																		TGTGTTGACGCAGTCTCCAGC	0.502																																						ENST00000390270.2																			0																				91.0	91.0	91.0					2																	90078039		1879	4113	5992			0							g.chr2:90078039C>T	X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90078039C>T														0	173	+									RNA	SNP	ENST00000390270.2	37																																																																																						0.502	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323287.1	NG_000833		24	110	0	0	0	0.00395357	0	24	110				
C17orf78	284099	broad.mit.edu	37	17	35736258	35736258	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:35736258C>G	ENST00000300618.4	+	3	379	c.329C>G	c.(328-330)tCc>tGc	p.S110C	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	110						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AGCTCTGCCTCCTCAAGCTGT	0.458																																						ENST00000300618.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(328-330)tCc>tGc		chromosome 17 open reading frame 78							114.0	112.0	113.0					17																	35736258		1928	4139	6067	SO:0001583	missense	284099					integral to membrane		g.chr17:35736258C>G	BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.329C>G	17.37:g.35736258C>G	ENSP00000300618:p.Ser110Cys					ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C	p.S110C	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN			3	379	+		Breast(25;0.00295)|Ovarian(249;0.15)	110					Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	c.329C>G	CCDS45655.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.310805	0.23821	.	.	ENSG00000167230	ENST00000300618;ENST00000321564	T	0.48836	0.8	4.68	0.185	0.15096	.	0.873895	0.09754	N	0.760192	T	0.42017	0.1184	L	0.32530	0.975	0.09310	N	1	D;D	0.57257	0.979;0.979	P;P	0.53313	0.723;0.723	T	0.31166	-0.9953	10	0.66056	D	0.02	-0.2037	2.2749	0.04100	0.3448:0.3879:0.168:0.0993	.	110;110	Q8N4C9-2;Q8N4C9	.;CQ078_HUMAN	C	110	ENSP00000300618:S110C	ENSP00000300618:S110C	S	+	2	0	C17orf78	32810371	0.000000	0.05858	0.102000	0.21198	0.808000	0.45660	0.322000	0.19576	0.549000	0.28973	0.655000	0.94253	TCC		0.458	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		6	136	0	0	0	0.00198382	0	6	136				
E2F3	1871	broad.mit.edu	37	6	20486928	20486928	+	Missense_Mutation	SNP	A	A	G	rs183255612		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:20486928A>G	ENST00000346618.3	+	5	959	c.893A>G	c.(892-894)tAt>tGt	p.Y298C	E2F3_ENST00000535432.1_Missense_Mutation_p.Y167C	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	298	Dimerization. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ACGTTAGCTTATGTTACATAT	0.333																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(892-894)tAt>tGt		E2F transcription factor 3							65.0	63.0	63.0					6																	20486928		2203	4300	6503	SO:0001583	missense	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20486928A>G	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.893A>G	6.37:g.20486928A>G	ENSP00000262904:p.Tyr298Cys					E2F3_ENST00000535432.1_Missense_Mutation_p.Y167C	p.Y298C	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		5	959	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		298			Dimerization (Potential).		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	c.893A>G	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390290	0.82902	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	D;D	0.96587	-4.06;-4.06	5.93	5.93	0.95920	.	0.110414	0.64402	D	0.000004	D	0.98232	0.9415	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.99387	1.0924	10	0.87932	D	0	.	16.3829	0.83481	1.0:0.0:0.0:0.0	.	298	O00716	E2F3_HUMAN	C	298;167	ENSP00000262904:Y298C;ENSP00000443418:Y167C	ENSP00000262904:Y298C	Y	+	2	0	E2F3	20594907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.271000	0.75665	0.459000	0.35465	TAT		0.333	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			7	44	0	0	0	0.00307968	0	7	44				
WDR33	55339	broad.mit.edu	37	2	128474753	128474753	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:128474753C>T	ENST00000322313.4	-	17	3003	c.2845G>A	c.(2845-2847)Gga>Aga	p.G949R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	949					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCCTTGTCCGGGGTTCAGA	0.478																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2845-2847)Gga>Aga		WD repeat domain 33							41.0	39.0	40.0					2																	128474753		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128474753C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2845G>A	2.37:g.128474753C>T	ENSP00000325377:p.Gly949Arg						p.G949R	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	17	3003	-	Colorectal(110;0.1)		949					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.2845G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390292	0.62066	.	.	ENSG00000136709	ENST00000322313	D	0.89617	-2.54	5.27	5.27	0.74061	.	0.000000	0.56097	D	0.000024	D	0.86768	0.6012	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83639	0.0149	10	0.13853	T	0.58	-10.4583	14.3903	0.66973	0.0:1.0:0.0:0.0	.	949	Q9C0J8	WDR33_HUMAN	R	949	ENSP00000325377:G949R	ENSP00000325377:G949R	G	-	1	0	WDR33	128191223	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	3.549000	0.53681	2.473000	0.83533	0.563000	0.77884	GGA		0.478	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		3	19	0	0	0	6.4e-05	0	3	19				
C11orf87	399947	broad.mit.edu	37	11	109294695	109294695	+	Silent	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:109294695C>T	ENST00000327419.6	+	2	739	c.336C>T	c.(334-336)ggC>ggT	p.G112G	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	112						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCCGCGGTGGCGGGGGGCTGC	0.652																																						ENST00000327419.6																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(334-336)ggC>ggT		chromosome 11 open reading frame 87							54.0	60.0	58.0					11																	109294695		2199	4298	6497	SO:0001819	synonymous_variant	399947					integral to membrane		g.chr11:109294695C>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.336C>T	11.37:g.109294695C>T						RP11-708B6.2_ENST00000532929.1_RNA|RP11-708B6.2_ENST00000532992.1_RNA	p.G112G	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	739	+			112					B4E169	Silent	SNP	ENST00000327419.6	37	c.336C>T	CCDS31672.1																																																																																				0.652	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		5	86	0	0	0	0.00116845	0	5	86				
OR6C4	341418	broad.mit.edu	37	12	55945169	55945169	+	Silent	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:55945169C>G	ENST00000394256.2	+	1	187	c.159C>G	c.(157-159)ctC>ctG	p.L53L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ACCCCCACCTCCAGACCCCCA	0.418																																						ENST00000394256.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(157-159)ctC>ctG		olfactory receptor, family 6, subfamily C, member 4							170.0	172.0	171.0					12																	55945169		2202	4300	6502	SO:0001819	synonymous_variant	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945169C>G	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.159C>G	12.37:g.55945169C>G						RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	p.L53L	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN			1	187	+			53					A8MZG7|B2RNN2|Q6IFK1	Silent	SNP	ENST00000394256.2	37	c.159C>G	CCDS31827.1																																																																																				0.418	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			32	141	0	0	0	0.00428921	0	32	141				
ALDH2	217	broad.mit.edu	37	12	112237730	112237730	+	Silent	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:112237730G>A	ENST00000261733.2	+	11	1330	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	ALDH2_ENST00000416293.3_Silent_p.Q376Q	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	423					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CAGTGATGCAGATCCTGAAGT	0.552			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(1267-1269)caG>caA		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						67.0	60.0	62.0					12																	112237730		2203	4300	6503	SO:0001819	synonymous_variant	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112237730G>A	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.1269G>A	12.37:g.112237730G>A						ALDH2_ENST00000416293.3_Silent_p.Q376Q	p.Q423Q	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN			11	1330	+			423					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Silent	SNP	ENST00000261733.2	37	c.1269G>A	CCDS9155.1																																																																																				0.552	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		11	28	0	0	0	0.00185496	0	11	28				
SPOP	8405	broad.mit.edu	37	17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C	rs193920894		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:47696643A>C	ENST00000393328.2	-	5	670	c.305T>G	c.(304-306)tTc>tGc	p.F102C	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000393331.3_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.F102C(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)tTc>tGc		speckle-type POZ protein							147.0	136.0	140.0					17																	47696643		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696643A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.305T>G	17.37:g.47696643A>C	ENSP00000377001:p.Phe102Cys	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C	p.F102C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	775	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.305T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374920	0.82573	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84153	0.0424	10	0.56958	D	0.05	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	C	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102C;ENSP00000377004:F102C;ENSP00000240327:F102C;ENSP00000425905:F102C;ENSP00000420908:F102C;ENSP00000426986:F102C;ENSP00000420960:F102C;ENSP00000426262:F102C;ENSP00000424119:F102C;ENSP00000426537:F102C	ENSP00000240327:F102C	F	-	2	0	SPOP	45051642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		15	79	0	0	0	0.000566183	0	15	79				
DNAH7	56171	broad.mit.edu	37	2	196737068	196737068	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:196737068A>C	ENST00000312428.6	-	40	6639	c.6539T>G	c.(6538-6540)cTc>cGc	p.L2180R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2180	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAATCACGGAGGTTGAACAA	0.398																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6538-6540)cTc>cGc		dynein, axonemal, heavy chain 7							169.0	156.0	160.0					2																	196737068		1863	4099	5962	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196737068A>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6539T>G	2.37:g.196737068A>C	ENSP00000311273:p.Leu2180Arg						p.L2180R	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			40	6639	-			2180			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6539T>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339614	0.81911	.	.	ENSG00000118997	ENST00000312428	T	0.53423	0.62	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.82263	0.4999	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89953	0.4081	10	0.87932	D	0	.	13.973	0.64252	1.0:0.0:0.0:0.0	.	2180	Q8WXX0	DYH7_HUMAN	R	2180	ENSP00000311273:L2180R	ENSP00000311273:L2180R	L	-	2	0	DNAH7	196445313	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.010000	0.93611	2.029000	0.59856	0.528000	0.53228	CTC		0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		3	96	0	0	0	6.4e-05	0	3	96				
CNTNAP3B	728577	broad.mit.edu	37	9	43915893	43915893	+	Missense_Mutation	SNP	G	G	C	rs62538181|rs200215881		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:43915893G>C	ENST00000377564.3	+	23	4134	c.3741G>C	c.(3739-3741)atG>atC	p.M1247I		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	1247					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGCTGTCATGGGAGGTAACA	0.433																																						ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(3739-3741)atG>atC		contactin associated protein-like 3B																																				SO:0001583	missense	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43915893G>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.3741G>C	9.37:g.43915893G>C	ENSP00000366787:p.Met1247Ile						p.M1247I	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			23	4134	+			1247					B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	ENST00000377564.3	37	c.3741G>C	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614036	0.03690	.	.	ENSG00000154529	ENST00000377564;ENST00000377555	T	0.23552	1.9	2.87	-2.82	0.05787	.	.	.	.	.	T	0.03053	0.0090	N	0.00018	-2.82	0.09310	P	0.9999999999977237	B	0.02656	0.0	B	0.01281	0.0	T	0.44267	-0.9339	8	0.11794	T	0.64	.	7.2283	0.26028	0.0:0.1691:0.1448:0.6861	.	161	E9PBG0	.	I	1247;161	ENSP00000366787:M1247I	ENSP00000366778:M161I	M	+	3	0	CNTNAP3B	43855889	0.990000	0.36364	0.901000	0.35422	0.347000	0.29111	0.022000	0.13511	-1.052000	0.03222	-2.091000	0.00372	ATG		0.433	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			3	53	0	0	0	6.4e-05	0	3	53				
P2RY14	9934	broad.mit.edu	37	3	150931786	150931786	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:150931786C>T	ENST00000309170.3	-	3	631	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.V107I|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	107					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAATGCTGACGTACATGTTG	0.453																																						ENST00000309170.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20						c.(319-321)Gtc>Atc		purinergic receptor P2Y, G-protein coupled, 14							74.0	64.0	67.0					3																	150931786		2203	4300	6503	SO:0001583	missense	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931786C>T	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.319G>A	3.37:g.150931786C>T	ENSP00000308361:p.Val107Ile					MED12L_ENST00000273432.4_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.V107I|MED12L_ENST00000474524.1_Intron	p.V107I	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	631	-			107					Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	c.319G>A	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	C	5.579	0.291672	0.10567	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.72725	-0.68;-0.68	5.8	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.093881	0.42821	D	0.000657	T	0.41926	0.1180	N	0.03224	-0.385	0.31518	N	0.662732	B	0.27068	0.167	B	0.17722	0.019	T	0.43442	-0.9391	10	0.48119	T	0.1	-40.3576	5.5463	0.17065	0.0:0.7385:0.0:0.2615	.	107	Q15391	P2Y14_HUMAN	I	107	ENSP00000308361:V107I;ENSP00000408733:V107I	ENSP00000308361:V107I	V	-	1	0	P2RY14	152414476	0.171000	0.23029	0.984000	0.44739	0.976000	0.68499	1.005000	0.29834	2.732000	0.93576	0.650000	0.86243	GTC		0.453	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		8	39	0	0	0	0.000274275	0	8	39				
AGAP3	116988	broad.mit.edu	37	7	150839292	150839292	+	Missense_Mutation	SNP	G	G	A	rs199958692		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:150839292G>A	ENST00000463381.1	+	13	1505	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	AGAP3_ENST00000397238.2_Missense_Mutation_p.V668I	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	632	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTGCAGGCCGTCCGCACCGT	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18505	0.0		0.001	False		,,,				2504	0.0					ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2002-2004)Gtc>Atc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3		G	ILE/VAL	0,4222		0,0,2111	122.0	132.0	128.0		2002	4.9	1.0	7		128	4,8450		0,4,4223	yes	missense	AGAP3	NM_031946.4	29	0,4,6334	AA,AG,GG		0.0473,0.0,0.0316	benign	668/912	150839292	4,12672	2111	4227	6338	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150839292G>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1009G>A	7.37:g.150839292G>A	ENSP00000418016:p.Val337Ile					AGAP3_ENST00000463381.1_Missense_Mutation_p.V337I	p.V668I	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			15	2002	+			632			Arf-GAP.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2002G>A		.	.	.	.	.	.	.	.	.	.	G	0.606	-0.827098	0.02734	0.0	4.73E-4	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	T;T	0.41065	1.01;1.01	4.87	4.87	0.63330	.	0.356142	0.29980	N	0.010708	T	0.12561	0.0305	N	0.00991	-1.07	0.80722	D	1	B;B;B;B	0.21905	0.016;0.062;0.005;0.006	B;B;B;B	0.21917	0.029;0.037;0.003;0.002	T	0.28106	-1.0054	10	0.02654	T	1	.	8.4175	0.32681	0.0837:0.1565:0.7598:0.0	.	632;167;668;337	Q96P47;E7ETI2;Q96P47-4;B3KNZ8	AGAP3_HUMAN;.;.;.	I	337;167;668;632	ENSP00000418016:V337I;ENSP00000380413:V668I	ENSP00000334157:V632I	V	+	1	0	AGAP3	150470225	0.982000	0.34865	0.960000	0.40013	0.232000	0.25224	2.112000	0.41892	2.403000	0.81681	0.655000	0.94253	GTC		0.622	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		42	202	0	0	0	0.00361006	0	42	202				
HFM1	164045	broad.mit.edu	37	1	91851252	91851252	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:91851252T>C	ENST00000370425.3	-	5	732	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	212					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TACTGAAATTTTTGCTTACTA	0.343																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(634-636)Aaa>Gaa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							97.0	92.0	94.0					1																	91851252		2203	4300	6503	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91851252T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.634A>G	1.37:g.91851252T>C	ENSP00000359454:p.Lys212Glu					HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	p.K212E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	5	732	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	212					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.634A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	9.387	1.074579	0.20227	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819;ENST00000427444	T;T	0.60672	0.17;0.56	5.93	4.82	0.62117	.	1.807140	0.06235	U	0.689455	T	0.26629	0.0651	L	0.50333	1.59	0.20196	N	0.999928	P;P	0.48764	0.844;0.915	B;B	0.39465	0.23;0.3	T	0.16041	-1.0416	10	0.06365	T	0.9	.	8.1545	0.31160	0.0:0.1396:0.0:0.8604	.	212;212	B7ZM16;A2PYH4	.;HFM1_HUMAN	E	212;245;71;170	ENSP00000359454:K212E;ENSP00000388900:K170E	ENSP00000359454:K212E	K	-	1	0	HFM1	91623840	0.784000	0.28713	0.058000	0.19502	0.009000	0.06853	1.073000	0.30691	2.281000	0.76405	0.533000	0.62120	AAA		0.343	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		7	43	0	0	0	0.00307968	0	7	43				
N4BP2	55728	broad.mit.edu	37	4	40119567	40119567	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:40119567A>G	ENST00000261435.6	+	8	2159	c.1743A>G	c.(1741-1743)atA>atG	p.I581M		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	581					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CAGTGCCAATAATTATGAGTT	0.358																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1741-1743)atA>atG		NEDD4 binding protein 2							118.0	109.0	112.0					4																	40119567		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40119567A>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1743A>G	4.37:g.40119567A>G	ENSP00000261435:p.Ile581Met						p.I581M	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			8	2159	+			581					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.1743A>G	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.07|11.07	1.529178|1.529178	0.27387|0.27387	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.18960|.	2.18|.	5.44|5.44	-0.577|-0.577	0.11727|0.11727	.|.	0.351137|.	0.31268|.	N|.	0.007941|.	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.38175|0.38175	1.15|1.15	0.22156|0.22156	N|N	0.999321|0.999321	D;D|.	0.71674|.	0.998;0.996|.	P;P|.	0.62560|.	0.904;0.804|.	T|T	0.29912|0.29912	-0.9996|-0.9996	10|5	0.56958|.	D|.	0.05|.	-19.1776|-19.1776	5.6704|5.6704	0.17719|0.17719	0.4276:0.4097:0.0673:0.0954|0.4276:0.4097:0.0673:0.0954	.|.	581;581|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	M|D	581;501|228	ENSP00000261435:I581M|.	ENSP00000261435:I581M|.	I|N	+|+	3|1	3|0	N4BP2|N4BP2	39795962|39795962	0.992000|0.992000	0.36948|0.36948	0.998000|0.998000	0.56505|0.56505	0.272000|0.272000	0.26649|0.26649	0.583000|0.583000	0.23849|0.23849	0.039000|0.039000	0.15632|0.15632	-2.545000|-2.545000	0.00179|0.00179	ATA|AAT		0.358	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		17	51	0	0	0	0.000566183	0	17	51				
ZNF789	285989	broad.mit.edu	37	7	99079801	99079801	+	Intron	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:99079801A>C	ENST00000331410.5	+	4	421				ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_Intron|ZNF789_ENST00000483089.1_3'UTR|ZNF789_ENST00000379724.3_Missense_Mutation_p.D56A	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ttccagtttgatgctgcaata	0.378																																						ENST00000379724.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(166-168)gAt>gCt		zinc finger protein 789							125.0	111.0	116.0					7																	99079801		2203	4297	6500	SO:0001627	intron_variant	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99079801A>C	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.152-1852A>C	7.37:g.99079801A>C						ZNF789_ENST00000483089.1_3'UTR|ZNF789_ENST00000448667.1_Intron|ZNF789_ENST00000331410.5_Intron|ZNF789_ENST00000493485.1_Intron	p.D56A	NM_001013258.1	NP_001013276.1	Q5FWF6	ZN789_HUMAN			4	366	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		55			KRAB.		A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.167A>C	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	A	2.044	-0.419372	0.04766	.	.	ENSG00000198556	ENST00000379724	T	0.02085	4.46	.	.	.	.	.	.	.	.	T	0.01976	0.0062	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	6	0.56958	D	0.05	.	.	.	.	.	56	A6NH61	.	A	56	ENSP00000369047:D56A	ENSP00000369047:D56A	D	+	2	0	ZNF789	98917737	0.003000	0.15002	0.377000	0.26055	0.377000	0.30045	0.352000	0.20113	0.056000	0.16144	0.055000	0.15244	GAT		0.378	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		11	49	0	0	0	0.000978159	0	11	49				
ZNF398	57541	broad.mit.edu	37	7	148876421	148876421	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:148876421C>T	ENST00000475153.1	+	6	1724	c.1457C>T	c.(1456-1458)cCt>cTt	p.P486L	ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L|ZNF398_ENST00000420008.2_Missense_Mutation_p.P315L|ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L|ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L			Q8TD17	ZN398_HUMAN	zinc finger protein 398	486					positive regulation of transcription, DNA-templated (GO:0045893)|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)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TTCTCCTGCCCTCAGTGTGGC	0.612																																						ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(943-945)cCt>cTt		zinc finger protein 398							58.0	51.0	53.0					7																	148876421		2203	4300	6503	SO:0001583	missense	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148876421C>T	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1457C>T	7.37:g.148876421C>T	ENSP00000420418:p.Pro486Leu					ZNF398_ENST00000475153.1_Missense_Mutation_p.P486L|ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L|ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L	p.P315L	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1732	+	Melanoma(164;0.15)		486					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.944C>T	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900166	0.72754	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000116	T	0.33498	0.0865	L	0.43923	1.385	0.43924	D	0.996577	D;D	0.76494	0.987;0.999	P;D	0.72338	0.732;0.977	T	0.01202	-1.1420	10	0.35671	T	0.21	-17.5667	16.2021	0.82088	0.0:1.0:0.0:0.0	.	491;486	B4DXA9;Q8TD17	.;ZN398_HUMAN	L	315;315;486;315;315;491;315	ENSP00000389972:P315L;ENSP00000416751:P315L;ENSP00000420418:P486L;ENSP00000418564:P315L;ENSP00000419391:P315L;ENSP00000439340:P491L;ENSP00000338984:P315L	ENSP00000338984:P315L	P	+	2	0	ZNF398	148507354	0.000000	0.05858	0.997000	0.53966	0.997000	0.91878	0.574000	0.23714	2.418000	0.82041	0.650000	0.86243	CCT		0.612	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			12	61	0	0	0	0.00136819	0	12	61				
CELSR1	9620	broad.mit.edu	37	22	46930952	46930952	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr22:46930952C>T	ENST00000262738.3	-	1	2115	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.V706M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	706	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGGTCAGCACGCTGCTCCCC	0.627																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(2116-2118)Gtg>Atg		cadherin, EGF LAG seven-pass G-type receptor 1							50.0	32.0	38.0					22																	46930952		2202	4296	6498	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46930952C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2116G>A	22.37:g.46930952C>T	ENSP00000262738:p.Val706Met					CELSR1_ENST00000395964.1_Missense_Mutation_p.V706M	p.V706M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2115	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	706			Cadherin 5.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2116G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608103	0.66558	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.02050	4.48;4.48	4.51	4.51	0.55191	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	U	0.000017	T	0.22551	0.0544	H	0.96691	3.865	0.52501	D	0.999953	D	0.89917	1.0	D	0.97110	1.0	T	0.45041	-0.9288	10	0.87932	D	0	.	16.8582	0.86011	0.0:1.0:0.0:0.0	.	706	Q9NYQ6	CELR1_HUMAN	M	706	ENSP00000262738:V706M;ENSP00000379293:V706M	ENSP00000262738:V706M	V	-	1	0	CELSR1	45309616	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	7.522000	0.81844	2.067000	0.61834	0.305000	0.20034	GTG		0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		6	28	0	0	0	0.00307968	0	6	28				
ADPGK	83440	broad.mit.edu	37	15	73045050	73045050	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr15:73045050G>A	ENST00000311669.8	-	7	1216	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F	ADPGK_ENST00000567733.1_5'Flank|ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	376	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						ATCCTGGTGAGATCCGAGGCT	0.552																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(1123-1125)Ctc>Ttc		ADP-dependent glucokinase							88.0	86.0	86.0					15																	73045050		1999	4165	6164	SO:0001583	missense	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73045050G>A	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1123C>T	15.37:g.73045050G>A	ENSP00000312250:p.Leu375Phe					ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F	p.L375F	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			7	1216	-			376			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP	ENST00000311669.8	37	c.1123C>T	CCDS42057.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641641	0.87859	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000456471;ENST00000331065	T;T	0.58506	0.33;0.33	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.79964	0.4537	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.998	T	0.80103	-0.1522	10	0.59425	D	0.04	-30.886	20.5407	0.99260	0.0:0.0:1.0:0.0	.	318;376;375;101	B4DG35;Q9BRR6;Q9BRR6-2;Q9BRR6-4	.;ADPGK_HUMAN;.;.	F	375;295;101;254	ENSP00000312250:L375F;ENSP00000397694:L101F	ENSP00000312250:L375F	L	-	1	0	ADPGK	70832103	1.000000	0.71417	0.998000	0.56505	0.572000	0.35998	9.751000	0.98889	2.865000	0.98341	0.655000	0.94253	CTC		0.552	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		11	57	0	0	0	0.00185496	0	11	57				
FAM50B	26240	broad.mit.edu	37	6	3850540	3850540	+	Silent	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:3850540C>G	ENST00000380274.1	+	1	921	c.495C>G	c.(493-495)ctC>ctG	p.L165L	FAM50B_ENST00000380272.3_Silent_p.L165L			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	165						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGAACCGGCTCCGAGAGGAGC	0.687																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(493-495)ctC>ctG		family with sequence similarity 50, member B							27.0	29.0	28.0					6																	3850540		2200	4299	6499	SO:0001819	synonymous_variant	26240					nucleus		g.chr6:3850540C>G	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.495C>G	6.37:g.3850540C>G						FAM50B_ENST00000380272.3_Silent_p.L165L	p.L165L			Q9Y247	FA50B_HUMAN			1	921	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	165					Q5T2L6	Silent	SNP	ENST00000380274.1	37	c.495C>G	CCDS4487.1																																																																																				0.687	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		6	47	0	0	0	0.00116845	0	6	47				
NGB	58157	broad.mit.edu	37	14	77737232	77737232	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:77737232T>C	ENST00000298352.4	-	1	423	c.49A>G	c.(49-51)Agc>Ggc	p.S17G		NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	17	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		GGGCTGCGGCTCACTGCCCGC	0.746																																						ENST00000298352.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(49-51)Agc>Ggc		neuroglobin							7.0	7.0	7.0					14																	77737232		2116	4159	6275	SO:0001583	missense	58157					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr14:77737232T>C	AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.49A>G	14.37:g.77737232T>C	ENSP00000298352:p.Ser17Gly						p.S17G	NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)	1	423	-			17			Globin.			Missense_Mutation	SNP	ENST00000298352.4	37	c.49A>G	CCDS9856.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827877	0.32329	.	.	ENSG00000165553	ENST00000298352	D	0.93189	-3.18	4.43	4.43	0.53597	Globin-like (1);Globin, structural domain (1);	0.238021	0.49916	D	0.000136	D	0.85762	0.5772	N	0.15975	0.35	0.40222	D	0.977748	B	0.02656	0.0	B	0.04013	0.001	T	0.81373	-0.0962	10	0.24483	T	0.36	-22.387	12.9587	0.58444	0.0:0.0:0.0:1.0	.	17	Q9NPG2	NGB_HUMAN	G	17	ENSP00000298352:S17G	ENSP00000298352:S17G	S	-	1	0	NGB	76806985	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.632000	0.46511	1.757000	0.51966	0.459000	0.35465	AGC		0.746	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414194.1	NM_021257		2	5	0	0	0	6.4e-05	0	2	5				
TNXB	7148	broad.mit.edu	37	6	32037543	32037543	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:32037543C>T	ENST00000375244.3	-	15	5575	c.5374G>A	c.(5374-5376)Gtg>Atg	p.V1792M	TNXB_ENST00000375247.2_Missense_Mutation_p.V1792M			P22105	TENX_HUMAN	tenascin XB	1874	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGAGGCCCACGGAGTTCTGG	0.622																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5374-5376)Gtg>Atg		tenascin XB							23.0	26.0	25.0					6																	32037543		2011	4177	6188	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32037543C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5374G>A	6.37:g.32037543C>T	ENSP00000364393:p.Val1792Met					TNXB_ENST00000375247.2_Missense_Mutation_p.V1792M	p.V1792M			P22105	TENX_HUMAN			15	5575	-			1874			Fibronectin type-III 10.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5374G>A		.	.	.	.	.	.	.	.	.	.	C	20.7	4.030932	0.75504	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59772	0.24;0.24	5.5	5.5	0.81552	.	0.171276	0.28209	N	0.016189	T	0.64886	0.2639	L	0.58925	1.835	0.23984	N	0.996269	D	0.89917	1.0	D	0.91635	0.999	T	0.60105	-0.7328	10	0.48119	T	0.1	.	16.3129	0.82904	0.0:1.0:0.0:0.0	.	1792	P22105-3	.	M	1792	ENSP00000364393:V1792M;ENSP00000364396:V1792M	ENSP00000364393:V1792M	V	-	1	0	TNXB	32145521	0.074000	0.21230	0.994000	0.49952	0.992000	0.81027	0.677000	0.25262	2.598000	0.87819	0.591000	0.81541	GTG		0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		8	22	0	0	0	0.000274275	0	8	22				
LAMA1	284217	broad.mit.edu	37	18	6943285	6943285	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr18:6943285G>C	ENST00000389658.3	-	62	9054	c.8961C>G	c.(8959-8961)caC>caG	p.H2987Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2987	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAGTGATACGGTGTTTGCTTT	0.493																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8959-8961)caC>caG		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						312.0	247.0	269.0					18																	6943285		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6943285G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8961C>G	18.37:g.6943285G>C	ENSP00000374309:p.His2987Gln						p.H2987Q	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			62	9054	-		Colorectal(10;0.172)	2987			Laminin G-like 5.			Missense_Mutation	SNP	ENST00000389658.3	37	c.8961C>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247077	0.39697	.	.	ENSG00000101680	ENST00000389658	T	0.40476	1.03	5.73	2.92	0.33932	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.063724	0.64402	D	0.000016	T	0.54062	0.1835	L	0.54965	1.715	0.36009	D	0.837916	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.61850	-0.6978	10	0.72032	D	0.01	.	7.8622	0.29516	0.4589:0.0:0.5411:0.0	.	2987;317	P25391;B3KSD8	LAMA1_HUMAN;.	Q	2987	ENSP00000374309:H2987Q	ENSP00000374309:H2987Q	H	-	3	2	LAMA1	6933285	1.000000	0.71417	0.995000	0.50966	0.128000	0.20619	2.421000	0.44688	0.757000	0.33036	-0.214000	0.12660	CAC		0.493	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		5	137	0	0	0	0.00198382	0	5	137				
FAM120B	84498	broad.mit.edu	37	6	170639606	170639606	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:170639606A>T	ENST00000476287.1	+	4	2093	c.1985A>T	c.(1984-1986)gAc>gTc	p.D662V	FAM120B_ENST00000252510.9_5'UTR|MIR4644_ENST00000579929.1_RNA|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685V|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674V	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	662					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGGCACCCGGACCTCGTCAGG	0.483																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1984-1986)gAc>gTc		family with sequence similarity 120B							128.0	118.0	121.0					6																	170639606		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170639606A>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1985A>T	6.37:g.170639606A>T	ENSP00000417970:p.Asp662Val					FAM120B_ENST00000540480.1_Missense_Mutation_p.D674V|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685V|FAM120B_ENST00000252510.9_5'UTR	p.D662V	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	4	2093	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	662					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1985A>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205110	0.79127	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.40756	1.02;1.02;1.02	4.96	4.96	0.65561	.	0.228799	0.46145	D	0.000315	T	0.51719	0.1691	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	T	0.58346	-0.7652	10	0.87932	D	0	-30.33	12.8936	0.58087	1.0:0.0:0.0:0.0	.	662;662	Q96EK7;F2Z2E1	F120B_HUMAN;.	V	674;685;662	ENSP00000444125:D674V;ENSP00000440125:D685V;ENSP00000417970:D662V	ENSP00000436640:D662V	D	+	2	0	FAM120B	170481531	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.643000	0.67895	1.866000	0.54105	0.533000	0.62120	GAC		0.483	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		9	83	0	0	0	0.000978159	0	9	83				
KMT2C	58508	broad.mit.edu	37	7	151879331	151879331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:151879331G>A	ENST00000262189.6	-	36	5832	c.5614C>T	c.(5614-5616)Cag>Tag	p.Q1872*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1872*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1872	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGAGAAGTCTGAGCCTGAGAA	0.512																																						ENST00000355193.2																			0											c.(5614-5616)Cag>Tag		lysine (K)-specific methyltransferase 2C							86.0	88.0	87.0					7																	151879331		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151879331G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5614C>T	7.37:g.151879331G>A	ENSP00000262189:p.Gln1872*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1872*	p.Q1872*							36	5832	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.5614C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	48	13.956177	0.99772	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.41	5.41	0.78517	.	0.000000	0.42821	D	0.000647	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	19.1888	0.93654	0.0:0.0:1.0:0.0	.	.	.	.	X	1872	.	ENSP00000262189:Q1872X	Q	-	1	0	MLL3	151510264	1.000000	0.71417	0.247000	0.24249	0.837000	0.47467	6.700000	0.74619	2.540000	0.85666	0.563000	0.77884	CAG		0.512	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			27	122	0	0	0	0.00395357	0	27	122				
FCRL3	115352	broad.mit.edu	37	1	157648602	157648602	+	Silent	SNP	G	G	A	rs148976786	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:157648602G>A	ENST00000368184.3	-	15	2394	c.2103C>T	c.(2101-2103)gaC>gaT	p.D701D	FCRL3_ENST00000368186.5_Silent_p.D701D|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	701						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTGCAGAGTCGTCTGGGTGTG	0.468													A|||	11	0.00219649	0.0083	0.0	5008	,	,		20558	0.0		0.0	False		,,,				2504	0.0					ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(2101-2103)gaC>gaT		Fc receptor-like 3		A		23,4383	824.2+/-416.5	0,23,2180	117.0	105.0	109.0		2103	-1.3	0.0	1	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	FCRL3	NM_052939.3		0,23,6480	AA,AG,GG		0.0,0.522,0.1768		701/735	157648602	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157648602G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.2103C>T	1.37:g.157648602G>A						FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.D701D	p.D701D	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			15	2394	-	all_hematologic(112;0.0378)		701					A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.2103C>T	CCDS1167.1																																																																																				0.468	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		8	51	0	0	0	0.00307968	0	8	51				
LONRF2	164832	broad.mit.edu	37	2	100916210	100916210	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr2:100916210G>C	ENST00000393437.3	-	5	1875	c.1236C>G	c.(1234-1236)gaC>gaG	p.D412E	LONRF2_ENST00000409647.1_Missense_Mutation_p.D169E	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	412							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GGGCGTTCAGGTCAGGTGCAT	0.448																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1234-1236)gaC>gaG		LON peptidase N-terminal domain and ring finger 2							87.0	85.0	86.0					2																	100916210		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100916210G>C	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1236C>G	2.37:g.100916210G>C	ENSP00000377086:p.Asp412Glu					LONRF2_ENST00000409647.1_Missense_Mutation_p.D169E	p.D412E	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			5	1875	-			412					B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1236C>G	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	G	7.285	0.609926	0.14066	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.84730	-1.7;-1.89	4.49	-1.58	0.08479	.	1.404240	0.04235	N	0.335975	T	0.75102	0.3804	L	0.47716	1.5	0.09310	N	1	B	0.25563	0.129	B	0.20184	0.028	T	0.58200	-0.7678	10	0.02654	T	1	-12.1851	5.5035	0.16840	0.3434:0.0:0.4834:0.1731	.	412	Q1L5Z9	LONF2_HUMAN	E	412;169	ENSP00000377086:D412E;ENSP00000386823:D169E	ENSP00000377086:D412E	D	-	3	2	LONRF2	100282642	0.000000	0.05858	0.000000	0.03702	0.414000	0.31173	-0.298000	0.08265	-0.227000	0.09884	0.555000	0.69702	GAC		0.448	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		9	94	0	0	0	0.000673444	0	9	94				
NPBWR2	2832	broad.mit.edu	37	20	62737951	62737951	+	Silent	SNP	C	C	T	rs142068571		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr20:62737951C>T	ENST00000369768.1	-	1	573	c.234G>A	c.(232-234)acG>acA	p.T78T		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	78					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGTTGGTCACCGTCTTCATCT	0.617																																						ENST00000369768.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(232-234)acG>acA		neuropeptides B/W receptor 2		C		1,4401	2.1+/-5.4	0,1,2200	68.0	56.0	60.0		234	-7.5	0.0	20	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	NPBWR2	NM_005286.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		78/334	62737951	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737951C>T	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.234G>A	20.37:g.62737951C>T							p.T78T	NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN			1	573	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		78					Q6NWQ6|Q9H4K3	Silent	SNP	ENST00000369768.1	37	c.234G>A	CCDS13557.1																																																																																				0.617	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		4	17	0	0	0	0.00024832	0	4	17				
ADAMTS2	9509	broad.mit.edu	37	5	178634552	178634552	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:178634552C>T	ENST00000251582.7	-	4	954	c.853G>A	c.(853-855)Gag>Aag	p.E285K	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E285K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	285	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|lung development (GO:0030324)|protein processing (GO:0016485)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGTACGTGCTCCTTCCCGTGG	0.637																																						ENST00000251582.7																			0				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72						c.(853-855)Gag>Aag		ADAM metallopeptidase with thrombospondin type 1 motif, 2							159.0	132.0	141.0					5																	178634552		2203	4300	6503	SO:0001583	missense	9509				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:178634552C>T	AJ003125	CCDS4444.1, CCDS34311.1	5q23-q24	2008-07-18	2005-08-19		ENSG00000087116	ENSG00000087116		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	218	protein-coding gene	gene with protein product	"""procollagen I N-proteinase"", ""procollagen N-endopeptidase"""	604539	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 2"""			10094461, 15373769	Standard	NM_014244		Approved	ADAMTS-3, hPCPNI, PCINP, ADAM-TS2, NPI	uc003mjw.3	O95450	OTTHUMG00000130915	ENST00000251582.7:c.853G>A	5.37:g.178634552C>T	ENSP00000251582:p.Glu285Lys					ADAMTS2_ENST00000274609.5_Missense_Mutation_p.E285K	p.E285K	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)	4	954	-	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	285			Peptidase M12B.			Missense_Mutation	SNP	ENST00000251582.7	37	c.853G>A	CCDS4444.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589655	0.86851	.	.	ENSG00000087116	ENST00000251582;ENST00000274609	D;D	0.86956	-2.19;-2.19	5.39	4.51	0.55191	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.51477	D	0.000090	D	0.90827	0.7119	L	0.51422	1.61	0.52501	D	0.999955	D;D	0.89917	0.998;1.0	D;D	0.91635	0.991;0.999	D	0.89548	0.3797	10	0.33141	T	0.24	.	14.8852	0.70564	0.1447:0.8553:0.0:0.0	.	285;285	O95450-2;O95450	.;ATS2_HUMAN	K	285	ENSP00000251582:E285K;ENSP00000274609:E285K	ENSP00000251582:E285K	E	-	1	0	ADAMTS2	178567158	1.000000	0.71417	0.985000	0.45067	0.925000	0.55904	7.582000	0.82546	1.398000	0.46701	0.561000	0.74099	GAG		0.637	ADAMTS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253507.1	NM_014244		9	128	0	0	0	0.000442599	0	9	128				
ZNF576	79177	broad.mit.edu	37	19	44103213	44103213	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr19:44103213A>C	ENST00000336564.4	+	3	470	c.316A>C	c.(316-318)Act>Cct	p.T106P	ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|IRGQ_ENST00000422989.1_5'Flank|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	106					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				GGTTGCAACCACTACTGCCCA	0.652																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(316-318)Act>Cct		zinc finger protein 576							114.0	94.0	101.0					19																	44103213		2203	4300	6503	SO:0001583	missense	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103213A>C	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.316A>C	19.37:g.44103213A>C	ENSP00000337852:p.Thr106Pro					SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P|ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|SRRM5_ENST00000526798.1_Intron	p.T106P	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	470	+		Prostate(69;0.0199)	106					Q9BU03	Missense_Mutation	SNP	ENST00000336564.4	37	c.316A>C	CCDS12625.1	.	.	.	.	.	.	.	.	.	.	A	3.172	-0.169878	0.06461	.	.	ENSG00000124444	ENST00000391965;ENST00000525771;ENST00000533118;ENST00000528387;ENST00000529930;ENST00000336564	T;T;T;T;T;T	0.01304	5.03;5.03;5.03;5.03;5.03;5.03	3.86	-2.19	0.07015	.	1.118350	0.06785	N	0.786062	T	0.01189	0.0039	N	0.13168	0.305	0.29673	N	0.842314	B	0.29909	0.261	B	0.26517	0.07	T	0.45264	-0.9273	10	0.62326	D	0.03	0.3315	9.532	0.39200	0.4178:0.0:0.5822:0.0	.	106	Q9H609	ZN576_HUMAN	P	106	ENSP00000375827:T106P;ENSP00000436182:T106P;ENSP00000435899:T106P;ENSP00000435934:T106P;ENSP00000435463:T106P;ENSP00000337852:T106P	ENSP00000337852:T106P	T	+	1	0	ZNF576	48795053	0.000000	0.05858	0.013000	0.15412	0.047000	0.14425	-0.266000	0.08631	-0.556000	0.06134	0.533000	0.62120	ACT		0.652	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		9	97	0	0	0	0.000274275	0	9	97				
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	G	C	rs369326402	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:195505836G>C	ENST00000463781.3	-	2	13074	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597																																						ENST00000463781.3																			10	Substitution - Missense(10)	p.H4205Q(10)	kidney(4)|prostate(3)|urinary_tract(2)|endometrium(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12613-12615)caC>caG		mucin 4, cell surface associated							15.0	14.0	14.0					3																	195505836		687	1573	2260	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505836G>C	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12615C>G	3.37:g.195505836G>C	ENSP00000417498:p.His4205Gln					MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.H4205Q|MUC4_ENST00000349607.4_Intron	p.H4205Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13074	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	968					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12615C>G	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	g	0.099	-1.155501	0.01686	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.30448	1.55;1.53	.	.	.	.	.	.	.	.	T	0.17619	0.0423	N	0.19112	0.55	0.21950	N	0.999454	P	0.35208	0.49	B	0.40038	0.317	T	0.24368	-1.0162	6	.	.	.	.	.	.	.	.	4077	E7ESK3	.	Q	4205	ENSP00000417498:H4205Q;ENSP00000420243:H4205Q	.	H	-	3	2	MUC4	196990615	.	.	0.016000	0.15963	0.046000	0.14306	.	.	-0.849000	0.04158	0.074000	0.15403	CAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	3	0	0	0	6.4e-05	0	3	3				
SORCS2	57537	broad.mit.edu	37	4	7684513	7684513	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:7684513A>T	ENST00000507866.2	+	10	1494	c.1385A>T	c.(1384-1386)gAt>gTt	p.D462V	SORCS2_ENST00000329016.9_Missense_Mutation_p.D290V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	462					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CAAAAAATTGATGGGAAAGTG	0.468																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1384-1386)gAt>gTt		sortilin-related VPS10 domain containing receptor 2							97.0	90.0	92.0					4																	7684513		1881	4114	5995	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7684513A>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1385A>T	4.37:g.7684513A>T	ENSP00000422185:p.Asp462Val					SORCS2_ENST00000329016.9_Missense_Mutation_p.D290V	p.D462V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			10	1494	+			462					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.1385A>T	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808692	0.70797	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.43688	0.94;0.94	4.59	4.59	0.56863	VPS10 (1);	0.139284	0.24165	U	0.040947	T	0.64605	0.2613	M	0.85041	2.73	0.80722	D	1	P;D	0.64830	0.955;0.994	P;P	0.61070	0.754;0.883	T	0.72174	-0.4370	10	0.87932	D	0	.	14.14	0.65313	1.0:0.0:0.0:0.0	.	290;462	B5MED8;Q96PQ0	.;SORC2_HUMAN	V	462;290	ENSP00000422185:D462V;ENSP00000329124:D290V	ENSP00000329124:D290V	D	+	2	0	SORCS2	7735413	1.000000	0.71417	0.204000	0.23530	0.797000	0.45037	7.912000	0.87465	1.921000	0.55644	0.460000	0.39030	GAT		0.468	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		7	25	0	0	0	0.00198382	0	7	25				
ATL3	25923	broad.mit.edu	37	11	63398754	63398754	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr11:63398754C>T	ENST00000398868.3	-	12	1573	c.1297G>A	c.(1297-1299)Ggt>Agt	p.G433S	ATL3_ENST00000332645.4_Missense_Mutation_p.G460S|ATL3_ENST00000538786.1_Missense_Mutation_p.G415S	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	433					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TTCTTGCTACCATTGTGCTTG	0.493																																						ENST00000398868.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(1297-1299)Ggt>Agt		atlastin GTPase 3							126.0	126.0	126.0					11																	63398754		1941	4153	6094	SO:0001583	missense	25923				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr11:63398754C>T		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1297G>A	11.37:g.63398754C>T	ENSP00000381844:p.Gly433Ser					ATL3_ENST00000332645.4_Missense_Mutation_p.G460S|ATL3_ENST00000538786.1_Missense_Mutation_p.G415S	p.G433S	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN			12	1573	-			433					Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	ENST00000398868.3	37	c.1297G>A	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987629	0.35036	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	D;D;D	0.91631	-2.88;-2.88;-2.88	5.51	-1.41	0.08941	Guanylate-binding protein, C-terminal (3);	0.549004	0.20320	N	0.094644	T	0.72803	0.3506	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.66756	-0.5843	10	0.44086	T	0.13	-19.328	5.9574	0.19281	0.0:0.4376:0.1341:0.4283	.	433	Q6DD88	ATLA3_HUMAN	S	433;460;415	ENSP00000381844:G433S;ENSP00000329034:G460S;ENSP00000437593:G415S	ENSP00000329034:G460S	G	-	1	0	ATL3	63155330	0.000000	0.05858	0.001000	0.08648	0.968000	0.65278	0.473000	0.22132	0.046000	0.15833	0.655000	0.94253	GGT		0.493	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459		5	95	0	0	0	0.00116845	0	5	95				
DDX60L	91351	broad.mit.edu	37	4	169337892	169337892	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr4:169337892A>C	ENST00000511577.1	-	20	2914	c.2667T>G	c.(2665-2667)atT>atG	p.I889M	DDX60L_ENST00000260184.7_Missense_Mutation_p.I889M|DDX60L_ENST00000505890.1_Missense_Mutation_p.I889M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	889	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GACATCGAATAATGACAAGGA	0.358																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2665-2667)atT>atG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							104.0	101.0	102.0					4																	169337892		1843	4122	5965	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169337892A>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2667T>G	4.37:g.169337892A>C	ENSP00000422423:p.Ile889Met					DDX60L_ENST00000260184.7_Missense_Mutation_p.I889M|DDX60L_ENST00000505890.1_Missense_Mutation_p.I889M	p.I889M			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	20	2914	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	889			Helicase ATP-binding.		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.2667T>G		.	.	.	.	.	.	.	.	.	.	A	0.011	-1.709175	0.00712	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.71579	-0.58;-0.58;1.03;1.03	3.23	1.39	0.22231	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.364605	0.19473	N	0.113381	T	0.27798	0.0684	N	0.00608	-1.33	0.22710	N	0.998821	B;B;B	0.16166	0.016;0.009;0.016	B;B;B	0.10450	0.005;0.005;0.005	T	0.37641	-0.9697	10	0.02654	T	1	.	3.9394	0.09319	0.1966:0.5793:0.0:0.2241	.	889;889;889	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	M	889;889;889;585	ENSP00000260184:I889M;ENSP00000422423:I889M;ENSP00000422202:I889M;ENSP00000421026:I585M	ENSP00000260184:I889M	I	-	3	3	DDX60L	169574467	0.999000	0.42202	0.265000	0.24526	0.846000	0.48090	0.327000	0.19663	0.034000	0.15491	-0.662000	0.03851	ATT		0.358	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		15	84	0	0	0	0.000566183	0	15	84				
CP	1356	broad.mit.edu	37	3	148896263	148896263	+	Silent	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:148896263A>G	ENST00000264613.6	-	16	3079	c.2817T>C	c.(2815-2817)tcT>tcC	p.S939S		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	939	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CGGGGTGATCAGAGTATGTTT	0.323																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2815-2817)tcT>tcC		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						130.0	121.0	124.0					3																	148896263		2203	4300	6503	SO:0001819	synonymous_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148896263A>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2817T>C	3.37:g.148896263A>G							p.S939S	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		16	3079	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	939			F5/8 type A 3.|Plastocyanin-like 6.		Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	c.2817T>C	CCDS3141.1																																																																																				0.323	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		6	94	0	0	0	0.00198382	0	6	94				
DIS3	22894	broad.mit.edu	37	13	73347832	73347832	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr13:73347832C>T	ENST00000377767.4	-	8	1329	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	DIS3_ENST00000377780.4_Missense_Mutation_p.R380K|DIS3_ENST00000545453.1_Missense_Mutation_p.R248K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	410					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATTTGGATATCTGGAATTTCT	0.323										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1228-1230)aGa>aAa		DIS3 mitotic control homolog (S. cerevisiae)							90.0	89.0	90.0					13																	73347832		2202	4300	6502	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73347832C>T	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1229G>A	13.37:g.73347832C>T	ENSP00000366997:p.Arg410Lys	Multiple Myeloma(4;0.011)				DIS3_ENST00000377780.4_Missense_Mutation_p.R380K|DIS3_ENST00000545453.1_Missense_Mutation_p.R248K	p.R410K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	8	1329	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	410					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.1229G>A	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243153	0.79912	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.20881	2.04;2.04;2.04	5.49	4.65	0.58169	.	0.040366	0.85682	N	0.000000	T	0.26593	0.0650	L	0.37897	1.145	0.80722	D	1	P;P	0.39862	0.692;0.565	P;B	0.51266	0.664;0.217	T	0.02371	-1.1169	10	0.11485	T	0.65	.	14.6692	0.68932	0.0:0.9297:0.0:0.0703	.	380;410	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	K	410;380;248	ENSP00000366997:R410K;ENSP00000367011:R380K;ENSP00000440058:R248K	ENSP00000366997:R410K	R	-	2	0	DIS3	72245833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.373000	0.79623	1.466000	0.48025	0.650000	0.86243	AGA		0.323	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		10	42	0	0	0	0.000442599	0	10	42				
HELB	92797	broad.mit.edu	37	12	66698883	66698883	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr12:66698883A>G	ENST00000247815.4	+	2	619	c.560A>G	c.(559-561)gAa>gGa	p.E187G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	187					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATGGTCAGGAAGAGTTGTTC	0.353																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(559-561)gAa>gGa		helicase (DNA) B							72.0	69.0	70.0					12																	66698883		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66698883A>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.560A>G	12.37:g.66698883A>G	ENSP00000247815:p.Glu187Gly						p.E187G	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	2	619	+			187					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.560A>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.736080	0.30774	.	.	ENSG00000127311	ENST00000247815	T	0.12465	2.68	4.54	3.42	0.39159	.	1.406020	0.04460	N	0.374339	T	0.10337	0.0253	L	0.27053	0.805	0.09310	N	1	B	0.31125	0.309	B	0.21917	0.037	T	0.14420	-1.0473	9	.	.	.	-2.2485	8.088	0.30784	0.9016:0.0:0.0984:0.0	.	187	Q8NG08	HELB_HUMAN	G	187	ENSP00000247815:E187G	.	E	+	2	0	HELB	64985150	0.001000	0.12720	0.009000	0.14445	0.005000	0.04900	1.329000	0.33770	2.030000	0.59900	0.454000	0.30748	GAA		0.353	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			10	72	0	0	0	0.000673444	0	10	72				
GJA8	2703	broad.mit.edu	37	1	147380335	147380335	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:147380335G>A	ENST00000369235.1	+	1	253	c.253G>A	c.(253-255)Gtc>Atc	p.V85I	GJA8_ENST00000240986.4_Missense_Mutation_p.V85I			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	85					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GATCATCTTCGTCTCCACCCC	0.637																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(253-255)Gtc>Atc		gap junction protein, alpha 8, 50kDa							138.0	107.0	118.0					1																	147380335		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380335G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.253G>A	1.37:g.147380335G>A	ENSP00000358238:p.Val85Ile					GJA8_ENST00000369235.1_Missense_Mutation_p.V85I	p.V85I	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	306	+	all_hematologic(923;0.0276)		85					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.253G>A	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.446399	0.84101	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99298	-5.71;-5.71	5.2	4.26	0.50523	Connexin, N-terminal (1);	0.207319	0.40640	N	0.001047	D	0.99177	0.9715	M	0.80616	2.505	0.47905	D	0.999549	D	0.89917	1.0	D	0.69654	0.965	D	0.99282	1.0896	10	0.87932	D	0	.	12.8855	0.58040	0.0827:0.0:0.9173:0.0	.	85	P48165	CXA8_HUMAN	I	85	ENSP00000240986:V85I;ENSP00000358238:V85I	ENSP00000240986:V85I	V	+	1	0	GJA8	145846959	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	5.732000	0.68563	1.109000	0.41680	0.491000	0.48974	GTC		0.637	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		10	80	0	0	0	0.00136819	0	10	80				
ADAMTS16	170690	broad.mit.edu	37	5	5186169	5186169	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:5186169G>A	ENST00000274181.7	+	5	906	c.768G>A	c.(766-768)atG>atA	p.M256I	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M256I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	256					branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCATAGACATGCCCCAGCCTC	0.468																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(766-768)atG>atA		ADAM metallopeptidase with thrombospondin type 1 motif, 16							177.0	175.0	176.0					5																	5186169		1961	4162	6123	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5186169G>A	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.768G>A	5.37:g.5186169G>A	ENSP00000274181:p.Met256Ile					ADAMTS16_ENST00000511368.1_Missense_Mutation_p.M256I	p.M256I	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			5	906	+			256					C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.768G>A	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.375721	0.24857	.	.	ENSG00000145536	ENST00000274181;ENST00000511368;ENST00000536857	T;T	0.61392	0.21;0.11	5.37	5.37	0.77165	.	0.047371	0.85682	D	0.000000	T	0.50718	0.1632	L	0.50333	1.59	0.48341	D	0.999633	B;B;B	0.22276	0.067;0.011;0.007	B;B;B	0.14023	0.008;0.01;0.004	T	0.46331	-0.9199	10	0.36615	T	0.2	.	12.9388	0.58331	0.0:0.0:0.8378:0.1622	.	256;256;256	Q8TE57;Q8TE57-2;Q2XQZ0	ATS16_HUMAN;.;.	I	256	ENSP00000274181:M256I;ENSP00000421631:M256I	ENSP00000274181:M256I	M	+	3	0	ADAMTS16	5239169	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	0.943000	0.29030	2.512000	0.84698	0.655000	0.94253	ATG		0.468	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		37	190	0	0	0	0.00285205	0	37	190				
OXSR1	9943	broad.mit.edu	37	3	38292947	38292947	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:38292947A>G	ENST00000311806.3	+	16	1801	c.1429A>G	c.(1429-1431)Agg>Ggg	p.R477G		NM_005109.2	NP_005100.1			oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGTCGACGGAAGGGATTTAGT	0.458																																						ENST00000311806.3																			0				skin(1)	1						c.(1429-1431)Agg>Ggg		oxidative stress responsive 1							299.0	271.0	280.0					3																	38292947		2203	4300	6503	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38292947A>G	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000311806.3:c.1429A>G	3.37:g.38292947A>G	ENSP00000311713:p.Arg477Gly						p.R477G	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	16	1801	+			477						Missense_Mutation	SNP	ENST00000311806.3	37	c.1429A>G	CCDS2675.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.854670	0.51376	.	.	ENSG00000172939	ENST00000311806	T	0.72282	-0.64	5.61	3.01	0.34805	.	0.040777	0.85682	D	0.000000	T	0.61286	0.2335	L	0.39898	1.24	0.58432	D	0.999999	B	0.30326	0.276	B	0.35278	0.199	T	0.56414	-0.7983	10	0.30078	T	0.28	-17.177	10.6357	0.45563	0.6924:0.3075:0.0:0.0	.	477	O95747	OXSR1_HUMAN	G	477	ENSP00000311713:R477G	ENSP00000311713:R477G	R	+	1	2	OXSR1	38267951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.447000	0.44917	1.025000	0.39708	0.528000	0.53228	AGG		0.458	OXSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253744.1	NM_005109		6	230	0	0	0	0.00198382	0	6	230				
KLF4	9314	broad.mit.edu	37	9	110250242	110250242	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr9:110250242G>T	ENST00000374672.4	-	3	906	c.433C>A	c.(433-435)Ccc>Acc	p.P145T		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	145	Ser-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CAGGTGGAGGGCGCGCTGGCA	0.721																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(433-435)Ccc>Acc		Kruppel-like factor 4 (gut)							13.0	10.0	11.0					9																	110250242		2169	4270	6439	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110250242G>T	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.433C>A	9.37:g.110250242G>T	ENSP00000363804:p.Pro145Thr						p.P145T	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			3	906	-			145			Ser-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.433C>A	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149794	0.78001	.	.	ENSG00000136826	ENST00000374672;ENST00000411706	T	0.06768	3.26	5.26	5.26	0.73747	.	0.000000	0.42821	D	0.000660	T	0.07234	0.0183	L	0.27053	0.805	0.44508	D	0.997455	P;P	0.48764	0.915;0.903	B;B	0.43052	0.23;0.406	T	0.45366	-0.9266	10	0.21540	T	0.41	.	11.9355	0.52870	0.0803:0.0:0.9197:0.0	.	145;145	O43474;O43474-1	KLF4_HUMAN;.	T	145;136	ENSP00000363804:P145T	ENSP00000363804:P145T	P	-	1	0	KLF4	109290063	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	2.610000	0.46325	2.442000	0.82660	0.655000	0.94253	CCC		0.721	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		3	11	1	0	0.00024832	0.00024832	0.00124581	3	11				
FAM120B	84498	broad.mit.edu	37	6	170639605	170639605	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr6:170639605G>T	ENST00000476287.1	+	4	2092	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	FAM120B_ENST00000252510.9_5'UTR|MIR4644_ENST00000579929.1_RNA|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685Y|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674Y	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	662					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GAGGCACCCGGACCTCGTCAG	0.483																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1984-1986)Gac>Tac		family with sequence similarity 120B							127.0	117.0	121.0					6																	170639605		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170639605G>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1984G>T	6.37:g.170639605G>T	ENSP00000417970:p.Asp662Tyr					FAM120B_ENST00000540480.1_Missense_Mutation_p.D674Y|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685Y|FAM120B_ENST00000252510.9_5'UTR	p.D662Y	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	4	2092	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	662					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1984G>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212243	0.79240	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.42900	0.96;0.96;0.96	4.96	4.96	0.65561	.	0.228799	0.46145	D	0.000315	T	0.55065	0.1897	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.60239	-0.7302	10	0.87932	D	0	-30.33	16.0104	0.80399	0.0:0.0:1.0:0.0	.	662;662	Q96EK7;F2Z2E1	F120B_HUMAN;.	Y	674;685;662	ENSP00000444125:D674Y;ENSP00000440125:D685Y;ENSP00000417970:D662Y	ENSP00000436640:D662Y	D	+	1	0	FAM120B	170481530	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	5.945000	0.70226	2.300000	0.77407	0.655000	0.94253	GAC		0.483	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		9	83	1	0	5.16669e-11	0.000978159	2.73096e-10	9	83				
FAM196A	642938	broad.mit.edu	37	10	128973908	128973908	+	Missense_Mutation	SNP	G	G	A	rs377391223	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:128973908G>A	ENST00000522781.1	-	4	1307	c.752C>T	c.(751-753)aCg>aTg	p.T251M	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	251										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCAACCTCCGTTTTAAACAC	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		15461	0.0		0.0	False		,,,				2504	0.002					ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(751-753)aCg>aTg		family with sequence similarity 196, member A		G	MET/THR,	1,4403	2.1+/-5.4	0,1,2201	21.0	23.0	23.0		752,	4.0	0.7	10		23	0,8600		0,0,4300	no	missense,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	81,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	251/480,	128973908	1,13003	2202	4300	6502	SO:0001583	missense	642938							g.chr10:128973908G>A		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.752C>T	10.37:g.128973908G>A	ENSP00000429763:p.Thr251Met					DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M	p.T251M	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1307	-			251					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.752C>T	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575891	0.45902	2.27E-4	0.0	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.47528	0.84;0.84	4.02	4.02	0.46733	.	0.234553	0.43919	D	0.000508	T	0.65101	0.2659	M	0.69823	2.125	0.43381	D	0.995488	D;D	0.89917	1.0;0.999	D;P	0.72982	0.979;0.903	T	0.68659	-0.5350	10	0.87932	D	0	.	12.5521	0.56231	0.0:0.0:0.8332:0.1668	.	251;251	B7ZME7;Q6ZSG2	.;F196A_HUMAN	M	251	ENSP00000429763:T251M;ENSP00000428730:T251M	ENSP00000428730:T251M	T	-	2	0	FAM196A	128863898	0.998000	0.40836	0.702000	0.30337	0.309000	0.27889	2.909000	0.48758	2.530000	0.85305	0.563000	0.77884	ACG		0.657	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		6	41	0	0	0	0.00116845	0	6	41				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			5	151	0	0	0	0.00116845	0	5	151				
ANKRD32	84250	broad.mit.edu	37	5	94030836	94030836	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr5:94030836C>A	ENST00000265140.5	+	21	3415	c.2996C>A	c.(2995-2997)aCc>aAc	p.T999N	ANKRD32_ENST00000493934.1_Intron	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	999						centrosome (GO:0005813)|nucleus (GO:0005634)				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CATAAAGAAACCACCAGTGTT	0.348																																						ENST00000265140.5																			0				NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13						c.(2995-2997)aCc>aAc		ankyrin repeat domain 32							66.0	67.0	67.0					5																	94030836		2203	4299	6502	SO:0001583	missense	84250							g.chr5:94030836C>A	AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.2996C>A	5.37:g.94030836C>A	ENSP00000265140:p.Thr999Asn					ANKRD32_ENST00000493934.1_Intron	p.T999N	NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN		all cancers(79;3.88e-18)	21	3415	+		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)	999					B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Missense_Mutation	SNP	ENST00000265140.5	37	c.2996C>A	CCDS4071.2	.	.	.	.	.	.	.	.	.	.	C	10.46	1.356986	0.24598	.	.	ENSG00000133302	ENST00000265140	T	0.40476	1.03	5.46	4.54	0.55810	.	0.441905	0.22207	N	0.063146	T	0.27489	0.0675	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.07770	-1.0755	10	0.31617	T	0.26	.	10.5297	0.44969	0.1322:0.6385:0.2293:0.0	.	999	Q9BQI6	ANR32_HUMAN	N	999	ENSP00000265140:T999N	ENSP00000265140:T999N	T	+	2	0	ANKRD32	94056592	0.001000	0.12720	0.978000	0.43139	0.992000	0.81027	1.019000	0.30014	2.579000	0.87056	0.591000	0.81541	ACC		0.348	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241610.1	NM_032290		7	61	1	0	7.48243e-07	0.000442599	4.35819e-06	7	61				
ORAI2	80228	broad.mit.edu	37	7	102087367	102087367	+	Silent	SNP	C	C	T	rs144660402		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr7:102087367C>T	ENST00000356387.2	+	4	868	c.633C>T	c.(631-633)ttC>ttT	p.F211F	ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000403646.3_Silent_p.F211F|ORAI2_ENST00000478730.2_Silent_p.F211F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	211						growth cone (GO:0030426)|integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCCTCATCTTCGTGGTCTTCA	0.667													C|||	1	0.000199681	0.0	0.0	5008	,	,		15618	0.0		0.001	False		,,,				2504	0.0					ENST00000356387.2																			0				autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						c.(631-633)ttC>ttT		ORAI calcium release-activated calcium modulator 2		C	,	0,4406		0,0,2203	42.0	36.0	38.0		633,633	0.3	1.0	7	dbSNP_134	38	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ORAI2	NM_001126340.1,NM_032831.2	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	211/255,211/255	102087367	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	80228					integral to membrane	protein binding	g.chr7:102087367C>T	AF258552	CCDS5722.1	7q22.1	2007-08-14	2007-08-14	2007-08-14	ENSG00000160991	ENSG00000160991		"""ORAI calcium release-activated calcium modulators"""	21667	protein-coding gene	gene with protein product	"""CAP-binding protein complex interacting protein 2"""	610929	"""chromosome 7 open reading frame 19"", ""transmembrane protein 142B"""	C7orf19, TMEM142B		16582901	Standard	NM_001126340		Approved	CBCIP2, FLJ12474, FLJ14733, H_NH0514P08.8	uc003uzj.3	Q96SN7	OTTHUMG00000157722	ENST00000356387.2:c.633C>T	7.37:g.102087367C>T						ORAI2_ENST00000478730.1_Silent_p.F211F|ORAI2_ENST00000473939.1_Silent_p.F211F|ORAI2_ENST00000488996.1_3'UTR|ORAI2_ENST00000403646.3_Silent_p.F211F	p.F211F	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN			4	868	+			211					Q6IA68|Q8WY94|Q9H9Y3	Silent	SNP	ENST00000356387.2	37	c.633C>T	CCDS5722.1																																																																																				0.667	ORAI2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349509.2	NM_032831		6	36	0	0	0	0.00116845	0	6	36				
TMEM8A	58986	broad.mit.edu	37	16	426140	426140	+	Missense_Mutation	SNP	T	T	C	rs575758267		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr16:426140T>C	ENST00000431232.2	-	6	1380	c.1220A>G	c.(1219-1221)aAc>aGc	p.N407S	TMEM8A_ENST00000476735.1_5'Flank|TMEM8A_ENST00000250930.3_Missense_Mutation_p.N214S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	407					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGTACCTTGTTGGCCCGCAG	0.682													T|||	0	0.0	0.0	0.0	5008	,	,		16441	0.0		0.0	False		,,,				2504	0.0					ENST00000431232.2																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						c.(1219-1221)aAc>aGc		transmembrane protein 8A							40.0	37.0	38.0					16																	426140		2199	4299	6498	SO:0001583	missense	58986				cell adhesion	integral to plasma membrane		g.chr16:426140T>C	AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1220A>G	16.37:g.426140T>C	ENSP00000401338:p.Asn407Ser					TMEM8A_ENST00000250930.3_Missense_Mutation_p.N214S	p.N407S	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN			6	1380	-			407					D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	ENST00000431232.2	37	c.1220A>G	CCDS10407.1	.	.	.	.	.	.	.	.	.	.	T	17.27	3.347797	0.61183	.	.	ENSG00000129925	ENST00000431232;ENST00000250930	T;T	0.34667	1.79;1.35	4.89	4.89	0.63831	.	0.000000	0.64402	D	0.000001	T	0.54303	0.1850	M	0.80746	2.51	0.80722	D	1	D	0.67145	0.996	P	0.54210	0.745	T	0.63097	-0.6713	10	0.72032	D	0.01	-11.803	14.6721	0.68951	0.0:0.0:0.0:1.0	.	407	Q9HCN3	TMM8A_HUMAN	S	407;214	ENSP00000401338:N407S;ENSP00000250930:N214S	ENSP00000250930:N214S	N	-	2	0	TMEM8A	366141	1.000000	0.71417	0.978000	0.43139	0.078000	0.17371	4.400000	0.59709	2.054000	0.61138	0.533000	0.62120	AAC		0.682	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000109257.2	NM_021259		4	24	0	0	0	0.00024832	0	4	24				
PCDHGA10	56106	broad.mit.edu	37	5	140795088	140795088	+	Silent	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr5:140795088G>A	ENST00000398610.2	+	1	2346	c.2346G>A	c.(2344-2346)acG>acA	p.T782T	PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB7_ENST00000398594.2_5'Flank|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1	Q9Y5H3	PCDGA_HUMAN	protocadherin gamma subfamily A, 10	782					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGGACACGCTCATCAGCC	0.507																																						ENST00000398610.2																			0				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2344-2346)acG>acA									96.0	104.0	101.0					5																	140795088		2203	4300	6503	SO:0001819	synonymous_variant	0							g.chr5:140795088G>A		CCDS47292.1, CCDS75343.1	5q31	2010-01-26			ENSG00000253846	ENSG00000253846		"""Cadherins / Protocadherins : Clustered"""	8697	other	protocadherin		606297				10380929	Standard	NM_018913		Approved	PCDH-GAMMA-A10		Q9Y5H3	OTTHUMG00000163688	ENST00000398610.2:c.2346G>A	5.37:g.140795088G>A						PCDHGB2_ENST00000522605.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	p.T782T	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2346	+								Q9Y5E0	Silent	SNP	ENST00000398610.2	37	c.2346G>A	CCDS47292.1																																																																																				0.507	PCDHGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374747.1	NM_018913		18	122	0	0	0	0.00121646	0	18	122				
SYNGR2	9144	broad.mit.edu	37	17	76168029	76168029	+	3'UTR	SNP	C	C	T	rs376747192		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr17:76168029C>T	ENST00000225777.3	+	0	746				SYNGR2_ENST00000588282.1_Missense_Mutation_p.A259V|SYNGR2_ENST00000585591.1_Intron|SYNGR2_ENST00000589711.1_3'UTR|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000590201.1_3'UTR			O43760	SNG2_HUMAN	synaptogyrin 2						protein targeting (GO:0006605)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)			CGGCGGTTAGCGTGGGAAGGG	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16415	0.0		0.001	False		,,,				2504	0.0					ENST00000588282.1																			0				endometrium(2)|large_intestine(1)|liver(1)|lung(1)|skin(1)|urinary_tract(1)	7						c.(775-777)gCg>gTg		synaptogyrin 2		G		0,4406		0,0,2203	46.0	44.0	45.0			-8.4	0.0	17		45	2,8594		0,2,4296	no	utr-3	SYNGR2	NM_004710.3		0,2,6499	TT,TC,CC		0.0233,0.0,0.0154			76168029	2,13000	2203	4298	6501	SO:0001624	3_prime_UTR_variant	9144					integral to plasma membrane		g.chr17:76168029C>T	AJ002308	CCDS11753.1	17q25.3	2014-09-11			ENSG00000108639	ENSG00000108639			11499	protein-coding gene	gene with protein product	"""cellugyrin"""	603926				9760194	Standard	NM_004710		Approved		uc002juu.1	O43760	OTTHUMG00000177457	ENST00000225777.3:c.*12C>T	17.37:g.76168029C>T						SYNGR2_ENST00000590201.1_3'UTR|SYNGR2_ENST00000585591.1_Intron|SYNGR2_ENST00000592456.1_3'UTR|SYNGR2_ENST00000225777.3_3'UTR|SYNGR2_ENST00000589711.1_3'UTR	p.A259V	NM_004710.3	NP_004701.1	O43760	SNG2_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994)		3	782	+			0					O43762|Q3KQZ2|Q658S7	Missense_Mutation	SNP	ENST00000225777.3	37	c.776C>T	CCDS11753.1																																																																																				0.632	SYNGR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437009.2			11	75	0	0	0	0.000673444	0	11	75				
ZNF3	7551	broad.mit.edu	37	7	99669788	99669788	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr7:99669788T>C	ENST00000424697.1	-	6	625	c.319A>G	c.(319-321)Aga>Gga	p.R107G	ZNF3_ENST00000303915.6_Missense_Mutation_p.R107G|ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron	NM_001278284.1|NM_001278287.1|NM_001278290.1|NM_001278291.1|NM_001278292.1|NM_032924.3	NP_001265213.1|NP_001265216.1|NP_001265219.1|NP_001265220.1|NP_001265221.1|NP_116313.3	P17036	ZNF3_HUMAN	zinc finger protein 3	107	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				cell differentiation (GO:0030154)|leukocyte activation (GO:0045321)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCATGTGATCTTGTGTCTTCA	0.403																																						ENST00000303915.6																			0				NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25						c.(319-321)Aga>Gga		zinc finger protein 3							111.0	100.0	103.0					7																	99669788		1844	4087	5931	SO:0001583	missense	7551				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99669788T>C	AF027136	CCDS43618.1, CCDS43619.1	7q22.1	2013-01-08	2006-05-05					"""Zinc fingers, C2H2-type"", ""-"""	13089	protein-coding gene	gene with protein product		194510	"""zinc finger protein 3 (A8-51)"""				Standard	NM_032924		Approved	A8-51, KOX25, PP838, FLJ20216, HF.12, Zfp113	uc003usr.4	P17036		ENST00000424697.1:c.319A>G	7.37:g.99669788T>C	ENSP00000415358:p.Arg107Gly					ZNF3_ENST00000424697.1_Missense_Mutation_p.R107G|ZNF3_ENST00000299667.4_Missense_Mutation_p.R107G|ZNF3_ENST00000413658.2_Intron	p.R107G			P17036	ZNF3_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		5	1286	-	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	107			KRAB.		D6W5U0|P13683|Q9HBR4|Q9NNX8|Q9NXJ1|Q9UC15|Q9UC16	Missense_Mutation	SNP	ENST00000424697.1	37	c.319A>G	CCDS43619.1	.	.	.	.	.	.	.	.	.	.	T	6.168	0.399195	0.11696	.	.	ENSG00000166526	ENST00000424697;ENST00000303915;ENST00000299667;ENST00000412947;ENST00000449785;ENST00000428683;ENST00000441298	T;T;T;T;T;T;T	0.06849	3.25;3.25;3.25;5.12;5.25;5.25;5.07	5.01	4.12	0.48240	Krueppel-associated box (2);	0.389409	0.22188	N	0.063419	T	0.03959	0.0111	N	0.04132	-0.27	0.22961	N	0.998506	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.42155	-0.9468	10	0.21540	T	0.41	-10.2609	10.4537	0.44537	0.0:0.9028:0.0:0.0972	.	90;107	B3KRP4;P17036	.;ZNF3_HUMAN	G	107;107;107;71;107;107;71	ENSP00000415358:R107G;ENSP00000306372:R107G;ENSP00000299667:R107G;ENSP00000416088:R71G;ENSP00000405970:R107G;ENSP00000388042:R107G;ENSP00000394113:R71G	ENSP00000299667:R107G	R	-	1	2	ZNF3	99507724	0.001000	0.12720	0.847000	0.33407	0.829000	0.46940	0.971000	0.29396	1.323000	0.45263	-0.415000	0.06103	AGA		0.403	ZNF3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336247.3	NM_017715		16	81	0	0	0	0.00074312	0	16	81				
CRMP1	1400	broad.mit.edu	37	4	5862782	5862782	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr4:5862782G>A	ENST00000397890.2	-	3	498	c.284C>T	c.(283-285)gCg>gTg	p.A95V	CRMP1_ENST00000324989.7_Missense_Mutation_p.A209V|CRMP1_ENST00000511535.1_5'UTR|CRMP1_ENST00000512574.1_Missense_Mutation_p.A93V	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	95					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CACCAGTGCCGCCCTGGTCCC	0.582																																						ENST00000324989.7																			0				NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(625-627)gCg>gTg		collapsin response mediator protein 1							95.0	89.0	91.0					4																	5862782		2203	4300	6503	SO:0001583	missense	1400				axon guidance|pyrimidine base catabolic process	cytosol|microtubule organizing center|spindle	dihydropyrimidinase activity|protein binding	g.chr4:5862782G>A	D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.284C>T	4.37:g.5862782G>A	ENSP00000380987:p.Ala95Val					CRMP1_ENST00000397890.2_Missense_Mutation_p.A95V|CRMP1_ENST00000512574.1_Missense_Mutation_p.A93V|CRMP1_ENST00000511535.1_5'UTR	p.A209V	NM_001014809.1	NP_001014809.1	Q14194	DPYL1_HUMAN		Colorectal(103;0.0721)	3	714	-			95					A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	ENST00000397890.2	37	c.626C>T	CCDS43207.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776732	0.90195	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.93547	-3.24;-3.24;-3.24	4.37	4.37	0.52481	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.97539	0.9194	H	0.95004	3.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.979;0.991;0.991	D	0.98797	1.0738	10	0.87932	D	0	-12.6767	16.0708	0.80928	0.0:0.0:1.0:0.0	.	209;93;95	A0EJG6;E9PD68;Q14194	.;.;DPYL1_HUMAN	V	209;95;95;93	ENSP00000321606:A209V;ENSP00000380987:A95V;ENSP00000425742:A93V	ENSP00000321606:A209V	A	-	2	0	CRMP1	5913683	1.000000	0.71417	0.113000	0.21522	0.866000	0.49608	8.981000	0.93465	2.251000	0.74343	0.561000	0.74099	GCG		0.582	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358871.1	NM_001313		12	48	0	0	0	0.00244969	0	12	48				
NLRC5	84166	broad.mit.edu	37	16	57116361	57116361	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr16:57116361C>T	ENST00000262510.6	+	49	5747	c.5522C>T	c.(5521-5523)gCc>gTc	p.A1841V	NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812V|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1841					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				TGCGACATGGCCCAGCACCTG	0.567																																						ENST00000262510.6																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(5521-5523)gCc>gTc		NLR family, CARD domain containing 5							106.0	94.0	98.0					16																	57116361		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57116361C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.5522C>T	16.37:g.57116361C>T	ENSP00000262510:p.Ala1841Val					NLRC5_ENST00000539144.1_Missense_Mutation_p.A1812V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A1812V|NLRC5_ENST00000436936.1_3'UTR	p.A1841V	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN			49	5747	+		all_neural(199;0.225)	1841					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.5522C>T	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	c	12.49	1.954146	0.34471	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	T;T;T	0.52295	0.67;0.67;0.67	4.47	1.33	0.21861	.	0.898467	0.09038	N	0.857661	T	0.42291	0.1196	M	0.64630	1.985	0.58432	D	0.999999	B	0.29508	0.246	B	0.28305	0.088	T	0.16012	-1.0417	10	0.34782	T	0.22	.	6.4729	0.22018	0.0:0.6635:0.0:0.3365	.	1841	Q86WI3	NLRC5_HUMAN	V	1841;1812;1812	ENSP00000262510:A1841V;ENSP00000308886:A1812V;ENSP00000441727:A1812V	ENSP00000262510:A1841V	A	+	2	0	NLRC5	55673862	0.996000	0.38824	0.687000	0.30102	0.008000	0.06430	0.459000	0.21908	0.083000	0.17047	-0.213000	0.12676	GCC		0.567	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		12	62	0	0	0	0.000958276	0	12	62				
FBXW11	23291	broad.mit.edu	37	5	171318481	171318481	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr5:171318481T>C	ENST00000265094.5	-	6	916	c.779A>G	c.(778-780)aAt>aGt	p.N260S	FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000296933.6_Missense_Mutation_p.N247S	NM_012300.2	NP_036432.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	260					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTTAATAGAATTATCTCGTAG	0.348																																						ENST00000296933.6																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21						c.(739-741)aAt>aGt		F-box and WD repeat domain containing 11							64.0	63.0	63.0					5																	171318481		2203	4299	6502	SO:0001583	missense	23291				cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	g.chr5:171318481T>C	AB014596	CCDS34289.1, CCDS47340.1, CCDS47341.1	5q35.1	2013-01-09	2007-02-08	2004-06-16	ENSG00000072803	ENSG00000072803		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13607	protein-coding gene	gene with protein product		605651	"""F-box and WD-40 domain protein 1B"", ""F-box and WD-40 domain protein 11"""	FBXW1B		10531035, 10694485	Standard	NM_033644		Approved	KIAA0696, Fbw1b, BTRCP2, BTRC2, Hos, Fbw11	uc003mbm.1	Q9UKB1	OTTHUMG00000163267	ENST00000265094.5:c.779A>G	5.37:g.171318481T>C	ENSP00000265094:p.Asn260Ser					FBXW11_ENST00000393802.2_Missense_Mutation_p.N226S|FBXW11_ENST00000425623.2_Missense_Mutation_p.N228S|FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000265094.5_Missense_Mutation_p.N260S	p.N247S	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		6	1110	-	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	260					B2RC98|Q9P2S8|Q9P2S9|Q9Y4C6	Missense_Mutation	SNP	ENST00000265094.5	37	c.740A>G	CCDS34289.1	.	.	.	.	.	.	.	.	.	.	T	15.66	2.898370	0.52227	.	.	ENSG00000072803	ENST00000296933;ENST00000265094;ENST00000393802;ENST00000425623	T;T;T;T	0.61040	1.3;0.14;1.3;1.3	4.95	4.95	0.65309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.39514	1.22	0.80722	D	1	B;B;B;B	0.28208	0.063;0.099;0.203;0.051	B;B;B;B	0.23574	0.008;0.019;0.047;0.011	T	0.53208	-0.8471	10	0.72032	D	0.01	-19.0506	14.5654	0.68171	0.0:0.0:0.0:1.0	.	228;226;260;247	B4DH70;Q9UKB1-2;Q9UKB1;Q9UKB1-3	.;.;FBW1B_HUMAN;.	S	247;260;226;228	ENSP00000296933:N247S;ENSP00000265094:N260S;ENSP00000377391:N226S;ENSP00000444929:N228S	ENSP00000265094:N260S	N	-	2	0	FBXW11	171251086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.886000	0.87288	1.991000	0.58162	0.477000	0.44152	AAT		0.348	FBXW11-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000372382.1	NM_012300		7	44	0	0	0	0.000274275	0	7	44				
RAB5C	5878	broad.mit.edu	37	17	40280784	40280784	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr17:40280784G>T	ENST00000346213.4	-	3	413	c.201C>A	c.(199-201)gaC>gaA	p.D67E	RAB5C_ENST00000393860.3_Missense_Mutation_p.D67E|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E|RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E	NM_004583.3	NP_004574.2	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	67					endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|plasma membrane to endosome transport (GO:0048227)|protein transport (GO:0015031)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		TGACTGTTGTGTCATCCAGGC	0.577																																						ENST00000393860.3																			0				large_intestine(1)|lung(4)|prostate(1)|skin(1)	7						c.(199-201)gaC>gaA		RAB5C, member RAS oncogene family							84.0	75.0	78.0					17																	40280784		2203	4300	6503	SO:0001583	missense	5878				protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding	g.chr17:40280784G>T	U18420	CCDS11419.1, CCDS58551.1	17q21.2	2013-02-15			ENSG00000108774	ENSG00000108774		"""RAB, member RAS oncogene"""	9785	protein-coding gene	gene with protein product	"""RAB, member of RAS oncogene family-like"", ""RAB5C, member of RAS oncogene family"""	604037		RABL		8646882	Standard	NM_004583		Approved	RAB5CL	uc010cxx.3	P51148	OTTHUMG00000169703	ENST00000346213.4:c.201C>A	17.37:g.40280784G>T	ENSP00000345689:p.Asp67Glu					RAB5C_ENST00000346213.4_Missense_Mutation_p.D67E|RAB5C_ENST00000547517.1_Missense_Mutation_p.D100E|CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.D67E	p.D67E	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.128)	4	517	-		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)	67					F8W1H5|Q6FH55|Q9P0Y5	Missense_Mutation	SNP	ENST00000346213.4	37	c.201C>A	CCDS11419.1	.	.	.	.	.	.	.	.	.	.	G	12.70	2.017374	0.35606	.	.	ENSG00000108774	ENST00000346213;ENST00000393860;ENST00000547517;ENST00000552162;ENST00000550504;ENST00000550406	T;T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-0.5;-1.39	5.17	3.16	0.36331	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	L	0.41236	1.265	0.49915	D	0.999832	B;B	0.28801	0.005;0.223	B;B	0.24269	0.025;0.052	T	0.62854	-0.6766	10	0.33141	T	0.24	-31.9017	9.4373	0.38646	0.2117:0.0:0.7883:0.0	.	100;67	F8W1H5;P51148	.;RAB5C_HUMAN	E	67;67;100;67;67;67	ENSP00000345689:D67E;ENSP00000377440:D67E;ENSP00000447053:D100E;ENSP00000449612:D67E;ENSP00000449777:D67E;ENSP00000448314:D67E	ENSP00000345689:D67E	D	-	3	2	RAB5C	37534310	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	2.897000	0.48664	0.748000	0.32831	0.563000	0.77884	GAC		0.577	RAB5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405509.1	NM_004583		12	66	1	0	1.61879e-10	0.00136819	9.59712e-10	12	66				
IGKV3D-20	28874	broad.mit.edu	37	2	90078039	90078039	+	RNA	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr2:90078039C>T	ENST00000390270.2	+	0	173									immunoglobulin kappa variable 3D-20																		TGTGTTGACGCAGTCTCCAGC	0.502																																						ENST00000390270.2																			0																				91.0	91.0	91.0					2																	90078039		1879	4113	5992			0							g.chr2:90078039C>T	X12687		2p11.2	2012-02-08			ENSG00000211625	ENSG00000211625		"""Immunoglobulins / IGK locus"""	5825	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151615		2.37:g.90078039C>T														0	173	+									RNA	SNP	ENST00000390270.2	37																																																																																						0.502	IGKV3D-20-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323287.1	NG_000833		24	110	0	0	0	0.00395357	0	24	110				
C17orf78	284099	broad.mit.edu	37	17	35736258	35736258	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr17:35736258C>G	ENST00000300618.4	+	3	379	c.329C>G	c.(328-330)tCc>tGc	p.S110C	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	110						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AGCTCTGCCTCCTCAAGCTGT	0.458																																						ENST00000300618.4																			0				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6						c.(328-330)tCc>tGc		chromosome 17 open reading frame 78							114.0	112.0	113.0					17																	35736258		1928	4139	6067	SO:0001583	missense	284099					integral to membrane		g.chr17:35736258C>G	BC034672	CCDS45655.1	17q12	2014-05-06			ENSG00000167230	ENSG00000278505			26831	protein-coding gene	gene with protein product						14702039	Standard	NM_173625		Approved	FLJ39647	uc002hns.3	Q8N4C9	OTTHUMG00000188467	ENST00000300618.4:c.329C>G	17.37:g.35736258C>G	ENSP00000300618:p.Ser110Cys					C17orf78_ENST00000586700.1_Missense_Mutation_p.S110C|ACACA_ENST00000416895.1_Intron|ACACA_ENST00000353139.5_Intron	p.S110C	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN			3	379	+		Breast(25;0.00295)|Ovarian(249;0.15)	110					Q8N8D2	Missense_Mutation	SNP	ENST00000300618.4	37	c.329C>G	CCDS45655.1	.	.	.	.	.	.	.	.	.	.	C	10.30	1.310805	0.23821	.	.	ENSG00000167230	ENST00000300618;ENST00000321564	T	0.48836	0.8	4.68	0.185	0.15096	.	0.873895	0.09754	N	0.760192	T	0.42017	0.1184	L	0.32530	0.975	0.09310	N	1	D;D	0.57257	0.979;0.979	P;P	0.53313	0.723;0.723	T	0.31166	-0.9953	10	0.66056	D	0.02	-0.2037	2.2749	0.04100	0.3448:0.3879:0.168:0.0993	.	110;110	Q8N4C9-2;Q8N4C9	.;CQ078_HUMAN	C	110	ENSP00000300618:S110C	ENSP00000300618:S110C	S	+	2	0	C17orf78	32810371	0.000000	0.05858	0.102000	0.21198	0.808000	0.45660	0.322000	0.19576	0.549000	0.28973	0.655000	0.94253	TCC		0.458	C17orf78-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451570.2	NM_173625		6	136	0	0	0	0.00198382	0	6	136				
E2F3	1871	broad.mit.edu	37	6	20486928	20486928	+	Missense_Mutation	SNP	A	A	G	rs183255612		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr6:20486928A>G	ENST00000346618.3	+	5	959	c.893A>G	c.(892-894)tAt>tGt	p.Y298C	E2F3_ENST00000535432.1_Missense_Mutation_p.Y167C	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	298	Dimerization. {ECO:0000255}.				mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ACGTTAGCTTATGTTACATAT	0.333																																						ENST00000346618.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7						c.(892-894)tAt>tGt		E2F transcription factor 3							65.0	63.0	63.0					6																	20486928		2203	4300	6503	SO:0001583	missense	1871				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:20486928A>G	Y10479	CCDS4545.1, CCDS58999.1	6p22	2008-08-29			ENSG00000112242	ENSG00000112242			3115	protein-coding gene	gene with protein product		600427				8246996	Standard	NM_001949		Approved		uc003nda.2	O00716	OTTHUMG00000016389	ENST00000346618.3:c.893A>G	6.37:g.20486928A>G	ENSP00000262904:p.Tyr298Cys					E2F3_ENST00000535432.1_Missense_Mutation_p.Y167C	p.Y298C	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)		5	959	+	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		298			Dimerization (Potential).		Q15000|Q68DT0|Q9BZ44	Missense_Mutation	SNP	ENST00000346618.3	37	c.893A>G	CCDS4545.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390290	0.82902	.	.	ENSG00000112242	ENST00000346618;ENST00000535432	D;D	0.96587	-4.06;-4.06	5.93	5.93	0.95920	.	0.110414	0.64402	D	0.000004	D	0.98232	0.9415	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.99387	1.0924	10	0.87932	D	0	.	16.3829	0.83481	1.0:0.0:0.0:0.0	.	298	O00716	E2F3_HUMAN	C	298;167	ENSP00000262904:Y298C;ENSP00000443418:Y167C	ENSP00000262904:Y298C	Y	+	2	0	E2F3	20594907	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	2.271000	0.75665	0.459000	0.35465	TAT		0.333	E2F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043828.1			7	44	0	0	0	0.00307968	0	7	44				
WDR33	55339	broad.mit.edu	37	2	128474753	128474753	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr2:128474753C>T	ENST00000322313.4	-	17	3003	c.2845G>A	c.(2845-2847)Gga>Aga	p.G949R		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	949					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		GGTCCTTGTCCGGGGTTCAGA	0.478																																						ENST00000322313.4																			0				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39						c.(2845-2847)Gga>Aga		WD repeat domain 33							41.0	39.0	40.0					2																	128474753		2203	4300	6503	SO:0001583	missense	55339				postreplication repair|spermatogenesis	collagen|nucleus	protein binding	g.chr2:128474753C>T		CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.2845G>A	2.37:g.128474753C>T	ENSP00000325377:p.Gly949Arg						p.G949R	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0695)	17	3003	-	Colorectal(110;0.1)		949					Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	ENST00000322313.4	37	c.2845G>A	CCDS2150.1	.	.	.	.	.	.	.	.	.	.	C	17.44	3.390292	0.62066	.	.	ENSG00000136709	ENST00000322313	D	0.89617	-2.54	5.27	5.27	0.74061	.	0.000000	0.56097	D	0.000024	D	0.86768	0.6012	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.83639	0.0149	10	0.13853	T	0.58	-10.4583	14.3903	0.66973	0.0:1.0:0.0:0.0	.	949	Q9C0J8	WDR33_HUMAN	R	949	ENSP00000325377:G949R	ENSP00000325377:G949R	G	-	1	0	WDR33	128191223	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	3.549000	0.53681	2.473000	0.83533	0.563000	0.77884	GGA		0.478	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331141.2	NM_018383		3	19	0	0	0	6.4e-05	0	3	19				
C11orf87	399947	broad.mit.edu	37	11	109294695	109294695	+	Silent	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr11:109294695C>T	ENST00000327419.6	+	2	739	c.336C>T	c.(334-336)ggC>ggT	p.G112G	RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN	chromosome 11 open reading frame 87	112						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						GCCGCGGTGGCGGGGGGCTGC	0.652																																						ENST00000327419.6																			0				breast(2)|endometrium(1)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17						c.(334-336)ggC>ggT		chromosome 11 open reading frame 87							54.0	60.0	58.0					11																	109294695		2199	4298	6497	SO:0001819	synonymous_variant	399947					integral to membrane		g.chr11:109294695C>T	AB096240, BC035798	CCDS31672.1	11q22.3	2013-12-13	2013-12-13	2013-12-13	ENSG00000185742	ENSG00000185742			33788	protein-coding gene	gene with protein product	"""neuronal integral membrane protein 1"""					12477932	Standard	NM_207645		Approved	LOH11CR1A, LOC399947, NEURIM1	uc010rwb.2	Q6NUJ2		ENST00000327419.6:c.336C>T	11.37:g.109294695C>T						RP11-708B6.2_ENST00000532992.1_RNA|RP11-708B6.2_ENST00000532929.1_RNA	p.G112G	NM_207645.3	NP_997528.2	Q6NUJ2	CK087_HUMAN			2	739	+			112					B4E169	Silent	SNP	ENST00000327419.6	37	c.336C>T	CCDS31672.1																																																																																				0.652	C11orf87-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390403.1	NM_207645		5	86	0	0	0	0.00116845	0	5	86				
OR6C4	341418	broad.mit.edu	37	12	55945169	55945169	+	Silent	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr12:55945169C>G	ENST00000394256.2	+	1	187	c.159C>G	c.(157-159)ctC>ctG	p.L53L	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN	olfactory receptor, family 6, subfamily C, member 4	53						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						ACCCCCACCTCCAGACCCCCA	0.418																																						ENST00000394256.2																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						c.(157-159)ctC>ctG		olfactory receptor, family 6, subfamily C, member 4							170.0	172.0	171.0					12																	55945169		2202	4300	6502	SO:0001819	synonymous_variant	341418				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55945169C>G	BK004261	CCDS31827.1	12q14.2	2012-08-09				ENSG00000179626		"""GPCR / Class A : Olfactory receptors"""	19632	protein-coding gene	gene with protein product							Standard	NM_001005494		Approved		uc010spp.2	Q8NGE1	OTTHUMG00000169959	ENST00000394256.2:c.159C>G	12.37:g.55945169C>G						RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA	p.L53L	NM_001005494.1	NP_001005494.1	Q8NGE1	OR6C4_HUMAN			1	187	+			53					A8MZG7|B2RNN2|Q6IFK1	Silent	SNP	ENST00000394256.2	37	c.159C>G	CCDS31827.1																																																																																				0.418	OR6C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406678.1			32	141	0	0	0	0.00428921	0	32	141				
ALDH2	217	broad.mit.edu	37	12	112237730	112237730	+	Silent	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr12:112237730G>A	ENST00000261733.2	+	11	1330	c.1269G>A	c.(1267-1269)caG>caA	p.Q423Q	ALDH2_ENST00000416293.3_Silent_p.Q376Q	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	423					alcohol metabolic process (GO:0006066)|carbohydrate metabolic process (GO:0005975)|ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|electron carrier activity (GO:0009055)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Amyl Nitrite(DB01612)|Benzyl alcohol(DB06770)|Disulfiram(DB00822)|Guanidine(DB00536)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)	CAGTGATGCAGATCCTGAAGT	0.552			T	HMGA2	leiomyoma																																	ENST00000261733.2				Dom	yes		12	12q24.2	217	T	aldehyde dehydrogenase 2 family (mitochondrial)			M	HMGA2		leiomyoma		0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22						c.(1267-1269)caG>caA		aldehyde dehydrogenase 2 family (mitochondrial)	Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)						67.0	60.0	62.0					12																	112237730		2203	4300	6503	SO:0001819	synonymous_variant	217				carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity	g.chr12:112237730G>A	M26760	CCDS9155.1, CCDS55885.1	12q24.12	2007-12-14				ENSG00000111275	1.2.1.3	"""Aldehyde dehydrogenases"""	404	protein-coding gene	gene with protein product		100650				4015823, 2987944	Standard	NM_000690		Approved		uc001tst.3	P05091	OTTHUMG00000169603	ENST00000261733.2:c.1269G>A	12.37:g.112237730G>A						ALDH2_ENST00000416293.3_Silent_p.Q376Q	p.Q423Q	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN			11	1330	+			423					B4DW54|E7EUE5|Q03639|Q6IB13|Q6IV71	Silent	SNP	ENST00000261733.2	37	c.1269G>A	CCDS9155.1																																																																																				0.552	ALDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405008.1	NM_000690		11	28	0	0	0	0.00185496	0	11	28				
SPOP	8405	broad.mit.edu	37	17	47696643	47696643	+	Missense_Mutation	SNP	A	A	C	rs193920894		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr17:47696643A>C	ENST00000393328.2	-	5	670	c.305T>G	c.(304-306)tTc>tGc	p.F102C	SPOP_ENST00000513080.1_5'Flank|SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000393331.3_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C	NM_003563.3	NP_003554.1	O43791	SPOP_HUMAN	speckle-type POZ protein	102	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.|Required for nuclear localization.				glucose homeostasis (GO:0042593)|positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902237)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	ubiquitin protein ligase binding (GO:0031625)	p.F102C(2)		endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAGAATTTGAATTTTGCCCG	0.408										Prostate(2;0.17)																												ENST00000393331.3																			2	Substitution - Missense(2)	p.F102C(2)	prostate(2)	endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						c.(304-306)tTc>tGc		speckle-type POZ protein							147.0	136.0	140.0					17																	47696643		2203	4300	6503	SO:0001583	missense	8405				mRNA processing	nucleus	protein binding	g.chr17:47696643A>C	AJ000644	CCDS11551.1	17q21.33	2013-01-09			ENSG00000121067	ENSG00000121067		"""BTB/POZ domain containing"""	11254	protein-coding gene	gene with protein product		602650				9414087	Standard	NM_001007227		Approved	TEF2, BTBD32	uc002ipg.3	O43791	OTTHUMG00000161496	ENST00000393328.2:c.305T>G	17.37:g.47696643A>C	ENSP00000377001:p.Phe102Cys	Prostate(2;0.17)				SPOP_ENST00000503676.1_Missense_Mutation_p.F102C|SPOP_ENST00000393328.2_Missense_Mutation_p.F102C|SPOP_ENST00000347630.2_Missense_Mutation_p.F102C|SPOP_ENST00000504102.1_Missense_Mutation_p.F102C	p.F102C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN			6	775	-			102			MATH.|Required for nuclear localization.		B2R6S3|D3DTW7|Q53HJ1	Missense_Mutation	SNP	ENST00000393328.2	37	c.305T>G	CCDS11551.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374920	0.82573	.	.	ENSG00000121067	ENST00000393328;ENST00000393331;ENST00000347630;ENST00000504102;ENST00000503676;ENST00000513872;ENST00000509079;ENST00000505581;ENST00000507970;ENST00000514121;ENST00000515508	T;T;T;T;T;T;T;T;T;T	0.68903	-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.52	5.52	0.82312	TRAF-type (1);TRAF-like (1);MATH (3);	0.000000	0.85682	D	0.000000	D	0.82328	0.5013	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84153	0.0424	10	0.56958	D	0.05	-11.8278	15.4649	0.75390	1.0:0.0:0.0:0.0	.	102	O43791	SPOP_HUMAN	C	102;102;102;102;102;55;102;102;102;102;102	ENSP00000377001:F102C;ENSP00000377004:F102C;ENSP00000240327:F102C;ENSP00000425905:F102C;ENSP00000420908:F102C;ENSP00000426986:F102C;ENSP00000420960:F102C;ENSP00000426262:F102C;ENSP00000424119:F102C;ENSP00000426537:F102C	ENSP00000240327:F102C	F	-	2	0	SPOP	45051642	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.135000	0.94478	2.317000	0.78254	0.460000	0.39030	TTC		0.408	SPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365154.2	NM_003563		15	79	0	0	0	0.000566183	0	15	79				
DNAH7	56171	broad.mit.edu	37	2	196737068	196737068	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr2:196737068A>C	ENST00000312428.6	-	40	6639	c.6539T>G	c.(6538-6540)cTc>cGc	p.L2180R		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2180	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GAAATCACGGAGGTTGAACAA	0.398																																						ENST00000312428.6																			0				NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(6538-6540)cTc>cGc		dynein, axonemal, heavy chain 7							169.0	156.0	160.0					2																	196737068		1863	4099	5962	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196737068A>C	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6539T>G	2.37:g.196737068A>C	ENSP00000311273:p.Leu2180Arg						p.L2180R	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			40	6639	-			2180			AAA 3 (By similarity).		B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.6539T>G	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.339614	0.81911	.	.	ENSG00000118997	ENST00000312428	T	0.53423	0.62	4.53	4.53	0.55603	.	0.000000	0.85682	D	0.000000	T	0.82263	0.4999	H	0.99626	4.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89953	0.4081	10	0.87932	D	0	.	13.973	0.64252	1.0:0.0:0.0:0.0	.	2180	Q8WXX0	DYH7_HUMAN	R	2180	ENSP00000311273:L2180R	ENSP00000311273:L2180R	L	-	2	0	DNAH7	196445313	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	9.010000	0.93611	2.029000	0.59856	0.528000	0.53228	CTC		0.398	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		3	96	0	0	0	6.4e-05	0	3	96				
N4BP2	55728	broad.mit.edu	37	4	40119567	40119567	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr4:40119567A>G	ENST00000261435.6	+	8	2159	c.1743A>G	c.(1741-1743)atA>atG	p.I581M		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	581					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CAGTGCCAATAATTATGAGTT	0.358																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(1741-1743)atA>atG		NEDD4 binding protein 2							118.0	109.0	112.0					4																	40119567		2203	4300	6503	SO:0001583	missense	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40119567A>G	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.1743A>G	4.37:g.40119567A>G	ENSP00000261435:p.Ile581Met						p.I581M	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			8	2159	+			581					A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	ENST00000261435.6	37	c.1743A>G	CCDS3457.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	11.07|11.07	1.529178|1.529178	0.27387|0.27387	.|.	.|.	ENSG00000078177|ENSG00000078177	ENST00000261435;ENST00000381804|ENST00000513269	T|.	0.18960|.	2.18|.	5.44|5.44	-0.577|-0.577	0.11727|0.11727	.|.	0.351137|.	0.31268|.	N|.	0.007941|.	T|T	0.31451|0.31451	0.0797|0.0797	L|L	0.38175|0.38175	1.15|1.15	0.22156|0.22156	N|N	0.999321|0.999321	D;D|.	0.71674|.	0.998;0.996|.	P;P|.	0.62560|.	0.904;0.804|.	T|T	0.29912|0.29912	-0.9996|-0.9996	10|5	0.56958|.	D|.	0.05|.	-19.1776|-19.1776	5.6704|5.6704	0.17719|0.17719	0.4276:0.4097:0.0673:0.0954|0.4276:0.4097:0.0673:0.0954	.|.	581;581|.	Q86UW6-2;Q86UW6|.	.;N4BP2_HUMAN|.	M|D	581;501|228	ENSP00000261435:I581M|.	ENSP00000261435:I581M|.	I|N	+|+	3|1	3|0	N4BP2|N4BP2	39795962|39795962	0.992000|0.992000	0.36948|0.36948	0.998000|0.998000	0.56505|0.56505	0.272000|0.272000	0.26649|0.26649	0.583000|0.583000	0.23849|0.23849	0.039000|0.039000	0.15632|0.15632	-2.545000|-2.545000	0.00179|0.00179	ATA|AAT		0.358	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		17	51	0	0	0	0.000566183	0	17	51				
P2RY14	9934	broad.mit.edu	37	3	150931786	150931786	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr3:150931786C>T	ENST00000309170.3	-	3	631	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	MED12L_ENST00000474524.1_Intron|P2RY14_ENST00000424796.2_Missense_Mutation_p.V107I|MED12L_ENST00000273432.4_Intron	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	purinergic receptor P2Y, G-protein coupled, 14	107					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|UDP-activated nucleotide receptor activity (GO:0045029)			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACAATGCTGACGTACATGTTG	0.453																																						ENST00000309170.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)	20						c.(319-321)Gtc>Atc		purinergic receptor P2Y, G-protein coupled, 14							74.0	64.0	67.0					3																	150931786		2203	4300	6503	SO:0001583	missense	9934					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled|UDP-activated nucleotide receptor activity	g.chr3:150931786C>T	D13626	CCDS3156.1	3q21-q25	2012-08-08	2004-07-12	2004-07-14	ENSG00000174944	ENSG00000174944		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	16442	protein-coding gene	gene with protein product		610116	"""G protein-coupled receptor 105"""	GPR105			Standard	NM_014879		Approved	KIAA0001	uc003eys.1	Q15391	OTTHUMG00000159859	ENST00000309170.3:c.319G>A	3.37:g.150931786C>T	ENSP00000308361:p.Val107Ile					P2RY14_ENST00000424796.2_Missense_Mutation_p.V107I|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	p.V107I	NM_001081455.1|NM_014879.3	NP_001074924.1|NP_055694.3	Q15391	P2Y14_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	631	-			107					Q8IYT7	Missense_Mutation	SNP	ENST00000309170.3	37	c.319G>A	CCDS3156.1	.	.	.	.	.	.	.	.	.	.	C	5.579	0.291672	0.10567	.	.	ENSG00000174944	ENST00000309170;ENST00000424796	T;T	0.72725	-0.68;-0.68	5.8	4.92	0.64577	GPCR, rhodopsin-like superfamily (1);	0.093881	0.42821	D	0.000657	T	0.41926	0.1180	N	0.03224	-0.385	0.31518	N	0.662732	B	0.27068	0.167	B	0.17722	0.019	T	0.43442	-0.9391	10	0.48119	T	0.1	-40.3576	5.5463	0.17065	0.0:0.7385:0.0:0.2615	.	107	Q15391	P2Y14_HUMAN	I	107	ENSP00000308361:V107I;ENSP00000408733:V107I	ENSP00000308361:V107I	V	-	1	0	P2RY14	152414476	0.171000	0.23029	0.984000	0.44739	0.976000	0.68499	1.005000	0.29834	2.732000	0.93576	0.650000	0.86243	GTC		0.453	P2RY14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357789.1	NM_014879		8	39	0	0	0	0.000274275	0	8	39				
CELSR1	9620	broad.mit.edu	37	22	46930952	46930952	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr22:46930952C>T	ENST00000262738.3	-	1	2115	c.2116G>A	c.(2116-2118)Gtg>Atg	p.V706M	CELSR1_ENST00000497509.1_5'Flank|CELSR1_ENST00000395964.1_Missense_Mutation_p.V706M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	706	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGGTCAGCACGCTGCTCCCC	0.627																																						ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(2116-2118)Gtg>Atg		cadherin, EGF LAG seven-pass G-type receptor 1							50.0	32.0	38.0					22																	46930952		2202	4296	6498	SO:0001583	missense	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46930952C>T	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.2116G>A	22.37:g.46930952C>T	ENSP00000262738:p.Val706Met					CELSR1_ENST00000395964.1_Missense_Mutation_p.V706M	p.V706M	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	1	2115	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	706			Cadherin 5.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.2116G>A	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608103	0.66558	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.02050	4.48;4.48	4.51	4.51	0.55191	Cadherin (3);Cadherin-like (1);	0.000000	0.64402	U	0.000017	T	0.22551	0.0544	H	0.96691	3.865	0.52501	D	0.999953	D	0.89917	1.0	D	0.97110	1.0	T	0.45041	-0.9288	10	0.87932	D	0	.	16.8582	0.86011	0.0:1.0:0.0:0.0	.	706	Q9NYQ6	CELR1_HUMAN	M	706	ENSP00000262738:V706M;ENSP00000379293:V706M	ENSP00000262738:V706M	V	-	1	0	CELSR1	45309616	1.000000	0.71417	1.000000	0.80357	0.620000	0.37586	7.522000	0.81844	2.067000	0.61834	0.305000	0.20034	GTG		0.627	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		6	28	0	0	0	0.00307968	0	6	28				
HFM1	164045	broad.mit.edu	37	1	91851252	91851252	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr1:91851252T>C	ENST00000370425.3	-	5	732	c.634A>G	c.(634-636)Aaa>Gaa	p.K212E	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	212					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TACTGAAATTTTTGCTTACTA	0.343																																						ENST00000370425.3																			0				breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75						c.(634-636)Aaa>Gaa		HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)							97.0	92.0	94.0					1																	91851252		2203	4300	6503	SO:0001583	missense	164045						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr1:91851252T>C	AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.634A>G	1.37:g.91851252T>C	ENSP00000359454:p.Lys212Glu					HFM1_ENST00000370424.3_Intron|HFM1_ENST00000294696.5_5'UTR	p.K212E	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)	5	732	-		all_lung(203;0.00961)|Lung NSC(277;0.0351)	212					B1B0B6|Q8N9Q0	Missense_Mutation	SNP	ENST00000370425.3	37	c.634A>G	CCDS30769.2	.	.	.	.	.	.	.	.	.	.	T	9.387	1.074579	0.20227	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819;ENST00000427444	T;T	0.60672	0.17;0.56	5.93	4.82	0.62117	.	1.807140	0.06235	U	0.689455	T	0.26629	0.0651	L	0.50333	1.59	0.20196	N	0.999928	P;P	0.48764	0.844;0.915	B;B	0.39465	0.23;0.3	T	0.16041	-1.0416	10	0.06365	T	0.9	.	8.1545	0.31160	0.0:0.1396:0.0:0.8604	.	212;212	B7ZM16;A2PYH4	.;HFM1_HUMAN	E	212;245;71;170	ENSP00000359454:K212E;ENSP00000388900:K170E	ENSP00000359454:K212E	K	-	1	0	HFM1	91623840	0.784000	0.28713	0.058000	0.19502	0.009000	0.06853	1.073000	0.30691	2.281000	0.76405	0.533000	0.62120	AAA		0.343	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316716.2	NM_001017975		7	43	0	0	0	0.00307968	0	7	43				
DNM1P47	100216544	broad.mit.edu	37	15	102304772	102304772	+	RNA	SNP	T	T	C	rs199967915	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr15:102304772T>C	ENST00000561463.1	+	0	12818									DNM1 pseudogene 47																		CACAGCGGCGTGACGAGACTC	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102304772T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102304772T>C														0	12818	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	11	0	0	0	6.4e-05	0	3	11				
ZNF789	285989	broad.mit.edu	37	7	99079801	99079801	+	Intron	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr7:99079801A>C	ENST00000331410.5	+	4	421				ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000448667.1_Intron|ZNF789_ENST00000483089.1_3'UTR|ZNF789_ENST00000379724.3_Missense_Mutation_p.D56A	NM_213603.2	NP_998768.2	Q5FWF6	ZN789_HUMAN	zinc finger protein 789						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ttccagtttgatgctgcaata	0.378																																						ENST00000379724.3																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)	11						c.(166-168)gAt>gCt		zinc finger protein 789							125.0	111.0	116.0					7																	99079801		2203	4297	6500	SO:0001627	intron_variant	285989				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:99079801A>C	AK093141	CCDS34693.1, CCDS34694.1	7q22.1	2013-01-08			ENSG00000198556	ENSG00000198556		"""Zinc fingers, C2H2-type"", ""-"""	27801	protein-coding gene	gene with protein product						12477932	Standard	XM_005250281		Approved		uc003uqq.1	Q5FWF6	OTTHUMG00000154601	ENST00000331410.5:c.152-1852A>C	7.37:g.99079801A>C						ZNF789_ENST00000448667.1_Intron|ZNF789_ENST00000331410.5_Intron|ZNF789_ENST00000493485.1_Intron|ZNF789_ENST00000483089.1_3'UTR	p.D56A	NM_001013258.1	NP_001013276.1	Q5FWF6	ZN789_HUMAN			4	366	+	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		55			KRAB.		A4D282|A6NH61|Q6ZMZ9	Missense_Mutation	SNP	ENST00000331410.5	37	c.167A>C	CCDS34693.1	.	.	.	.	.	.	.	.	.	.	A	2.044	-0.419372	0.04766	.	.	ENSG00000198556	ENST00000379724	T	0.02085	4.46	.	.	.	.	.	.	.	.	T	0.01976	0.0062	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44143	-0.9347	6	0.56958	D	0.05	.	.	.	.	.	56	A6NH61	.	A	56	ENSP00000369047:D56A	ENSP00000369047:D56A	D	+	2	0	ZNF789	98917737	0.003000	0.15002	0.377000	0.26055	0.377000	0.30045	0.352000	0.20113	0.056000	0.16144	0.055000	0.15244	GAT		0.378	ZNF789-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336266.1	NM_213603		11	49	0	0	0	0.000978159	0	11	49				
ZNF398	57541	broad.mit.edu	37	7	148876421	148876421	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr7:148876421C>T	ENST00000475153.1	+	6	1724	c.1457C>T	c.(1456-1458)cCt>cTt	p.P486L	ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L|ZNF398_ENST00000420008.2_Missense_Mutation_p.P315L|ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L|ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L			Q8TD17	ZN398_HUMAN	zinc finger protein 398	486					positive regulation of transcription, DNA-templated (GO:0045893)|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)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TTCTCCTGCCCTCAGTGTGGC	0.612																																						ENST00000420008.2																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25						c.(943-945)cCt>cTt		zinc finger protein 398							58.0	51.0	53.0					7																	148876421		2203	4300	6503	SO:0001583	missense	0				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148876421C>T	AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.1457C>T	7.37:g.148876421C>T	ENSP00000420418:p.Pro486Leu					ZNF398_ENST00000335901.4_Missense_Mutation_p.P315L|ZNF398_ENST00000491174.1_Missense_Mutation_p.P315L|ZNF398_ENST00000475153.1_Missense_Mutation_p.P486L|ZNF398_ENST00000483892.1_Missense_Mutation_p.P315L|ZNF398_ENST00000426851.2_Missense_Mutation_p.P315L|ZNF398_ENST00000540950.1_Missense_Mutation_p.P491L	p.P315L	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00143)		6	1732	+	Melanoma(164;0.15)		486					A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	ENST00000475153.1	37	c.944C>T	CCDS5894.1	.	.	.	.	.	.	.	.	.	.	C	19.83	3.900166	0.72754	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39;2.39;2.39	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000116	T	0.33498	0.0865	L	0.43923	1.385	0.43924	D	0.996577	D;D	0.76494	0.987;0.999	P;D	0.72338	0.732;0.977	T	0.01202	-1.1420	10	0.35671	T	0.21	-17.5667	16.2021	0.82088	0.0:1.0:0.0:0.0	.	491;486	B4DXA9;Q8TD17	.;ZN398_HUMAN	L	315;315;486;315;315;491;315	ENSP00000389972:P315L;ENSP00000416751:P315L;ENSP00000420418:P486L;ENSP00000418564:P315L;ENSP00000419391:P315L;ENSP00000439340:P491L;ENSP00000338984:P315L	ENSP00000338984:P315L	P	+	2	0	ZNF398	148507354	0.000000	0.05858	0.997000	0.53966	0.997000	0.91878	0.574000	0.23714	2.418000	0.82041	0.650000	0.86243	CCT		0.612	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352722.2			12	61	0	0	0	0.00136819	0	12	61				
MUC5B	727897	broad.mit.edu	37	11	1266204	1266204	+	Silent	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr11:1266204G>A	ENST00000529681.1	+	31	8152	c.8094G>A	c.(8092-8094)acG>acA	p.T2698T	MUC5B_ENST00000447027.1_Silent_p.T2701T|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2698	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ctacgatcacggccaccggct	0.622																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(8101-8103)acG>acA		mucin 5B, oligomeric mucus/gel-forming							16.0	28.0	24.0					11																	1266204		1720	3791	5511	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1266204G>A	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.8094G>A	11.37:g.1266204G>A						MUC5B_ENST00000529681.1_Silent_p.T2698T|RP11-532E4.2_ENST00000532061.2_RNA	p.T2701T			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	8161	+		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	2698	Missing (in Ref. 6; AAB61398).		11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.8103G>A	CCDS44515.2																																																																																				0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		3	9	0	0	0	0.000602214	0	3	9				
ADPGK	83440	broad.mit.edu	37	15	73045050	73045050	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr15:73045050G>A	ENST00000311669.8	-	7	1216	c.1123C>T	c.(1123-1125)Ctc>Ttc	p.L375F	ADPGK_ENST00000567733.1_5'Flank|ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	376	ADPK. {ECO:0000255|PROSITE- ProRule:PRU00584}.				glycolytic process (GO:0006096)	extracellular region (GO:0005576)|membrane (GO:0016020)	ADP-specific glucokinase activity (GO:0043843)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						ATCCTGGTGAGATCCGAGGCT	0.552																																						ENST00000311669.8																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						c.(1123-1125)Ctc>Ttc		ADP-dependent glucokinase							88.0	86.0	86.0					15																	73045050		1999	4165	6164	SO:0001583	missense	83440				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding	g.chr15:73045050G>A	AL136873	CCDS42057.1	15q24.1	2012-07-02			ENSG00000159322	ENSG00000159322			25250	protein-coding gene	gene with protein product		611861				11230166	Standard	NM_031284		Approved	DKFZp434B195, ADP-GK	uc002avf.4	Q9BRR6	OTTHUMG00000172777	ENST00000311669.8:c.1123C>T	15.37:g.73045050G>A	ENSP00000312250:p.Leu375Phe					ADPGK_ENST00000456471.2_Missense_Mutation_p.L101F	p.L375F	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN			7	1216	-			376			ADPK.		Q49AU7|Q8NBI1|Q8WZ90|Q96NF8|Q9H0A7	Missense_Mutation	SNP	ENST00000311669.8	37	c.1123C>T	CCDS42057.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.641641	0.87859	.	.	ENSG00000159322	ENST00000311669;ENST00000443764;ENST00000456471;ENST00000331065	T;T	0.58506	0.33;0.33	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.79964	0.4537	M	0.84082	2.675	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.998	T	0.80103	-0.1522	10	0.59425	D	0.04	-30.886	20.5407	0.99260	0.0:0.0:1.0:0.0	.	318;376;375;101	B4DG35;Q9BRR6;Q9BRR6-2;Q9BRR6-4	.;ADPGK_HUMAN;.;.	F	375;295;101;254	ENSP00000312250:L375F;ENSP00000397694:L101F	ENSP00000312250:L375F	L	-	1	0	ADPGK	70832103	1.000000	0.71417	0.998000	0.56505	0.572000	0.35998	9.751000	0.98889	2.865000	0.98341	0.655000	0.94253	CTC		0.552	ADPGK-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000420434.1	NM_031284		11	57	0	0	0	0.00185496	0	11	57				
FAM50B	26240	broad.mit.edu	37	6	3850540	3850540	+	Silent	SNP	C	C	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr6:3850540C>G	ENST00000380274.1	+	1	921	c.495C>G	c.(493-495)ctC>ctG	p.L165L	FAM50B_ENST00000380272.3_Silent_p.L165L			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	165						nucleus (GO:0005634)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGAACCGGCTCCGAGAGGAGC	0.687																																						ENST00000380274.1																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17						c.(493-495)ctC>ctG		family with sequence similarity 50, member B							27.0	29.0	28.0					6																	3850540		2200	4299	6499	SO:0001819	synonymous_variant	26240					nucleus		g.chr6:3850540C>G	Y18504	CCDS4487.1	6p25.2	2008-05-15			ENSG00000145945	ENSG00000145945			18789	protein-coding gene	gene with protein product		614686				10534398	Standard	NM_012135		Approved	D6S2654E, X5L	uc003mvu.3	Q9Y247	OTTHUMG00000014147	ENST00000380274.1:c.495C>G	6.37:g.3850540C>G						FAM50B_ENST00000380272.3_Silent_p.L165L	p.L165L			Q9Y247	FA50B_HUMAN			1	921	+	Ovarian(93;0.0925)	all_hematologic(90;0.108)	165					Q5T2L6	Silent	SNP	ENST00000380274.1	37	c.495C>G	CCDS4487.1																																																																																				0.687	FAM50B-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039693.1	NM_012135		6	47	0	0	0	0.00116845	0	6	47				
TNXB	7148	broad.mit.edu	37	6	32037543	32037543	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr6:32037543C>T	ENST00000375244.3	-	15	5575	c.5374G>A	c.(5374-5376)Gtg>Atg	p.V1792M	TNXB_ENST00000375247.2_Missense_Mutation_p.V1792M			P22105	TENX_HUMAN	tenascin XB	1874	Fibronectin type-III 10. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GAGAGGCCCACGGAGTTCTGG	0.622																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(5374-5376)Gtg>Atg		tenascin XB							23.0	26.0	25.0					6																	32037543		2011	4177	6188	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32037543C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.5374G>A	6.37:g.32037543C>T	ENSP00000364393:p.Val1792Met					TNXB_ENST00000375247.2_Missense_Mutation_p.V1792M	p.V1792M			P22105	TENX_HUMAN			15	5575	-			1874			Fibronectin type-III 10.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.5374G>A		.	.	.	.	.	.	.	.	.	.	C	20.7	4.030932	0.75504	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.59772	0.24;0.24	5.5	5.5	0.81552	.	0.171276	0.28209	N	0.016189	T	0.64886	0.2639	L	0.58925	1.835	0.23984	N	0.996269	D	0.89917	1.0	D	0.91635	0.999	T	0.60105	-0.7328	10	0.48119	T	0.1	.	16.3129	0.82904	0.0:1.0:0.0:0.0	.	1792	P22105-3	.	M	1792	ENSP00000364393:V1792M;ENSP00000364396:V1792M	ENSP00000364393:V1792M	V	-	1	0	TNXB	32145521	0.074000	0.21230	0.994000	0.49952	0.992000	0.81027	0.677000	0.25262	2.598000	0.87819	0.591000	0.81541	GTG		0.622	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		8	22	0	0	0	0.000274275	0	8	22				
OXSR1	9943	broad.mit.edu	37	3	38292947	38292947	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr3:38292947A>G	ENST00000311806.3	+	16	1801	c.1429A>G	c.(1429-1431)Agg>Ggg	p.R477G		NM_005109.2	NP_005100.1			oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GGTCGACGGAAGGGATTTAGT	0.458																																						ENST00000311806.3																			0				skin(1)	1						c.(1429-1431)Agg>Ggg		oxidative stress responsive 1							299.0	271.0	280.0					3																	38292947		2203	4300	6503	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38292947A>G	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000311806.3:c.1429A>G	3.37:g.38292947A>G	ENSP00000311713:p.Arg477Gly						p.R477G	NM_005109.2	NP_005100.1	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	16	1801	+			477						Missense_Mutation	SNP	ENST00000311806.3	37	c.1429A>G	CCDS2675.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.854670	0.51376	.	.	ENSG00000172939	ENST00000311806	T	0.72282	-0.64	5.61	3.01	0.34805	.	0.040777	0.85682	D	0.000000	T	0.61286	0.2335	L	0.39898	1.24	0.58432	D	0.999999	B	0.30326	0.276	B	0.35278	0.199	T	0.56414	-0.7983	10	0.30078	T	0.28	-17.177	10.6357	0.45563	0.6924:0.3075:0.0:0.0	.	477	O95747	OXSR1_HUMAN	G	477	ENSP00000311713:R477G	ENSP00000311713:R477G	R	+	1	2	OXSR1	38267951	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.447000	0.44917	1.025000	0.39708	0.528000	0.53228	AGG		0.458	OXSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253744.1	NM_005109		6	230	0	0	0	0.00198382	0	6	230				
LAMA1	284217	broad.mit.edu	37	18	6943285	6943285	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr18:6943285G>C	ENST00000389658.3	-	62	9054	c.8961C>G	c.(8959-8961)caC>caG	p.H2987Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2987	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				GAGTGATACGGTGTTTGCTTT	0.493																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(8959-8961)caC>caG		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						312.0	247.0	269.0					18																	6943285		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:6943285G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.8961C>G	18.37:g.6943285G>C	ENSP00000374309:p.His2987Gln						p.H2987Q	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			62	9054	-		Colorectal(10;0.172)	2987			Laminin G-like 5.			Missense_Mutation	SNP	ENST00000389658.3	37	c.8961C>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247077	0.39697	.	.	ENSG00000101680	ENST00000389658	T	0.40476	1.03	5.73	2.92	0.33932	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.063724	0.64402	D	0.000016	T	0.54062	0.1835	L	0.54965	1.715	0.36009	D	0.837916	D;D	0.89917	1.0;1.0	D;D	0.81914	0.993;0.995	T	0.61850	-0.6978	10	0.72032	D	0.01	.	7.8622	0.29516	0.4589:0.0:0.5411:0.0	.	2987;317	P25391;B3KSD8	LAMA1_HUMAN;.	Q	2987	ENSP00000374309:H2987Q	ENSP00000374309:H2987Q	H	-	3	2	LAMA1	6933285	1.000000	0.71417	0.995000	0.50966	0.128000	0.20619	2.421000	0.44688	0.757000	0.33036	-0.214000	0.12660	CAC		0.493	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		5	137	0	0	0	0.00198382	0	5	137				
FAM120B	84498	broad.mit.edu	37	6	170639606	170639606	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr6:170639606A>T	ENST00000476287.1	+	4	2093	c.1985A>T	c.(1984-1986)gAc>gTc	p.D662V	FAM120B_ENST00000252510.9_5'UTR|MIR4644_ENST00000579929.1_RNA|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685V|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674V	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	662					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AGGCACCCGGACCTCGTCAGG	0.483																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1984-1986)gAc>gTc		family with sequence similarity 120B							128.0	118.0	121.0					6																	170639606		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170639606A>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1985A>T	6.37:g.170639606A>T	ENSP00000417970:p.Asp662Val					FAM120B_ENST00000537664.1_Missense_Mutation_p.D685V|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674V|FAM120B_ENST00000252510.9_5'UTR	p.D662V	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	4	2093	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	662					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1985A>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	A	21.8	4.205110	0.79127	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.40756	1.02;1.02;1.02	4.96	4.96	0.65561	.	0.228799	0.46145	D	0.000315	T	0.51719	0.1691	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	T	0.58346	-0.7652	10	0.87932	D	0	-30.33	12.8936	0.58087	1.0:0.0:0.0:0.0	.	662;662	Q96EK7;F2Z2E1	F120B_HUMAN;.	V	674;685;662	ENSP00000444125:D674V;ENSP00000440125:D685V;ENSP00000417970:D662V	ENSP00000436640:D662V	D	+	2	0	FAM120B	170481531	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.643000	0.67895	1.866000	0.54105	0.533000	0.62120	GAC		0.483	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		9	83	0	0	0	0.000978159	0	9	83				
NGB	58157	broad.mit.edu	37	14	77737232	77737232	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr14:77737232T>C	ENST00000298352.4	-	1	423	c.49A>G	c.(49-51)Agc>Ggc	p.S17G		NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	neuroglobin	17	Globin.				apoptotic process (GO:0006915)|oxygen transport (GO:0015671)	mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|oxygen transporter activity (GO:0005344)			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)		GGGCTGCGGCTCACTGCCCGC	0.746																																						ENST00000298352.4																			0				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8						c.(49-51)Agc>Ggc		neuroglobin							7.0	7.0	7.0					14																	77737232		2116	4159	6275	SO:0001583	missense	58157					hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity	g.chr14:77737232T>C	AJ245946	CCDS9856.1	14q24.3	2014-06-13			ENSG00000165553	ENSG00000165553			14077	protein-coding gene	gene with protein product		605304				11029004, 17210637	Standard	NM_021257		Approved		uc001xtg.1	Q9NPG2	OTTHUMG00000171558	ENST00000298352.4:c.49A>G	14.37:g.77737232T>C	ENSP00000298352:p.Ser17Gly						p.S17G	NM_021257.3	NP_067080.1	Q9NPG2	NGB_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0273)	1	423	-			17			Globin.			Missense_Mutation	SNP	ENST00000298352.4	37	c.49A>G	CCDS9856.1	.	.	.	.	.	.	.	.	.	.	T	12.07	1.827877	0.32329	.	.	ENSG00000165553	ENST00000298352	D	0.93189	-3.18	4.43	4.43	0.53597	Globin-like (1);Globin, structural domain (1);	0.238021	0.49916	D	0.000136	D	0.85762	0.5772	N	0.15975	0.35	0.40222	D	0.977748	B	0.02656	0.0	B	0.04013	0.001	T	0.81373	-0.0962	10	0.24483	T	0.36	-22.387	12.9587	0.58444	0.0:0.0:0.0:1.0	.	17	Q9NPG2	NGB_HUMAN	G	17	ENSP00000298352:S17G	ENSP00000298352:S17G	S	-	1	0	NGB	76806985	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	2.632000	0.46511	1.757000	0.51966	0.459000	0.35465	AGC		0.746	NGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414194.1	NM_021257		2	5	0	0	0	6.4e-05	0	2	5				
RP11-640M9.2	0	broad.mit.edu	37	1	144598726	144598726	+	RNA	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr1:144598726A>C	ENST00000419820.1	+	0	654																											CATTCGGTGCACCAAGAGCAA	0.572																																						ENST00000419820.1																			0																																																			0							g.chr1:144598726A>C																													1.37:g.144598726A>C														0	654	+									RNA	SNP	ENST00000419820.1	37																																																																																						0.572	RP11-640M9.2-011	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000038365.1			4	28	0	0	0	0.000602214	0	4	28				
KMT2C	58508	broad.mit.edu	37	7	151879331	151879331	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr7:151879331G>A	ENST00000262189.6	-	36	5832	c.5614C>T	c.(5614-5616)Cag>Tag	p.Q1872*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1872*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1872	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGAGAAGTCTGAGCCTGAGAA	0.512																																						ENST00000355193.2																			0											c.(5614-5616)Cag>Tag		lysine (K)-specific methyltransferase 2C							86.0	88.0	87.0					7																	151879331		2203	4300	6503	SO:0001587	stop_gained	58508							g.chr7:151879331G>A	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5614C>T	7.37:g.151879331G>A	ENSP00000262189:p.Gln1872*					KMT2C_ENST00000262189.6_Nonsense_Mutation_p.Q1872*	p.Q1872*							36	5832	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	ENST00000262189.6	37	c.5614C>T	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	G	48	13.956177	0.99772	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	5.41	5.41	0.78517	.	0.000000	0.42821	D	0.000647	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	19.1888	0.93654	0.0:0.0:1.0:0.0	.	.	.	.	X	1872	.	ENSP00000262189:Q1872X	Q	-	1	0	MLL3	151510264	1.000000	0.71417	0.247000	0.24249	0.837000	0.47467	6.700000	0.74619	2.540000	0.85666	0.563000	0.77884	CAG		0.512	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			27	122	0	0	0	0.00395357	0	27	122				
FCRL3	115352	broad.mit.edu	37	1	157648602	157648602	+	Silent	SNP	G	G	A	rs148976786	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr1:157648602G>A	ENST00000368184.3	-	15	2394	c.2103C>T	c.(2101-2103)gaC>gaT	p.D701D	FCRL3_ENST00000368186.5_Silent_p.D701D|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	701						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CTGCAGAGTCGTCTGGGTGTG	0.468													A|||	11	0.00219649	0.0083	0.0	5008	,	,		20558	0.0		0.0	False		,,,				2504	0.0					ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(2101-2103)gaC>gaT		Fc receptor-like 3		A		23,4383	824.2+/-416.5	0,23,2180	117.0	105.0	109.0		2103	-1.3	0.0	1	dbSNP_134	109	0,8600		0,0,4300	no	coding-synonymous	FCRL3	NM_052939.3		0,23,6480	AA,AG,GG		0.0,0.522,0.1768		701/735	157648602	23,12983	2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157648602G>A	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.2103C>T	1.37:g.157648602G>A						FCRL3_ENST00000368186.5_Silent_p.D701D|FCRL3_ENST00000473231.1_5'UTR	p.D701D	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			15	2394	-	all_hematologic(112;0.0378)		701					A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.2103C>T	CCDS1167.1																																																																																				0.468	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		8	51	0	0	0	0.00307968	0	8	51				
CD46	4179	broad.mit.edu	37	1	207940420	207940420	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr1:207940420T>A	ENST00000358170.2	+	6	892	c.736T>A	c.(736-738)Ttt>Att	p.F246I	CD46_ENST00000357714.1_Missense_Mutation_p.F246I|CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000354848.1_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000480003.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	246	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGGAAAAAAATTTTACTACAA	0.378																																						ENST00000358170.2																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						c.(736-738)Ttt>Att		CD46 molecule, complement regulatory protein							71.0	72.0	72.0					1																	207940420		2203	4300	6503	SO:0001583	missense	4179				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	g.chr1:207940420T>A	BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.736T>A	1.37:g.207940420T>A	ENSP00000350893:p.Phe246Ile					CD46_ENST00000322918.5_Missense_Mutation_p.F246I|CD46_ENST00000367047.1_Missense_Mutation_p.F183I|CD46_ENST00000367042.1_Missense_Mutation_p.F246I|CD46_ENST00000367041.1_Missense_Mutation_p.F246I|CD46_ENST00000322875.4_Missense_Mutation_p.F246I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000441839.2_Missense_Mutation_p.F246I|CD46_ENST00000354848.1_Missense_Mutation_p.F246I|CD46_ENST00000360212.2_Missense_Mutation_p.F246I|CD46_ENST00000361067.1_Missense_Mutation_p.F246I|CD46_ENST00000480003.1_Missense_Mutation_p.F246I|CD46_ENST00000357714.1_Missense_Mutation_p.F246I	p.F246I	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN			6	892	+			246			Sushi 4.		A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Missense_Mutation	SNP	ENST00000358170.2	37	c.736T>A	CCDS1485.1	.	.	.	.	.	.	.	.	.	.	T	19.99	3.928559	0.73327	.	.	ENSG00000117335	ENST00000358170;ENST00000354848;ENST00000322918;ENST00000367042;ENST00000367041;ENST00000357714;ENST00000322875;ENST00000367047;ENST00000441839;ENST00000361067;ENST00000360212;ENST00000480003	T;T;T;T;T;T;T;T;T;T;T;T	0.69561	-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41;-0.41	5.14	2.87	0.33458	Complement control module (2);Sushi/SCR/CCP (3);	1.180340	0.06338	N	0.707414	D	0.82701	0.5094	M	0.86502	2.82	0.09310	N	1	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.999;0.998;1.0;0.999;0.998;0.997;0.999;1.0;0.999;1.0;0.999;0.996;0.996;0.998	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91635	0.99;0.958;0.977;0.985;0.942;0.991;0.99;0.986;0.985;0.999;0.985;0.987;0.987;0.995	T	0.60177	-0.7314	10	0.87932	D	0	.	5.9807	0.19405	0.0:0.1973:0.0:0.8027	.	246;246;246;246;246;246;246;246;246;246;246;246;246;246	P15529-4;P15529-5;P15529-14;P15529-3;P15529-12;P15529-13;P15529-2;P15529-11;P15529-7;P15529-9;P15529-15;P15529-6;P15529-8;P15529	.;.;.;.;.;.;.;.;.;.;.;.;.;MCP_HUMAN	I	246;246;246;246;246;246;246;183;246;246;246;246	ENSP00000350893:F246I;ENSP00000346912:F246I;ENSP00000314664:F246I;ENSP00000356009:F246I;ENSP00000356008:F246I;ENSP00000350346:F246I;ENSP00000313875:F246I;ENSP00000356014:F183I;ENSP00000413543:F246I;ENSP00000354358:F246I;ENSP00000353342:F246I;ENSP00000418471:F246I	ENSP00000313875:F246I	F	+	1	0	CD46	206007043	0.001000	0.12720	0.001000	0.08648	0.287000	0.27160	0.935000	0.28924	1.089000	0.41292	0.533000	0.62120	TTT		0.378	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000088588.3	NM_172361		10	45	0	0	0	0.000673444	0	10	45				
LONRF2	164832	broad.mit.edu	37	2	100916210	100916210	+	Missense_Mutation	SNP	G	G	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr2:100916210G>C	ENST00000393437.3	-	5	1875	c.1236C>G	c.(1234-1236)gaC>gaG	p.D412E	LONRF2_ENST00000409647.1_Missense_Mutation_p.D169E	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	412							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						GGGCGTTCAGGTCAGGTGCAT	0.448																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1234-1236)gaC>gaG		LON peptidase N-terminal domain and ring finger 2							87.0	85.0	86.0					2																	100916210		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100916210G>C	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1236C>G	2.37:g.100916210G>C	ENSP00000377086:p.Asp412Glu					LONRF2_ENST00000409647.1_Missense_Mutation_p.D169E	p.D412E	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			5	1875	-			412					B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1236C>G	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	G	7.285	0.609926	0.14066	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.84730	-1.7;-1.89	4.49	-1.58	0.08479	.	1.404240	0.04235	N	0.335975	T	0.75102	0.3804	L	0.47716	1.5	0.09310	N	1	B	0.25563	0.129	B	0.20184	0.028	T	0.58200	-0.7678	10	0.02654	T	1	-12.1851	5.5035	0.16840	0.3434:0.0:0.4834:0.1731	.	412	Q1L5Z9	LONF2_HUMAN	E	412;169	ENSP00000377086:D412E;ENSP00000386823:D169E	ENSP00000377086:D412E	D	-	3	2	LONRF2	100282642	0.000000	0.05858	0.000000	0.03702	0.414000	0.31173	-0.298000	0.08265	-0.227000	0.09884	0.555000	0.69702	GAC		0.448	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		9	94	0	0	0	0.000673444	0	9	94				
ZNF576	79177	broad.mit.edu	37	19	44103213	44103213	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr19:44103213A>C	ENST00000336564.4	+	3	470	c.316A>C	c.(316-318)Act>Cct	p.T106P	ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|IRGQ_ENST00000422989.1_5'Flank|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	106					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				GGTTGCAACCACTACTGCCCA	0.652																																						ENST00000336564.4																			0				endometrium(1)|prostate(1)	2						c.(316-318)Act>Cct		zinc finger protein 576							114.0	94.0	101.0					19																	44103213		2203	4300	6503	SO:0001583	missense	79177				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44103213A>C	AK026353	CCDS12625.1	19q13.31	2013-09-20			ENSG00000124444	ENSG00000124444		"""Zinc fingers, C2H2-type"""	28357	protein-coding gene	gene with protein product						12477932	Standard	NM_024327		Approved	MGC2508	uc002owz.2	Q9H609	OTTHUMG00000165479	ENST00000336564.4:c.316A>C	19.37:g.44103213A>C	ENSP00000337852:p.Thr106Pro					ZNF576_ENST00000533118.1_Missense_Mutation_p.T106P|ZNF576_ENST00000528387.1_Missense_Mutation_p.T106P|SRRM5_ENST00000607544.1_Intron|SRRM5_ENST00000526798.1_Intron|ZNF576_ENST00000529930.1_Missense_Mutation_p.T106P|ZNF576_ENST00000525771.1_Missense_Mutation_p.T106P|ZNF576_ENST00000391965.2_Missense_Mutation_p.T106P	p.T106P	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN			3	470	+		Prostate(69;0.0199)	106					Q9BU03	Missense_Mutation	SNP	ENST00000336564.4	37	c.316A>C	CCDS12625.1	.	.	.	.	.	.	.	.	.	.	A	3.172	-0.169878	0.06461	.	.	ENSG00000124444	ENST00000391965;ENST00000525771;ENST00000533118;ENST00000528387;ENST00000529930;ENST00000336564	T;T;T;T;T;T	0.01304	5.03;5.03;5.03;5.03;5.03;5.03	3.86	-2.19	0.07015	.	1.118350	0.06785	N	0.786062	T	0.01189	0.0039	N	0.13168	0.305	0.29673	N	0.842314	B	0.29909	0.261	B	0.26517	0.07	T	0.45264	-0.9273	10	0.62326	D	0.03	0.3315	9.532	0.39200	0.4178:0.0:0.5822:0.0	.	106	Q9H609	ZN576_HUMAN	P	106	ENSP00000375827:T106P;ENSP00000436182:T106P;ENSP00000435899:T106P;ENSP00000435934:T106P;ENSP00000435463:T106P;ENSP00000337852:T106P	ENSP00000337852:T106P	T	+	1	0	ZNF576	48795053	0.000000	0.05858	0.013000	0.15412	0.047000	0.14425	-0.266000	0.08631	-0.556000	0.06134	0.533000	0.62120	ACT		0.652	ZNF576-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384397.1	NM_024327		9	97	0	0	0	0.000274275	0	9	97				
NPBWR2	2832	broad.mit.edu	37	20	62737951	62737951	+	Silent	SNP	C	C	T	rs142068571		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr20:62737951C>T	ENST00000369768.1	-	1	573	c.234G>A	c.(232-234)acG>acA	p.T78T		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	78					G-protein coupled receptor signaling pathway (GO:0007186)|opioid receptor signaling pathway (GO:0038003)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|opioid receptor activity (GO:0004985)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CGTTGGTCACCGTCTTCATCT	0.617																																						ENST00000369768.1																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(232-234)acG>acA		neuropeptides B/W receptor 2		C		1,4401	2.1+/-5.4	0,1,2200	68.0	56.0	60.0		234	-7.5	0.0	20	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	NPBWR2	NM_005286.2		0,1,6500	TT,TC,CC		0.0,0.0227,0.0077		78/334	62737951	1,13001	2201	4300	6501	SO:0001819	synonymous_variant	2832					plasma membrane	opioid receptor activity|protein binding	g.chr20:62737951C>T	U22492	CCDS13557.1	20q13.3	2012-08-08	2006-02-15	2006-02-15	ENSG00000125522	ENSG00000125522		"""GPCR / Class A : Neuropeptide receptors : W/B"""	4530	protein-coding gene	gene with protein product		600731	"""G protein-coupled receptor 8"""	GPR8		12401809	Standard	NM_005286		Approved		uc011abt.2	P48146	OTTHUMG00000033032	ENST00000369768.1:c.234G>A	20.37:g.62737951C>T							p.T78T	NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN			1	573	-	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)		78					Q6NWQ6|Q9H4K3	Silent	SNP	ENST00000369768.1	37	c.234G>A	CCDS13557.1																																																																																				0.617	NPBWR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080300.1	NM_005286		4	17	0	0	0	0.00024832	0	4	17				
AGAP3	116988	broad.mit.edu	37	7	150839292	150839292	+	Missense_Mutation	SNP	G	G	A	rs199958692		TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr7:150839292G>A	ENST00000463381.1	+	13	1505	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	AGAP3_ENST00000397238.2_Missense_Mutation_p.V668I	NM_001281300.1	NP_001268229.1	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	632	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTGCAGGCCGTCCGCACCGT	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		18505	0.0		0.001	False		,,,				2504	0.0					ENST00000397238.2																			0				central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						c.(2002-2004)Gtc>Atc		ArfGAP with GTPase domain, ankyrin repeat and PH domain 3		G	ILE/VAL	0,4222		0,0,2111	122.0	132.0	128.0		2002	4.9	1.0	7		128	4,8450		0,4,4223	yes	missense	AGAP3	NM_031946.4	29	0,4,6334	AA,AG,GG		0.0473,0.0,0.0316	benign	668/912	150839292	4,12672	2111	4227	6338	SO:0001583	missense	116988				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	g.chr7:150839292G>A	AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000463381.1:c.1009G>A	7.37:g.150839292G>A	ENSP00000418016:p.Val337Ile					AGAP3_ENST00000463381.1_Missense_Mutation_p.V337I	p.V668I	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN			15	2002	+			632			Arf-GAP.		B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	ENST00000463381.1	37	c.2002G>A		.	.	.	.	.	.	.	.	.	.	G	0.606	-0.827098	0.02734	0.0	4.73E-4	ENSG00000133612	ENST00000463381;ENST00000397232;ENST00000397238;ENST00000335355	T;T	0.41065	1.01;1.01	4.87	4.87	0.63330	.	0.356142	0.29980	N	0.010708	T	0.12561	0.0305	N	0.00991	-1.07	0.80722	D	1	B;B;B;B	0.21905	0.016;0.062;0.005;0.006	B;B;B;B	0.21917	0.029;0.037;0.003;0.002	T	0.28106	-1.0054	10	0.02654	T	1	.	8.4175	0.32681	0.0837:0.1565:0.7598:0.0	.	632;167;668;337	Q96P47;E7ETI2;Q96P47-4;B3KNZ8	AGAP3_HUMAN;.;.;.	I	337;167;668;632	ENSP00000418016:V337I;ENSP00000380413:V668I	ENSP00000334157:V632I	V	+	1	0	AGAP3	150470225	0.982000	0.34865	0.960000	0.40013	0.232000	0.25224	2.112000	0.41892	2.403000	0.81681	0.655000	0.94253	GTC		0.622	AGAP3-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000351909.2	NM_031946		42	202	0	0	0	0.00361006	0	42	202				
SORCS2	57537	broad.mit.edu	37	4	7684513	7684513	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr4:7684513A>T	ENST00000507866.2	+	10	1494	c.1385A>T	c.(1384-1386)gAt>gTt	p.D462V	SORCS2_ENST00000329016.9_Missense_Mutation_p.D290V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	462					neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CAAAAAATTGATGGGAAAGTG	0.468																																						ENST00000507866.2																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1384-1386)gAt>gTt		sortilin-related VPS10 domain containing receptor 2							97.0	90.0	92.0					4																	7684513		1881	4114	5995	SO:0001583	missense	57537					integral to membrane	neuropeptide receptor activity	g.chr4:7684513A>T	AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.1385A>T	4.37:g.7684513A>T	ENSP00000422185:p.Asp462Val					SORCS2_ENST00000329016.9_Missense_Mutation_p.D290V	p.D462V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN			10	1494	+			462					Q9P2L7	Missense_Mutation	SNP	ENST00000507866.2	37	c.1385A>T	CCDS47008.1	.	.	.	.	.	.	.	.	.	.	A	19.34	3.808692	0.70797	.	.	ENSG00000184985	ENST00000507866;ENST00000329016	T;T	0.43688	0.94;0.94	4.59	4.59	0.56863	VPS10 (1);	0.139284	0.24165	U	0.040947	T	0.64605	0.2613	M	0.85041	2.73	0.80722	D	1	P;D	0.64830	0.955;0.994	P;P	0.61070	0.754;0.883	T	0.72174	-0.4370	10	0.87932	D	0	.	14.14	0.65313	1.0:0.0:0.0:0.0	.	290;462	B5MED8;Q96PQ0	.;SORC2_HUMAN	V	462;290	ENSP00000422185:D462V;ENSP00000329124:D290V	ENSP00000329124:D290V	D	+	2	0	SORCS2	7735413	1.000000	0.71417	0.204000	0.23530	0.797000	0.45037	7.912000	0.87465	1.921000	0.55644	0.460000	0.39030	GAT		0.468	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358685.4	NM_020777		7	25	0	0	0	0.00198382	0	7	25				
ATL3	25923	broad.mit.edu	37	11	63398754	63398754	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr11:63398754C>T	ENST00000398868.3	-	12	1573	c.1297G>A	c.(1297-1299)Ggt>Agt	p.G433S	ATL3_ENST00000332645.4_Missense_Mutation_p.G460S|ATL3_ENST00000538786.1_Missense_Mutation_p.G415S	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	433					endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						TTCTTGCTACCATTGTGCTTG	0.493																																						ENST00000398868.3																			0				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						c.(1297-1299)Ggt>Agt		atlastin GTPase 3							126.0	126.0	126.0					11																	63398754		1941	4153	6094	SO:0001583	missense	25923				endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding	g.chr11:63398754C>T		CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.1297G>A	11.37:g.63398754C>T	ENSP00000381844:p.Gly433Ser					ATL3_ENST00000538786.1_Missense_Mutation_p.G415S|ATL3_ENST00000332645.4_Missense_Mutation_p.G460S	p.G433S	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN			12	1573	-			433					Q8N7W5|Q9H8Q5|Q9UFL1	Missense_Mutation	SNP	ENST00000398868.3	37	c.1297G>A	CCDS41663.1	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987629	0.35036	.	.	ENSG00000184743	ENST00000398868;ENST00000332645;ENST00000538786	D;D;D	0.91631	-2.88;-2.88;-2.88	5.51	-1.41	0.08941	Guanylate-binding protein, C-terminal (3);	0.549004	0.20320	N	0.094644	T	0.72803	0.3506	N	0.01352	-0.895	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.66756	-0.5843	10	0.44086	T	0.13	-19.328	5.9574	0.19281	0.0:0.4376:0.1341:0.4283	.	433	Q6DD88	ATLA3_HUMAN	S	433;460;415	ENSP00000381844:G433S;ENSP00000329034:G460S;ENSP00000437593:G415S	ENSP00000329034:G460S	G	-	1	0	ATL3	63155330	0.000000	0.05858	0.001000	0.08648	0.968000	0.65278	0.473000	0.22132	0.046000	0.15833	0.655000	0.94253	GGT		0.493	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396637.1	NM_015459		5	95	0	0	0	0.00116845	0	5	95				
DDX60L	91351	broad.mit.edu	37	4	169337892	169337892	+	Missense_Mutation	SNP	A	A	C			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr4:169337892A>C	ENST00000511577.1	-	20	2914	c.2667T>G	c.(2665-2667)atT>atG	p.I889M	DDX60L_ENST00000260184.7_Missense_Mutation_p.I889M|DDX60L_ENST00000505890.1_Missense_Mutation_p.I889M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	889	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.						ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GACATCGAATAATGACAAGGA	0.358																																						ENST00000511577.1																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						c.(2665-2667)atT>atG		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							104.0	101.0	102.0					4																	169337892		1843	4122	5965	SO:0001583	missense	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169337892A>C	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.2667T>G	4.37:g.169337892A>C	ENSP00000422423:p.Ile889Met					DDX60L_ENST00000260184.7_Missense_Mutation_p.I889M|DDX60L_ENST00000505890.1_Missense_Mutation_p.I889M	p.I889M			Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	20	2914	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	889			Helicase ATP-binding.		Q96ND6	Missense_Mutation	SNP	ENST00000511577.1	37	c.2667T>G		.	.	.	.	.	.	.	.	.	.	A	0.011	-1.709175	0.00712	.	.	ENSG00000181381	ENST00000260184;ENST00000511577;ENST00000505890;ENST00000505863	T;T;T;T	0.71579	-0.58;-0.58;1.03;1.03	3.23	1.39	0.22231	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.364605	0.19473	N	0.113381	T	0.27798	0.0684	N	0.00608	-1.33	0.22710	N	0.998821	B;B;B	0.16166	0.016;0.009;0.016	B;B;B	0.10450	0.005;0.005;0.005	T	0.37641	-0.9697	10	0.02654	T	1	.	3.9394	0.09319	0.1966:0.5793:0.0:0.2241	.	889;889;889	E9PAP8;D6R906;Q5H9U9	.;.;DDX6L_HUMAN	M	889;889;889;585	ENSP00000260184:I889M;ENSP00000422423:I889M;ENSP00000422202:I889M;ENSP00000421026:I585M	ENSP00000260184:I889M	I	-	3	3	DDX60L	169574467	0.999000	0.42202	0.265000	0.24526	0.846000	0.48090	0.327000	0.19663	0.034000	0.15491	-0.662000	0.03851	ATT		0.358	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		15	84	0	0	0	0.000566183	0	15	84				
CP	1356	broad.mit.edu	37	3	148896263	148896263	+	Silent	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr3:148896263A>G	ENST00000264613.6	-	16	3079	c.2817T>C	c.(2815-2817)tcT>tcC	p.S939S		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	939	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	CGGGGTGATCAGAGTATGTTT	0.323																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2815-2817)tcT>tcC		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						130.0	121.0	124.0					3																	148896263		2203	4300	6503	SO:0001819	synonymous_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148896263A>G	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2817T>C	3.37:g.148896263A>G							p.S939S	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		16	3079	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	939			F5/8 type A 3.|Plastocyanin-like 6.		Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	c.2817T>C	CCDS3141.1																																																																																				0.323	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		6	94	0	0	0	0.00198382	0	6	94				
DIS3	22894	broad.mit.edu	37	13	73347832	73347832	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr13:73347832C>T	ENST00000377767.4	-	8	1329	c.1229G>A	c.(1228-1230)aGa>aAa	p.R410K	DIS3_ENST00000377780.4_Missense_Mutation_p.R380K|DIS3_ENST00000545453.1_Missense_Mutation_p.R248K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 exosome endoribonuclease and 3'-5' exoribonuclease	410					CUT catabolic process (GO:0071034)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of GTPase activity (GO:0043547)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|endonuclease activity (GO:0004519)|guanyl-nucleotide exchange factor activity (GO:0005085)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATTTGGATATCTGGAATTTCT	0.323										Multiple Myeloma(4;0.011)																												ENST00000377767.4																			0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35						c.(1228-1230)aGa>aAa		DIS3 mitotic control homolog (S. cerevisiae)							90.0	89.0	90.0					13																	73347832		2202	4300	6502	SO:0001583	missense	22894				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding	g.chr13:73347832C>T	AB023225	CCDS9447.1, CCDS45057.1	13q21.32	2014-03-05	2014-03-05	2007-01-12	ENSG00000083520	ENSG00000083520			20604	protein-coding gene	gene with protein product	"""exosome component 11"""	607533	"""KIAA1008"", ""DIS3 mitotic control homolog (S. cerevisiae)"""	KIAA1008		11935316, 9562621	Standard	XM_005266294		Approved	dis3p, RRP44, EXOSC11	uc001vix.4	Q9Y2L1	OTTHUMG00000017070	ENST00000377767.4:c.1229G>A	13.37:g.73347832C>T	ENSP00000366997:p.Arg410Lys	Multiple Myeloma(4;0.011)				DIS3_ENST00000377780.4_Missense_Mutation_p.R380K|DIS3_ENST00000545453.1_Missense_Mutation_p.R248K	p.R410K	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN		GBM - Glioblastoma multiforme(99;0.000181)	8	1329	-		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)	410					A6NI21|B2RBL2|Q5W0P7|Q5W0P8|Q658Z7|Q7Z481|Q8WWI2|Q9UG36	Missense_Mutation	SNP	ENST00000377767.4	37	c.1229G>A	CCDS9447.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.243153	0.79912	.	.	ENSG00000083520	ENST00000377767;ENST00000377780;ENST00000545453	T;T;T	0.20881	2.04;2.04;2.04	5.49	4.65	0.58169	.	0.040366	0.85682	N	0.000000	T	0.26593	0.0650	L	0.37897	1.145	0.80722	D	1	P;P	0.39862	0.692;0.565	P;B	0.51266	0.664;0.217	T	0.02371	-1.1169	10	0.11485	T	0.65	.	14.6692	0.68932	0.0:0.9297:0.0:0.0703	.	380;410	Q9Y2L1-2;Q9Y2L1	.;RRP44_HUMAN	K	410;380;248	ENSP00000366997:R410K;ENSP00000367011:R380K;ENSP00000440058:R248K	ENSP00000366997:R410K	R	-	2	0	DIS3	72245833	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.373000	0.79623	1.466000	0.48025	0.650000	0.86243	AGA		0.323	DIS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045250.2	NM_014953		10	42	0	0	0	0.000442599	0	10	42				
HELB	92797	broad.mit.edu	37	12	66698883	66698883	+	Missense_Mutation	SNP	A	A	G			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr12:66698883A>G	ENST00000247815.4	+	2	619	c.560A>G	c.(559-561)gAa>gGa	p.E187G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	187					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AATGGTCAGGAAGAGTTGTTC	0.353																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(559-561)gAa>gGa		helicase (DNA) B							72.0	69.0	70.0					12																	66698883		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66698883A>G	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.560A>G	12.37:g.66698883A>G	ENSP00000247815:p.Glu187Gly						p.E187G	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	2	619	+			187					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.560A>G	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	A	11.76	1.736080	0.30774	.	.	ENSG00000127311	ENST00000247815	T	0.12465	2.68	4.54	3.42	0.39159	.	1.406020	0.04460	N	0.374339	T	0.10337	0.0253	L	0.27053	0.805	0.09310	N	1	B	0.31125	0.309	B	0.21917	0.037	T	0.14420	-1.0473	9	.	.	.	-2.2485	8.088	0.30784	0.9016:0.0:0.0984:0.0	.	187	Q8NG08	HELB_HUMAN	G	187	ENSP00000247815:E187G	.	E	+	2	0	HELB	64985150	0.001000	0.12720	0.009000	0.14445	0.005000	0.04900	1.329000	0.33770	2.030000	0.59900	0.454000	0.30748	GAA		0.353	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			10	72	0	0	0	0.000673444	0	10	72				
GJA8	2703	broad.mit.edu	37	1	147380335	147380335	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr1:147380335G>A	ENST00000369235.1	+	1	253	c.253G>A	c.(253-255)Gtc>Atc	p.V85I	GJA8_ENST00000240986.4_Missense_Mutation_p.V85I			P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	85					cell-cell signaling (GO:0007267)|lens development in camera-type eye (GO:0002088)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	connexon complex (GO:0005922)|integral component of plasma membrane (GO:0005887)	channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GATCATCTTCGTCTCCACCCC	0.637																																					Melanoma(76;1255 1795 8195 52096)	ENST00000240986.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37						c.(253-255)Gtc>Atc		gap junction protein, alpha 8, 50kDa							138.0	107.0	118.0					1																	147380335		2203	4300	6503	SO:0001583	missense	2703				cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity	g.chr1:147380335G>A	U34802	CCDS30834.1	1q21.1	2008-02-05	2007-01-16		ENSG00000121634	ENSG00000121634		"""Ion channels / Gap junction proteins (connexins)"""	4281	protein-coding gene	gene with protein product	"""connexin 50"""	600897	"""gap junction protein, alpha 8, 50kD (connexin 50)"", ""gap junction protein, alpha 8, 50kDa (connexin 50)"""	CAE1, CZP1, CAE		9497259, 7796604	Standard	NM_005267		Approved	CX50	uc001epu.2	P48165	OTTHUMG00000024085	ENST00000369235.1:c.253G>A	1.37:g.147380335G>A	ENSP00000358238:p.Val85Ile					GJA8_ENST00000369235.1_Missense_Mutation_p.V85I	p.V85I	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN			2	306	+	all_hematologic(923;0.0276)		85					A7L5M5|Q5VVN9|Q9NP25	Missense_Mutation	SNP	ENST00000369235.1	37	c.253G>A	CCDS30834.1	.	.	.	.	.	.	.	.	.	.	g	23.7	4.446399	0.84101	.	.	ENSG00000121634	ENST00000240986;ENST00000369235	D;D	0.99298	-5.71;-5.71	5.2	4.26	0.50523	Connexin, N-terminal (1);	0.207319	0.40640	N	0.001047	D	0.99177	0.9715	M	0.80616	2.505	0.47905	D	0.999549	D	0.89917	1.0	D	0.69654	0.965	D	0.99282	1.0896	10	0.87932	D	0	.	12.8855	0.58040	0.0827:0.0:0.9173:0.0	.	85	P48165	CXA8_HUMAN	I	85	ENSP00000240986:V85I;ENSP00000358238:V85I	ENSP00000240986:V85I	V	+	1	0	GJA8	145846959	1.000000	0.71417	0.989000	0.46669	0.989000	0.77384	5.732000	0.68563	1.109000	0.41680	0.491000	0.48974	GTC		0.637	GJA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060647.1	NM_005267		10	80	0	0	0	0.00136819	0	10	80				
KLF4	9314	broad.mit.edu	37	9	110250242	110250242	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr9:110250242G>T	ENST00000374672.4	-	3	906	c.433C>A	c.(433-435)Ccc>Acc	p.P145T		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	145	Ser-rich.				cellular response to cycloheximide (GO:0071409)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to peptide (GO:1901653)|epidermal cell differentiation (GO:0009913)|epidermis morphogenesis (GO:0048730)|fat cell differentiation (GO:0045444)|mesodermal cell fate determination (GO:0007500)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine (C-X-C motif) ligand 2 production (GO:2000342)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of heterotypic cell-cell adhesion (GO:0034115)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of muscle hyperplasia (GO:0014740)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of response to cytokine stimulus (GO:0060761)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic camera-type eye development (GO:0031077)|post-embryonic hemopoiesis (GO:0035166)|regulation of cell differentiation (GO:0045595)|response to retinoic acid (GO:0032526)|stem cell maintenance (GO:0019827)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|double-stranded DNA binding (GO:0003690)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sequence-specific DNA binding transcription factor recruiting transcription factor activity (GO:0001010)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CAGGTGGAGGGCGCGCTGGCA	0.721																																						ENST00000374672.4																			0				breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						c.(433-435)Ccc>Acc		Kruppel-like factor 4 (gut)							13.0	10.0	11.0					9																	110250242		2169	4270	6439	SO:0001583	missense	9314				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr9:110250242G>T	AF022184	CCDS6770.2	9q31	2013-01-08			ENSG00000136826	ENSG00000136826		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	6348	protein-coding gene	gene with protein product		602253				9422764, 16372018	Standard	NM_004235		Approved	EZF, GKLF	uc004bdg.3	O43474	OTTHUMG00000020449	ENST00000374672.4:c.433C>A	9.37:g.110250242G>T	ENSP00000363804:p.Pro145Thr						p.P145T	NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN			3	906	-			145			Ser-rich.		B2R8S4|B3KT79|L0R3I6|L0R4N5|P78338|Q5T3J8|Q5T3J9|Q8N717|Q9UNP3	Missense_Mutation	SNP	ENST00000374672.4	37	c.433C>A	CCDS6770.2	.	.	.	.	.	.	.	.	.	.	G	21.4	4.149794	0.78001	.	.	ENSG00000136826	ENST00000374672;ENST00000411706	T	0.06768	3.26	5.26	5.26	0.73747	.	0.000000	0.42821	D	0.000660	T	0.07234	0.0183	L	0.27053	0.805	0.44508	D	0.997455	P;P	0.48764	0.915;0.903	B;B	0.43052	0.23;0.406	T	0.45366	-0.9266	10	0.21540	T	0.41	.	11.9355	0.52870	0.0803:0.0:0.9197:0.0	.	145;145	O43474;O43474-1	KLF4_HUMAN;.	T	145;136	ENSP00000363804:P145T	ENSP00000363804:P145T	P	-	1	0	KLF4	109290063	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	2.610000	0.46325	2.442000	0.82660	0.655000	0.94253	CCC		0.721	KLF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053556.2	NM_004235		3	11	1	0	0.00024832	0.00024832	0.00139733	3	11				
FAM120B	84498	broad.mit.edu	37	6	170639605	170639605	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr6:170639605G>T	ENST00000476287.1	+	4	2092	c.1984G>T	c.(1984-1986)Gac>Tac	p.D662Y	FAM120B_ENST00000252510.9_5'UTR|MIR4644_ENST00000579929.1_RNA|FAM120B_ENST00000537664.1_Missense_Mutation_p.D685Y|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674Y	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	662					cell differentiation (GO:0030154)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GAGGCACCCGGACCTCGTCAG	0.483																																						ENST00000476287.1																			0				endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44						c.(1984-1986)Gac>Tac		family with sequence similarity 120B							127.0	117.0	121.0					6																	170639605		2203	4300	6503	SO:0001583	missense	84498				cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr6:170639605G>T	AB058741	CCDS5314.1, CCDS75555.1	6q27	2011-04-13	2006-07-04	2006-07-04	ENSG00000112584	ENSG00000112584			21109	protein-coding gene	gene with protein product	"""PPARgamma constitutive coactivator 1"", ""constitutive coactivator of PPAR-gamma"""	612266	"""KIAA1838"""	KIAA1838		14585507	Standard	NM_032448		Approved	PGCC1, CCPG	uc003qxp.3	Q96EK7	OTTHUMG00000016080	ENST00000476287.1:c.1984G>T	6.37:g.170639605G>T	ENSP00000417970:p.Asp662Tyr					FAM120B_ENST00000537664.1_Missense_Mutation_p.D685Y|FAM120B_ENST00000540480.1_Missense_Mutation_p.D674Y|FAM120B_ENST00000252510.9_5'UTR	p.D662Y	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)	4	2092	+		Breast(66;0.000338)|Esophageal squamous(34;0.241)	662					B4DL34|Q86V68|Q96JI9	Missense_Mutation	SNP	ENST00000476287.1	37	c.1984G>T	CCDS5314.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212243	0.79240	.	.	ENSG00000112584	ENST00000540480;ENST00000537664;ENST00000476287	T;T;T	0.42900	0.96;0.96;0.96	4.96	4.96	0.65561	.	0.228799	0.46145	D	0.000315	T	0.55065	0.1897	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.60239	-0.7302	10	0.87932	D	0	-30.33	16.0104	0.80399	0.0:0.0:1.0:0.0	.	662;662	Q96EK7;F2Z2E1	F120B_HUMAN;.	Y	674;685;662	ENSP00000444125:D674Y;ENSP00000440125:D685Y;ENSP00000417970:D662Y	ENSP00000436640:D662Y	D	+	1	0	FAM120B	170481530	1.000000	0.71417	0.995000	0.50966	0.991000	0.79684	5.945000	0.70226	2.300000	0.77407	0.655000	0.94253	GAC		0.483	FAM120B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000043259.2	NM_032448		9	83	1	0	5.16669e-11	0.000978159	3.1188e-10	9	83				
FAM196A	642938	broad.mit.edu	37	10	128973908	128973908	+	Missense_Mutation	SNP	G	G	A	rs377391223	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr10:128973908G>A	ENST00000522781.1	-	4	1307	c.752C>T	c.(751-753)aCg>aTg	p.T251M	DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	251										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCAACCTCCGTTTTAAACAC	0.657													G|||	2	0.000399361	0.0	0.0	5008	,	,		15461	0.0		0.0	False		,,,				2504	0.002					ENST00000522781.1																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(751-753)aCg>aTg		family with sequence similarity 196, member A		G	MET/THR,	1,4403	2.1+/-5.4	0,1,2201	21.0	23.0	23.0		752,	4.0	0.7	10		23	0,8600		0,0,4300	no	missense,intron	DOCK1,FAM196A	NM_001039762.2,NM_001380.3	81,	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,	251/480,	128973908	1,13003	2202	4300	6502	SO:0001583	missense	642938							g.chr10:128973908G>A		CCDS31312.1	10q26.2	2009-09-11	2009-09-11	2009-09-11		ENSG00000188916			33859	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 141"""	C10orf141			Standard	NM_001039762		Approved	FLJ45557	uc001ljv.1	Q6ZSG2		ENST00000522781.1:c.752C>T	10.37:g.128973908G>A	ENSP00000429763:p.Thr251Met					DOCK1_ENST00000280333.6_Intron|FAM196A_ENST00000424811.2_Missense_Mutation_p.T251M	p.T251M	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN			4	1307	-			251					B2RNT4|B7ZME7	Missense_Mutation	SNP	ENST00000522781.1	37	c.752C>T	CCDS31312.1	.	.	.	.	.	.	.	.	.	.	G	14.57	2.575891	0.45902	2.27E-4	0.0	ENSG00000188916	ENST00000522781;ENST00000424811	T;T	0.47528	0.84;0.84	4.02	4.02	0.46733	.	0.234553	0.43919	D	0.000508	T	0.65101	0.2659	M	0.69823	2.125	0.43381	D	0.995488	D;D	0.89917	1.0;0.999	D;P	0.72982	0.979;0.903	T	0.68659	-0.5350	10	0.87932	D	0	.	12.5521	0.56231	0.0:0.0:0.8332:0.1668	.	251;251	B7ZME7;Q6ZSG2	.;F196A_HUMAN	M	251	ENSP00000429763:T251M;ENSP00000428730:T251M	ENSP00000428730:T251M	T	-	2	0	FAM196A	128863898	0.998000	0.40836	0.702000	0.30337	0.309000	0.27889	2.909000	0.48758	2.530000	0.85305	0.563000	0.77884	ACG		0.657	FAM196A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050978.2	NM_001039762		6	41	0	0	0	0.00116845	0	6	41				
MAGOH	4116	broad.mit.edu	37	1	53692751	53692752	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr1:53692751_53692752delAG	ENST00000371470.3	-	5	567_568	c.406_407delCT	c.(406-408)cttfs	p.L136fs	MAGOH_ENST00000371466.4_Frame_Shift_Del_p.L99fs|RP5-1024G6.7_ENST00000569869.1_RNA	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	136					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						TAATCCAATAAGACTGAAGACC	0.376																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(406-408)tfs		mago-nashi homolog, proliferation-associated (Drosophila)																																				SO:0001589	frameshift_variant	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692751_53692752delAG	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.406_407delCT	1.37:g.53692751_53692752delAG	ENSP00000360525:p.Leu136fs					MAGOH_ENST00000371466.4_Frame_Shift_Del_p.L99fs	p.L136fs	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	567_568	-			136					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Frame_Shift_Del	DEL	ENST00000371470.3	37	c.406_407delCT	CCDS577.1																																																																																				0.376	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		8	34						8	34	---	---	---	---
MRPS25	64432	broad.mit.edu	37	3	15094107	15094108	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr3:15094107_15094108insT	ENST00000253686.2	-	4	502_503	c.362_363insA	c.(361-363)aagfs	p.K121fs	MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.S92fs|MRPS25_ENST00000496484.1_5'Flank|MRPS25_ENST00000449354.2_Intron	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	121						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						GAGAAAGCTGCTTTTTCTCCTC	0.579																																						ENST00000253686.2																			0				large_intestine(1)|lung(1)	2						c.(361-363)acafs		mitochondrial ribosomal protein S25																																				SO:0001589	frameshift_variant	64432				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:15094107_15094108insT	AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"""Mitochondrial ribosomal proteins / small subunits"""	14511	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S25"""	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.363dupA	3.37:g.15094112_15094112dupT	ENSP00000253686:p.Lys121fs					MRPS25_ENST00000449354.2_Intron|MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.Q92fs	p.T121fs	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN			4	502_503	-			121					B4DFJ5|B4DQG6|Q9H7P5	Frame_Shift_Ins	INS	ENST00000253686.2	37	c.362_363insA	CCDS2622.1																																																																																				0.579	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252076.2	NM_022497		16	261						16	261	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26886127	26886127	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr5:26886127delT	ENST00000231021.4	-	10	1750	c.1578delA	c.(1576-1578)gaafs	p.E526fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGGCACTGGTTCAAAAAAGA	0.313																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1576-1578)gafs		cadherin 9, type 2 (T1-cadherin)							75.0	86.0	82.0					5																	26886127		2202	4300	6502	SO:0001589	frameshift_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26886127delT	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1578delA	5.37:g.26886127delT	ENSP00000231021:p.Glu526fs						p.E526fs	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			10	1750	-			526			Cadherin 5.		Q3B7I5	Frame_Shift_Del	DEL	ENST00000231021.4	37	c.1578delA	CCDS3893.1																																																																																				0.313	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		33	171						33	171	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74306378	74306378	+	RNA	DEL	C	C	-	rs587771482	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr7:74306378delC	ENST00000423186.1	-	0	296							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GGGCGGGGGGCCCCGCGCTCC	0.731													cccc|CCCC|CCC|deletion	11	0.00219649	0.0	0.0029	5008	,	,		12673	0.0		0.0089	False		,,,				2504	0.0					ENST00000423186.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5																																														0					nucleus	binding	g.chr7:74306378delC			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74306378delC										P0CL84	ST3L2_HUMAN			0	296	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.731	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		4	5						4	5	---	---	---	---
DUSP13	51207	broad.mit.edu	37	10	76855428	76855429	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr10:76855428_76855429insAA	ENST00000472493.2	-	3	376_377	c.298_299insTT	c.(298-300)tatfs	p.Y100fs	DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.Y150fs|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.Y122fs|DUSP13_ENST00000491677.2_Frame_Shift_Ins_p.Y229fs|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000464872.1_Intron|DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.Y236fs|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.Y193fs	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	100					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTCGATGCCATAGTACTCCAGG	0.559																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(685-687)tggfs		dual specificity phosphatase 13																																				SO:0001589	frameshift_variant	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76855428_76855429insAA	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.298_299insTT	10.37:g.76855428_76855429insAA	ENSP00000444580:p.Tyr100fs					DUSP13_ENST00000472493.2_Frame_Shift_Ins_p.W100fs|DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.W150fs|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.W122fs|DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.W236fs|DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.W193fs|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000464872.1_Intron	p.W229fs	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			7	1227_1228	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		91					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Frame_Shift_Ins	INS	ENST00000472493.2	37	c.685_686insTT	CCDS7346.1																																																																																				0.559	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			35	178						35	178	---	---	---	---
TRAV9-2	28677	broad.mit.edu	37	14	22409533	22409539	+	RNA	DEL	CTCTCTC	CTCTCTC	-	rs374912343|rs371270332|rs2178778|rs587678559|rs201742006|rs367992314	byFrequency	TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr14:22409533_22409539delCTCTCTC	ENST00000390441.2	+	0	102									T cell receptor alpha variable 9-2																		ctctctctctctctctctTTTTTTTTT	0.415																																						ENST00000390441.2																			0																																																			0							g.chr14:22409533_22409539delCTCTCTC	AE000659		14q11.2	2012-02-07			ENSG00000211793	ENSG00000211793		"""T cell receptors / TRA locus"""	12154	other	T cell receptor gene						8188290	Standard	NG_001332		Approved				OTTHUMG00000170637		14.37:g.22409533_22409539delCTCTCTC														0	102	+									RNA	DEL	ENST00000390441.2	37																																																																																						0.415	TRAV9-2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000409885.1	NG_001332		5	3						5	3	---	---	---	---
CEP112	201134	broad.mit.edu	37	17	63739297	63739297	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	3ec3e955-a945-47a2-917e-9a042e66e800	g.chr17:63739297delT	ENST00000392769.2	-	23	2714	c.2496delA	c.(2494-2496)aaafs	p.K832fs	CEP112_ENST00000541355.1_Intron|CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000317442.8_Frame_Shift_Del_p.K88fs	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	832					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TGTTCTCTTCTTTCAGAGAGG	0.408																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2494-2496)aafs		centrosomal protein 112kDa							82.0	83.0	83.0					17																	63739297		2203	4300	6503	SO:0001589	frameshift_variant	201134					centrosome		g.chr17:63739297delT	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2496delA	17.37:g.63739297delT	ENSP00000376522:p.Lys832fs					CEP112_ENST00000541355.1_Intron|CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000317442.8_Frame_Shift_Del_p.K88fs	p.K832fs	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			23	2714	-			832					Q6PIB5|Q8NCR4|Q8NFR4	Frame_Shift_Del	DEL	ENST00000392769.2	37	c.2496delA	CCDS32710.1																																																																																				0.408	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		40	152						40	152	---	---	---	---
PRAMEF22	653606	broad.mit.edu	37	1	13036267	13036267	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr1:13036267delT	ENST00000376187.1	+	2	339	c.339delT	c.(337-339)aatfs	p.N113fs	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	113					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						TTGATGAGAATTTTTGGACCA	0.537																																						ENST00000376187.1																			0				kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						c.(337-339)aafs		PRAME family member 22							6.0	11.0	10.0					1																	13036267		674	3028	3702	SO:0001589	frameshift_variant	653606							g.chr1:13036267delT			1p36.21	2013-01-17			ENSG00000204508			"""-"""	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.339delT	1.37:g.13036267delT	ENSP00000365358:p.Asn113fs					PRAMEF6_ENST00000376192.5_Intron	p.N113fs	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN			2	339	+			113					A6NMM3	Frame_Shift_Del	DEL	ENST00000376187.1	37	c.339delT	CCDS41256.1																																																																																				0.537	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158511.1	NM_001100631		7	359						7	359	---	---	---	---
MAGOH	4116	broad.mit.edu	37	1	53692751	53692752	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr1:53692751_53692752delAG	ENST00000371470.3	-	5	567_568	c.406_407delCT	c.(406-408)cttfs	p.L136fs	MAGOH_ENST00000371466.4_Frame_Shift_Del_p.L99fs|RP5-1024G6.7_ENST00000569869.1_RNA	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	136					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						TAATCCAATAAGACTGAAGACC	0.376																																					Colon(150;521 2416 7674 18129)	ENST00000371470.3																			0				haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						c.(406-408)tfs		mago-nashi homolog, proliferation-associated (Drosophila)																																				SO:0001589	frameshift_variant	4116				mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding	g.chr1:53692751_53692752delAG	AF035940	CCDS577.1	1p32.3	2010-04-16	2001-11-28		ENSG00000162385	ENSG00000162385			6815	protein-coding gene	gene with protein product		602603	"""mago-nashi (Drosophila) homolog, proliferation-associated"""			9479507	Standard	NM_002370		Approved	MAGOHA, MAGOH1	uc001cvf.2	P61326	OTTHUMG00000008932	ENST00000371470.3:c.406_407delCT	1.37:g.53692751_53692752delAG	ENSP00000360525:p.Leu136fs					MAGOH_ENST00000371466.4_Frame_Shift_Del_p.L99fs	p.L136fs	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN			5	567_568	-			136					B1ARP8|B2R5A2|O35169|P50606|Q5SW69	Frame_Shift_Del	DEL	ENST00000371470.3	37	c.406_407delCT	CCDS577.1																																																																																				0.376	MAGOH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024730.1	NM_002370		8	34						8	34	---	---	---	---
MRPS25	64432	broad.mit.edu	37	3	15094107	15094108	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr3:15094107_15094108insT	ENST00000253686.2	-	4	502_503	c.362_363insA	c.(361-363)aagfs	p.K121fs	MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.S92fs|MRPS25_ENST00000496484.1_5'Flank|MRPS25_ENST00000449354.2_Intron	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN	mitochondrial ribosomal protein S25	121						mitochondrion (GO:0005739)|ribosome (GO:0005840)				large_intestine(1)|lung(1)	2						GAGAAAGCTGCTTTTTCTCCTC	0.579																																						ENST00000253686.2																			0				large_intestine(1)|lung(1)	2						c.(361-363)acafs		mitochondrial ribosomal protein S25																																				SO:0001589	frameshift_variant	64432				translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome	g.chr3:15094107_15094108insT	AB061208	CCDS2622.1	3p25	2012-09-13			ENSG00000131368	ENSG00000131368		"""Mitochondrial ribosomal proteins / small subunits"""	14511	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S25"""	611987				11279123	Standard	NM_022497		Approved	MRP-S25, FLJ00023, DKFZp313H0817, RPMS25	uc003bzl.3	P82663	OTTHUMG00000129836	ENST00000253686.2:c.363dupA	3.37:g.15094112_15094112dupT	ENSP00000253686:p.Lys121fs					MRPS25_ENST00000449354.2_Intron|MRPS25_ENST00000444840.2_Frame_Shift_Ins_p.Q92fs	p.T121fs	NM_022497.3	NP_071942.1	P82663	RT25_HUMAN			4	502_503	-			121					B4DFJ5|B4DQG6|Q9H7P5	Frame_Shift_Ins	INS	ENST00000253686.2	37	c.362_363insA	CCDS2622.1																																																																																				0.579	MRPS25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252076.2	NM_022497		16	261						16	261	---	---	---	---
CDH9	1007	broad.mit.edu	37	5	26886127	26886127	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr5:26886127delT	ENST00000231021.4	-	10	1750	c.1578delA	c.(1576-1578)gaafs	p.E526fs		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGGCACTGGTTCAAAAAAGA	0.313																																					Melanoma(8;187 585 15745 40864 52829)	ENST00000231021.4																			0				breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						c.(1576-1578)gafs		cadherin 9, type 2 (T1-cadherin)							75.0	86.0	82.0					5																	26886127		2202	4300	6502	SO:0001589	frameshift_variant	1007				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:26886127delT	AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.1578delA	5.37:g.26886127delT	ENSP00000231021:p.Glu526fs						p.E526fs	NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN			10	1750	-			526			Cadherin 5.		Q3B7I5	Frame_Shift_Del	DEL	ENST00000231021.4	37	c.1578delA	CCDS3893.1																																																																																				0.313	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207352.1	NM_016279		33	171						33	171	---	---	---	---
E2F5	1875	broad.mit.edu	37	8	86129664	86129664	+	IGR	DEL	T	T	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr8:86129664delT	ENST00000416274.2	+	0	1728				C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000417663.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs	NM_001083588.1|NM_001951.3	NP_001077057.1|NP_001942.2	Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding						gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|organ morphogenesis (GO:0009887)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						AGCCTTAAAGTTTTTTTGGCT	0.343																																						ENST00000417663.2																			0											c.(64-66)acfs		chromosome 8 open reading frame 59							196.0	178.0	184.0					8																	86129664		1818	4077	5895	SO:0001628	intergenic_variant	401466							g.chr8:86129664delT	X86097	CCDS47885.1, CCDS47886.1, CCDS55254.1	8q21.2	2004-01-29			ENSG00000133740	ENSG00000133740			3119	protein-coding gene	gene with protein product		600967				7892279	Standard	NM_001083588		Approved		uc003ycz.4	Q15329	OTTHUMG00000164785		8.37:g.86129664delT						C8orf59_ENST00000421308.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518091.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000545322.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000431163.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000524353.1_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000458398.2_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000321777.5_Frame_Shift_Del_p.N22fs|C8orf59_ENST00000518562.1_Frame_Shift_Del_p.N22fs	p.N22fs	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143.1	Q8N0T1	CH059_HUMAN			2	136	-			22					E9PBN9|Q16601|Q92756	Frame_Shift_Del	DEL	ENST00000416274.2	37	c.65delA	CCDS47885.1																																																																																				0.343	E2F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380274.1	NM_001951		8	276						8	276	---	---	---	---
DUSP13	51207	broad.mit.edu	37	10	76855428	76855429	+	Frame_Shift_Ins	INS	-	-	AA			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr10:76855428_76855429insAA	ENST00000472493.2	-	3	376_377	c.298_299insTT	c.(298-300)tatfs	p.Y100fs	DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.Y150fs|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.Y122fs|DUSP13_ENST00000491677.2_Frame_Shift_Ins_p.Y229fs|DUSP13_ENST00000607009.1_5'Flank|DUSP13_ENST00000464872.1_Intron|DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.Y236fs|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.Y193fs	NM_016364.3	NP_057448.3	Q9UII6	DS13B_HUMAN	dual specificity phosphatase 13	100					meiotic nuclear division (GO:0007126)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CTCGATGCCATAGTACTCCAGG	0.559																																					NSCLC(174;1655 2059 12324 40663 42963)	ENST00000491677.2																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(685-687)tggfs		dual specificity phosphatase 13																																				SO:0001589	frameshift_variant	0					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76855428_76855429insAA	AB027004	CCDS7346.1, CCDS31224.1, CCDS53542.1	10q23.1	2013-10-25			ENSG00000079393	ENSG00000079393		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	19681	protein-coding gene	gene with protein product		613191				10585869	Standard	XM_005269883		Approved	BEDP, TMDP, FLJ32450, DUSP13A, DUSP13B	uc001jwu.3	Q6B8I1	OTTHUMG00000018516	ENST00000472493.2:c.298_299insTT	10.37:g.76855428_76855429insAA	ENSP00000444580:p.Tyr100fs					DUSP13_ENST00000464872.1_Intron|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000605915.1_Frame_Shift_Ins_p.W122fs|DUSP13_ENST00000372700.3_Frame_Shift_Ins_p.W150fs|DUSP13_ENST00000607131.1_Frame_Shift_Ins_p.W193fs|DUSP13_ENST00000478873.2_Frame_Shift_Ins_p.W236fs|DUSP13_ENST00000472493.2_Frame_Shift_Ins_p.W100fs	p.W229fs	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN			7	1227_1228	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		91					A8K776|A8K782|B3KPY1|B3KXT0|B4DUK0|Q5JSC6|Q6IAR0|Q96GC2	Frame_Shift_Ins	INS	ENST00000472493.2	37	c.685_686insTT	CCDS7346.1																																																																																				0.559	DUSP13-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048786.3			35	178						35	178	---	---	---	---
CEP112	201134	broad.mit.edu	37	17	63739297	63739297	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EJ-7123-01A-11D-1961-08	TCGA-EJ-7123-11A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fa166681-7b67-4137-822c-f90e30c628f9	a4dd9f7b-e2a7-40f3-8e19-667f7fd42150	g.chr17:63739297delT	ENST00000392769.2	-	23	2714	c.2496delA	c.(2494-2496)aaafs	p.K832fs	CEP112_ENST00000541355.1_Intron|CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000580482.1_5'UTR|CEP112_ENST00000317442.8_Frame_Shift_Del_p.K88fs	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	832					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						TGTTCTCTTCTTTCAGAGAGG	0.408																																						ENST00000392769.2																			0				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						c.(2494-2496)aafs		centrosomal protein 112kDa							82.0	83.0	83.0					17																	63739297		2203	4300	6503	SO:0001589	frameshift_variant	201134					centrosome		g.chr17:63739297delT	AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.2496delA	17.37:g.63739297delT	ENSP00000376522:p.Lys832fs					CEP112_ENST00000541355.1_Intron|CEP112_ENST00000535342.2_Frame_Shift_Del_p.K832fs|CEP112_ENST00000537949.1_Frame_Shift_Del_p.K790fs|CEP112_ENST00000317442.8_Frame_Shift_Del_p.K88fs|CEP112_ENST00000580482.1_5'UTR	p.K832fs	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN			23	2714	-			832					Q6PIB5|Q8NCR4|Q8NFR4	Frame_Shift_Del	DEL	ENST00000392769.2	37	c.2496delA	CCDS32710.1																																																																																				0.408	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446582.1	NM_145036		40	152						40	152	---	---	---	---
