#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
SYNM	23336	broad.mit.edu	37	15	99670214	99670214	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr15:99670214G>C	ENST00000560674.1	+	4	1260	c.791G>C	c.(790-792)aGa>aCa	p.R264T	SYNM_ENST00000336292.6_Missense_Mutation_p.R549T|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.R549T			O15061	SYNEM_HUMAN	synemin, intermediate filament protein	550	Coil 2.|Interaction with DMD and UTRN.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	adherens junction (GO:0005912)|costamere (GO:0043034)|intermediate filament (GO:0005882)|membrane (GO:0016020)|neurofilament cytoskeleton (GO:0060053)	intermediate filament binding (GO:0019215)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						AAGGAAGCGAGACAGAGAGAA	0.463																																					Pancreas(125;1071 1762 21750 40003 40381)	ENST00000336292.6																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(6)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	29						c.(1645-1647)aGa>aCa		synemin, intermediate filament protein							49.0	52.0	51.0					15																	99670214		2006	4176	6182	SO:0001583	missense	23336				intermediate filament cytoskeleton organization	adherens junction|costamere|intermediate filament|neurofilament cytoskeleton	intermediate filament binding|structural constituent of cytoskeleton|structural constituent of muscle|vinculin binding	g.chr15:99670214G>C	AK026420	CCDS73786.1, CCDS73787.1	15q26.3	2014-09-17	2008-09-19	2008-09-19	ENSG00000182253	ENSG00000182253		"""A-kinase anchor proteins"", ""Intermediate filaments type IV"""	24466	protein-coding gene	gene with protein product	"""synemin alpha"", ""synemin beta"""	606087	"""desmuslin"""	DMN		11737198, 11454237	Standard	NM_145728		Approved	KIAA0353, SYN	uc002bup.3	O15061		ENST00000560674.1:c.791G>C	15.37:g.99670214G>C	ENSP00000453040:p.Arg264Thr					SYNM_ENST00000328642.7_Missense_Mutation_p.R549T|SYNM_ENST00000560674.1_Missense_Mutation_p.R264T|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR	p.R549T	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN			5	1766	+			550			Tail.		A7E2Y2|Q2TBJ4|Q5NJJ9|Q8TE61|Q8TE62	Missense_Mutation	SNP	ENST00000560674.1	37	c.1646G>C		.	.	.	.	.	.	.	.	.	.	G	22.3	4.274920	0.80580	.	.	ENSG00000182253	ENST00000336292;ENST00000328642	T;T	0.57907	0.37;0.37	5.77	5.77	0.91146	.	.	.	.	.	T	0.72374	0.3452	.	.	.	0.09310	N	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.941	T	0.64158	-0.6473	8	0.36615	T	0.2	.	18.9709	0.92715	0.0:0.0:1.0:0.0	.	550;549	O15061;C9JIE4	SYNEM_HUMAN;.	T	549	ENSP00000336775:R549T;ENSP00000330469:R549T	ENSP00000330469:R549T	R	+	2	0	SYNM	97487737	0.033000	0.19621	0.008000	0.14137	0.153000	0.21895	2.126000	0.42026	2.728000	0.93425	0.655000	0.94253	AGA		0.463	SYNM-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000415698.2	NM_145728		5	27	0	0	0	1	0	5	27				
NFE2L3	9603	broad.mit.edu	37	7	26224372	26224372	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:26224372C>A	ENST00000056233.3	+	4	1313	c.1054C>A	c.(1054-1056)Cct>Act	p.P352T		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	352					transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TACCACCAATCCTGAGCAAAC	0.408																																						ENST00000056233.3																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						c.(1054-1056)Cct>Act		nuclear factor, erythroid 2-like 3							94.0	88.0	90.0					7																	26224372		2203	4300	6503	SO:0001583	missense	9603				transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chr7:26224372C>A	AB010812	CCDS5396.1	7p15.2	2013-08-23	2013-08-23		ENSG00000050344	ENSG00000050344		"""basic leucine zipper proteins"""	7783	protein-coding gene	gene with protein product		604135	"""nuclear factor (erythroid-derived 2)-like 3"""			10037736	Standard	NM_004289		Approved	Nrf3	uc003sxq.3	Q9Y4A8	OTTHUMG00000023882	ENST00000056233.3:c.1054C>A	7.37:g.26224372C>A	ENSP00000056233:p.Pro352Thr						p.P352T	NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN			4	1313	+			352					Q6NUS0|Q7Z498|Q86UJ4|Q86VR5|Q9UQA4	Missense_Mutation	SNP	ENST00000056233.3	37	c.1054C>A	CCDS5396.1	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.300193	0.01364	.	.	ENSG00000050344	ENST00000056233;ENST00000398175	T	0.30714	1.52	5.12	1.18	0.20946	.	1.928600	0.01951	N	0.042600	T	0.21387	0.0515	L	0.33485	1.01	0.09310	N	1	B	0.21381	0.055	B	0.12837	0.008	T	0.10200	-1.0640	10	0.21540	T	0.41	-4.7488	1.7225	0.02915	0.1405:0.4459:0.1372:0.2763	.	352	Q9Y4A8	NF2L3_HUMAN	T	352;58	ENSP00000056233:P352T	ENSP00000056233:P352T	P	+	1	0	NFE2L3	26190897	0.000000	0.05858	0.298000	0.25002	0.966000	0.64601	-1.372000	0.02570	0.257000	0.21650	0.591000	0.81541	CCT		0.408	NFE2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214088.1			35	125	1	0	6.50621e-10	1	6.8973e-10	35	125				
FANCM	57697	broad.mit.edu	37	14	45644788	45644788	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:45644788C>G	ENST00000267430.5	+	14	2916	c.2831C>G	c.(2830-2832)tCt>tGt	p.S944C	FANCM_ENST00000542564.2_Missense_Mutation_p.S918C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	944					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GTTTTAGATTCTGGTTATAAC	0.289								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000267430.5																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						c.(2830-2832)tCt>tGt	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group M							60.0	67.0	65.0					14																	45644788		2200	4291	6491	SO:0001583	missense	57697	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding	g.chr14:45644788C>G	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.2831C>G	14.37:g.45644788C>G	ENSP00000267430:p.Ser944Cys					FANCM_ENST00000542564.2_Missense_Mutation_p.S918C	p.S944C	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN			14	2916	+			944					B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	ENST00000267430.5	37	c.2831C>G	CCDS32070.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.551886	0.65311	.	.	ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250	T;T;T	0.24538	2.47;2.47;1.85	5.24	5.24	0.73138	.	0.428422	0.26677	N	0.023071	T	0.48466	0.1501	M	0.63843	1.955	0.36278	D	0.855606	D;D	0.89917	0.999;1.0	D;D	0.68192	0.936;0.956	T	0.57075	-0.7873	10	0.66056	D	0.02	.	16.6584	0.85235	0.0:1.0:0.0:0.0	.	918;944	B2RTQ9;Q8IYD8	.;FANCM_HUMAN	C	944;918;460	ENSP00000267430:S944C;ENSP00000442493:S918C;ENSP00000452033:S460C	ENSP00000267430:S944C	S	+	2	0	FANCM	44714538	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.435000	0.44811	2.582000	0.87167	0.591000	0.81541	TCT		0.289	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410474.1	XM_048128		70	115	0	0	0	1	0	70	115				
OR5AS1	219447	broad.mit.edu	37	11	55798196	55798196	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:55798196T>A	ENST00000313555.1	+	1	302	c.302T>A	c.(301-303)aTg>aAg	p.M101K		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					GCACTACAAATGTTTTTCTTC	0.453																																						ENST00000313555.1																			0				endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48						c.(301-303)aTg>aAg		olfactory receptor, family 5, subfamily AS, member 1							99.0	86.0	91.0					11																	55798196		2201	4296	6497	SO:0001583	missense	219447				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55798196T>A	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.302T>A	11.37:g.55798196T>A	ENSP00000324111:p.Met101Lys						p.M101K	NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN			1	302	+	Esophageal squamous(21;0.00693)		101					Q6IFB8	Missense_Mutation	SNP	ENST00000313555.1	37	c.302T>A	CCDS31516.1	.	.	.	.	.	.	.	.	.	.	T	14.42	2.530035	0.45073	.	.	ENSG00000181785	ENST00000313555	T	0.00408	7.54	5.46	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42172	U	0.000753	T	0.00468	0.0015	M	0.75085	2.285	0.27482	N	0.95254	P	0.42827	0.791	B	0.37650	0.255	T	0.41413	-0.9510	10	0.72032	D	0.01	.	10.3193	0.43756	0.0:0.0789:0.0:0.9211	.	101	Q8N127	O5AS1_HUMAN	K	101	ENSP00000324111:M101K	ENSP00000324111:M101K	M	+	2	0	OR5AS1	55554772	0.870000	0.30015	0.993000	0.49108	0.794000	0.44872	1.813000	0.38962	0.897000	0.36392	0.523000	0.50628	ATG		0.453	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391538.1	NM_001001921		22	83	0	0	0	1	0	22	83				
NFE2L1	4779	broad.mit.edu	37	17	46136934	46136934	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:46136934C>T	ENST00000362042.3	+	6	2866	c.2250C>T	c.(2248-2250)ctC>ctT	p.L750L	RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000585291.1_Silent_p.L720L|NFE2L1_ENST00000582155.1_Silent_p.L562L|NFE2L1_ENST00000583378.1_Silent_p.L551L|NFE2L1_ENST00000361665.3_Silent_p.L739L|NFE2L1_ENST00000357480.5_Silent_p.L720L|NFE2L1_ENST00000536222.1_Silent_p.L594L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	750					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGTCCTCCTCATCCCCCGCA	0.647																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(2248-2250)ctC>ctT		nuclear factor, erythroid 2-like 1							45.0	48.0	47.0					17																	46136934		2203	4300	6503	SO:0001819	synonymous_variant	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46136934C>T	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.2250C>T	17.37:g.46136934C>T						NFE2L1_ENST00000582155.1_Silent_p.L562L|NFE2L1_ENST00000583378.1_Silent_p.L551L|NFE2L1_ENST00000536222.1_Silent_p.L594L|NFE2L1_ENST00000361665.3_Silent_p.L739L|NFE2L1_ENST00000357480.5_Silent_p.L720L|NFE2L1_ENST00000585291.1_Silent_p.L720L	p.L750L	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			6	2866	+			750					D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	ENST00000362042.3	37	c.2250C>T	CCDS11524.1																																																																																				0.647	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		33	47	0	0	0	1	0	33	47				
HSP90AB2P	391634	broad.mit.edu	37	4	13338406	13338406	+	RNA	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:13338406A>G	ENST00000602906.1	+	0	424							Q58FF8	H90B2_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 2, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			kidney(3)|lung(1)	4						TCTCATAAATAATTTGGGAAC	0.428																																						ENST00000602906.1																			0				kidney(3)|lung(1)	4																																														391634							g.chr4:13338406A>G	AY956763		4p15.33	2012-04-18	2011-04-15		ENSG00000205940	ENSG00000205940			32537	pseudogene	pseudogene			"""heat shock protein 90kDa alpha (cytosolic), class B member 2 (pseudogene)"""			16269234	Standard	NG_032979		Approved	HSP90BB		Q58FF8			4.37:g.13338406A>G														0	424	+									RNA	SNP	ENST00000602906.1	37																																																																																						0.428	HSP90AB2P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000359156.2			27	81	0	0	0	1	0	27	81				
HES6	55502	broad.mit.edu	37	2	239147933	239147933	+	Missense_Mutation	SNP	G	G	T	rs200331477		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:239147933G>T	ENST00000409160.3	-	3	577	c.445C>A	c.(445-447)Cgc>Agc	p.R149S	HES6_ENST00000409182.1_Intron|HES6_ENST00000409002.3_Intron|HES6_ENST00000409574.1_Intron|HES6_ENST00000409356.1_Intron|HES6_ENST00000272937.5_Intron|AC096574.4_ENST00000456601.1_RNA	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2			hes family bHLH transcription factor 6											lung(1)|skin(1)	2		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)		CGTCCCGCGCGGTGAGCGGCG	0.771																																						ENST00000409160.3																			0				lung(1)|skin(1)	2						c.(445-447)Cgc>Agc		hes family bHLH transcription factor 6							6.0	7.0	7.0					2																	239147933		1961	3790	5751	SO:0001583	missense	55502				cell differentiation	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr2:239147933G>T	AB035179	CCDS2527.1, CCDS46556.1, CCDS63180.1	2q37.3	2013-10-17	2013-10-17		ENSG00000144485	ENSG00000144485		"""Basic helix-loop-helix proteins"""	18254	protein-coding gene	gene with protein product		610331	"""hairy and enhancer of split 6 (Drosophila)"""			10851137	Standard	XM_005246095		Approved	bHLHb41	uc002vxz.3	Q96HZ4	OTTHUMG00000133340	ENST00000409160.3:c.445C>A	2.37:g.239147933G>T	ENSP00000387215:p.Arg149Ser					HES6_ENST00000409002.3_Intron|AC096574.4_ENST00000456601.1_RNA|HES6_ENST00000409574.1_Intron|HES6_ENST00000272937.5_Intron|HES6_ENST00000409182.1_Intron|HES6_ENST00000409356.1_Intron	p.R149S	NM_001142853.1|NM_018645.4	NP_001136325.1|NP_061115.2	Q96HZ4	HES6_HUMAN		Epithelial(121;3.23e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.29e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.19e-08)|BRCA - Breast invasive adenocarcinoma(100;5.98e-05)|Lung(119;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.0148)	3	577	-		Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)	0						Missense_Mutation	SNP	ENST00000409160.3	37	c.445C>A		.	.	.	.	.	.	.	.	.	.	g	6.391	0.440198	0.12104	.	.	ENSG00000144485	ENST00000409160;ENST00000450098	T	0.73258	-0.73	1.84	-3.67	0.04476	.	.	.	.	.	T	0.49184	0.1542	.	.	.	0.20638	N	0.999877	B	0.10296	0.003	B	0.10450	0.005	T	0.24835	-1.0149	8	0.44086	T	0.13	.	0.6049	0.00751	0.2495:0.145:0.172:0.4335	.	149	Q96HZ4-2	.	S	149;120	ENSP00000387215:R149S	ENSP00000387215:R149S	R	-	1	0	HES6	238812672	0.003000	0.15002	0.002000	0.10522	0.690000	0.40134	0.800000	0.27042	-1.642000	0.01521	0.290000	0.19541	CGC		0.771	HES6-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000328359.1	NM_018645		5	11	1	0	4.096e-09	1	4.27217e-09	5	11				
KCNK5	8645	broad.mit.edu	37	6	39161971	39161971	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:39161971G>T	ENST00000359534.3	-	4	946	c.608C>A	c.(607-609)aCc>aAc	p.T203N		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	203					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GAAGCCGATGGTGGAGATGGT	0.552																																						ENST00000359534.3																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						c.(607-609)aCc>aAc		potassium channel, subfamily K, member 5							138.0	114.0	122.0					6																	39161971		2203	4300	6503	SO:0001583	missense	8645				excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39161971G>T	AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.608C>A	6.37:g.39161971G>T	ENSP00000352527:p.Thr203Asn						p.T203N	NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN			4	946	-			203					B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	ENST00000359534.3	37	c.608C>A	CCDS4841.1	.	.	.	.	.	.	.	.	.	.	G	25.7	4.664456	0.88251	.	.	ENSG00000164626	ENST00000359534	T	0.70164	-0.46	5.68	4.8	0.61643	Ion transport 2 (1);	0.091785	0.85682	D	0.000000	D	0.84437	0.5472	H	0.95816	3.725	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.89880	0.4029	10	0.87932	D	0	.	15.9061	0.79430	0.0:0.0:0.8637:0.1363	.	203	O95279	KCNK5_HUMAN	N	203	ENSP00000352527:T203N	ENSP00000352527:T203N	T	-	2	0	KCNK5	39269949	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	9.776000	0.99001	1.370000	0.46153	0.561000	0.74099	ACC		0.552	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040449.1	NM_003740		15	64	1	0	4.14922e-12	1	4.44723e-12	15	64				
CIITA	4261	broad.mit.edu	37	16	11010264	11010264	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:11010264G>T	ENST00000324288.8	+	15	3143	c.3010G>T	c.(3010-3012)Gtc>Ttc	p.V1004F	CIITA_ENST00000381835.5_Missense_Mutation_p.V420F	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	1004					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						GGACGAGGGTGTCTCGCAGCT	0.617			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																	ENST00000324288.8				Dom	yes		16	16p13	4261	T	"""class II, major histocompatibility complex, transactivator"""			L	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""		"""PMBL, Hodgkin Lymphona, """		0				central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						c.(3010-3012)Gtc>Ttc		class II, major histocompatibility complex, transactivator							62.0	49.0	54.0					16																	11010264		2197	4300	6497	SO:0001583	missense	4261				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	g.chr16:11010264G>T	U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.3010G>T	16.37:g.11010264G>T	ENSP00000316328:p.Val1004Phe					CIITA_ENST00000381835.5_Missense_Mutation_p.V420F	p.V1004F	NM_000246.3	NP_000237.2	P33076	C2TA_HUMAN			15	3143	+			1004					A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	c.3010G>T	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	21.5	4.157208	0.78114	.	.	ENSG00000179583	ENST00000324288;ENST00000381835	T;T	0.54279	0.58;0.58	5.02	5.02	0.67125	.	0.000000	0.48767	D	0.000163	T	0.65964	0.2742	L	0.47716	1.5	0.38500	D	0.948191	D;D;P	0.89917	1.0;1.0;0.743	D;D;P	0.79784	0.991;0.993;0.783	T	0.70472	-0.4862	10	0.62326	D	0.03	.	15.0701	0.72030	0.0:0.0:1.0:0.0	.	420;1004;1004	E9PFE0;A0N0N9;P33076	.;.;C2TA_HUMAN	F	1004;420	ENSP00000316328:V1004F;ENSP00000371257:V420F	ENSP00000316328:V1004F	V	+	1	0	CIITA	10917765	0.984000	0.35163	0.697000	0.30258	0.804000	0.45430	4.930000	0.63462	2.328000	0.79073	0.462000	0.41574	GTC		0.617	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246		6	23	1	0	0.00116845	1	0.0011868	6	23				
PKHD1L1	93035	broad.mit.edu	37	8	110516713	110516713	+	Silent	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:110516713T>C	ENST00000378402.5	+	68	11090	c.10986T>C	c.(10984-10986)ccT>ccC	p.P3662P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3662					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACATAGGCCTGATATAAGGT	0.303										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(10984-10986)ccT>ccC		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							30.0	27.0	28.0					8																	110516713		1791	4045	5836	SO:0001819	synonymous_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110516713T>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.10986T>C	8.37:g.110516713T>C		HNSCC(38;0.096)					p.P3662P	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		68	11090	+			3662					Q567P2|Q9UF27	Silent	SNP	ENST00000378402.5	37	c.10986T>C	CCDS47911.1																																																																																				0.303	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		11	22	0	0	0	1	0	11	22				
TTN	7273	broad.mit.edu	37	2	179594238	179594238	+	Silent	SNP	G	G	A	rs372400829		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:179594238G>A	ENST00000591111.1	-	62	17918	c.17694C>T	c.(17692-17694)gaC>gaT	p.D5898D	TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Silent_p.D6215D|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Silent_p.D4971D|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12694	Ig-like 40.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGCTCCACGTCACTATATT	0.453																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(18643-18645)gaC>gaT		titin		G	,,,	0,3744		0,0,1872	112.0	103.0	106.0		,14913,,	-9.5	0.5	2		106	1,8213		0,1,4106	no	intron,coding-synonymous,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	,,,	0,1,5978	AA,AG,GG		0.0122,0.0,0.0084	,,,	,4971/33424,,	179594238	1,11957	1872	4107	5979	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179594238G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.17694C>T	2.37:g.179594238G>A						TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Silent_p.D4971D|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Silent_p.D5898D|TTN-AS1_ENST00000585451.1_RNA	p.D6215D	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		64	18869	-			5898			Ig-like 43.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.18645C>T																																																																																					0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		55	63	0	0	0	1	0	55	63				
CHRNG	1146	broad.mit.edu	37	2	233410327	233410327	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:233410327C>G	ENST00000389494.3	+	12	1476	c.1455C>G	c.(1453-1455)atC>atG	p.I485M	CHRNG_ENST00000389492.3_Missense_Mutation_p.I433M	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	485					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	CGCTCTTCATCTGTGGCACAG	0.637																																						ENST00000389494.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(1453-1455)atC>atG		cholinergic receptor, nicotinic, gamma (muscle)							128.0	101.0	110.0					2																	233410327		2203	4300	6503	SO:0001583	missense	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233410327C>G	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1455C>G	2.37:g.233410327C>G	ENSP00000374145:p.Ile485Met					CHRNG_ENST00000389492.3_Missense_Mutation_p.I433M	p.I485M	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	12	1476	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	485					B3KWM8|Q14DU4|Q53RG2	Missense_Mutation	SNP	ENST00000389494.3	37	c.1455C>G	CCDS33400.1	.	.	.	.	.	.	.	.	.	.	C	8.213	0.800739	0.16397	.	.	ENSG00000196811	ENST00000389494;ENST00000541596;ENST00000389492	D;D	0.86297	-2.1;-2.1	4.53	3.65	0.41850	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.995524	0.08147	N	0.990619	D	0.87958	0.6309	M	0.66439	2.03	0.21386	N	0.9997	B;B	0.32324	0.364;0.03	B;B	0.41571	0.36;0.04	T	0.78046	-0.2357	10	0.56958	D	0.05	.	6.6036	0.22714	0.0:0.6655:0.1618:0.1727	.	433;485	Q14DU4;P07510	.;ACHG_HUMAN	M	485;485;433	ENSP00000374145:I485M;ENSP00000374143:I433M	ENSP00000374143:I433M	I	+	3	3	CHRNG	233118571	0.996000	0.38824	0.997000	0.53966	0.383000	0.30230	0.451000	0.21779	0.886000	0.36113	-0.379000	0.06801	ATC		0.637	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		39	32	0	0	0	1	0	39	32				
HECTD1	25831	broad.mit.edu	37	14	31576780	31576780	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:31576780G>C	ENST00000399332.1	-	37	7099	c.6611C>G	c.(6610-6612)tCt>tGt	p.S2204C	HECTD1_ENST00000553700.1_Missense_Mutation_p.S2204C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2204	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TACGTGACGAGATTCATCATC	0.398																																						ENST00000399332.1																			0				breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70						c.(6610-6612)tCt>tGt		HECT domain containing E3 ubiquitin protein ligase 1							78.0	72.0	74.0					14																	31576780		1873	4116	5989	SO:0001583	missense	25831				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity	g.chr14:31576780G>C	AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.6611C>G	14.37:g.31576780G>C	ENSP00000382269:p.Ser2204Cys					HECTD1_ENST00000553700.1_Missense_Mutation_p.S2204C	p.S2204C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)	37	7099	-	Hepatocellular(127;0.0877)|Breast(36;0.176)		2204			HECT.		D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Missense_Mutation	SNP	ENST00000399332.1	37	c.6611C>G	CCDS41939.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.6|21.6	4.178431|4.178431	0.78564|0.78564	.|.	.|.	ENSG00000092148|ENSG00000092148	ENST00000554882|ENST00000553700;ENST00000261312;ENST00000399332	.|T;T	.|0.46819	.|0.86;0.86	5.55|5.55	5.55|5.55	0.83447|0.83447	.|HECT (4);	.|0.000000	.|0.64402	.|U	.|0.000005	T|T	0.59878|0.59878	0.2226|0.2226	L|L	0.49126|0.49126	1.545|1.545	0.80722|0.80722	D|D	1|1	.|D	.|0.63046	.|0.992	.|P	.|0.57425	.|0.82	T|T	0.61028|0.61028	-0.7145|-0.7145	5|10	.|0.62326	.|D	.|0.03	-11.5924|-11.5924	17.6743|17.6743	0.88226|0.88226	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|2204	.|Q9ULT8	.|HECD1_HUMAN	V|C	570|2204;2206;2204	.|ENSP00000450697:S2204C;ENSP00000382269:S2204C	.|ENSP00000261312:S2206C	L|S	-|-	1|2	0|0	HECTD1|HECTD1	30646531|30646531	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	9.392000|9.392000	0.97252|0.97252	2.606000|2.606000	0.88127|0.88127	0.591000|0.591000	0.81541|0.81541	CTC|TCT		0.398	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409942.1			40	54	0	0	0	1	0	40	54				
OR5M3	219482	broad.mit.edu	37	11	56237461	56237461	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:56237461C>G	ENST00000312240.2	-	1	553	c.513G>C	c.(511-513)gaG>gaC	p.E171D		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AATGGTTGATCTCAATTTTTC	0.403																																						ENST00000312240.2																			0				NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37						c.(511-513)gaG>gaC		olfactory receptor, family 5, subfamily M, member 3							117.0	105.0	109.0					11																	56237461		2201	4296	6497	SO:0001583	missense	219482				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56237461C>G	AB065746	CCDS31532.1	11q11	2012-08-09			ENSG00000174937	ENSG00000174937		"""GPCR / Class A : Olfactory receptors"""	14806	protein-coding gene	gene with protein product							Standard	NM_001004742		Approved		uc010rjk.2	Q8NGP4	OTTHUMG00000166875	ENST00000312240.2:c.513G>C	11.37:g.56237461C>G	ENSP00000312208:p.Glu171Asp						p.E171D	NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN			1	553	-	Esophageal squamous(21;0.00448)		171					B2RNM7|Q6IEW4|Q96RC0	Missense_Mutation	SNP	ENST00000312240.2	37	c.513G>C	CCDS31532.1	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262146	0.39995	.	.	ENSG00000174937	ENST00000312240	T	0.00169	8.63	5.22	1.54	0.23209	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000211	T	0.00384	0.0012	M	0.70108	2.13	0.22873	N	0.998628	D	0.59357	0.985	D	0.64595	0.927	T	0.46119	-0.9214	10	0.72032	D	0.01	-14.6236	5.6678	0.17704	0.0:0.4966:0.2372:0.2662	.	171	Q8NGP4	OR5M3_HUMAN	D	171	ENSP00000312208:E171D	ENSP00000312208:E171D	E	-	3	2	OR5M3	55994037	0.000000	0.05858	1.000000	0.80357	0.930000	0.56654	-5.310000	0.00132	0.503000	0.28060	0.549000	0.68633	GAG		0.403	OR5M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391639.1	NM_001004742		36	121	0	0	0	1	0	36	121				
SLC9A6	10479	broad.mit.edu	37	X	135106525	135106525	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:135106525G>A	ENST00000370698.3	+	12	1438	c.1403G>A	c.(1402-1404)cGa>cAa	p.R468Q	SLC9A6_ENST00000370695.4_Missense_Mutation_p.R500Q|SLC9A6_ENST00000370701.1_Missense_Mutation_p.R448Q	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	468					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTGGCCATTCGAGATACTGCC	0.453																																						ENST00000370695.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33						c.(1498-1500)cGa>cAa		solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6							284.0	192.0	223.0					X																	135106525		2203	4300	6503	SO:0001583	missense	10479				regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	g.chrX:135106525G>A	AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.1403G>A	X.37:g.135106525G>A	ENSP00000359732:p.Arg468Gln					SLC9A6_ENST00000370701.1_Missense_Mutation_p.R448Q|SLC9A6_ENST00000370698.3_Missense_Mutation_p.R468Q	p.R500Q	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN			12	1534	+	Acute lymphoblastic leukemia(192;0.000127)		468					A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Missense_Mutation	SNP	ENST00000370698.3	37	c.1499G>A	CCDS14654.1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.519878	0.85495	.	.	ENSG00000198689	ENST00000370701;ENST00000370698;ENST00000370695	T;T;T	0.26223	1.75;1.75;1.75	5.28	5.28	0.74379	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.29355	0.0731	L	0.31476	0.935	0.80722	D	1	P;P	0.52842	0.884;0.956	B;P	0.49451	0.422;0.611	T	0.04565	-1.0942	10	0.72032	D	0.01	.	16.4166	0.83744	0.0:0.0:1.0:0.0	.	500;468	Q92581-2;Q92581	.;SL9A6_HUMAN	Q	448;468;500	ENSP00000359735:R448Q;ENSP00000359732:R468Q;ENSP00000359729:R500Q	ENSP00000359729:R500Q	R	+	2	0	SLC9A6	134934191	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	9.476000	0.97823	2.180000	0.69256	0.600000	0.82982	CGA		0.453	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058450.1	NM_006359		32	26	0	0	0	1	0	32	26				
TRABD2A	129293	broad.mit.edu	37	2	85097547	85097547	+	Silent	SNP	G	G	A	rs552109610		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:85097547G>A	ENST00000409520.2	-	2	513	c.471C>T	c.(469-471)gcC>gcT	p.A157A	TRABD2A_ENST00000335459.5_Silent_p.A157A|TRABD2A_ENST00000409133.1_Silent_p.A157A	NM_001277053.1	NP_001263982.1	Q86V40	TIKI1_HUMAN	TraB domain containing 2A	157					head development (GO:0060322)|metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										CCCAGTTTCCGGCAATAGCAT	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20817	0.0		0.0	False		,,,				2504	0.0					ENST00000335459.5																			0											c.(469-471)gcC>gcT		TraB domain containing 2A							98.0	104.0	102.0					2																	85097547		2147	4269	6416	SO:0001819	synonymous_variant	129293							g.chr2:85097547G>A	BC049209	CCDS46349.1, CCDS62946.1	2p11.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000186854	ENSG00000186854			27013	protein-coding gene	gene with protein product		614912	"""chromosome 2 open reading frame 89"""	C2orf89		12477932	Standard	NM_001080824		Approved		uc010ysl.3	Q86V40	OTTHUMG00000152922	ENST00000409520.2:c.471C>T	2.37:g.85097547G>A						TRABD2A_ENST00000409520.2_Silent_p.A157A|TRABD2A_ENST00000409133.1_Silent_p.A157A	p.A157A	NM_001080824.1	NP_001074293.1					2	676	-								B4DKK8|I6UMB9	Silent	SNP	ENST00000409520.2	37	c.471C>T																																																																																					0.562	TRABD2A-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001080824		21	101	0	0	0	1	0	21	101				
WTAP	9589	broad.mit.edu	37	6	160176183	160176183	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:160176183C>G	ENST00000358372.4	+	8	2488	c.731C>G	c.(730-732)tCt>tGt	p.S244C	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	244					cell cycle (GO:0007049)|mRNA methylation (GO:0080009)|mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	MIS complex (GO:0036396)|nuclear membrane (GO:0031965)|nuclear speck (GO:0016607)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CAGCAGCAGTCTCAGGCCTCT	0.527																																						ENST00000358372.4																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18						c.(730-732)tCt>tGt		Wilms tumor 1 associated protein							57.0	50.0	52.0					6																	160176183		2203	4300	6503	SO:0001583	missense	9589				cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus		g.chr6:160176183C>G	AJ276706	CCDS5266.1, CCDS5267.1, CCDS75542.1	6q25-q27	2008-02-05			ENSG00000146457	ENSG00000146457			16846	protein-coding gene	gene with protein product		605442				7788527, 11001926	Standard	NM_004906		Approved	KIAA0105, MGC3925	uc003qsl.4	Q15007	OTTHUMG00000015933	ENST00000358372.4:c.731C>G	6.37:g.160176183C>G	ENSP00000351141:p.Ser244Cys					SOD2_ENST00000546087.1_Intron	p.S244C	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)	8	2488	+		Breast(66;0.000776)|Ovarian(120;0.0303)	244					Q5TCL8|Q5TCL9|Q96T28|Q9BYJ7|Q9H4E2	Missense_Mutation	SNP	ENST00000358372.4	37	c.731C>G	CCDS5266.1	.	.	.	.	.	.	.	.	.	.	C	17.09	3.300050	0.60195	.	.	ENSG00000146457	ENST00000358372	T	0.47177	0.85	6.17	6.17	0.99709	.	0.516289	0.23795	N	0.044484	T	0.21227	0.0511	N	0.08118	0	0.80722	D	1	P;P	0.43169	0.739;0.8	B;B	0.42555	0.391;0.303	T	0.09796	-1.0658	10	0.54805	T	0.06	4.6069	13.9957	0.64397	0.0:0.9315:0.0:0.0685	.	244;244	A8K489;Q15007	.;FL2D_HUMAN	C	244	ENSP00000351141:S244C	ENSP00000351141:S244C	S	+	2	0	WTAP	160096173	1.000000	0.71417	0.926000	0.36857	0.657000	0.38888	2.752000	0.47516	2.941000	0.99782	0.655000	0.94253	TCT		0.527	WTAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042905.1	NM_152857		14	33	0	0	0	1	0	14	33				
ANK3	288	broad.mit.edu	37	10	61833595	61833595	+	Silent	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:61833595T>C	ENST00000280772.2	-	37	7235	c.7044A>G	c.(7042-7044)agA>agG	p.R2348R	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2348					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTGGTTTCTCTAATAATGA	0.383																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(7042-7044)agA>agG		ankyrin 3, node of Ranvier (ankyrin G)							119.0	119.0	119.0					10																	61833595		2203	4300	6503	SO:0001819	synonymous_variant	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61833595T>C	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.7044A>G	10.37:g.61833595T>C						ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.R2348R	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	7235	-			2348					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Silent	SNP	ENST00000280772.2	37	c.7044A>G	CCDS7258.1																																																																																				0.383	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		38	119	0	0	0	1	0	38	119				
TUBGCP5	114791	broad.mit.edu	37	15	22861781	22861781	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr15:22861781C>A	ENST00000283645.4	+	14	1931	c.1801C>A	c.(1801-1803)Cag>Aag	p.Q601K	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.Q601K	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	601					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GGAATCTGTACAGTCCCGTCT	0.388																																						ENST00000283645.4																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(1801-1803)Cag>Aag		tubulin, gamma complex associated protein 5							84.0	80.0	81.0					15																	22861781		2203	4300	6503	SO:0001583	missense	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22861781C>A	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.1801C>A	15.37:g.22861781C>A	ENSP00000283645:p.Gln601Lys					TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Missense_Mutation_p.Q601K	p.Q601K	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	14	1931	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	601					E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	ENST00000283645.4	37	c.1801C>A	CCDS10008.1	.	.	.	.	.	.	.	.	.	.	C	8.434	0.849313	0.17034	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.24350	1.86;1.86	4.97	4.02	0.46733	.	0.061993	0.64402	N	0.000003	T	0.22898	0.0553	L	0.47716	1.5	0.80722	D	1	P;P;P	0.36086	0.536;0.536;0.536	B;B;B	0.36378	0.223;0.223;0.223	T	0.03000	-1.1084	10	0.13470	T	0.59	-11.3971	14.958	0.71131	0.1438:0.8562:0.0:0.0	.	601;601;601	A8K1E4;Q96RT8;E9PB12	.;GCP5_HUMAN;.	K	601	ENSP00000283645:Q601K;ENSP00000409217:Q601K	ENSP00000283645:Q601K	Q	+	1	0	TUBGCP5	20413222	1.000000	0.71417	0.792000	0.32020	0.908000	0.53690	7.074000	0.76791	1.399000	0.46721	0.561000	0.74099	CAG		0.388	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		102	97	1	0	1.77486e-58	1	1.96756e-58	102	97				
TMEM184B	25829	broad.mit.edu	37	22	38643838	38643838	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:38643838T>C	ENST00000361906.3	-	2	338	c.130A>G	c.(130-132)Act>Gct	p.T44A	TMEM184B_ENST00000361684.4_Missense_Mutation_p.T44A	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	44						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					TGAGCGGCAGTTGTCATCAGG	0.647																																						ENST00000361906.3																			0				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8						c.(130-132)Act>Gct		transmembrane protein 184B							58.0	50.0	53.0					22																	38643838		2203	4300	6503	SO:0001583	missense	25829					integral to membrane		g.chr22:38643838T>C	AL096879	CCDS13969.2	22q12	2008-02-04	2007-07-11	2007-07-11	ENSG00000198792	ENSG00000198792			1310	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 5"""	C22orf5		10591208	Standard	NM_012264		Approved	HS5O6A, DKFZP586A1024, FM08	uc003avf.1	Q9Y519	OTTHUMG00000030557	ENST00000361906.3:c.130A>G	22.37:g.38643838T>C	ENSP00000355210:p.Thr44Ala					TMEM184B_ENST00000361684.4_Missense_Mutation_p.T44A	p.T44A	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN			2	338	-	Melanoma(58;0.045)		44					A8K9D7|Q63HM8|Q7Z421|Q8NBM5|Q9UGT8|Q9UGT9|Q9UGV5	Missense_Mutation	SNP	ENST00000361906.3	37	c.130A>G	CCDS13969.2	.	.	.	.	.	.	.	.	.	.	T	16.24	3.067721	0.55539	.	.	ENSG00000198792	ENST00000361906;ENST00000361684	T;T	0.44083	0.93;0.93	4.66	4.66	0.58398	.	0.049535	0.85682	D	0.000000	T	0.18759	0.0450	N	0.03253	-0.375	0.42940	D	0.994343	B	0.06786	0.001	B	0.09377	0.004	T	0.11179	-1.0598	10	0.06236	T	0.91	.	14.1298	0.65245	0.0:0.0:0.0:1.0	.	44	Q9Y519	T184B_HUMAN	A	44	ENSP00000355210:T44A;ENSP00000354441:T44A	ENSP00000354441:T44A	T	-	1	0	TMEM184B	36973784	0.992000	0.36948	0.617000	0.29091	0.979000	0.70002	2.233000	0.43027	1.745000	0.51790	0.402000	0.26972	ACT		0.647	TMEM184B-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075445.4	NM_012264		3	12	0	0	0	1	0	3	12				
SLC24A5	283652	broad.mit.edu	37	15	48414190	48414190	+	Silent	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr15:48414190C>G	ENST00000341459.3	+	2	331	c.258C>G	c.(256-258)gtC>gtG	p.V86V	SLC24A5_ENST00000482911.2_Silent_p.V86V|SLC24A5_ENST00000449382.2_Intron	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	86					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		TATCTATTGTCTGTGATGAAT	0.443																																						ENST00000482911.2																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27						c.(256-258)gtC>gtG		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							211.0	202.0	205.0					15																	48414190		2198	4297	6495	SO:0001819	synonymous_variant	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48414190C>G	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.258C>G	15.37:g.48414190C>G						SLC24A5_ENST00000341459.3_Silent_p.V86V|SLC24A5_ENST00000449382.2_Intron	p.V86V			Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	2	299	+		all_lung(180;0.00217)	86					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Silent	SNP	ENST00000341459.3	37	c.258C>G	CCDS10128.1																																																																																				0.443	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		41	132	0	0	0	1	0	41	132				
ATXN3	4287	broad.mit.edu	37	14	92563016	92563016	+	Splice_Site	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:92563016A>G	ENST00000532032.1	-	2	199		c.e2+1		ATXN3_ENST00000429774.2_Splice_Site|ATXN3_ENST00000545170.1_Splice_Site|ATXN3_ENST00000393287.5_Splice_Site|ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000554491.1_Splice_Site|ATXN3_ENST00000503767.1_Splice_Site			P54252	ATX3_HUMAN	ataxin 3						actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|cellular response to misfolded protein (GO:0071218)|intermediate filament cytoskeleton organization (GO:0045104)|microtubule cytoskeleton organization (GO:0000226)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|monoubiquitinated protein deubiquitination (GO:0035520)|nervous system development (GO:0007399)|nucleotide-excision repair (GO:0006289)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of cell-substrate adhesion (GO:0010810)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATPase binding (GO:0051117)|identical protein binding (GO:0042802)|Lys48-specific deubiquitinase activity (GO:1990380)|Lys63-specific deubiquitinase activity (GO:0061578)|omega peptidase activity (GO:0008242)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12		all_cancers(154;0.0768)		COAD - Colon adenocarcinoma(157;0.224)		TAAAATCAGTACCTGTAAAAA	0.433																																					Esophageal Squamous(190;752 2094 29897 44875 49530)	ENST00000545170.1																			0				endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	12						c.e2+1		ataxin 3							159.0	122.0	135.0					14																	92563016		2203	4300	6503	SO:0001630	splice_region_variant	4287				cell death|nervous system development|nucleotide-excision repair|regulation of transcription, DNA-dependent|synaptic transmission|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleoplasm	cysteine-type peptidase activity|protein binding	g.chr14:92563016A>G	U64820	CCDS9900.1, CCDS32143.1, CCDS45154.1, CCDS53908.1, CCDS73680.1	14q21	2014-09-17	2004-08-12	2004-08-13	ENSG00000066427	ENSG00000066427		"""Ataxins"""	7106	protein-coding gene	gene with protein product		607047	"""Machado-Joseph disease (spinocerebellar ataxia 3, olivopontocerebellar ataxia 3, autosomal dominant, ataxin 3)"""	SCA3, MJD		8358439	Standard	NM_004993		Approved	ATX3, JOS	uc001yac.4	P54252	OTTHUMG00000162212	ENST00000532032.1:c.189+1T>C	14.37:g.92563016A>G						ATXN3_ENST00000532032.1_Splice_Site|ATXN3_ENST00000393287.5_Splice_Site|ATXN3_ENST00000429774.2_Splice_Site|ATXN3_ENST00000340660.6_Intron|ATXN3_ENST00000502250.1_Intron|ATXN3_ENST00000554491.1_Splice_Site|ATXN3_ENST00000503767.1_Splice_Site		NM_001164774.1|NM_001164776.1|NM_001164777.1|NM_001164778.1|NM_004993.5	NP_001158246.1|NP_001158248.1|NP_001158249.1|NP_001158250.1|NP_004984.2	P54252	ATX3_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	2	258	-		all_cancers(154;0.0768)						A7LFZ5|D6RDL9|E9PB63|O15284|O15285|O15286|Q8N189|Q96TC3|Q96TC4|Q9H3N0	Splice_Site	SNP	ENST00000532032.1	37			.	.	.	.	.	.	.	.	.	.	A	16.17	3.047613	0.55110	.	.	ENSG00000066427	ENST00000545278;ENST00000539555;ENST00000537884;ENST00000545170;ENST00000447800;ENST00000359819;ENST00000393289;ENST00000429774;ENST00000539454;ENST00000393287;ENST00000503767;ENST00000532032;ENST00000554592;ENST00000553491;ENST00000506466	.	.	.	5.71	5.71	0.89125	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1276	0.81406	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ATXN3	91632769	1.000000	0.71417	0.990000	0.47175	0.544000	0.35116	7.202000	0.77856	2.214000	0.71695	0.444000	0.29173	.		0.433	ATXN3-015	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000388065.1	NM_004993	Intron	22	115	0	0	0	1	0	22	115				
C4orf45	152940	broad.mit.edu	37	4	159894346	159894346	+	Nonsense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:159894346G>C	ENST00000434826.2	-	2	266	c.182C>G	c.(181-183)tCa>tGa	p.S61*	C4orf45_ENST00000508011.1_5'UTR	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN	chromosome 4 open reading frame 45	61										large_intestine(2)|lung(3)	5						GCTTCTATTTGAGGCAGGCCT	0.388																																						ENST00000434826.2																			0				large_intestine(2)|lung(3)	5						c.(181-183)tCa>tGa		chromosome 4 open reading frame 45							102.0	86.0	91.0					4																	159894346		1817	4090	5907	SO:0001587	stop_gained	152940							g.chr4:159894346G>C		CCDS47156.1	4q32.1	2012-03-02			ENSG00000164123	ENSG00000164123			26342	protein-coding gene	gene with protein product							Standard	NM_152543		Approved	FLJ25371	uc003iqf.1	Q96LM5	OTTHUMG00000161988	ENST00000434826.2:c.182C>G	4.37:g.159894346G>C	ENSP00000412215:p.Ser61*					C4orf45_ENST00000508011.1_5'UTR	p.S61*	NM_152543.2	NP_689756.2	Q96LM5	CD045_HUMAN			2	266	-			61					A8MPU3|C9J0T8	Nonsense_Mutation	SNP	ENST00000434826.2	37	c.182C>G	CCDS47156.1	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561253	0.65538	.	.	ENSG00000164123	ENST00000434826	.	.	.	5.58	3.82	0.43975	.	0.821909	0.10820	N	0.630616	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.766	7.1346	0.25521	0.0871:0.0:0.7445:0.1684	.	.	.	.	X	61	.	.	S	-	2	0	C4orf45	160113796	0.116000	0.22171	0.059000	0.19551	0.004000	0.04260	1.423000	0.34837	0.675000	0.31264	-0.137000	0.14449	TCA		0.388	C4orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366636.1	NM_152543		19	32	0	0	0	1	0	19	32				
SYNE1	23345	broad.mit.edu	37	6	152757123	152757123	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:152757123C>G	ENST00000367255.5	-	33	4864	c.4263G>C	c.(4261-4263)aaG>aaC	p.K1421N	SYNE1_ENST00000367248.3_Missense_Mutation_p.K1411N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1487N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1421N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1428N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1421N|SYNE1_ENST00000367253.4_Missense_Mutation_p.K1421N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1428N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1421					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTTTGATTGACTTGGCCTGCT	0.413										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(4261-4263)aaG>aaC		spectrin repeat containing, nuclear envelope 1							166.0	147.0	153.0					6																	152757123		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152757123C>G	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.4263G>C	6.37:g.152757123C>G	ENSP00000356224:p.Lys1421Asn	HNSCC(10;0.0054)				SYNE1_ENST00000367253.4_Missense_Mutation_p.K1421N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K1421N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K1428N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K1428N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K1411N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K1487N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K1421N	p.K1421N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	33	4864	-		Ovarian(120;0.0955)	1421					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.4263G>C	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988430	0.35036	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;D;D	0.88431	1.37;1.37;1.37;1.37;0.61;1.37;-2.38;-2.37	6.08	3.36	0.38483	.	0.298859	0.28203	N	0.016208	T	0.74007	0.3660	L	0.60455	1.87	0.24296	N	0.99514	B;B;B;B;B;B	0.13145	0.0;0.0;0.001;0.001;0.0;0.007	B;B;B;B;B;B	0.16289	0.004;0.0;0.004;0.005;0.0;0.015	T	0.62515	-0.6838	10	0.22109	T	0.4	.	9.5615	0.39371	0.0:0.6575:0.0:0.3425	.	1404;1421;1411;1421;1421;1428	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	N	1421;1428;1421;1428;1487;1421;1411;1421	ENSP00000356224:K1421N;ENSP00000396024:K1428N;ENSP00000265368:K1421N;ENSP00000390975:K1428N;ENSP00000341887:K1487N;ENSP00000356222:K1421N;ENSP00000356217:K1411N;ENSP00000414510:K1421N	ENSP00000265368:K1421N	K	-	3	2	SYNE1	152798816	0.919000	0.31177	0.944000	0.38274	0.850000	0.48378	0.055000	0.14229	0.918000	0.36919	0.591000	0.81541	AAG		0.413	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		25	101	0	0	0	1	0	25	101				
ARID4A	5926	broad.mit.edu	37	14	58827630	58827630	+	Silent	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:58827630T>C	ENST00000355431.3	+	19	2323	c.1950T>C	c.(1948-1950)gaT>gaC	p.D650D	ARID4A_ENST00000431317.2_Silent_p.D650D|ARID4A_ENST00000348476.3_Silent_p.D650D|ARID4A_ENST00000395168.3_Silent_p.D650D	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	650					erythrocyte development (GO:0048821)|histone H3-K4 trimethylation (GO:0080182)|histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of gene expression by genetic imprinting (GO:0006349)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATAAAGAAGATAGTGAAAAGG	0.388																																						ENST00000355431.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1948-1950)gaT>gaC		AT rich interactive domain 4A (RBP1-like)							104.0	104.0	104.0					14																	58827630		2203	4300	6503	SO:0001819	synonymous_variant	5926				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr14:58827630T>C	S57153	CCDS9732.1, CCDS9733.1, CCDS45114.1	14q22.3	2013-02-07	2004-01-28	2004-01-28	ENSG00000032219	ENSG00000032219		"""-"""	9885	protein-coding gene	gene with protein product		180201	"""retinoblastoma-binding protein 1"""	RBBP1		1857421, 8455946	Standard	NM_023000		Approved	RBP1, RBP-1	uc001xdp.3	P29374	OTTHUMG00000140320	ENST00000355431.3:c.1950T>C	14.37:g.58827630T>C						ARID4A_ENST00000348476.3_Silent_p.D650D|ARID4A_ENST00000395168.3_Silent_p.D650D|ARID4A_ENST00000431317.2_Silent_p.D650D	p.D650D	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN			19	2323	+			650					Q15991|Q15992|Q15993	Silent	SNP	ENST00000355431.3	37	c.1950T>C	CCDS9732.1																																																																																				0.388	ARID4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276927.2	NM_023001		48	51	0	0	0	1	0	48	51				
EHBP1L1	254102	broad.mit.edu	37	11	65351857	65351857	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:65351857A>G	ENST00000309295.4	+	10	3504	c.3239A>G	c.(3238-3240)tAc>tGc	p.Y1080C		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	1080	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.					membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						CACCGATTCTACCCAGACAAG	0.607																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(3238-3240)tAc>tGc		EH domain binding protein 1-like 1							45.0	51.0	49.0					11																	65351857		2150	4253	6403	SO:0001583	missense	254102							g.chr11:65351857A>G	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.3239A>G	11.37:g.65351857A>G	ENSP00000312671:p.Tyr1080Cys						p.Y1080C	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			10	3504	+			1080			CH.		Q8TB89|Q9H7M7	Missense_Mutation	SNP	ENST00000309295.4	37	c.3239A>G	CCDS44649.1	.	.	.	.	.	.	.	.	.	.	A	15.12	2.739598	0.49045	.	.	ENSG00000173442	ENST00000309295;ENST00000533237	D;D	0.94330	-3.4;-3.4	5.31	4.19	0.49359	Calponin homology domain (5);	0.458067	0.18881	N	0.128580	D	0.90909	0.7143	L	0.46157	1.445	0.80722	D	1	P;P	0.35208	0.49;0.454	B;B	0.40009	0.316;0.192	D	0.88588	0.3141	10	0.62326	D	0.03	.	9.2372	0.37473	0.9134:0.0:0.0866:0.0	.	497;1080	E9PIH6;Q8N3D4	.;EH1L1_HUMAN	C	1080;497	ENSP00000312671:Y1080C;ENSP00000431996:Y497C	ENSP00000312671:Y1080C	Y	+	2	0	EHBP1L1	65108433	0.902000	0.30710	0.955000	0.39395	0.995000	0.86356	3.920000	0.56446	0.879000	0.35944	0.459000	0.35465	TAC		0.607	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		29	46	0	0	0	1	0	29	46				
DGAT1	8694	broad.mit.edu	37	8	145542404	145542404	+	Silent	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:145542404G>C	ENST00000332324.4	-	5	699	c.426C>G	c.(424-426)gtC>gtG	p.V142V	DGAT1_ENST00000527438.1_5'Flank|DGAT1_ENST00000531896.1_Silent_p.V142V	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	142					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CCACAGCAAAGACATTGGCCG	0.627																																						ENST00000332324.4																			0				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9						c.(424-426)gtC>gtG		diacylglycerol O-acyltransferase 1							46.0	47.0	47.0					8																	145542404		2203	4295	6498	SO:0001819	synonymous_variant	8694				triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity	g.chr8:145542404G>C	AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.426C>G	8.37:g.145542404G>C						DGAT1_ENST00000531896.1_Silent_p.V142V	p.V142V	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)		5	699	-	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		142					B2RWQ2|D3DWL6|Q96BB8	Silent	SNP	ENST00000332324.4	37	c.426C>G	CCDS6420.1																																																																																				0.627	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382059.3	NM_012079		4	24	0	0	0	1	0	4	24				
EPS15	2060	broad.mit.edu	37	1	51906049	51906049	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:51906049G>A	ENST00000371733.3	-	12	1106	c.1010C>T	c.(1009-1011)aCt>aTt	p.T337I	EPS15_ENST00000371730.2_Missense_Mutation_p.T337I	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	337					cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						ATTGTTAAGAGTATCTAGTTC	0.348			T	MLL	ALL																																	ENST00000371733.3				Dom	yes		1	1p32	2060	T	epidermal growth factor receptor pathway substrate 15 (AF1p)			L	MLL		ALL		1	Whole gene deletion(1)	p.0?(1)	central_nervous_system(1)	endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						c.(1009-1011)aCt>aTt		epidermal growth factor receptor pathway substrate 15							133.0	126.0	129.0					1																	51906049		2202	4300	6502	SO:0001583	missense	2060				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	g.chr1:51906049G>A	BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.1010C>T	1.37:g.51906049G>A	ENSP00000360798:p.Thr337Ile					EPS15_ENST00000371730.2_Missense_Mutation_p.T337I	p.T337I	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN			12	1106	-			337					B2R8J7|D3DPJ2|Q5SRH4	Missense_Mutation	SNP	ENST00000371733.3	37	c.1010C>T	CCDS557.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.945502	0.73672	.	.	ENSG00000085832	ENST00000371730;ENST00000371733	D;D	0.83335	-1.71;-1.71	5.45	5.45	0.79879	.	.	.	.	.	D	0.85771	0.5774	L	0.43152	1.355	0.80722	D	1	P;D	0.63880	0.808;0.993	B;P	0.57776	0.299;0.827	T	0.81519	-0.0896	9	0.19590	T	0.45	.	19.6547	0.95831	0.0:0.0:1.0:0.0	.	337;337	B1AUU8;P42566	.;EPS15_HUMAN	I	337	ENSP00000360795:T337I;ENSP00000360798:T337I	ENSP00000360795:T337I	T	-	2	0	EPS15	51678637	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.207000	0.77899	2.717000	0.92951	0.650000	0.86243	ACT		0.348	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022422.1	NM_001981		20	84	0	0	0	1	0	20	84				
CELSR2	1952	broad.mit.edu	37	1	109795578	109795578	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:109795578G>T	ENST00000271332.3	+	1	2938	c.2877G>T	c.(2875-2877)caG>caT	p.Q959H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	959	Cadherin 8. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTATGTACCAGATTGTGGAGG	0.567																																					NSCLC(158;1285 2011 34800 34852 42084)	ENST00000271332.3																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82						c.(2875-2877)caG>caT		cadherin, EGF LAG seven-pass G-type receptor 2							135.0	124.0	128.0					1																	109795578		2203	4300	6503	SO:0001583	missense	1952				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	g.chr1:109795578G>T	D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.2877G>T	1.37:g.109795578G>T	ENSP00000271332:p.Gln959His						p.Q959H	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)	1	2938	+		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	959			Cadherin 8.		Q5T2Y7|Q92566	Missense_Mutation	SNP	ENST00000271332.3	37	c.2877G>T	CCDS796.1	.	.	.	.	.	.	.	.	.	.	N	15.76	2.928704	0.52759	.	.	ENSG00000143126	ENST00000271332	T	0.52983	0.64	4.56	4.56	0.56223	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.38772	0.1053	N	0.11818	0.18	0.43246	D	0.995163	D	0.76494	0.999	D	0.91635	0.999	T	0.32719	-0.9896	9	0.34782	T	0.22	.	13.5153	0.61537	0.0782:0.0:0.9218:0.0	.	959	Q9HCU4	CELR2_HUMAN	H	959	ENSP00000271332:Q959H	ENSP00000271332:Q959H	Q	+	3	2	CELSR2	109597101	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.842000	0.55858	2.586000	0.87340	0.644000	0.83932	CAG		0.567	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033200.1	NM_001408		13	181	1	0	4.3838e-07	1	4.52371e-07	13	181				
PHF3	23469	broad.mit.edu	37	6	64421225	64421225	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:64421225A>G	ENST00000262043.3	+	15	4304	c.3964A>G	c.(3964-3966)Att>Gtt	p.I1322V	PHF3_ENST00000393387.1_Missense_Mutation_p.I1322V			Q92576	PHF3_HUMAN	PHD finger protein 3	1322					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CACAGATAAAATTCCACACCC	0.408																																					GBM(135;136 1820 29512 34071 46235)	ENST00000262043.3																			0				breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75						c.(3964-3966)Att>Gtt		PHD finger protein 3							109.0	100.0	103.0					6																	64421225		2203	4300	6503	SO:0001583	missense	23469				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr6:64421225A>G	AF091622	CCDS4966.1	6q12	2013-09-24			ENSG00000118482	ENSG00000118482		"""Zinc fingers, PHD-type"""	8921	protein-coding gene	gene with protein product		607789				11856869	Standard	XM_005248701		Approved		uc003pep.1	Q92576	OTTHUMG00000014952	ENST00000262043.3:c.3964A>G	6.37:g.64421225A>G	ENSP00000262043:p.Ile1322Val					PHF3_ENST00000393387.1_Missense_Mutation_p.I1322V	p.I1322V			Q92576	PHF3_HUMAN	LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)		15	4304	+	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		1322					A3KFI8|Q14CR5|Q5CZI1|Q5T1T6|Q9NQ16|Q9UI45	Missense_Mutation	SNP	ENST00000262043.3	37	c.3964A>G	CCDS4966.1	.	.	.	.	.	.	.	.	.	.	A	9.317	1.056955	0.19907	.	.	ENSG00000118482	ENST00000515594;ENST00000262043;ENST00000393387	T;T;T	0.40476	1.03;2.27;2.27	6.04	6.04	0.98038	.	0.000000	0.39909	N	0.001232	T	0.26919	0.0659	L	0.35723	1.085	0.48830	D	0.999712	P	0.38922	0.651	P	0.46510	0.519	T	0.09015	-1.0694	10	0.23891	T	0.37	-16.1525	11.1357	0.48373	0.9235:0.0:0.0765:0.0	.	1322	Q92576	PHF3_HUMAN	V	591;1322;1322	ENSP00000425338:I591V;ENSP00000262043:I1322V;ENSP00000377048:I1322V	ENSP00000262043:I1322V	I	+	1	0	PHF3	64479184	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.139000	0.64801	2.317000	0.78254	0.523000	0.50628	ATT		0.408	PHF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041086.2			22	66	0	0	0	1	0	22	66				
MAGEC1	9947	broad.mit.edu	37	X	140994657	140994657	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:140994657C>T	ENST00000285879.4	+	4	1753	c.1467C>T	c.(1465-1467)tcC>tcT	p.S489S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	489										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCTCCTCCACTTTATTGA	0.493										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1465-1467)tcC>tcT		melanoma antigen family C, 1							116.0	128.0	124.0					X																	140994657		2203	4300	6503	SO:0001819	synonymous_variant	9947						protein binding	g.chrX:140994657C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1467C>T	X.37:g.140994657C>T		HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.S489S	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1753	+	Acute lymphoblastic leukemia(192;6.56e-05)		489					A0PK03|O75451|Q8TCV4	Silent	SNP	ENST00000285879.4	37	c.1467C>T	CCDS35417.1																																																																																				0.493	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		34	94	0	0	0	1	0	34	94				
PLG	5340	broad.mit.edu	37	6	161127524	161127524	+	Missense_Mutation	SNP	T	T	A	rs1049571		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:161127524T>A	ENST00000308192.9	+	2	198	c.135T>A	c.(133-135)agT>agA	p.S45R	PLG_ENST00000366924.2_Missense_Mutation_p.S45R|PLG_ENST00000462918.1_3'UTR	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	45	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAGCAGGAAGTATAGAAGAAT	0.483																																						ENST00000308192.9																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59						c.(133-135)agT>agA		plasminogen	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)						136.0	136.0	136.0					6																	161127524		2203	4300	6503	SO:0001583	missense	5340				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	g.chr6:161127524T>A	M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957	ENST00000308192.9:c.135T>A	6.37:g.161127524T>A	ENSP00000308938:p.Ser45Arg					PLG_ENST00000366924.2_Missense_Mutation_p.S45R|PLG_ENST00000462918.1_3'UTR	p.S45R	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	2	198	+			45			PAN.		Q15146|Q5TEH4|Q6PA00	Missense_Mutation	SNP	ENST00000308192.9	37	c.135T>A	CCDS5279.1	.	.	.	.	.	.	.	.	.	.	.	15.62	2.887118	0.52014	.	.	ENSG00000122194	ENST00000366924;ENST00000308192;ENST00000418964	T;T;T	0.68624	-0.34;-0.34;-0.34	4.73	-4.52	0.03472	PAN-1 domain (1);Apple-like (2);	0.146929	0.30556	U	0.009370	T	0.54159	0.1841	M	0.81239	2.535	0.09310	N	1	P	0.49307	0.922	P	0.50136	0.632	T	0.61535	-0.7043	10	0.52906	T	0.07	.	8.4266	0.32733	0.0:0.2221:0.1274:0.6505	.	45	P00747	PLMN_HUMAN	R	45	ENSP00000355891:S45R;ENSP00000308938:S45R;ENSP00000389424:S45R	ENSP00000308938:S45R	S	+	3	2	PLG	161047514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.315000	0.08081	-0.643000	0.05473	-0.790000	0.03334	AGT		0.483	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042959.2	NM_000301		49	136	0	0	0	1	0	49	136				
PCDHB3	56132	broad.mit.edu	37	5	140480964	140480964	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:140480964A>G	ENST00000231130.2	+	1	731	c.731A>G	c.(730-732)cAg>cGg	p.Q244R	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	244					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAATTTGCACAGCCGCTCTAT	0.507																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(730-732)cAg>cGg									59.0	65.0	63.0					5																	140480964		2202	4298	6500	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140480964A>G	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.731A>G	5.37:g.140480964A>G	ENSP00000231130:p.Gln244Arg					AC005754.7_ENST00000607216.1_RNA	p.Q244R	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	731	+			244					B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.731A>G	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	A	1.223	-0.626383	0.03610	.	.	ENSG00000113205	ENST00000231130	T	0.61859	0.07	4.93	2.49	0.30216	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.44746	0.1308	L	0.37561	1.115	0.09310	N	0.999998	B	0.09022	0.002	B	0.11329	0.006	T	0.35101	-0.9802	9	0.46703	T	0.11	.	6.8014	0.23754	0.7899:0.0:0.0751:0.135	.	244	Q9Y5E6	PCDB3_HUMAN	R	244	ENSP00000231130:Q244R	ENSP00000231130:Q244R	Q	+	2	0	PCDHB3	140461148	0.005000	0.15991	0.030000	0.17652	0.068000	0.16541	1.979000	0.40608	0.307000	0.22880	-0.301000	0.09380	CAG		0.507	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		29	87	0	0	0	1	0	29	87				
ADAM7	8756	broad.mit.edu	37	8	24324554	24324554	+	Intron	SNP	G	G	C	rs541450223	byFrequency	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:24324554G>C	ENST00000175238.6	+	6	662				RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Nonstop_Mutation_p.*211S|ADAM7_ENST00000380789.1_Intron	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TTATTTTCTTGATGATGTCTA	0.313																																						ENST00000441335.2																			0				NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64						c.(631-633)tGa>tCa		ADAM metallopeptidase domain 7																																				SO:0001627	intron_variant	8756				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24324554G>C	AF090327	CCDS6045.1	8p21.2	2005-08-18	2005-08-18		ENSG00000069206	ENSG00000069206		"""ADAM metallopeptidase domain containing"""	214	protein-coding gene	gene with protein product		607310	"""a disintegrin and metalloproteinase domain 7"""				Standard	NM_003817		Approved	GP-83, EAPI	uc003xeb.3	Q9H2U9	OTTHUMG00000097859	ENST00000175238.6:c.579+53G>C	8.37:g.24324554G>C						RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000175238.6_Intron|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Intron	p.*211S			Q9H2U9	ADAM7_HUMAN		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)	6	811	+		Prostate(55;0.0181)	0			Peptidase M12B.		A8K8X7|O75959|Q6PEJ6	Nonstop_Mutation	SNP	ENST00000175238.6	37	c.632G>C	CCDS6045.1	.	.	.	.	.	.	.	.	.	.	G	5.278	0.236767	0.10023	.	.	ENSG00000069206	ENST00000441335	.	.	.	4.51	2.2	0.27929	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.044	0.14473	0.1646:0.0:0.2228:0.6126	.	.	.	.	S	211	.	.	X	+	2	2	ADAM7	24380444	0.008000	0.16893	0.001000	0.08648	0.098000	0.18820	1.067000	0.30616	0.509000	0.28195	0.563000	0.77884	TGA		0.313	ADAM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215150.1	NM_003817		13	25	0	0	0	1	0	13	25				
OR56A3	390083	broad.mit.edu	37	11	5968905	5968905	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:5968905G>T	ENST00000329564.6	+	1	336	c.329G>T	c.(328-330)tGt>tTt	p.C110F	AC025016.1_ENST00000528915.1_lincRNA	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATGAATTGTTTCCTAGCC	0.498																																						ENST00000329564.6																			0				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(328-330)tGt>tTt		olfactory receptor, family 56, subfamily A, member 3							167.0	158.0	161.0					11																	5968905		2201	4296	6497	SO:0001583	missense	390083				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5968905G>T		CCDS41614.1	11p15.4	2012-08-09		2004-03-10	ENSG00000184478	ENSG00000184478		"""GPCR / Class A : Olfactory receptors"""	14786	protein-coding gene	gene with protein product				OR56A6, OR56A3P			Standard	NM_001003443		Approved		uc010qzt.2	Q8NH54	OTTHUMG00000165373	ENST00000329564.6:c.329G>T	11.37:g.5968905G>T	ENSP00000331572:p.Cys110Phe						p.C110F	NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	336	+		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	110					A6NN77|Q6IFF7	Missense_Mutation	SNP	ENST00000329564.6	37	c.329G>T	CCDS41614.1	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.664383	0.00765	.	.	ENSG00000184478	ENST00000329564	T	0.00864	5.6	5.13	4.22	0.49857	GPCR, rhodopsin-like superfamily (1);	0.558641	0.13013	U	0.420694	T	0.00608	0.0020	N	0.05592	-0.015	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.42120	-0.9470	10	0.06625	T	0.88	-0.261	8.3015	0.32017	0.0:0.1511:0.5366:0.3122	.	110	Q8NH54	O56A3_HUMAN	F	110	ENSP00000331572:C110F	ENSP00000331572:C110F	C	+	2	0	OR56A3	5925481	0.000000	0.05858	0.342000	0.25602	0.011000	0.07611	-0.188000	0.09642	1.397000	0.46682	0.650000	0.86243	TGT		0.498	OR56A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383753.1	NM_001003443		56	160	1	0	3.28156e-27	1	3.59673e-27	56	160				
ZNF516	9658	broad.mit.edu	37	18	74154328	74154328	+	Missense_Mutation	SNP	C	C	T	rs374622201		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr18:74154328C>T	ENST00000443185.2	-	3	1000	c.683G>A	c.(682-684)gGg>gAg	p.G228E	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	228					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCTGCCGGGCCCCTGCGCGGT	0.697																																						ENST00000443185.2																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						c.(682-684)gGg>gAg		zinc finger protein 516		C	GLU/GLY	2,4230		0,2,2114	15.0	18.0	17.0		683	-3.8	1.0	18		17	0,8462		0,0,4231	no	missense	ZNF516	NM_014643.3	98	0,2,6345	TT,TC,CC		0.0,0.0473,0.0158	possibly-damaging	228/1164	74154328	2,12692	2116	4231	6347	SO:0001583	missense	9658				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr18:74154328C>T	D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.683G>A	18.37:g.74154328C>T	ENSP00000394757:p.Gly228Glu					ZNF516_ENST00000524431.2_5'UTR	p.G228E	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)	3	1000	-		Prostate(75;0.0869)|Esophageal squamous(42;0.129)	228						Missense_Mutation	SNP	ENST00000443185.2	37	c.683G>A		.	.	.	.	.	.	.	.	.	.	C	0.056	-1.237263	0.01493	4.73E-4	0.0	ENSG00000101493	ENST00000443185	T	0.09350	2.99	4.07	-3.77	0.04346	.	0.808617	0.11020	N	0.608495	T	0.09113	0.0225	.	.	.	0.23132	N	0.998249	B	0.31730	0.337	B	0.34722	0.188	T	0.17228	-1.0376	9	0.26408	T	0.33	-1.4543	16.0768	0.80974	0.3417:0.6583:0.0:0.0	.	228	Q92618	ZN516_HUMAN	E	228	ENSP00000394757:G228E	ENSP00000394757:G228E	G	-	2	0	ZNF516	72283316	0.000000	0.05858	0.981000	0.43875	0.451000	0.32288	-0.062000	0.11674	-0.794000	0.04468	-0.457000	0.05445	GGG		0.697	ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643		5	11	0	0	0	1	0	5	11				
TTC9B	148014	broad.mit.edu	37	19	40723998	40723998	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:40723998C>T	ENST00000311308.6	-	1	308	c.291G>A	c.(289-291)gcG>gcA	p.A97A		NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN	tetratricopeptide repeat domain 9B	97					chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						ccccctgcgccgccTTCAGCT	0.756																																						ENST00000311308.6																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)	5						c.(289-291)gcG>gcA		tetratricopeptide repeat domain 9B							17.0	17.0	17.0					19																	40723998		2190	4289	6479	SO:0001819	synonymous_variant	148014						binding	g.chr19:40723998C>T	BC029539	CCDS12550.1	19q13.2	2013-01-11				ENSG00000174521		"""Tetratricopeptide (TTC) repeat domain containing"""	26395	protein-coding gene	gene with protein product							Standard	NM_152479		Approved	FLJ30373	uc002onc.3	Q8N6N2		ENST00000311308.6:c.291G>A	19.37:g.40723998C>T							p.A97A	NM_152479.5	NP_689692.2	Q8N6N2	TTC9B_HUMAN			1	308	-			97					A8K0I5|Q96NP9	Silent	SNP	ENST00000311308.6	37	c.291G>A	CCDS12550.1																																																																																				0.756	TTC9B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462604.1	NM_152479		10	26	0	0	0	1	0	10	26				
PRSS3P2	154754	broad.mit.edu	37	7	142481251	142481251	+	RNA	SNP	A	A	C	rs200856228		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:142481251A>C	ENST00000603901.1	+	0	325					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										CAATGACATCATGCTGATCAA	0.522																																						ENST00000603901.1																			0																				201.0	140.0	159.0					7																	142481251		684	1494	2178			154754							g.chr7:142481251A>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481251A>C								NR_001296.3						0	325	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.522	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		3	39	0	0	0	1	0	3	39				
PC	5091	broad.mit.edu	37	11	66617203	66617203	+	Nonsense_Mutation	SNP	G	G	C	rs199771464		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:66617203G>C	ENST00000393958.2	-	20	3119	c.3026C>G	c.(3025-3027)tCa>tGa	p.S1009*	PC_ENST00000529047.1_Nonsense_Mutation_p.S129*|PC_ENST00000393960.1_Nonsense_Mutation_p.S1009*|PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Nonsense_Mutation_p.S1009*	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	1009					biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	CATAGCTGCTGAGAGCACATC	0.622																																						ENST00000393960.1																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(3025-3027)tCa>tGa		pyruvate carboxylase	Biotin(DB00121)|Pyruvic acid(DB00119)						116.0	91.0	99.0					11																	66617203		2200	4295	6495	SO:0001587	stop_gained	5091				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity	g.chr11:66617203G>C	U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.3026C>G	11.37:g.66617203G>C	ENSP00000377530:p.Ser1009*					PC_ENST00000528224.1_5'UTR|PC_ENST00000393955.2_Nonsense_Mutation_p.S1009*|PC_ENST00000393958.2_Nonsense_Mutation_p.S1009*|PC_ENST00000529047.1_Nonsense_Mutation_p.S129*	p.S1009*	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	21	3307	-		Melanoma(852;0.0525)	1009					B4DN00|Q16705	Nonsense_Mutation	SNP	ENST00000393958.2	37	c.3026C>G	CCDS8152.1	.	.	.	.	.	.	.	.	.	.	G	41	9.002804	0.99033	.	.	ENSG00000173599	ENST00000529047;ENST00000393955;ENST00000393958;ENST00000393960	.	.	.	4.89	4.89	0.63831	.	0.144148	0.48767	D	0.000177	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.1236	15.5897	0.76517	0.0:0.0:1.0:0.0	.	.	.	.	X	129;1009;1009;1009	.	ENSP00000377527:S1009X	S	-	2	0	PC	66373779	1.000000	0.71417	0.952000	0.39060	0.765000	0.43378	6.005000	0.70716	2.538000	0.85594	0.462000	0.41574	TCA		0.622	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393115.1	NM_001040716		4	62	0	0	0	1	0	4	62				
SLC1A7	6512	broad.mit.edu	37	1	53569074	53569074	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:53569074G>A	ENST00000371494.4	-	5	768	c.641C>T	c.(640-642)cCg>cTg	p.P214L		NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	214					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		GCTGGTGCCCGGCTCTGACTT	0.637																																					NSCLC(128;80 1811 21245 38490 51715)	ENST00000371494.4																			0				NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.(640-642)cCg>cTg		solute carrier family 1 (glutamate transporter), member 7	L-Glutamic Acid(DB00142)						36.0	38.0	37.0					1																	53569074		2203	4300	6503	SO:0001583	missense	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53569074G>A	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.641C>T	1.37:g.53569074G>A	ENSP00000360549:p.Pro214Leu						p.P214L	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	5	768	-			214					Q5VVZ0|Q969Z8|Q9BW45	Missense_Mutation	SNP	ENST00000371494.4	37	c.641C>T	CCDS574.1	.	.	.	.	.	.	.	.	.	.	G	10.17	1.277606	0.23307	.	.	ENSG00000162383	ENST00000371494	T	0.51817	0.69	4.82	4.82	0.62117	.	0.108684	0.64402	D	0.000004	T	0.44265	0.1285	L	0.55103	1.725	0.80722	D	1	B	0.32425	0.371	B	0.33521	0.165	T	0.36359	-0.9751	10	0.09843	T	0.71	-10.7745	18.2687	0.90060	0.0:0.0:1.0:0.0	.	214	O00341	EAA5_HUMAN	L	214	ENSP00000360549:P214L	ENSP00000360549:P214L	P	-	2	0	SLC1A7	53341662	1.000000	0.71417	1.000000	0.80357	0.020000	0.10135	4.984000	0.63838	2.346000	0.79739	0.563000	0.77884	CCG		0.637	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671		3	7	0	0	0	1	0	3	7				
ZNF629	23361	broad.mit.edu	37	16	30794512	30794512	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:30794512G>A	ENST00000262525.4	-	3	1344	c.1137C>T	c.(1135-1137)tgC>tgT	p.C379C		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			AGGTCTTGCCGCACACTGGGC	0.657																																						ENST00000262525.4																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22						c.(1135-1137)tgC>tgT		zinc finger protein 629							35.0	36.0	35.0					16																	30794512		2197	4300	6497	SO:0001819	synonymous_variant	23361				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30794512G>A	AB002324	CCDS45463.1	16p11.2	2013-01-08				ENSG00000102870		"""Zinc fingers, C2H2-type"""	29008	protein-coding gene	gene with protein product			"""zinc finger protein 65"""	ZNF65		9205841	Standard	NM_001080417		Approved	KIAA0326	uc002dzs.1	Q9UEG4		ENST00000262525.4:c.1137C>T	16.37:g.30794512G>A							p.C379C	NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	Colorectal(24;0.198)		3	1344	-			379					Q15938	Silent	SNP	ENST00000262525.4	37	c.1137C>T	CCDS45463.1																																																																																				0.657	ZNF629-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434291.1	NM_015309		19	37	0	0	0	1	0	19	37				
PCDHA8	56140	broad.mit.edu	37	5	140222296	140222296	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:140222296G>A	ENST00000531613.1	+	1	1390	c.1390G>A	c.(1390-1392)Gtg>Atg	p.V464M	PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V464M|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	464	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.V464M(4)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGTGTTCGTGAAGGAGAA	0.662																																						ENST00000531613.1																			4	Substitution - Missense(4)	p.V464M(4)	large_intestine(2)|prostate(2)	NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78						c.(1390-1392)Gtg>Atg									48.0	51.0	50.0					5																	140222296		2194	4267	6461	SO:0001583	missense	56140							g.chr5:140222296G>A	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.1390G>A	5.37:g.140222296G>A	ENSP00000434655:p.Val464Met					PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.V464M|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron	p.V464M	NM_018911.2	NP_061734.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1390	+								B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.1390G>A	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	G	15.51	2.856218	0.51376	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.58358	0.34;0.34	3.72	2.82	0.32997	Cadherin (4);Cadherin-like (1);	0.239019	0.20818	N	0.085118	T	0.70780	0.3263	M	0.86651	2.83	0.23120	N	0.998262	D;D	0.89917	1.0;0.997	D;D	0.69824	0.964;0.966	T	0.61008	-0.7149	10	0.87932	D	0	.	7.2717	0.26260	0.0933:0.1726:0.734:0.0	.	464;464	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	M	464	ENSP00000434655:V464M;ENSP00000367363:V464M	ENSP00000367363:V464M	V	+	1	0	PCDHA8	140202480	0.052000	0.20516	0.996000	0.52242	0.623000	0.37688	0.334000	0.19787	0.650000	0.30769	0.306000	0.20318	GTG		0.662	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		28	89	0	0	0	1	0	28	89				
KIF15	56992	broad.mit.edu	37	3	44844448	44844448	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:44844448T>G	ENST00000326047.4	+	14	1801	c.1652T>G	c.(1651-1653)tTc>tGc	p.F551C	KIF15_ENST00000425755.1_Missense_Mutation_p.F186C	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	551					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|plus-end kinesin complex (GO:0005873)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GAAAAAGCTTTCTCTGAAATA	0.388																																						ENST00000326047.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36						c.(1651-1653)tTc>tGc		kinesin family member 15							74.0	73.0	74.0					3																	44844448		2203	4300	6503	SO:0001583	missense	56992				blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity	g.chr3:44844448T>G	AB035898	CCDS33744.1	3p21.31	2008-03-03	2005-03-15	2005-03-17	ENSG00000163808	ENSG00000163808		"""Kinesins"""	17273	protein-coding gene	gene with protein product			"""kinesin-like 7"""	KNSL7		10878014	Standard	NM_020242		Approved	HKLP2, NY-BR-62	uc003cnx.4	Q9NS87	OTTHUMG00000156307	ENST00000326047.4:c.1652T>G	3.37:g.44844448T>G	ENSP00000324020:p.Phe551Cys					KIF15_ENST00000425755.1_Missense_Mutation_p.F186C	p.F551C	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)	14	1801	+			551					Q17RV9|Q69YL6|Q96JX7|Q9H280	Missense_Mutation	SNP	ENST00000326047.4	37	c.1652T>G	CCDS33744.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146884	0.77888	.	.	ENSG00000163808	ENST00000326047;ENST00000481166;ENST00000396031;ENST00000425755	T;T;T	0.80214	-0.48;-1.35;1.64	5.74	5.74	0.90152	Kinesin-like, KLP2 (1);	0.000000	0.53938	D	0.000050	D	0.88459	0.6442	M	0.66939	2.045	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88120	0.2831	10	0.44086	T	0.13	.	16.0354	0.80625	0.0:0.0:0.0:1.0	.	186;551	C9JKA9;Q9NS87	.;KIF15_HUMAN	C	551;323;550;186	ENSP00000324020:F551C;ENSP00000425499:F323C;ENSP00000389982:F186C	ENSP00000324020:F551C	F	+	2	0	KIF15	44819452	1.000000	0.71417	0.521000	0.27850	0.851000	0.48451	7.486000	0.81215	2.190000	0.69967	0.459000	0.35465	TTC		0.388	KIF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343831.2			30	41	0	0	0	1	0	30	41				
FOLH1	2346	broad.mit.edu	37	11	49207259	49207259	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:49207259C>A	ENST00000256999.2	-	6	1048	c.788G>T	c.(787-789)gGt>gTt	p.G263V	FOLH1_ENST00000356696.3_Missense_Mutation_p.G263V|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.G248V|FOLH1_ENST00000340334.7_Missense_Mutation_p.G248V	NM_004476.1	NP_004467.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	263					folic acid-containing compound metabolic process (GO:0006760)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carboxypeptidase activity (GO:0004180)|dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)	GTCTCCTGCACCATTCAGATT	0.443																																						ENST00000340334.7																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60						c.(742-744)gGt>gTt		folate hydrolase (prostate-specific membrane antigen) 1	Capromab(DB00089)|L-Glutamic Acid(DB00142)						53.0	55.0	55.0					11																	49207259		2201	4296	6497	SO:0001583	missense	2346				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:49207259C>A	M99487	CCDS7946.1, CCDS31493.1, CCDS53626.1, CCDS53627.1, CCDS53628.1	11p11.2	2011-07-22			ENSG00000086205	ENSG00000086205	3.4.17.21		3788	protein-coding gene	gene with protein product	"""glutamate carboxylase II"", ""glutamate carboxypeptidase II"""	600934		FOLH		9838072	Standard	NM_001193472		Approved	PSM, PSMA, NAALAD1, NAALAdase, GCP2, GCPII	uc001ngy.3	Q04609	OTTHUMG00000166625	ENST00000256999.2:c.788G>T	11.37:g.49207259C>A	ENSP00000256999:p.Gly263Val					FOLH1_ENST00000256999.2_Missense_Mutation_p.G263V|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000533034.1_Missense_Mutation_p.G248V|FOLH1_ENST00000356696.3_Missense_Mutation_p.G263V	p.G248V	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN			7	1111	-			263					A4UU12|A9CB79|B7Z312|B7Z343|D3DQS5|E9PDX8|O43748|Q16305|Q541A4|Q8TAY3|Q9NP15|Q9NYE2|Q9P1P8	Missense_Mutation	SNP	ENST00000256999.2	37	c.743G>T	CCDS7946.1	.	.	.	.	.	.	.	.	.	.	C	18.63	3.664428	0.67700	.	.	ENSG00000086205	ENST00000256999;ENST00000356696;ENST00000340334;ENST00000533034;ENST00000389724	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	3.01	3.01	0.34805	.	0.000000	0.52532	D	0.000077	T	0.61924	0.2386	M	0.80183	2.485	0.80722	D	1	D;D;P;D	0.89917	1.0;1.0;0.729;0.997	D;D;P;D	0.91635	0.996;0.999;0.493;0.987	T	0.62497	-0.6842	10	0.30078	T	0.28	.	11.8829	0.52586	0.0:1.0:0.0:0.0	.	248;248;263;263	Q04609-9;Q04609-7;Q04609-8;Q04609	.;.;.;FOLH1_HUMAN	V	263;263;248;248;263	ENSP00000256999:G263V;ENSP00000349129:G263V;ENSP00000344131:G248V;ENSP00000431463:G248V	ENSP00000256999:G263V	G	-	2	0	FOLH1	49163835	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.902000	0.75699	1.723000	0.51488	0.400000	0.26472	GGT		0.443	FOLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390896.1	NM_004476		16	39	1	0	1.67942e-08	1	1.74228e-08	16	39				
VPS13B	157680	broad.mit.edu	37	8	100182343	100182343	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:100182343C>G	ENST00000358544.2	+	16	2396	c.2285C>G	c.(2284-2286)tCt>tGt	p.S762C	VPS13B_ENST00000357162.2_Missense_Mutation_p.S762C|VPS13B_ENST00000355155.1_Missense_Mutation_p.S762C|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000395996.1_Missense_Mutation_p.S762C	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	762					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTATTCCCTCTTTCAGCACT	0.378																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(2284-2286)tCt>tGt		vacuolar protein sorting 13 homolog B (yeast)							155.0	134.0	141.0					8																	100182343		2203	4299	6502	SO:0001583	missense	157680				protein transport			g.chr8:100182343C>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.2285C>G	8.37:g.100182343C>G	ENSP00000351346:p.Ser762Cys					VPS13B_ENST00000355155.1_Missense_Mutation_p.S762C|VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000358544.2_Missense_Mutation_p.S762C|VPS13B_ENST00000357162.2_Missense_Mutation_p.S762C	p.S762C			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		16	2396	+	Breast(36;3.73e-07)		762					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.2285C>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.296805	0.81025	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.78707	-1.2;-0.49;-0.49;-0.19	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000002	T	0.79997	0.4543	L	0.32530	0.975	0.52099	D	0.999944	P;P;P;P;P	0.52842	0.956;0.911;0.927;0.911;0.911	P;P;P;P;P	0.54026	0.74;0.694;0.554;0.694;0.694	T	0.81369	-0.0964	10	0.62326	D	0.03	.	19.6887	0.95989	0.0:1.0:0.0:0.0	.	762;762;762;762;762	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	C	762	ENSP00000347281:S762C;ENSP00000349685:S762C;ENSP00000351346:S762C;ENSP00000379318:S762C	ENSP00000347281:S762C	S	+	2	0	VPS13B	100251519	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	6.269000	0.72558	2.722000	0.93159	0.557000	0.71058	TCT		0.378	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		51	100	0	0	0	1	0	51	100				
TTBK1	84630	broad.mit.edu	37	6	43230606	43230606	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:43230606G>A	ENST00000259750.4	+	13	1587	c.1504G>A	c.(1504-1506)Ggc>Agc	p.G502S	TTBK1_ENST00000304139.5_Missense_Mutation_p.G451S	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	502					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGTGGACACAGGCCACGCTGA	0.677																																						ENST00000259750.4																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53						c.(1504-1506)Ggc>Agc		tau tubulin kinase 1							31.0	27.0	29.0					6																	43230606		2203	4298	6501	SO:0001583	missense	84630					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:43230606G>A	AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1504G>A	6.37:g.43230606G>A	ENSP00000259750:p.Gly502Ser					TTBK1_ENST00000304139.5_Missense_Mutation_p.G451S	p.G502S	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)		13	1587	+			502					A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Missense_Mutation	SNP	ENST00000259750.4	37	c.1504G>A	CCDS34455.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.265219	0.80358	.	.	ENSG00000146216	ENST00000393984;ENST00000259750;ENST00000304139	T	0.54071	0.59	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	T	0.47303	0.1438	N	0.22421	0.69	0.51482	D	0.999925	D;P	0.89917	1.0;0.518	D;B	0.91635	0.999;0.197	T	0.37663	-0.9696	10	0.18276	T	0.48	.	15.9195	0.79552	0.0:0.0:1.0:0.0	.	25;502	Q9H6N8;Q5TCY1	.;TTBK1_HUMAN	S	451;502;451	ENSP00000259750:G502S	ENSP00000259750:G502S	G	+	1	0	TTBK1	43338584	1.000000	0.71417	0.980000	0.43619	0.976000	0.68499	9.479000	0.97929	2.502000	0.84385	0.436000	0.28706	GGC		0.677	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040584.3			7	16	0	0	0	1	0	7	16				
FLG	2312	broad.mit.edu	37	1	152275382	152275382	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:152275382A>T	ENST00000368799.1	-	3	12015	c.11980T>A	c.(11980-11982)Tct>Act	p.S3994T	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3994					establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGCTGAGAGTGTCTAAAC	0.413									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(11980-11982)Tct>Act		filaggrin							142.0	126.0	132.0					1																	152275382		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152275382A>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.11980T>A	1.37:g.152275382A>T	ENSP00000357789:p.Ser3994Thr					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.S3994T	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	12015	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		3994					Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.11980T>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	A	8.123	0.781357	0.16120	.	.	ENSG00000143631	ENST00000368799	T	0.01106	5.33	4.05	4.05	0.47172	.	.	.	.	.	T	0.01353	0.0044	L	0.36672	1.1	0.09310	N	1	D	0.76494	0.999	D	0.75484	0.986	T	0.57476	-0.7805	9	0.34782	T	0.22	.	9.5759	0.39457	1.0:0.0:0.0:0.0	.	3994	P20930	FILA_HUMAN	T	3994	ENSP00000357789:S3994T	ENSP00000357789:S3994T	S	-	1	0	FLG	150542006	0.032000	0.19561	0.028000	0.17463	0.006000	0.05464	3.454000	0.52986	1.803000	0.52742	0.528000	0.53228	TCT		0.413	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		4	180	0	0	0	1	0	4	180				
STXBP5L	9515	broad.mit.edu	37	3	120976119	120976119	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:120976119T>A	ENST00000273666.6	+	17	2042	c.1771T>A	c.(1771-1773)Tct>Act	p.S591T	STXBP5L_ENST00000471454.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000492541.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S591T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	591					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAGGAGTCTTTCTGGGAGCAC	0.403																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1771-1773)Tct>Act		syntaxin binding protein 5-like							110.0	106.0	108.0					3																	120976119		1852	4085	5937	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120976119T>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1771T>A	3.37:g.120976119T>A	ENSP00000273666:p.Ser591Thr					STXBP5L_ENST00000492541.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000472879.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000471454.1_Missense_Mutation_p.S591T|STXBP5L_ENST00000497029.1_Missense_Mutation_p.S591T	p.S591T	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	17	2042	+			591					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1771T>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	T	10.16	1.272873	0.23221	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.36878	1.91;1.9;1.7;1.23;1.71;1.91	5.49	5.49	0.81192	WD40 repeat-like-containing domain (1);	0.287232	0.35235	N	0.003343	T	0.31888	0.0811	L	0.51422	1.61	0.54753	D	0.999985	P;P	0.37864	0.61;0.61	B;B	0.35182	0.197;0.197	T	0.08432	-1.0722	10	0.12430	T	0.62	-1.8467	15.8796	0.79193	0.0:0.0:0.0:1.0	.	591;591	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	T	591	ENSP00000273666:S591T;ENSP00000420019:S591T;ENSP00000419627:S591T;ENSP00000420287:S591T;ENSP00000420666:S591T;ENSP00000420167:S591T	ENSP00000273666:S591T	S	+	1	0	STXBP5L	122458809	1.000000	0.71417	0.996000	0.52242	0.969000	0.65631	5.424000	0.66464	2.205000	0.71048	0.477000	0.44152	TCT		0.403	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			28	184	0	0	0	1	0	28	184				
OR2T2	401992	broad.mit.edu	37	1	248616203	248616203	+	Silent	SNP	C	C	A	rs528774471		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:248616203C>A	ENST00000342927.3	+	1	127	c.105C>A	c.(103-105)atC>atA	p.I35I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.I35M(1)|p.I35I(1)		cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTTCTCCATCTTTGTGGTGG	0.532													C|||	1	0.000199681	0.0008	0.0	5008	,	,		33183	0.0		0.0	False		,,,				2504	0.0					ENST00000342927.3																			2	Substitution - Missense(1)|Substitution - coding silent(1)	p.I35M(1)|p.I35I(1)	lung(2)	cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37						c.(103-105)atC>atA		olfactory receptor, family 2, subfamily T, member 2							200.0	219.0	213.0					1																	248616203		2203	4300	6503	SO:0001819	synonymous_variant	401992				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248616203C>A	BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.105C>A	1.37:g.248616203C>A							p.I35I	NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	127	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		35					B2RNM1|B9EH01	Silent	SNP	ENST00000342927.3	37	c.105C>A	CCDS31116.1																																																																																				0.532	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097421.1	NM_001004136		26	197	1	0	3.01185e-09	1	3.15837e-09	26	197				
MYBPC2	4606	broad.mit.edu	37	19	50967652	50967652	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:50967652A>G	ENST00000357701.5	+	27	3329	c.3278A>G	c.(3277-3279)aAg>aGg	p.K1093R		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1093	Ig-like C2-type 7.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAAGATCCCAAGTTCCTGATA	0.557																																						ENST00000357701.5																			0				breast(1)	1						c.(3277-3279)aAg>aGg		myosin binding protein C, fast type							59.0	63.0	62.0					19																	50967652		2117	4240	6357	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50967652A>G		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.3278A>G	19.37:g.50967652A>G	ENSP00000350332:p.Lys1093Arg						p.K1093R	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	27	3329	+		all_neural(266;0.057)	1093			Ig-like C2-type 7.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.3278A>G	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	a	6.282	0.420180	0.11928	.	.	ENSG00000086967	ENST00000357701	T	0.64260	-0.09	3.99	1.86	0.25419	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36374	U	0.002624	T	0.45458	0.1343	N	0.11724	0.165	0.29580	N	0.849266	P	0.40376	0.715	P	0.49140	0.601	T	0.47686	-0.9098	10	0.06099	T	0.92	.	9.4096	0.38482	0.8868:0.0:0.1132:0.0	.	1093	Q14324	MYPC2_HUMAN	R	1093	ENSP00000350332:K1093R	ENSP00000350332:K1093R	K	+	2	0	MYBPC2	55659464	1.000000	0.71417	0.998000	0.56505	0.509000	0.34042	2.463000	0.45058	0.194000	0.20326	0.375000	0.23000	AAG		0.557	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		9	28	0	0	0	1	0	9	28				
SPHKAP	80309	broad.mit.edu	37	2	228886587	228886587	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:228886587C>T	ENST00000392056.3	-	6	583	c.537G>A	c.(535-537)ctG>ctA	p.L179L	SPHKAP_ENST00000344657.5_Silent_p.L179L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	179						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CCAGACCAATCAGAAATTTGT	0.458																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(535-537)ctG>ctA		SPHK1 interactor, AKAP domain containing							144.0	132.0	136.0					2																	228886587		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228886587C>T		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.537G>A	2.37:g.228886587C>T						SPHKAP_ENST00000344657.5_Silent_p.L179L	p.L179L	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	6	583	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	179					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.537G>A	CCDS46537.1																																																																																				0.458	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		68	53	0	0	0	1	0	68	53				
ARFGAP2	84364	broad.mit.edu	37	11	47185796	47185796	+	IGR	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:47185796G>A	ENST00000524782.1	-	0	2976				C11orf49_ENST00000378618.2_Missense_Mutation_p.R325K|ARFGAP2_ENST00000395449.3_5'Flank	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2						protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGGAGCCCAGAGAGTGAGGC	0.622																																						ENST00000378618.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						c.(973-975)aGa>aAa		chromosome 11 open reading frame 49							26.0	29.0	28.0					11																	47185796		2197	4296	6493	SO:0001628	intergenic_variant	79096							g.chr11:47185796G>A	AK027482	CCDS7926.1, CCDS73283.1	11p11.2-p11.12	2012-10-05	2008-01-09	2008-01-09	ENSG00000149182	ENSG00000149182		"""ADP-ribosylation factor GTPase activating proteins"""	13504	protein-coding gene	gene with protein product		606908	"""zinc finger protein 289, ID1 regulated"""	ZNF289		11278321, 14690497	Standard	NM_032389		Approved	IRZ, Zfp289, FLJ14576	uc001ndt.3	Q8N6H7	OTTHUMG00000166773		11.37:g.47185796G>A							p.R325K	NM_001003678.1	NP_001003678.1	Q9H6J7	CK049_HUMAN			9	1026	+			0					B4DX29|B7Z9M7|D3DQQ9|Q3LIF2|Q8N3I1|Q96SX7	Missense_Mutation	SNP	ENST00000524782.1	37	c.974G>A	CCDS7926.1	.	.	.	.	.	.	.	.	.	.	G	8.264	0.811735	0.16537	.	.	ENSG00000149179	ENST00000378618	.	.	.	4.85	2.91	0.33838	.	.	.	.	.	T	0.28466	0.0704	N	0.08118	0	0.80722	D	1	B	0.13145	0.007	B	0.14023	0.01	T	0.03875	-1.0996	8	0.22706	T	0.39	.	8.2234	0.31554	0.0:0.1722:0.6492:0.1785	.	325	E9PAX7	.	K	325	.	ENSP00000367881:R325K	R	+	2	0	C11orf49	47142372	0.995000	0.38212	0.948000	0.38648	0.059000	0.15707	0.707000	0.25704	0.528000	0.28580	0.655000	0.94253	AGA		0.622	ARFGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391425.1	NM_032389		5	24	0	0	0	1	0	5	24				
PPP6C	5537	broad.mit.edu	37	9	127915979	127915979	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:127915979G>C	ENST00000373547.4	-	6	601	c.502C>G	c.(502-504)Cct>Gct	p.P168A	PPP6C_ENST00000451402.1_Missense_Mutation_p.P205A|PPP6C_ENST00000373546.3_Missense_Mutation_p.P21A|PPP6C_ENST00000415905.1_Missense_Mutation_p.P146A	NM_002721.4	NP_002712.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	168					G1/S transition of mitotic cell cycle (GO:0000082)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						TTGATATCAGGAGATAAACCA	0.373																																						ENST00000451402.1																			0				NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						c.(613-615)Cct>Gct		protein phosphatase 6, catalytic subunit							74.0	67.0	69.0					9																	127915979		2203	4300	6503	SO:0001583	missense	5537				G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity	g.chr9:127915979G>C	AF035158	CCDS6861.1, CCDS48018.1, CCDS48019.1	9q33.3	2010-03-17			ENSG00000119414	ENSG00000119414		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9323	protein-coding gene	gene with protein product		612725				9143513	Standard	NM_002721		Approved	PP6	uc004bpg.4	O00743	OTTHUMG00000020671	ENST00000373547.4:c.502C>G	9.37:g.127915979G>C	ENSP00000362648:p.Pro168Ala					PPP6C_ENST00000373547.4_Missense_Mutation_p.P168A|PPP6C_ENST00000415905.1_Missense_Mutation_p.P146A|PPP6C_ENST00000373546.3_Missense_Mutation_p.P21A	p.P205A	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN			7	833	-			168					B2R5V6|B7Z2W9|B7Z5K9|Q5U0A2|Q9UIC9	Missense_Mutation	SNP	ENST00000373547.4	37	c.613C>G	CCDS6861.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.532299	0.64972	.	.	ENSG00000119414	ENST00000373547;ENST00000451402;ENST00000415905;ENST00000373546	T;T;T;T	0.11495	2.77;2.77;2.77;2.77	5.76	4.86	0.63082	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	T	0.49098	0.1537	H	0.97659	4.05	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.997;0.999	T	0.69343	-0.5170	10	0.87932	D	0	-32.4048	15.1905	0.73041	0.0:0.0:0.858:0.142	.	146;205;168	O00743-2;O00743-3;O00743	.;.;PPP6_HUMAN	A	168;205;146;21	ENSP00000362648:P168A;ENSP00000392147:P205A;ENSP00000411744:P146A;ENSP00000362647:P21A	ENSP00000362647:P21A	P	-	1	0	PPP6C	126955800	1.000000	0.71417	1.000000	0.80357	0.552000	0.35366	9.421000	0.97455	1.412000	0.46977	-0.302000	0.09304	CCT		0.373	PPP6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054060.1	NM_016294		26	63	0	0	0	1	0	26	63				
USP37	57695	broad.mit.edu	37	2	219324528	219324528	+	Silent	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:219324528C>G	ENST00000258399.3	-	23	3040	c.2628G>C	c.(2626-2628)ctG>ctC	p.L876L	USP37_ENST00000418019.1_Silent_p.L876L|USP37_ENST00000454775.1_Silent_p.L876L|USP37_ENST00000415516.1_Silent_p.L782L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	876	USP.				G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|protein deubiquitination (GO:0016579)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		CATTTCTTTTCAGTTCCTCAG	0.413																																						ENST00000258399.3																			0				NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35						c.(2626-2628)ctG>ctC		ubiquitin specific peptidase 37							150.0	140.0	144.0					2																	219324528		2203	4300	6503	SO:0001819	synonymous_variant	57695				ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr2:219324528C>G	AB046814	CCDS2418.1	2q35	2008-02-05	2005-08-08		ENSG00000135913	ENSG00000135913		"""Ubiquitin-specific peptidases"""	20063	protein-coding gene	gene with protein product			"""ubiquitin specific protease 37"""			12838346	Standard	NM_020935		Approved	KIAA1594	uc010fvs.1	Q86T82	OTTHUMG00000133113	ENST00000258399.3:c.2628G>C	2.37:g.219324528C>G						USP37_ENST00000418019.1_Silent_p.L876L|USP37_ENST00000454775.1_Silent_p.L876L|USP37_ENST00000415516.1_Silent_p.L782L	p.L876L	NM_020935.2	NP_065986.2	Q86T82	UBP37_HUMAN		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)	23	3040	-		Renal(207;0.0915)	876					A2RUQ8|B7ZM38|B7ZM41|E9PHL3|Q2KHT2|Q53S10|Q7Z3A5|Q9HCH8	Silent	SNP	ENST00000258399.3	37	c.2628G>C	CCDS2418.1																																																																																				0.413	USP37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256779.3	NM_020935		40	60	0	0	0	1	0	40	60				
RIC1	57589	broad.mit.edu	37	9	5765455	5765455	+	Silent	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:5765455T>A	ENST00000414202.2	+	20	3074	c.2883T>A	c.(2881-2883)ctT>ctA	p.L961L	KIAA1432_ENST00000418622.3_Silent_p.L882L|KIAA1432_ENST00000449720.2_Silent_p.L845L|KIAA1432_ENST00000381532.2_Silent_p.L882L|KIAA1432_ENST00000251879.6_Silent_p.L961L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2														breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATGCTACCCTTCTATTCAACA	0.418																																						ENST00000414202.2																			0				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45						c.(2881-2883)ctT>ctA		KIAA1432							172.0	156.0	161.0					9																	5765455		2203	4300	6503	SO:0001819	synonymous_variant	57589					integral to membrane		g.chr9:5765455T>A																												ENST00000414202.2:c.2883T>A	9.37:g.5765455T>A						KIAA1432_ENST00000251879.6_Silent_p.L961L|KIAA1432_ENST00000381532.2_Silent_p.L882L|KIAA1432_ENST00000418622.3_Silent_p.L882L|KIAA1432_ENST00000449720.2_Silent_p.L845L	p.L961L	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)	20	3074	+		Acute lymphoblastic leukemia(23;0.154)	961						Silent	SNP	ENST00000414202.2	37	c.2883T>A	CCDS34982.2	.	.	.	.	.	.	.	.	.	.	T	9.154	1.016963	0.19355	.	.	ENSG00000107036	ENST00000545641	.	.	.	6.17	-0.851	0.10716	.	.	.	.	.	T	0.42268	0.1195	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29761	-1.0001	4	.	.	.	-18.1272	2.4167	0.04437	0.2052:0.0907:0.3789:0.3251	.	.	.	.	T	853	.	.	S	+	1	0	KIAA1432	5755455	0.971000	0.33674	0.999000	0.59377	0.884000	0.51177	-0.045000	0.12003	0.132000	0.18615	0.533000	0.62120	TCT		0.418	KIAA1432-002	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051636.3			39	247	0	0	0	1	0	39	247				
THAP4	51078	broad.mit.edu	37	2	242572703	242572703	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:242572703G>A	ENST00000407315.1	-	2	1300	c.869C>T	c.(868-870)aCc>aTc	p.T290I		NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	290							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CGGTGTCGCGGTAAGTGATGA	0.657																																						ENST00000407315.1																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9						c.(868-870)aCc>aTc		THAP domain containing 4							77.0	83.0	81.0					2																	242572703		2203	4296	6499	SO:0001583	missense	51078						DNA binding|metal ion binding	g.chr2:242572703G>A	AF258556	CCDS2551.1, CCDS54440.1	2q37.3	2013-01-25			ENSG00000176946	ENSG00000176946		"""THAP (C2CH-type zinc finger) domain containing"""	23187	protein-coding gene	gene with protein product		612533				12575992, 10810093	Standard	NM_015963		Approved	CGI-36	uc002wbt.3	Q8WY91	OTTHUMG00000133410	ENST00000407315.1:c.869C>T	2.37:g.242572703G>A	ENSP00000385006:p.Thr290Ile						p.T290I	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)	2	1300	-		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)	290					Q53NU7|Q6GRN0|Q6IPJ3|Q9NW26|Q9Y325	Missense_Mutation	SNP	ENST00000407315.1	37	c.869C>T	CCDS2551.1	.	.	.	.	.	.	.	.	.	.	G	12.77	2.037064	0.35893	.	.	ENSG00000176946	ENST00000407315	D	0.96830	-4.14	5.49	4.62	0.57501	.	0.348368	0.24189	N	0.040740	D	0.92691	0.7677	L	0.29908	0.895	0.80722	D	1	B	0.14012	0.009	B	0.15052	0.012	D	0.89884	0.4032	10	0.87932	D	0	-17.8071	12.6502	0.56757	0.0776:0.0:0.9224:0.0	.	290	Q8WY91	THAP4_HUMAN	I	290	ENSP00000385006:T290I	ENSP00000385006:T290I	T	-	2	0	THAP4	242221376	0.997000	0.39634	0.313000	0.25210	0.008000	0.06430	2.989000	0.49393	1.469000	0.48083	-0.145000	0.13849	ACC		0.657	THAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257267.3	NM_015963		4	119	0	0	0	1	0	4	119				
RNF20	56254	broad.mit.edu	37	9	104314951	104314951	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:104314951C>G	ENST00000389120.3	+	13	1907	c.1817C>G	c.(1816-1818)tCt>tGt	p.S606C	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	606					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GAGAGAGATTCTGCTAAGGAT	0.408																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(1816-1818)tCt>tGt		ring finger protein 20, E3 ubiquitin protein ligase							82.0	86.0	85.0					9																	104314951		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104314951C>G	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1817C>G	9.37:g.104314951C>G	ENSP00000373772:p.Ser606Cys						p.S606C	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	13	1907	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	606					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.1817C>G	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	C	19.56	3.849689	0.71603	.	.	ENSG00000155827	ENST00000389120	T	0.33865	1.39	6.17	6.17	0.99709	.	0.379291	0.28403	N	0.015468	T	0.51736	0.1692	L	0.32530	0.975	0.43673	D	0.996104	D	0.76494	0.999	D	0.69654	0.965	T	0.46816	-0.9164	10	0.66056	D	0.02	-0.7725	19.6509	0.95805	0.0:1.0:0.0:0.0	.	606	Q5VTR2	BRE1A_HUMAN	C	606	ENSP00000373772:S606C	ENSP00000373772:S606C	S	+	2	0	RNF20	103354772	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	1.898000	0.39809	2.941000	0.99782	0.655000	0.94253	TCT		0.408	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		16	70	0	0	0	1	0	16	70				
OGFOD1	55239	broad.mit.edu	37	16	56501083	56501083	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:56501083G>A	ENST00000566157.1	+	7	787	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	OGFOD1_ENST00000568397.1_Intron	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	222	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	TCAGGTGTCTGAAGTGCTGTC	0.473																																						ENST00000566157.1																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(664-666)Gaa>Aaa		2-oxoglutarate and iron-dependent oxygenase domain containing 1	Vitamin C(DB00126)						196.0	190.0	192.0					16																	56501083		2198	4300	6498	SO:0001583	missense	55239						iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr16:56501083G>A	BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.664G>A	16.37:g.56501083G>A	ENSP00000457258:p.Glu222Lys					OGFOD1_ENST00000568397.1_Intron	p.E222K	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN			7	787	+			222			Fe2OG dioxygenase.		H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	ENST00000566157.1	37	c.664G>A	CCDS10761.2	.	.	.	.	.	.	.	.	.	.	G	36	5.942642	0.97128	.	.	ENSG00000087263	ENST00000336111;ENST00000540727	.	.	.	6.06	6.06	0.98353	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.87521	0.6198	H	0.95043	3.615	0.80722	D	1	D	0.62365	0.991	D	0.66084	0.941	D	0.89387	0.3686	9	0.56958	D	0.05	-10.1432	20.2159	0.98296	0.0:0.0:1.0:0.0	.	222	Q8N543	OGFD1_HUMAN	K	222;66	.	ENSP00000337196:E222K	E	+	1	0	OGFOD1	55058584	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.591000	0.98241	2.882000	0.98803	0.655000	0.94253	GAA		0.473	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256976.3	NM_018233		35	153	0	0	0	1	0	35	153				
KIAA1407	57577	broad.mit.edu	37	3	113721347	113721347	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:113721347G>A	ENST00000295878.3	-	12	2163	c.2017C>T	c.(2017-2019)Cgg>Tgg	p.R673W	KIAA1407_ENST00000545063.1_3'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	673										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GCCAAGATCCGCCTACATTCA	0.328																																						ENST00000295878.3																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(2017-2019)Cgg>Tgg		KIAA1407							111.0	102.0	105.0					3																	113721347		2203	4299	6502	SO:0001583	missense	57577							g.chr3:113721347G>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.2017C>T	3.37:g.113721347G>A	ENSP00000295878:p.Arg673Trp					KIAA1407_ENST00000545063.1_3'UTR	p.R673W	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN			12	2163	-			673					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.2017C>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	G	14.95	2.689189	0.48097	.	.	ENSG00000163617	ENST00000295878	T	0.33654	1.4	5.35	1.29	0.21616	.	0.301147	0.36200	N	0.002740	T	0.31918	0.0812	M	0.71581	2.175	0.58432	D	0.999999	B	0.21309	0.054	B	0.12156	0.007	T	0.19582	-1.0301	10	0.87932	D	0	.	4.9469	0.13994	0.1663:0.0:0.392:0.4417	.	673	Q8NCU4	K1407_HUMAN	W	673	ENSP00000295878:R673W	ENSP00000295878:R673W	R	-	1	2	KIAA1407	115204037	0.997000	0.39634	0.968000	0.41197	0.587000	0.36485	2.294000	0.43567	0.465000	0.27167	0.655000	0.94253	CGG		0.328	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		15	74	0	0	0	1	0	15	74				
SLC51A	200931	broad.mit.edu	37	3	195953918	195953918	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:195953918C>T	ENST00000296327.5	+	3	425	c.216C>T	c.(214-216)gcC>gcT	p.A72A		NM_152672.5	NP_689885.4	Q86UW1	OSTA_HUMAN	solute carrier family 51, alpha subunit	72					bile acid and bile salt transport (GO:0015721)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)									Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)	TGGAGGATGCCGTCTACCTGT	0.632																																						ENST00000296327.5																			0											c.(214-216)gcC>gcT		solute carrier family 51, alpha subunit							131.0	114.0	120.0					3																	195953918		2203	4300	6503	SO:0001819	synonymous_variant	200931							g.chr3:195953918C>T		CCDS3314.1	3q29	2013-05-22			ENSG00000163959	ENSG00000163959		"""Solute carriers"""	29955	protein-coding gene	gene with protein product	"""organic solute transporter, alpha subunit"""	612084				12719432, 20538072	Standard	NM_152672		Approved	OSTalpha	uc003fwd.3	Q86UW1	OTTHUMG00000155684	ENST00000296327.5:c.216C>T	3.37:g.195953918C>T							p.A72A	NM_152672.5	NP_689885.4					3	425	+								Q6ZMC7	Silent	SNP	ENST00000296327.5	37	c.216C>T	CCDS3314.1	.	.	.	.	.	.	.	.	.	.	C	6.204	0.405721	0.11754	.	.	ENSG00000163959	ENST00000428985	.	.	.	5.63	-11.3	0.00108	.	.	.	.	.	T	0.49745	0.1575	.	.	.	0.41794	D	0.989888	.	.	.	.	.	.	T	0.63976	-0.6515	4	.	.	.	.	11.7891	0.52059	0.1629:0.5569:0.0:0.2802	.	.	.	.	L	43	.	.	P	+	2	0	AC069257.9	197438315	0.000000	0.05858	0.105000	0.21289	0.559000	0.35586	-1.445000	0.02401	-2.201000	0.00746	-0.440000	0.05779	CCG		0.632	SLC51A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341253.1	NM_152672		17	89	0	0	0	1	0	17	89				
SPATA19	219938	broad.mit.edu	37	11	133714533	133714533	+	Silent	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:133714533T>A	ENST00000299140.3	-	3	192	c.138A>T	c.(136-138)acA>acT	p.T46T	SPATA19_ENST00000532889.1_Silent_p.T46T	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	46					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		CCTCTTCTTCTGTCTGAAAGG	0.488																																						ENST00000299140.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11						c.(136-138)acA>acT		spermatogenesis associated 19							91.0	93.0	92.0					11																	133714533		2201	4297	6498	SO:0001819	synonymous_variant	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133714533T>A	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.138A>T	11.37:g.133714533T>A						SPATA19_ENST00000532889.1_Silent_p.T46T	p.T46T	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	3	192	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	46					Q8N7A9	Silent	SNP	ENST00000299140.3	37	c.138A>T	CCDS8493.1																																																																																				0.488	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		20	46	0	0	0	1	0	20	46				
GIMAP1	170575	broad.mit.edu	37	7	150417607	150417607	+	Missense_Mutation	SNP	G	G	A	rs142041443	byFrequency	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:150417607G>A	ENST00000307194.5	+	3	655	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_130759.3	NP_570115.1	Q8WWP7	GIMA1_HUMAN	GTPase, IMAP family member 1	172	AIG1-type G.				B cell differentiation (GO:0030183)|T cell differentiation (GO:0030217)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACAGAGAACCGGGCCTTGCGC	0.652																																						ENST00000307194.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28						c.(514-516)cGg>cAg		GTPase, IMAP family member 1		G	,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	47.0	52.0	50.0		,515	-0.6	0.1	7	dbSNP_134	50	0,8600		0,0,4300	no	intron,missense	GIMAP1,GIMAP1-GIMAP5	NM_001199577.1,NM_130759.3	,43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,possibly-damaging	,172/307	150417607	1,13005	2203	4300	6503	SO:0001583	missense	170575							g.chr7:150417607G>A	AJ306287	CCDS5906.1	7q36.1	2014-04-04			ENSG00000213203	ENSG00000213203		"""GTPases, IMAP"""	23237	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 2"""	608084				15474311, 18701445	Standard	NM_130759		Approved	HIMAP1, IMAP38, IMAP1, IAN2		Q8WWP7	OTTHUMG00000157489	ENST00000307194.5:c.515G>A	7.37:g.150417607G>A	ENSP00000302833:p.Arg172Gln						p.R172Q	NM_130759.3	NP_570115.1			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	655	+								B2RCI3|Q8NAZ0	Missense_Mutation	SNP	ENST00000307194.5	37	c.515G>A	CCDS5906.1	.	.	.	.	.	.	.	.	.	.	G	8.549	0.875180	0.17395	2.27E-4	0.0	ENSG00000213203	ENST00000307194	T	0.60672	0.17	4.81	-0.575	0.11734	AIG1 (1);	0.340167	0.12286	U	0.482450	T	0.30634	0.0771	N	0.21097	0.63	0.09310	N	1	B	0.29552	0.248	B	0.14578	0.011	T	0.12502	-1.0545	10	0.14656	T	0.56	.	3.2956	0.06965	0.4305:0.0:0.3834:0.1861	.	172	Q8WWP7	GIMA1_HUMAN	Q	172	ENSP00000302833:R172Q	ENSP00000302833:R172Q	R	+	2	0	GIMAP1	150048540	0.000000	0.05858	0.128000	0.21923	0.152000	0.21847	-1.390000	0.02528	0.001000	0.14605	-0.142000	0.14014	CGG		0.652	GIMAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348951.2	NM_130759		22	55	0	0	0	1	0	22	55				
CNNM1	26507	broad.mit.edu	37	10	101124216	101124216	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:101124216G>A	ENST00000356713.4	+	5	2360	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	CNNM1_ENST00000370534.4_Missense_Mutation_p.E326K|CNNM1_ENST00000446890.1_Missense_Mutation_p.E620K|CNNM1_ENST00000370528.3_Missense_Mutation_p.E620K	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 1	691					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CCTTCGCTTTGAAAATGGAGC	0.418																																						ENST00000356713.4																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25						c.(2071-2073)Gaa>Aaa		cyclin M1							118.0	94.0	102.0					10																	101124216		2203	4300	6503	SO:0001583	missense	26507				ion transport	integral to membrane|plasma membrane		g.chr10:101124216G>A	AF169226	CCDS7478.2	10q24.2	2014-08-08	2014-08-07		ENSG00000119946	ENSG00000119946			102	protein-coding gene	gene with protein product		607802	"""cyclin M1"""	ACDP1		21393841	Standard	NM_020348		Approved		uc001kpp.4	Q9NRU3	OTTHUMG00000018881	ENST00000356713.4:c.2071G>A	10.37:g.101124216G>A	ENSP00000349147:p.Glu691Lys					CNNM1_ENST00000370534.4_Missense_Mutation_p.E326K|CNNM1_ENST00000370528.3_Missense_Mutation_p.E620K|CNNM1_ENST00000446890.1_Missense_Mutation_p.E620K	p.E691K	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)	5	2360	+		Colorectal(252;0.234)	691					Q4QQG7|Q4QQH8|Q4QQP9|Q9NT45	Missense_Mutation	SNP	ENST00000356713.4	37	c.2071G>A	CCDS7478.2	.	.	.	.	.	.	.	.	.	.	G	35	5.479458	0.96307	.	.	ENSG00000119946	ENST00000356713;ENST00000446890;ENST00000370528;ENST00000370534;ENST00000545665	D;D;D;T	0.89875	-2.51;-2.58;-2.49;-1.47	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.95771	0.8624	M	0.90650	3.135	0.80722	D	1	D;P;D;D	0.89917	1.0;0.934;0.965;0.984	D;P;P;P	0.77004	0.989;0.734;0.806;0.88	D	0.96060	0.9038	10	0.87932	D	0	-10.2601	19.8006	0.96506	0.0:0.0:1.0:0.0	.	326;691;326;691	F5H5J0;Q9NRU3-2;B7Z5S3;Q9NRU3	.;.;.;CNNM1_HUMAN	K	691;620;620;326;144	ENSP00000349147:E691K;ENSP00000406492:E620K;ENSP00000359559:E620K;ENSP00000359565:E326K	ENSP00000349147:E691K	E	+	1	0	CNNM1	101114206	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	9.624000	0.98398	2.687000	0.91594	0.462000	0.41574	GAA		0.418	CNNM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049792.2	NM_020348		6	16	0	0	0	1	0	6	16				
EPHA3	2042	broad.mit.edu	37	3	89391076	89391076	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:89391076G>A	ENST00000336596.2	+	5	1367	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	EPHA3_ENST00000494014.1_Missense_Mutation_p.R381H|EPHA3_ENST00000452448.2_Missense_Mutation_p.R381H	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	381	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.R381H(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCAAATGTCCGCTTCCTCCCT	0.483										TSP Lung(6;0.00050)																												ENST00000336596.2																			1	Substitution - Missense(1)	p.R381H(1)	large_intestine(1)	NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1141-1143)cGc>cAc		EPH receptor A3							113.0	102.0	106.0					3																	89391076		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89391076G>A	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1142G>A	3.37:g.89391076G>A	ENSP00000337451:p.Arg381His	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.R381H|EPHA3_ENST00000452448.2_Missense_Mutation_p.R381H	p.R381H	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	5	1367	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	381			Fibronectin type-III 1.		Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1142G>A	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	10.29	1.310694	0.23821	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.58060	0.36;0.36;0.36	5.66	1.87	0.25490	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.193896	0.56097	N	0.000026	T	0.42154	0.1190	L	0.51422	1.61	0.46654	D	0.999146	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.0	T	0.21177	-1.0253	9	.	.	.	.	9.9111	0.41406	0.3263:0.0:0.6737:0.0	.	381;381	P29320;P29320-2	EPHA3_HUMAN;.	H	381	ENSP00000337451:R381H;ENSP00000399926:R381H;ENSP00000419190:R381H	.	R	+	2	0	EPHA3	89473766	0.985000	0.35326	1.000000	0.80357	0.999000	0.98932	2.453000	0.44970	0.438000	0.26450	0.655000	0.94253	CGC		0.483	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		54	83	0	0	0	1	0	54	83				
CACNA1A	773	broad.mit.edu	37	19	13446718	13446718	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:13446718G>A	ENST00000360228.5	-	7	983	c.984C>T	c.(982-984)aaC>aaT	p.N328N	CACNA1A_ENST00000573710.2_Silent_p.N328N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	328					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CTGAGGCATCGTTGCTCTGTA	0.532																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(982-984)aaC>aaT		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						72.0	71.0	71.0					19																	13446718		2062	4213	6275	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13446718G>A	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.984C>T	19.37:g.13446718G>A						CACNA1A_ENST00000573710.2_Silent_p.N328N	p.N328N	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		7	983	-			328					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.984C>T	CCDS45998.1																																																																																				0.532	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		3	13	0	0	0	1	0	3	13				
FOXRED2	80020	broad.mit.edu	37	22	36900703	36900703	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:36900703C>A	ENST00000397224.4	-	3	731	c.638G>T	c.(637-639)gGc>gTc	p.G213V	FOXRED2_ENST00000216187.6_Missense_Mutation_p.G213V|FOXRED2_ENST00000397223.4_Missense_Mutation_p.G213V	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN	FAD-dependent oxidoreductase domain containing 2	213					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	flavin adenine dinucleotide binding (GO:0050660)|glycoprotein binding (GO:0001948)|oxidoreductase activity (GO:0016491)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CACATTCTGGCCTACAAAGTC	0.547																																						ENST00000397224.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(637-639)gGc>gTc		FAD-dependent oxidoreductase domain containing 2							78.0	65.0	69.0					22																	36900703		2203	4300	6503	SO:0001583	missense	80020				ER-associated protein catabolic process	endoplasmic reticulum lumen	flavin adenine dinucleotide binding|oxidoreductase activity|protein binding	g.chr22:36900703C>A	BC027716	CCDS13929.1	22q12.3	2006-07-05			ENSG00000100350	ENSG00000100350			26264	protein-coding gene	gene with protein product		613777				12477932	Standard	NM_024955		Approved	FLJ23322	uc003app.4	Q8IWF2	OTTHUMG00000044614	ENST00000397224.4:c.638G>T	22.37:g.36900703C>A	ENSP00000380401:p.Gly213Val					FOXRED2_ENST00000216187.6_Missense_Mutation_p.G213V|FOXRED2_ENST00000397223.4_Missense_Mutation_p.G213V	p.G213V	NM_001102371.1	NP_001095841.1	Q8IWF2	FXRD2_HUMAN			3	731	-			213					B2RDI4|Q8N378|Q96BD1|Q9H5L5|Q9H6M8	Missense_Mutation	SNP	ENST00000397224.4	37	c.638G>T	CCDS13929.1	.	.	.	.	.	.	.	.	.	.	C	17.40	3.381017	0.61845	.	.	ENSG00000100350	ENST00000397224;ENST00000216187;ENST00000397223	T;T;T	0.22539	1.95;1.95;1.95	5.6	4.58	0.56647	Pyridine nucleotide-disulphide oxidoreductase, FAD/NAD(P)-binding domain (1);	0.095569	0.64402	D	0.000001	T	0.58764	0.2145	H	0.94658	3.565	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73424	-0.3987	10	0.87932	D	0	-15.0223	15.972	0.80027	0.1357:0.8643:0.0:0.0	.	213	Q8IWF2	FXRD2_HUMAN	V	213	ENSP00000380401:G213V;ENSP00000216187:G213V;ENSP00000380400:G213V	ENSP00000216187:G213V	G	-	2	0	FOXRED2	35230649	1.000000	0.71417	0.972000	0.41901	0.563000	0.35712	5.925000	0.70062	1.349000	0.45751	0.655000	0.94253	GGC		0.547	FOXRED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104098.2	NM_024955		5	35	1	0	1	1	1	5	35				
ZNF568	374900	broad.mit.edu	37	19	37440671	37440671	+	Nonsense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:37440671G>T	ENST00000333987.7	+	7	1122	c.616G>T	c.(616-618)Gag>Tag	p.E206*	ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000415168.1_Nonsense_Mutation_p.E142*	NM_001204835.1|NM_198539.3	NP_001191764.1|NP_940941.2	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	206					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACAGAGTAATGAGTTTGGGAA	0.368																																						ENST00000415168.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29						c.(424-426)Gag>Tag		zinc finger protein 568							117.0	111.0	112.0					19																	37440671		1942	4150	6092	SO:0001587	stop_gained	374900				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37440671G>T	BX640681	CCDS42558.1, CCDS56092.1, CCDS56093.1, CCDS74351.1	19q13.12	2013-09-20			ENSG00000198453	ENSG00000198453		"""Zinc fingers, C2H2-type"", ""-"""	25392	protein-coding gene	gene with protein product							Standard	NM_198539		Approved	DKFZp686B0797	uc002ofc.3	Q3ZCX4	OTTHUMG00000048160	ENST00000333987.7:c.616G>T	19.37:g.37440671G>T	ENSP00000334685:p.Glu206*					ZNF568_ENST00000427117.1_Intron|ZNF568_ENST00000333987.7_Nonsense_Mutation_p.E206*|ZNF568_ENST00000455427.2_Intron	p.E142*	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	800	+	Esophageal squamous(110;0.183)		206					B4DS92|E7ER33|Q6N060|Q8NA64	Nonsense_Mutation	SNP	ENST00000333987.7	37	c.424G>T	CCDS42558.1	.	.	.	.	.	.	.	.	.	.	G	17.64	3.438674	0.62955	.	.	ENSG00000198453	ENST00000333987;ENST00000415168	.	.	.	4.51	-1.9	0.07665	.	0.930262	0.08800	N	0.891928	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	8.5572	0.33489	0.5574:0.0:0.4426:0.0	.	.	.	.	X	206;142	.	ENSP00000334685:E206X	E	+	1	0	ZNF568	42132511	0.000000	0.05858	0.000000	0.03702	0.322000	0.28314	-0.171000	0.09883	-0.358000	0.08162	0.650000	0.86243	GAG		0.368	ZNF568-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109572.2	NM_198539		42	115	1	0	6.5261e-18	1	7.07298e-18	42	115				
KRTAP4-11	653240	broad.mit.edu	37	17	39274087	39274087	+	Missense_Mutation	SNP	G	G	C	rs141357429		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:39274087G>C	ENST00000391413.2	-	1	519	c.481C>G	c.(481-483)Ctg>Gtg	p.L161V		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	161	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament (GO:0045095)		p.L161V(1)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACTGGACGCAGGcagcagcag	0.657																																						ENST00000391413.2																			1	Substitution - Missense(1)	p.L161V(1)	prostate(1)	endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(481-483)Ctg>Gtg		keratin associated protein 4-11							17.0	21.0	20.0					17																	39274087		692	1589	2281	SO:0001583	missense	653240					keratin filament		g.chr17:39274087G>C	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.481C>G	17.37:g.39274087G>C	ENSP00000375232:p.Leu161Val						p.L161V	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	519	-		Breast(137;0.000496)	161			27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Missense_Mutation	SNP	ENST00000391413.2	37	c.481C>G	CCDS45675.1	249	0.11401098901098901	67	0.13617886178861788	40	0.11049723756906077	104	0.18181818181818182	38	0.05013192612137203	.	1.347	-0.592411	0.03799	.	.	ENSG00000212721	ENST00000391413	T	0.00614	6.21	4.35	0.986	0.19784	.	.	.	.	.	T	0.00012	0.0000	L	0.31752	0.955	0.80722	P	0.0	B	0.30068	0.267	B	0.18871	0.023	T	0.19063	-1.0317	8	0.11794	T	0.64	.	5.8913	0.18915	0.1751:0.0:0.6569:0.168	.	161	Q9BYQ6	KR411_HUMAN	V	161	ENSP00000375232:L161V	ENSP00000375232:L161V	L	-	1	2	KRTAP4-11	36527613	0.671000	0.27521	0.912000	0.35992	0.970000	0.65996	0.971000	0.29396	0.348000	0.23949	0.609000	0.83330	CTG		0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			7	24	0	0	0	1	0	7	24				
PCDHB12	56124	broad.mit.edu	37	5	140590690	140590690	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:140590690G>A	ENST00000239450.2	+	1	2400	c.2211G>A	c.(2209-2211)gtG>gtA	p.V737V	PCDHB13_ENST00000341948.4_5'Flank|PCDHB12_ENST00000541609.1_Silent_p.V400V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	737					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACATCTGGTGGACGTGAGTG	0.607																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(2209-2211)gtG>gtA									70.0	76.0	74.0					5																	140590690		2203	4300	6503	SO:0001819	synonymous_variant	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590690G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.2211G>A	5.37:g.140590690G>A						PCDHB12_ENST00000541609.1_Silent_p.V400V	p.V737V	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2400	+			737					B4DDU1	Silent	SNP	ENST00000239450.2	37	c.2211G>A	CCDS4254.1																																																																																				0.607	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		36	144	0	0	0	1	0	36	144				
OR10A3	26496	broad.mit.edu	37	11	7960925	7960925	+	Missense_Mutation	SNP	A	A	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:7960925A>C	ENST00000360759.3	-	1	216	c.143T>G	c.(142-144)aTc>aGc	p.I48S		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	48					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAAGGAGATGATGACTGTAAT	0.478																																						ENST00000360759.3																			0				endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21						c.(142-144)aTc>aGc		olfactory receptor, family 10, subfamily A, member 3							127.0	117.0	120.0					11																	7960925		2201	4296	6497	SO:0001583	missense	26496				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:7960925A>C	BK004404	CCDS31421.1	11p15.4	2012-08-09			ENSG00000170683	ENSG00000170683		"""GPCR / Class A : Olfactory receptors"""	8162	protein-coding gene	gene with protein product						1370859	Standard	NM_001003745		Approved	HTPCRX12, HSHTPCRX12	uc010rbi.2	P58181	OTTHUMG00000165672	ENST00000360759.3:c.143T>G	11.37:g.7960925A>C	ENSP00000353988:p.Ile48Ser						p.I48S	NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN		Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)	1	216	-			48					B9EH39|Q6IF58|Q96R11	Missense_Mutation	SNP	ENST00000360759.3	37	c.143T>G	CCDS31421.1	.	.	.	.	.	.	.	.	.	.	A	8.619	0.890950	0.17613	.	.	ENSG00000170683	ENST00000360759	T	0.02837	4.14	4.95	3.83	0.44106	GPCR, rhodopsin-like superfamily (1);	0.936305	0.08731	U	0.902024	T	0.06325	0.0163	L	0.60012	1.86	0.24266	N	0.995261	B	0.33549	0.417	B	0.39876	0.312	T	0.37150	-0.9718	10	0.66056	D	0.02	.	8.984	0.35983	0.9117:0.0:0.0883:0.0	.	48	P58181	O10A3_HUMAN	S	48	ENSP00000353988:I48S	ENSP00000353988:I48S	I	-	2	0	OR10A3	7917501	0.001000	0.12720	0.734000	0.30879	0.019000	0.09904	1.532000	0.36029	1.030000	0.39839	0.528000	0.53228	ATC		0.478	OR10A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385704.1	NM_001003745		27	110	0	0	0	1	0	27	110				
PIGZ	80235	broad.mit.edu	37	3	196678695	196678695	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:196678695C>T	ENST00000412723.1	-	2	354	c.208G>A	c.(208-210)Gca>Aca	p.A70T	PIGZ_ENST00000443835.1_Missense_Mutation_p.A70T	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	70					GPI anchor biosynthetic process (GO:0006506)|mannosylation (GO:0097502)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	alpha-1,2-mannosyltransferase activity (GO:0000026)|mannosyltransferase activity (GO:0000030)			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GTTTTACCTGCCATCACCTCA	0.577																																						ENST00000412723.1																			0				breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14						c.(208-210)Gca>Aca		phosphatidylinositol glycan anchor biosynthesis, class Z							61.0	56.0	58.0					3																	196678695		2203	4300	6503	SO:0001583	missense	80235				GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity	g.chr3:196678695C>T	BC018804	CCDS3324.1	3q29	2013-02-26	2006-06-28		ENSG00000119227	ENSG00000119227		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	30596	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 4"", ""dol-P-Man dependent GPI mannosyltransferase"""	611671	"""phosphatidylinositol glycan, class Z"""			15208306	Standard	NM_025163		Approved	FLJ12768, MGC52163, SMP3	uc003fxh.3	Q86VD9	OTTHUMG00000155522	ENST00000412723.1:c.208G>A	3.37:g.196678695C>T	ENSP00000413405:p.Ala70Thr					PIGZ_ENST00000443835.1_Missense_Mutation_p.A70T	p.A70T	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)	2	354	-	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		70					Q9H9G6	Missense_Mutation	SNP	ENST00000412723.1	37	c.208G>A	CCDS3324.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.9|23.9	4.465828|4.465828	0.84425|0.84425	.|.	.|.	ENSG00000119227|ENSG00000119227	ENST00000412723;ENST00000443835|ENST00000413127	T|.	0.15487|.	2.42|.	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	0.000000|.	0.52532|.	D|.	0.000076|.	T|T	0.74650|0.74650	0.3744|0.3744	M|M	0.75264|0.75264	2.295|2.295	0.37342|0.37342	D|D	0.910414|0.910414	D|.	0.71674|.	0.998|.	D|.	0.67900|.	0.954|.	T|T	0.79412|0.79412	-0.1814|-0.1814	10|5	0.38643|.	T|.	0.18|.	.|.	16.3151|16.3151	0.82915|0.82915	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	70|.	Q86VD9|.	PIGZ_HUMAN|.	T|D	70|36	ENSP00000413405:A70T|.	ENSP00000413405:A70T|.	A|G	-|-	1|2	0|0	PIGZ|PIGZ	198163092|198163092	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.774000|0.774000	0.43823|0.43823	4.872000|4.872000	0.63050|0.63050	2.273000|2.273000	0.75805|0.75805	0.462000|0.462000	0.41574|0.41574	GCA|GGC		0.577	PIGZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340486.2	NM_025163		18	23	0	0	0	1	0	18	23				
TDRD6	221400	broad.mit.edu	37	6	46658913	46658913	+	Silent	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:46658913A>G	ENST00000316081.6	+	1	3048	c.3048A>G	c.(3046-3048)tcA>tcG	p.S1016S	TDRD6_ENST00000544460.1_Silent_p.S1016S	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1016					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AACAGTTGTCATGTAGTATTA	0.348																																						ENST00000544460.1																			0				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(3046-3048)tcA>tcG		tudor domain containing 6							49.0	54.0	52.0					6																	46658913		2203	4300	6503	SO:0001819	synonymous_variant	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46658913A>G	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.3048A>G	6.37:g.46658913A>G						TDRD6_ENST00000316081.6_Silent_p.S1016S	p.S1016S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	3302	+			1016					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Silent	SNP	ENST00000316081.6	37	c.3048A>G	CCDS34470.1																																																																																				0.348	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443		29	93	0	0	0	1	0	29	93				
MLYCD	23417	broad.mit.edu	37	16	83945885	83945885	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:83945885C>T	ENST00000262430.4	+	4	880	c.861C>T	c.(859-861)atC>atT	p.I287I	RP11-505K9.4_ENST00000566309.1_Silent_p.I57I|RP11-505K9.4_ENST00000561562.1_3'UTR	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	287	Catalytic domain.				acetyl-CoA biosynthetic process (GO:0006085)|cellular lipid metabolic process (GO:0044255)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA catabolic process (GO:2001294)|positive regulation of fatty acid oxidation (GO:0046321)|regulation of glucose metabolic process (GO:0010906)|response to ischemia (GO:0002931)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	malonyl-CoA decarboxylase activity (GO:0050080)|receptor binding (GO:0005102)			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CTGCTGCGATCTTTTATTCCA	0.507																																						ENST00000262430.4																			0				NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						c.(859-861)atC>atT		malonyl-CoA decarboxylase							77.0	81.0	80.0					16																	83945885		1979	4165	6144	SO:0001819	synonymous_variant	23417				acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity	g.chr16:83945885C>T	AF153679	CCDS42206.1	16q24	2009-02-04				ENSG00000103150			7150	protein-coding gene	gene with protein product		606761				10455107, 9869665	Standard	NM_012213		Approved	MCD, hMCD	uc002fgz.3	O95822		ENST00000262430.4:c.861C>T	16.37:g.83945885C>T						RP11-505K9.4_ENST00000561562.1_RNA	p.I287I	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN			4	880	+			287					Q9UNU5|Q9Y3F2	Silent	SNP	ENST00000262430.4	37	c.861C>T	CCDS42206.1																																																																																				0.507	MLYCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433009.1	NM_012213		16	54	0	0	0	1	0	16	54				
ZNF664	144348	broad.mit.edu	37	12	124497326	124497326	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr12:124497326C>T	ENST00000539644.1	+	6	2465	c.635C>T	c.(634-636)tCg>tTg	p.S212L	ZNF664_ENST00000392404.3_Missense_Mutation_p.S212L|ZNF664_ENST00000538932.2_Missense_Mutation_p.S212L|FAM101A_ENST00000545615.1_Intron|ZNF664_ENST00000337815.4_Missense_Mutation_p.S212L			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	212					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		AGTCAGAGTTCGAGCCTGTGC	0.527																																						ENST00000539644.1																			0				breast(1)|large_intestine(5)|lung(6)|skin(1)	13						c.(634-636)tCg>tTg		zinc finger protein 664							100.0	99.0	100.0					12																	124497326		2203	4300	6503	SO:0001583	missense	144348				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:124497326C>T		CCDS9257.1	12q24.31	2013-05-10			ENSG00000179195	ENSG00000179195		"""Zinc fingers, C2H2-type"""	25406	protein-coding gene	gene with protein product			"""zinc finger protein 176"""	ZNF176		12477932	Standard	NM_001204298		Approved	ZFOC1, DKFZp761B128	uc001uga.3	Q8N3J9	OTTHUMG00000168596	ENST00000539644.1:c.635C>T	12.37:g.124497326C>T	ENSP00000441405:p.Ser212Leu					ZNF664_ENST00000392404.3_Missense_Mutation_p.S212L|ZNF664_ENST00000337815.4_Missense_Mutation_p.S212L|ZNF664_ENST00000538932.2_Missense_Mutation_p.S212L|RP11-522N14.1_ENST00000540762.1_RNA	p.S212L			Q8N3J9	ZN664_HUMAN		Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)	6	2465	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		212					B3KP97|Q15914|Q3ZCQ7	Missense_Mutation	SNP	ENST00000539644.1	37	c.635C>T	CCDS9257.1	.	.	.	.	.	.	.	.	.	.	C	15.93	2.978160	0.53720	.	.	ENSG00000179195	ENST00000539644;ENST00000392404;ENST00000538932;ENST00000337815;ENST00000535937	T;T;T;T	0.07444	3.19;3.19;3.19;3.19	4.25	4.25	0.50352	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38778	N	0.001570	T	0.16769	0.0403	M	0.82193	2.58	0.26075	N	0.981167	D	0.56968	0.978	B	0.43680	0.427	T	0.17961	-1.0352	10	0.87932	D	0	-32.8358	14.9673	0.71204	0.0:1.0:0.0:0.0	.	212	Q8N3J9	ZN664_HUMAN	L	212;212;212;212;150	ENSP00000441405:S212L;ENSP00000376205:S212L;ENSP00000440645:S212L;ENSP00000337320:S212L	ENSP00000337320:S212L	S	+	2	0	ZNF664	123063279	0.000000	0.05858	0.988000	0.46212	0.944000	0.59088	0.744000	0.26245	2.651000	0.90000	0.655000	0.94253	TCG		0.527	ZNF664-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400365.1	NM_152437		32	99	0	0	0	1	0	32	99				
NXF4	55999	broad.mit.edu	37	X	101805037	101805037	+	RNA	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:101805037G>C	ENST00000360035.2	+	0	145					NR_002216.1				nuclear RNA export factor 4 pseudogene											endometrium(2)|lung(8)	10						GGAGGTTAAGGGGGATCCTGA	0.537																																						ENST00000360035.2																			0				endometrium(2)|lung(8)	10																																														55999							g.chrX:101805037G>C	AK124700		Xq22	2005-01-24			ENSG00000196970	ENSG00000196970			8074	pseudogene	pseudogene		300318	"""nuclear RNA export factor 4"""			11566096	Standard	NR_002216		Approved		uc004ejf.1		OTTHUMG00000039695		X.37:g.101805037G>C								NR_002216.1						0	145	+									RNA	SNP	ENST00000360035.2	37																																																																																						0.537	NXF4-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000095720.1			42	41	0	0	0	1	0	42	41				
NFE2L1	4779	broad.mit.edu	37	17	46136577	46136577	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:46136577C>T	ENST00000362042.3	+	6	2509	c.1893C>T	c.(1891-1893)atC>atT	p.I631I	RP5-890E16.4_ENST00000583349.1_RNA|NFE2L1_ENST00000585291.1_Silent_p.I601I|NFE2L1_ENST00000582155.1_Silent_p.I443I|NFE2L1_ENST00000583378.1_Silent_p.I432I|NFE2L1_ENST00000361665.3_Silent_p.I620I|NFE2L1_ENST00000357480.5_Silent_p.I601I|NFE2L1_ENST00000536222.1_Silent_p.I475I	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	631					anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAAAATCATCAACCTGCCTG	0.552																																						ENST00000362042.3																			0				cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(1891-1893)atC>atT		nuclear factor, erythroid 2-like 1							51.0	45.0	47.0					17																	46136577		2203	4300	6503	SO:0001819	synonymous_variant	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46136577C>T	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.1893C>T	17.37:g.46136577C>T						NFE2L1_ENST00000582155.1_Silent_p.I443I|NFE2L1_ENST00000583378.1_Silent_p.I432I|NFE2L1_ENST00000536222.1_Silent_p.I475I|NFE2L1_ENST00000361665.3_Silent_p.I620I|NFE2L1_ENST00000357480.5_Silent_p.I601I|NFE2L1_ENST00000585291.1_Silent_p.I601I	p.I631I	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			6	2509	+			631					D3DTU3|D3DTU5|Q12877|Q96FN6	Silent	SNP	ENST00000362042.3	37	c.1893C>T	CCDS11524.1																																																																																				0.552	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		23	46	0	0	0	1	0	23	46				
PRAC1	84366	broad.mit.edu	37	17	46799746	46799746	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:46799746G>A	ENST00000290294.3	-	1	138	c.9C>T	c.(7-9)tgC>tgT	p.C3C	PRAC2_ENST00000422730.2_RNA|PRAC2_ENST00000432056.1_RNA|MIR3185_ENST00000583892.1_RNA	NM_032391.2	NP_115767.1	Q96KF2	PRAC1_HUMAN	prostate cancer susceptibility candidate 1	3						nucleus (GO:0005634)											AGAAATGGGCGCACAACATCG	0.532																																						ENST00000290294.3																			0				kidney(1)|lung(2)	3						c.(7-9)tgC>tgT									117.0	102.0	107.0					17																	46799746		2203	4300	6503	SO:0001819	synonymous_variant	84366					nucleus		g.chr17:46799746G>A	AF331165	CCDS11535.1	17q21	2013-08-29	2013-08-29	2013-08-29	ENSG00000159182	ENSG00000159182			30591	protein-coding gene	gene with protein product	"""prostate, rectum and colon"""	609819	"""chromosome 17 open reading frame 92"", ""prostate cancer susceptibility candidate"""	C17orf92, PRAC		11340635	Standard	NM_032391		Approved		uc002iny.3	Q96KF2	OTTHUMG00000159899	ENST00000290294.3:c.9C>T	17.37:g.46799746G>A							p.C3C	NM_032391.2	NP_115767.1	Q96KF2	PRAC_HUMAN			1	138	-			3						Silent	SNP	ENST00000290294.3	37	c.9C>T	CCDS11535.1																																																																																				0.532	PRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358086.1	NM_032391		4	86	0	0	0	1	0	4	86				
TARDBP	23435	broad.mit.edu	37	1	11080535	11080535	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:11080535G>A	ENST00000240185.3	+	5	707	c.593G>A	c.(592-594)tGt>tAt	p.C198Y	TARDBP_ENST00000315091.3_Missense_Mutation_p.C198Y|TARDBP_ENST00000439080.2_Missense_Mutation_p.C82Y	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	198	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.|RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GTGGGGCGCTGTACAGAGGAC	0.453																																						ENST00000240185.3																			0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11						c.(592-594)tGt>tAt		TAR DNA binding protein							130.0	128.0	129.0					1																	11080535		2203	4300	6503	SO:0001583	missense	23435				3'-UTR-mediated mRNA stabilization|cell death|mRNA processing|negative regulation by host of viral transcription|RNA splicing|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|mRNA 3'-UTR binding|nucleotide binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:11080535G>A	U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.593G>A	1.37:g.11080535G>A	ENSP00000240185:p.Cys198Tyr					TARDBP_ENST00000315091.3_Missense_Mutation_p.C198Y|TARDBP_ENST00000439080.2_Missense_Mutation_p.C82Y	p.C198Y	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)	5	707	+	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	198			RRM 1.|RRM 2.		A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	ENST00000240185.3	37	c.593G>A	CCDS122.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.113512	0.77210	.	.	ENSG00000120948	ENST00000240185;ENST00000439080;ENST00000315091	T;T;T	0.74106	-0.81;-0.81;2.39	5.76	5.76	0.90799	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (4);	0.000000	0.85682	D	0.000000	T	0.64897	0.2640	N	0.03608	-0.345	0.80722	D	1	B;P	0.37548	0.302;0.599	B;P	0.45167	0.166;0.472	T	0.72478	-0.4281	10	0.72032	D	0.01	-19.5649	19.9759	0.97304	0.0:0.0:1.0:0.0	.	82;198	B4DJ45;Q13148	.;TADBP_HUMAN	Y	198;82;198	ENSP00000240185:C198Y;ENSP00000404666:C82Y;ENSP00000313129:C198Y	ENSP00000240185:C198Y	C	+	2	0	TARDBP	11003122	1.000000	0.71417	0.677000	0.29947	0.972000	0.66771	9.549000	0.98106	2.713000	0.92767	0.655000	0.94253	TGT		0.453	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006063.1	NM_007375		29	104	0	0	0	1	0	29	104				
BACE1	23621	broad.mit.edu	37	11	117186253	117186253	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:117186253T>C	ENST00000313005.6	-	1	719	c.259A>G	c.(259-261)Acg>Gcg	p.T87A	AP000892.4_ENST00000504906.1_RNA|BACE1_ENST00000428381.2_Missense_Mutation_p.T87A|BACE1_ENST00000514464.1_5'UTR|BACE1_ENST00000513780.1_Missense_Mutation_p.T87A|BACE1_ENST00000445823.2_Missense_Mutation_p.T87A|BACE1_ENST00000528053.1_Missense_Mutation_p.T87A	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	87					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		CACCTTACCGTCTGCGGGGGG	0.657																																						ENST00000313005.6																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19						c.(259-261)Acg>Gcg		beta-site APP-cleaving enzyme 1							44.0	41.0	42.0					11																	117186253		2201	4296	6497	SO:0001583	missense	23621				beta-amyloid metabolic process|membrane protein ectodomain proteolysis	cell surface|cytoplasmic vesicle membrane|endoplasmic reticulum|endosome|integral to plasma membrane|trans-Golgi network	aspartic-type endopeptidase activity|beta-aspartyl-peptidase activity|protein binding	g.chr11:117186253T>C	AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.259A>G	11.37:g.117186253T>C	ENSP00000318585:p.Thr87Ala					BACE1_ENST00000428381.2_Missense_Mutation_p.T87A|BACE1_ENST00000528053.1_Missense_Mutation_p.T87A|BACE1_ENST00000513780.1_Missense_Mutation_p.T87A|BACE1_ENST00000445823.2_Missense_Mutation_p.T87A|BACE1_ENST00000514464.1_5'UTR	p.T87A	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236.1|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)	1	719	-	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	87					A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	Missense_Mutation	SNP	ENST00000313005.6	37	c.259A>G	CCDS8383.1	.	.	.	.	.	.	.	.	.	.	T	18.00	3.526384	0.64860	.	.	ENSG00000186318	ENST00000313005;ENST00000528053;ENST00000428381;ENST00000513780;ENST00000445823	T;T;T;T;T	0.57595	0.39;0.39;0.39;0.39;0.39	4.99	4.99	0.66335	Peptidase aspartic (1);Peptidase aspartic, catalytic (1);	0.411467	0.27577	N	0.018758	T	0.50343	0.1610	L	0.39898	1.24	0.80722	D	1	P;B;B;B;B	0.47545	0.897;0.005;0.05;0.181;0.114	P;B;B;B;B	0.49085	0.6;0.013;0.037;0.069;0.053	T	0.41342	-0.9514	10	0.23302	T	0.38	.	12.6208	0.56601	0.0:0.0:0.0:1.0	.	87;87;87;87;87	Q76KP0;P56817;P56817-3;P56817-4;P56817-2	.;BACE1_HUMAN;.;.;.	A	87	ENSP00000318585:T87A;ENSP00000431848:T87A;ENSP00000402228:T87A;ENSP00000424536:T87A;ENSP00000403685:T87A	ENSP00000318585:T87A	T	-	1	0	BACE1	116691463	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.358000	0.66064	1.866000	0.54105	0.533000	0.62120	ACG		0.657	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			6	17	0	0	0	1	0	6	17				
PEX3	8504	broad.mit.edu	37	6	143793343	143793343	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:143793343C>G	ENST00000367591.4	+	8	688	c.625C>G	c.(625-627)Cta>Gta	p.L209V		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	209					peroxisome membrane biogenesis (GO:0016557)|peroxisome organization (GO:0007031)|protein import into peroxisome membrane (GO:0045046)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of peroxisomal membrane (GO:0005779)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|protein complex (GO:0043234)|protein-lipid complex (GO:0032994)	lipid binding (GO:0008289)|protein dimerization activity (GO:0046983)			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GGAGCAAAAACTAAAAGAAAT	0.338																																						ENST00000367591.4																			0				endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18						c.(625-627)Cta>Gta		peroxisomal biogenesis factor 3							83.0	89.0	87.0					6																	143793343		2203	4300	6503	SO:0001583	missense	8504				protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding	g.chr6:143793343C>G	AJ001625	CCDS5199.1	6q24.2	2008-05-15			ENSG00000034693	ENSG00000034693			8858	protein-coding gene	gene with protein product		603164				9657383	Standard	NM_003630		Approved		uc003qjl.3	P56589	OTTHUMG00000015730	ENST00000367591.4:c.625C>G	6.37:g.143793343C>G	ENSP00000356563:p.Leu209Val						p.L209V	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)	8	688	+			209					Q6FGP5	Missense_Mutation	SNP	ENST00000367591.4	37	c.625C>G	CCDS5199.1	.	.	.	.	.	.	.	.	.	.	C	10.40	1.339414	0.24339	.	.	ENSG00000034693	ENST00000344281;ENST00000367592;ENST00000367591	T;T	0.51325	0.71;0.71	5.93	1.95	0.26073	.	0.134404	0.50627	D	0.000118	T	0.12561	0.0305	N	0.19112	0.55	0.54753	D	0.99998	B;B	0.10296	0.002;0.003	B;B	0.17098	0.017;0.003	T	0.05937	-1.0855	10	0.30854	T	0.27	-5.4592	5.5215	0.16936	0.3648:0.453:0.1178:0.0643	.	209;209	B4DV31;P56589	.;PEX3_HUMAN	V	165;165;209	ENSP00000356564:L165V;ENSP00000356563:L209V	ENSP00000344195:L165V	L	+	1	2	PEX3	143835036	0.995000	0.38212	0.993000	0.49108	0.983000	0.72400	0.378000	0.20569	0.403000	0.25479	0.591000	0.81541	CTA		0.338	PEX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042525.1			24	82	0	0	0	1	0	24	82				
MAGEC1	9947	broad.mit.edu	37	X	140994650	140994650	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:140994650C>T	ENST00000285879.4	+	4	1746	c.1460C>T	c.(1459-1461)tCc>tTc	p.S487F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	487										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCTCCTCCTCCTCCACT	0.478										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1459-1461)tCc>tTc		melanoma antigen family C, 1							117.0	129.0	125.0					X																	140994650		2203	4300	6503	SO:0001583	missense	9947						protein binding	g.chrX:140994650C>T	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1460C>T	X.37:g.140994650C>T	ENSP00000285879:p.Ser487Phe	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.S487F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1746	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1460C>T	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	t	0.017	-1.500338	0.01001	.	.	ENSG00000155495	ENST00000285879	T	0.02974	4.09	0.892	-1.78	0.07957	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	0.09310	N	1	P	0.36647	0.563	B	0.26094	0.066	T	0.43814	-0.9368	9	0.87932	D	0	.	3.5228	0.07748	0.0:0.3431:0.0:0.6569	.	487	O60732	MAGC1_HUMAN	F	487	ENSP00000285879:S487F	ENSP00000285879:S487F	S	+	2	0	MAGEC1	140822316	0.000000	0.05858	0.044000	0.18714	0.044000	0.14063	-0.281000	0.08456	-1.344000	0.02216	-1.330000	0.01273	TCC		0.478	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		26	91	0	0	0	1	0	26	91				
MANEAL	149175	broad.mit.edu	37	1	38265656	38265656	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:38265656G>C	ENST00000373045.6	+	4	1536	c.1155G>C	c.(1153-1155)gaG>gaC	p.E385D	MANEAL_ENST00000329006.5_Missense_Mutation_p.E163D|MANEAL_ENST00000525897.1_Missense_Mutation_p.E191D|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000397631.3_3'UTR	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	385						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGTACTATGAGACGGCCCTGC	0.567																																						ENST00000373045.6																			0				endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7						c.(1153-1155)gaG>gaC		mannosidase, endo-alpha-like							77.0	85.0	82.0					1																	38265656		2203	4300	6503	SO:0001583	missense	149175					Golgi membrane|integral to membrane	hydrolase activity	g.chr1:38265656G>C	AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.1155G>C	1.37:g.38265656G>C	ENSP00000362136:p.Glu385Asp					MANEAL_ENST00000397631.3_3'UTR|MANEAL_ENST00000329006.5_Missense_Mutation_p.E163D|MANEAL_ENST00000525897.1_Missense_Mutation_p.E191D|RP11-109P14.9_ENST00000433474.1_RNA	p.E385D	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN			4	1536	+	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	385					Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	c.1155G>C	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.597773	0.46318	.	.	ENSG00000185090	ENST00000373045;ENST00000525897;ENST00000329006	.	.	.	5.62	4.71	0.59529	.	0.000000	0.85682	D	0.000000	T	0.46756	0.1409	L	0.46614	1.455	0.50039	D	0.999846	B;B	0.14438	0.002;0.01	B;B	0.20577	0.006;0.03	T	0.32745	-0.9895	9	0.11485	T	0.65	-26.9717	10.3081	0.43693	0.159:0.0:0.841:0.0	.	163;385	Q5VSG8-2;Q5VSG8	.;MANEL_HUMAN	D	385;191;163	.	ENSP00000328770:E163D	E	+	3	2	MANEAL	38038243	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.515000	0.35845	1.393000	0.46605	0.655000	0.94253	GAG		0.567	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2	NM_152496		24	64	0	0	0	1	0	24	64				
HLA-DQB2	3120	broad.mit.edu	37	6	32725596	32725596	+	Silent	SNP	C	C	G	rs34988824	byFrequency	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:32725596C>G	ENST00000437316.2	-	4	774	c.711G>C	c.(709-711)ctG>ctC	p.L237L	HLA-DQB2_ENST00000411527.1_Intron|HLA-DQB2_ENST00000435145.2_Silent_p.L237L			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	241					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						CGAGGAAGATCAGCCCCAGCA	0.562																																						ENST00000435145.2																			0				endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						c.(709-711)ctG>ctC		major histocompatibility complex, class II, DQ beta 2																																				SO:0001819	synonymous_variant	3120				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	integral to membrane|MHC class II protein complex		g.chr6:32725596C>G	M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.711G>C	6.37:g.32725596C>G						HLA-DQB2_ENST00000437316.2_Silent_p.L237L|HLA-DQB2_ENST00000411527.1_Intron	p.L237L			Q5SR06	Q5SR06_HUMAN			4	772	-			216					A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Silent	SNP	ENST00000437316.2	37	c.711G>C																																																																																					0.562	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000076216.2			5	26	0	0	0	1	0	5	26				
NYNRIN	57523	broad.mit.edu	37	14	24882283	24882283	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:24882283A>T	ENST00000382554.3	+	7	3041	c.2723A>T	c.(2722-2724)aAg>aTg	p.K908M	NYNRIN_ENST00000554505.1_3'UTR	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	908					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AATAGTTCCAAGAAACTGATG	0.522																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(2722-2724)aAg>aTg		NYN domain and retroviral integrase containing							64.0	62.0	63.0					14																	24882283		1989	4175	6164	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24882283A>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2723A>T	14.37:g.24882283A>T	ENSP00000371994:p.Lys908Met					NYNRIN_ENST00000554505.1_3'UTR	p.K908M	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			7	3041	+			908					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.2723A>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	A	18.42	3.619023	0.66787	.	.	ENSG00000205978	ENST00000382554	T	0.48836	0.8	4.9	4.9	0.64082	Ribonuclease Zc3h12a-like (1);	.	.	.	.	T	0.56543	0.1992	L	0.29908	0.895	0.32017	N	0.601305	D	0.76494	0.999	D	0.85130	0.997	T	0.64136	-0.6478	9	0.87932	D	0	.	12.5164	0.56034	1.0:0.0:0.0:0.0	.	908	Q9P2P1	NYNRI_HUMAN	M	908	ENSP00000371994:K908M	ENSP00000371994:K908M	K	+	2	0	NYNRIN	23952123	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.115000	0.64655	2.062000	0.61559	0.383000	0.25322	AAG		0.522	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			6	7	0	0	0	1	0	6	7				
IGHV1-18	28468	broad.mit.edu	37	14	106641758	106641758	+	RNA	SNP	A	A	C	rs367669307		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:106641758A>C	ENST00000390605.2	-	0	214									immunoglobulin heavy variable 1-18																		CCCAGCTGATACCATAGCTGG	0.557																																						ENST00000390605.2																			0																				178.0	164.0	169.0					14																	106641758		1976	4159	6135			28468							g.chr14:106641758A>C	M99641		14q32.33	2012-02-08			ENSG00000211945	ENSG00000211945		"""Immunoglobulins / IGH locus"""	5549	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152276		14.37:g.106641758A>C														0	214	-									RNA	SNP	ENST00000390605.2	37																																																																																						0.557	IGHV1-18-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325664.1	NG_001019		139	202	0	0	0	1	0	139	202				
CDH23	64072	broad.mit.edu	37	10	73406419	73406419	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:73406419G>A	ENST00000461841.3	+	14	1882	c.1629G>A	c.(1627-1629)ccG>ccA	p.P543P	CDH23_ENST00000224721.6_Intron|CDH23_ENST00000299366.7_Intron|CDH23_ENST00000398809.4_Silent_p.P498P|CDH23_ENST00000398842.3_Silent_p.P498P			Q9H251	CAD23_HUMAN	cadherin-related 23	0	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTCCAGGGCCGACTGTGGTGA	0.572																																						ENST00000398809.4																			0				NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						c.(1492-1494)ccG>ccA		cadherin-related 23							77.0	80.0	79.0					10																	73406419		2046	4190	6236	SO:0001819	synonymous_variant	64072				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding	g.chr10:73406419G>A	AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000461841.3:c.1629G>A	10.37:g.73406419G>A						CDH23_ENST00000398842.3_Silent_p.P498P|CDH23_ENST00000461841.3_Silent_p.P543P|CDH23_ENST00000299366.7_Intron|CDH23_ENST00000224721.6_Intron	p.P498P	NM_052836.3	NP_443068.1	Q9H251	CAD23_HUMAN			14	1884	+			0			Cadherin 5.		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Silent	SNP	ENST00000461841.3	37	c.1494G>A																																																																																					0.572	CDH23-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051228.4	NM_052836		41	103	0	0	0	1	0	41	103				
USP12	219333	broad.mit.edu	37	13	27669743	27669743	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr13:27669743C>T	ENST00000282344.6	-	4	824	c.568G>A	c.(568-570)Gaa>Aaa	p.E190K		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	190	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		CTTACAGTTTCACAAGTAAGA	0.308																																					Ovarian(37;808 911 7590 44442 44991)	ENST00000282344.6																			0				breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(568-570)Gaa>Aaa		ubiquitin specific peptidase 12							57.0	55.0	55.0					13																	27669743		2203	4297	6500	SO:0001583	missense	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27669743C>T	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.568G>A	13.37:g.27669743C>T	ENSP00000282344:p.Glu190Lys						p.E190K	NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	4	824	-		Lung SC(185;0.0161)	190					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.568G>A	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	C	35	5.529613	0.96446	.	.	ENSG00000152484	ENST00000282344	T	0.05649	3.41	5.54	5.54	0.83059	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.089045	0.85682	D	0.000000	T	0.25606	0.0623	M	0.66506	2.035	0.80722	D	1	D	0.65815	0.995	D	0.70487	0.969	T	0.00087	-1.2092	10	0.87932	D	0	-26.6157	19.8379	0.96666	0.0:1.0:0.0:0.0	.	190	O75317	UBP12_HUMAN	K	190	ENSP00000282344:E190K	ENSP00000282344:E190K	E	-	1	0	USP12	26567743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.689000	0.84165	2.765000	0.95021	0.655000	0.94253	GAA		0.308	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488		7	58	0	0	0	1	0	7	58				
RNF7	9616	broad.mit.edu	37	3	141457317	141457317	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:141457317T>A	ENST00000273480.3	+	1	272	c.134T>A	c.(133-135)gTg>gAg	p.V45E	RNF7_ENST00000393000.3_Missense_Mutation_p.V45E|RNF7_ENST00000480908.1_Missense_Mutation_p.V45E	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN	ring finger protein 7	45					intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of apoptotic process (GO:0043066)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|response to redox state (GO:0051775)	Cul5-RING ubiquitin ligase complex (GO:0031466)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	copper ion binding (GO:0005507)|NEDD8 ligase activity (GO:0019788)|zinc ion binding (GO:0008270)			kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						AGCTGGGACGTGGAGTGCGAT	0.672											OREG0015854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000273480.3																			0				kidney(1)|lung(3)|upper_aerodigestive_tract(1)	5						c.(133-135)gTg>gAg		ring finger protein 7							52.0	45.0	47.0					3																	141457317		2203	4300	6503	SO:0001583	missense	9616				anti-apoptosis|induction of apoptosis by oxidative stress|protein neddylation|response to redox state	cytoplasm|nucleus	copper ion binding|NEDD8 ligase activity|protein binding|zinc ion binding	g.chr3:141457317T>A	AF092878	CCDS3118.1, CCDS43158.1, CCDS56283.1	3q22-q24	2008-07-18			ENSG00000114125	ENSG00000114125		"""RING-type (C3HC4) zinc fingers"""	10070	protein-coding gene	gene with protein product	"""sensitive to apoptosis, zinc RING finger protein SAG, regulator of cullins 2"""	603863				10082581, 10230407	Standard	NM_014245		Approved	SAG, ROC2, CKBBP1	uc003eud.3	Q9UBF6	OTTHUMG00000141305	ENST00000273480.3:c.134T>A	3.37:g.141457317T>A	ENSP00000273480:p.Val45Glu		OREG0015854	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1664	RNF7_ENST00000393000.3_Missense_Mutation_p.V45E|RNF7_ENST00000480908.1_Missense_Mutation_p.V45E	p.V45E	NM_014245.4|NM_183237.2	NP_055060.1|NP_899060.1	Q9UBF6	RBX2_HUMAN			1	272	+			45					A8K1H9|A8MTB5|C9JYL3|D3DNF7|D3DNF8|Q9BXN8|Q9Y5M7	Missense_Mutation	SNP	ENST00000273480.3	37	c.134T>A	CCDS3118.1	.	.	.	.	.	.	.	.	.	.	T	17.81	3.481611	0.63849	.	.	ENSG00000114125	ENST00000273480;ENST00000480908;ENST00000393000	T;T	0.47177	0.86;0.85	5.23	4.05	0.47172	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-H2-type (1);	0.229128	0.44483	D	0.000447	T	0.66733	0.2819	M	0.74467	2.265	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.69221	-0.5202	10	0.87932	D	0	.	11.9414	0.52903	0.0:0.0:0.1458:0.8542	.	45;45	Q9UBF6;Q9UBF6-3	RBX2_HUMAN;.	E	45	ENSP00000273480:V45E;ENSP00000419084:V45E	ENSP00000273480:V45E	V	+	2	0	RNF7	142940007	1.000000	0.71417	0.996000	0.52242	0.191000	0.23601	6.925000	0.75829	0.818000	0.34468	-0.316000	0.08728	GTG		0.672	RNF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280602.1	NM_014245		3	29	0	0	0	1	0	3	29				
SPTAN1	6709	broad.mit.edu	37	9	131394416	131394416	+	Missense_Mutation	SNP	A	A	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:131394416A>T	ENST00000372731.4	+	52	6868	c.6758A>T	c.(6757-6759)cAg>cTg	p.Q2253L	WDR34_ENST00000483181.1_5'Flank|SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q2258L|SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q2258L	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	2253					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CGCAAGCACCAGGAAATCCGA	0.617																																					NSCLC(120;833 1744 2558 35612 37579)	ENST00000358161.5																			0				NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						c.(6772-6774)cAg>cTg		spectrin, alpha, non-erythrocytic 1							27.0	27.0	27.0					9																	131394416		2203	4300	6503	SO:0001583	missense	6709				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	g.chr9:131394416A>T	M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.6758A>T	9.37:g.131394416A>T	ENSP00000361816:p.Gln2253Leu					SPTAN1_ENST00000372739.3_Missense_Mutation_p.Q2258L|SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q2253L	p.Q2258L			Q13813	SPTA2_HUMAN			52	6886	+			2253					Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	ENST00000372731.4	37	c.6773A>T	CCDS6905.1	.	.	.	.	.	.	.	.	.	.	A	19.64	3.864872	0.71949	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.51325	0.71;0.71;0.71	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.56834	0.2012	L	0.35854	1.095	0.80722	D	1	B;P;B	0.48294	0.376;0.908;0.232	B;P;B	0.61397	0.08;0.888;0.145	T	0.55477	-0.8135	10	0.41790	T	0.15	.	15.3351	0.74247	1.0:0.0:0.0:0.0	.	2233;2258;2253	Q13813-3;Q13813-2;Q13813	.;.;SPTA2_HUMAN	L	2258;2253;2258;2233	ENSP00000350882:Q2258L;ENSP00000361816:Q2253L;ENSP00000361824:Q2258L	ENSP00000350882:Q2258L	Q	+	2	0	SPTAN1	130434237	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.951000	0.93025	2.021000	0.59480	0.459000	0.35465	CAG		0.617	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127		4	16	0	0	0	1	0	4	16				
GABRA1	2554	broad.mit.edu	37	5	161309610	161309610	+	Silent	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:161309610A>G	ENST00000428797.2	+	8	961	c.606A>G	c.(604-606)ccA>ccG	p.P202P	GABRA1_ENST00000393943.4_Silent_p.P202P|GABRA1_ENST00000420560.1_Silent_p.P202P|GABRA1_ENST00000023897.6_Silent_p.P202P|GABRA1_ENST00000437025.2_Silent_p.P202P|GABRA1_ENST00000444819.1_Silent_p.P202P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	202					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|drug binding (GO:0008144)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zaleplon(DB00962)|Zolpidem(DB00425)|Zopiclone(DB01198)	CCAGAGAGCCAGCACGCTCAG	0.398																																						ENST00000428797.2																			0				NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42						c.(604-606)ccA>ccG		gamma-aminobutyric acid (GABA) A receptor, alpha 1	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)						146.0	131.0	136.0					5																	161309610		2203	4300	6503	SO:0001819	synonymous_variant	2554				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr5:161309610A>G		CCDS4357.1	5q34	2012-06-22			ENSG00000022355	ENSG00000022355		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4075	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 1"""	137160				1330891	Standard	NM_000806		Approved	EJM5	uc003lyx.4	P14867	OTTHUMG00000163586	ENST00000428797.2:c.606A>G	5.37:g.161309610A>G						GABRA1_ENST00000437025.2_Silent_p.P202P|GABRA1_ENST00000393943.4_Silent_p.P202P|GABRA1_ENST00000444819.1_Silent_p.P202P|GABRA1_ENST00000023897.6_Silent_p.P202P|GABRA1_ENST00000420560.1_Silent_p.P202P	p.P202P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	8	961	+	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	202					D3DQK6|Q8N629	Silent	SNP	ENST00000428797.2	37	c.606A>G	CCDS4357.1																																																																																				0.398	GABRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252702.2	NM_000806.5		23	60	0	0	0	1	0	23	60				
ZNF432	9668	broad.mit.edu	37	19	52538076	52538076	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:52538076C>T	ENST00000594154.1	-	5	1068	c.856G>A	c.(856-858)Gag>Aag	p.E286K	ZNF432_ENST00000221315.5_Missense_Mutation_p.E286K			O94892	ZN432_HUMAN	zinc finger protein 432	286					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TAGGGTTTCTCTCCAGTATGA	0.383																																						ENST00000594154.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29						c.(856-858)Gag>Aag		zinc finger protein 432							94.0	95.0	94.0					19																	52538076		2203	4300	6503	SO:0001583	missense	9668				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52538076C>T	AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.856G>A	19.37:g.52538076C>T	ENSP00000470488:p.Glu286Lys					ZNF432_ENST00000221315.5_Missense_Mutation_p.E286K	p.E286K			O94892	ZN432_HUMAN		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)	5	1068	-		all_neural(266;0.117)	286						Missense_Mutation	SNP	ENST00000594154.1	37	c.856G>A	CCDS12848.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394395	0.83011	.	.	ENSG00000256087	ENST00000221315	T	0.24350	1.86	2.9	2.9	0.33743	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.34250	0.0891	N	0.20530	0.585	0.32795	N	0.500648	D	0.67145	0.996	D	0.75484	0.986	T	0.48490	-0.9031	9	0.66056	D	0.02	.	12.9715	0.58515	0.0:1.0:0.0:0.0	.	286	O94892	ZN432_HUMAN	K	286	ENSP00000221315:E286K	ENSP00000221315:E286K	E	-	1	0	ZNF432	57229888	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.759000	0.62227	1.630000	0.50440	0.585000	0.79938	GAG		0.383	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462410.1	NM_014650		44	212	0	0	0	1	0	44	212				
NFKBIL1	4795	broad.mit.edu	37	6	31525422	31525422	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:31525422C>T	ENST00000376148.4	+	3	466	c.352C>T	c.(352-354)Ctc>Ttc	p.L118F	NFKBIL1_ENST00000376145.4_Missense_Mutation_p.L118F	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1	118					cellular response to lipopolysaccharide (GO:0071222)|cytoplasmic sequestering of transcription factor (GO:0042994)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)	cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CGATTTCTTCCTCCCGCTGCT	0.587																																						ENST00000376148.4																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						c.(352-354)Ctc>Ttc		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1							50.0	48.0	49.0					6																	31525422		2203	4300	6503	SO:0001583	missense	4795				cytoplasmic sequestering of transcription factor		protein binding	g.chr6:31525422C>T	X77909	CCDS4700.1, CCDS47399.1, CCDS47400.1	6p21.3	2010-02-17			ENSG00000204498	ENSG00000204498			7800	protein-coding gene	gene with protein product		601022		NFKBIL		8081366	Standard	NM_005007		Approved	IKBL	uc003nub.3	Q9UBC1	OTTHUMG00000031038	ENST00000376148.4:c.352C>T	6.37:g.31525422C>T	ENSP00000365318:p.Leu118Phe					NFKBIL1_ENST00000376145.4_Missense_Mutation_p.L118F	p.L118F	NM_005007.3	NP_004998.3	Q9UBC1	IKBL1_HUMAN			3	466	+			118					A6NL91|B4DUW1|Q14625|Q5HYU4|Q5RJ72|Q5ST96|Q5STV4|Q5STV5|Q9UBX4	Missense_Mutation	SNP	ENST00000376148.4	37	c.352C>T	CCDS4700.1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202279	0.58234	.	.	ENSG00000204498	ENST00000376146;ENST00000542852;ENST00000376148;ENST00000376145	T;T;T	0.68025	-0.3;-0.3;-0.3	5.94	3.13	0.36017	Ankyrin repeat-containing domain (3);	0.068895	0.56097	D	0.000030	T	0.66607	0.2806	M	0.66939	2.045	0.36531	D	0.870718	D;D;D	0.76494	0.999;0.992;0.992	D;D;D	0.79784	0.993;0.913;0.913	T	0.67110	-0.5753	10	0.40728	T	0.16	-2.722	6.4196	0.21736	0.0:0.6887:0.1488:0.1625	.	95;118;118	Q5STV6;Q5STV4;Q9UBC1	.;.;IKBL1_HUMAN	F	95;95;118;118	ENSP00000365316:L95F;ENSP00000365318:L118F;ENSP00000365315:L118F	ENSP00000365315:L118F	L	+	1	0	NFKBIL1	31633401	0.999000	0.42202	1.000000	0.80357	0.968000	0.65278	0.273000	0.18662	0.855000	0.35359	0.591000	0.81541	CTC		0.587	NFKBIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076036.3	NM_005007		9	29	0	0	0	1	0	9	29				
B3GALT5	10317	broad.mit.edu	37	21	41033143	41033143	+	Silent	SNP	C	C	T	rs529977380		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr21:41033143C>T	ENST00000380620.4	+	5	1249	c.657C>T	c.(655-657)taC>taT	p.Y219Y	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Silent_p.Y219Y|B3GALT5_ENST00000380618.1_Silent_p.Y219Y|B3GALT5_ENST00000343118.4_Silent_p.Y219Y			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5	219					protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GCACCGGCTACGTGTTTTCTG	0.522													C|||	1	0.000199681	0.0	0.0	5008	,	,		16696	0.001		0.0	False		,,,				2504	0.0					ENST00000380620.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16						c.(655-657)taC>taT		UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5							80.0	79.0	79.0					21																	41033143		2203	4300	6503	SO:0001819	synonymous_variant	10317				protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity	g.chr21:41033143C>T	AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.657C>T	21.37:g.41033143C>T						B3GALT5_ENST00000398714.2_Silent_p.Y219Y|B3GALT5_ENST00000380618.1_Silent_p.Y219Y|B3GALT5_ENST00000343118.4_Silent_p.Y219Y|AF064860.5_ENST00000416555.1_RNA	p.Y219Y			Q9Y2C3	B3GT5_HUMAN			5	1249	+		Prostate(19;2.55e-06)	219					A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	Silent	SNP	ENST00000380620.4	37	c.657C>T	CCDS13667.1																																																																																				0.522	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195008.2	NM_033170		8	110	0	0	0	1	0	8	110				
SMAD4	4089	broad.mit.edu	37	18	48591933	48591933	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr18:48591933C>A	ENST00000342988.3	+	9	1634	c.1096C>A	c.(1096-1098)Caa>Aaa	p.Q366K	SMAD4_ENST00000398417.2_Missense_Mutation_p.Q366K|SMAD4_ENST00000588745.1_Missense_Mutation_p.Q270K	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	366	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.Q366*(3)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TTGTTTGGGTCAACTCTCCAA	0.413																																						ENST00000342988.3																			41	Whole gene deletion(36)|Substitution - Nonsense(3)|Unknown(2)	p.0?(36)|p.Q366*(3)|p.?(2)	pancreas(28)|large_intestine(4)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454						c.(1096-1098)Caa>Aaa		SMAD family member 4							144.0	119.0	127.0					18																	48591933		2203	4300	6503	SO:0001583	missense	4089				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	g.chr18:48591933C>A	U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1096C>A	18.37:g.48591933C>A	ENSP00000341551:p.Gln366Lys					SMAD4_ENST00000398417.2_Missense_Mutation_p.Q366K|SMAD4_ENST00000588745.1_Missense_Mutation_p.Q270K	p.Q366K	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)	9	1634	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	366			MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1096C>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746236	0.69418	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98822	-5.16;-5.16	5.86	5.86	0.93980	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.000000	0.85682	D	0.000000	D	0.99165	0.9711	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.99568	1.0970	10	0.46703	T	0.11	.	18.9646	0.92691	0.0:1.0:0.0:0.0	.	366	Q13485	SMAD4_HUMAN	K	366	ENSP00000341551:Q366K;ENSP00000381452:Q366K	ENSP00000341551:Q366K	Q	+	1	0	SMAD4	46845931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.672000	0.83956	2.771000	0.95319	0.563000	0.77884	CAA		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		24	40	1	0	1.85244e-09	1	1.95312e-09	24	40				
CHD6	84181	broad.mit.edu	37	20	40141541	40141541	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr20:40141541G>C	ENST00000373233.3	-	5	973	c.796C>G	c.(796-798)Ctt>Gtt	p.L266V	CHD6_ENST00000309279.7_Missense_Mutation_p.L266V|CHD6_ENST00000373222.3_Missense_Mutation_p.L301V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	266	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CCAGCTCCAAGAACAGCAATT	0.517																																						ENST00000373233.3																			0				breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129						c.(796-798)Ctt>Gtt		chromodomain helicase DNA binding protein 6							432.0	359.0	384.0					20																	40141541		2203	4300	6503	SO:0001583	missense	84181				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding	g.chr20:40141541G>C	AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.796C>G	20.37:g.40141541G>C	ENSP00000362330:p.Leu266Val					CHD6_ENST00000373222.3_Missense_Mutation_p.L301V|CHD6_ENST00000309279.7_Missense_Mutation_p.L266V	p.L266V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN			5	973	-		Myeloproliferative disorder(115;0.00425)	266					Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	ENST00000373233.3	37	c.796C>G	CCDS13317.1	.	.	.	.	.	.	.	.	.	.	G	13.86	2.364169	0.41902	.	.	ENSG00000124177	ENST00000373233;ENST00000309279;ENST00000373222	T;T;T	0.56444	0.46;0.46;0.46	5.47	5.47	0.80525	.	0.000000	0.52532	D	0.000080	T	0.62804	0.2458	L	0.44542	1.39	0.44798	D	0.997805	D;B	0.76494	0.999;0.057	D;B	0.87578	0.998;0.05	T	0.57688	-0.7768	10	0.29301	T	0.29	-12.3731	12.6567	0.56791	0.0757:0.0:0.9243:0.0	.	301;266	Q8TD26-2;Q8TD26	.;CHD6_HUMAN	V	266;266;301	ENSP00000362330:L266V;ENSP00000308684:L266V;ENSP00000362319:L301V	ENSP00000308684:L266V	L	-	1	0	CHD6	39574955	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.048000	0.71046	2.578000	0.87016	0.655000	0.94253	CTT		0.517	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1			84	250	0	0	0	1	0	84	250				
ZNF223	7766	broad.mit.edu	37	19	44559294	44559294	+	5'UTR	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:44559294T>C	ENST00000434772.3	+	0	220				ZNF223_ENST00000591793.1_Missense_Mutation_p.S99P|ZNF223_ENST00000588518.1_3'UTR|ZNF223_ENST00000585552.1_5'UTR	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				ACTGTGTCATTCAGGACTCTG	0.453																																						ENST00000591793.1																			0				endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						c.(295-297)Tca>Cca		zinc finger protein 223							125.0	104.0	111.0					19																	44559294		2203	4300	6503	SO:0001623	5_prime_UTR_variant	7766				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44559294T>C	AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.-36T>C	19.37:g.44559294T>C						ZNF223_ENST00000585552.1_5'UTR|ZNF223_ENST00000434772.3_5'UTR|ZNF223_ENST00000588518.1_3'UTR	p.S99P			Q9UK11	ZN223_HUMAN			4	378	+		Prostate(69;0.0352)	84					Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	ENST00000434772.3	37	c.295T>C	CCDS12635.1																																																																																				0.453	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460469.2			24	61	0	0	0	1	0	24	61				
LPXN	9404	broad.mit.edu	37	11	58317454	58317454	+	Missense_Mutation	SNP	T	T	C	rs140764119	byFrequency	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:58317454T>C	ENST00000395074.2	-	6	740	c.652A>G	c.(652-654)Atc>Gtc	p.I218V	LPXN_ENST00000528489.1_Missense_Mutation_p.I198V|LPXN_ENST00000528954.1_Missense_Mutation_p.I223V	NM_004811.2	NP_004802.1	O60711	LPXN_HUMAN	leupaxin	218	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell adhesion (GO:0007155)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of cell adhesion (GO:0007162)|protein complex assembly (GO:0006461)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|podosome (GO:0002102)	transcription cofactor activity (GO:0003712)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ACATCCAGGATGGGAGCAGCG	0.493													T|||	2	0.000399361	0.0	0.0029	5008	,	,		21684	0.0		0.0	False		,,,				2504	0.0					ENST00000528954.1																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(667-669)Atc>Gtc		leupaxin		T	VAL/ILE,VAL/ILE	0,4402		0,0,2201	96.0	93.0	94.0		667,652	5.9	1.0	11	dbSNP_134	94	6,8584	5.0+/-18.6	0,6,4289	yes	missense,missense	LPXN	NM_001143995.1,NM_004811.2	29,29	0,6,6490	CC,CT,TT		0.0698,0.0,0.0462	probably-damaging,probably-damaging	223/392,218/387	58317454	6,12986	2201	4295	6496	SO:0001583	missense	9404				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding	g.chr11:58317454T>C	AF062075	CCDS7969.1, CCDS53635.1	11q12.1	2013-09-20			ENSG00000110031	ENSG00000110031			14061	protein-coding gene	gene with protein product		605390				9565592	Standard	NM_004811		Approved	LDPL	uc001nmw.3	O60711	OTTHUMG00000167466	ENST00000395074.2:c.652A>G	11.37:g.58317454T>C	ENSP00000378512:p.Ile218Val					LPXN_ENST00000528489.1_Missense_Mutation_p.I198V|LPXN_ENST00000395074.2_Missense_Mutation_p.I218V	p.I223V	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN			6	786	-		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	218			LIM zinc-binding 2.		B2R8B4|B4DV71|Q53FW6|Q6FI07	Missense_Mutation	SNP	ENST00000395074.2	37	c.667A>G	CCDS7969.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	T	27.6	4.848519	0.91277	0.0	6.98E-4	ENSG00000110031	ENST00000528954;ENST00000395074	D;D	0.90133	-2.62;-2.62	5.95	5.95	0.96441	Zinc finger, LIM-type (5);	0.000000	0.85682	D	0.000000	D	0.93592	0.7954	L	0.52759	1.655	0.80722	D	1	D;D;D	0.76494	0.987;0.997;0.999	P;D;D	0.80764	0.889;0.994;0.989	D	0.93633	0.6958	10	0.52906	T	0.07	.	15.4063	0.74881	0.0:0.0:0.0:1.0	.	198;223;218	B7Z5P7;B4DV71;O60711	.;.;LPXN_HUMAN	V	223;218	ENSP00000431284:I223V;ENSP00000378512:I218V	ENSP00000378512:I218V	I	-	1	0	LPXN	58074030	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.659000	0.83766	2.279000	0.76181	0.533000	0.62120	ATC		0.493	LPXN-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000394709.1	NM_004811		28	82	0	0	0	1	0	28	82				
ZNF337	26152	broad.mit.edu	37	20	25666272	25666272	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr20:25666272T>A	ENST00000376436.1	-	3	720	c.181A>T	c.(181-183)Atc>Ttc	p.I61F	ZNF337_ENST00000481610.1_5'UTR|ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000252979.5_Missense_Mutation_p.I61F			Q9Y3M9	ZN337_HUMAN	zinc finger protein 337	61	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCCGCCTGATGAGTTCTGGT	0.577																																						ENST00000376436.1																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(181-183)Atc>Ttc		zinc finger protein 337							125.0	127.0	127.0					20																	25666272		2203	4300	6503	SO:0001583	missense	26152							g.chr20:25666272T>A		CCDS13174.1	20p11.1	2013-09-20			ENSG00000130684	ENSG00000130684		"""Zinc fingers, C2H2-type"", ""-"""	15809	protein-coding gene	gene with protein product							Standard	XM_005260702		Approved	dJ694B14.1	uc002wuz.3	Q9Y3M9	OTTHUMG00000032131	ENST00000376436.1:c.181A>T	20.37:g.25666272T>A	ENSP00000365619:p.Ile61Phe					ZNF337_ENST00000538750.1_Intron|ZNF337_ENST00000252979.5_Missense_Mutation_p.I61F|ZNF337_ENST00000481610.1_5'UTR	p.I61F							3	720	-								B4DSM2|Q9Y3Y5	Missense_Mutation	SNP	ENST00000376436.1	37	c.181A>T	CCDS13174.1	.	.	.	.	.	.	.	.	.	.	.	13.93	2.384401	0.42308	.	.	ENSG00000130684	ENST00000376436;ENST00000252979;ENST00000376412	T;T	0.00922	5.54;5.54	1.85	1.85	0.25348	Krueppel-associated box (3);	.	.	.	.	T	0.01222	0.0040	M	0.74258	2.255	0.18873	N	0.999987	D	0.54964	0.969	B	0.38194	0.267	T	0.49688	-0.8913	9	0.33940	T	0.23	.	3.4558	0.07515	0.0:0.2166:0.0:0.7834	.	61	Q9Y3M9	ZN337_HUMAN	F	61	ENSP00000365619:I61F;ENSP00000252979:I61F	ENSP00000252979:I61F	I	-	1	0	ZNF337	25614272	0.023000	0.18921	0.272000	0.24630	0.770000	0.43624	0.415000	0.21181	0.708000	0.31955	0.378000	0.23410	ATC		0.577	ZNF337-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078454.1			27	108	0	0	0	1	0	27	108				
STXBP4	252983	broad.mit.edu	37	17	53237245	53237245	+	Silent	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:53237245T>C	ENST00000376352.2	+	18	1842	c.1635T>C	c.(1633-1635)tcT>tcC	p.S545S	STXBP4_ENST00000434978.2_Silent_p.S523S	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	545					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AGGATTGCTCTAGAGAACTCC	0.443																																						ENST00000376352.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1633-1635)tcT>tcC		syntaxin binding protein 4							101.0	82.0	88.0					17																	53237245		2203	4300	6503	SO:0001819	synonymous_variant	252983					cytoplasm	calcium ion binding	g.chr17:53237245T>C	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1635T>C	17.37:g.53237245T>C						STXBP4_ENST00000434978.2_Silent_p.S523S	p.S545S	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN			18	1842	+			545					Q8IVZ5	Silent	SNP	ENST00000376352.2	37	c.1635T>C	CCDS11584.2																																																																																				0.443	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		30	49	0	0	0	1	0	30	49				
PCNXL3	399909	broad.mit.edu	37	11	65385113	65385113	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:65385113C>T	ENST00000355703.3	+	5	1052	c.513C>T	c.(511-513)agC>agT	p.S171S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	171						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						AGCAGGGCAGCAACAATGTGA	0.617																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(511-513)agC>agT		pecanex-like 3 (Drosophila)							42.0	45.0	44.0					11																	65385113		2157	4260	6417	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65385113C>T	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.513C>T	11.37:g.65385113C>T							p.S171S	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			5	1052	+			171					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.513C>T	CCDS44650.1																																																																																				0.617	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		10	20	0	0	0	1	0	10	20				
MDFI	4188	broad.mit.edu	37	6	41621152	41621152	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:41621152T>A	ENST00000373050.4	+	4	584	c.397T>A	c.(397-399)Tcg>Acg	p.S133T				Q99750	MDFI_HUMAN	MyoD family inhibitor	194					activation of JUN kinase activity (GO:0007257)|cytoplasmic sequestering of transcription factor (GO:0042994)|dorsal/ventral axis specification (GO:0009950)|embryo development (GO:0009790)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CTCCTGCAGCTCGGAGGACTC	0.647																																						ENST00000373050.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8						c.(397-399)Tcg>Acg		MyoD family inhibitor							98.0	76.0	83.0					6																	41621152		2203	4300	6503	SO:0001583	missense	4188				cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus		g.chr6:41621152T>A	U78313	CCDS4857.1, CCDS75451.1	6p21	2008-08-29			ENSG00000112559	ENSG00000112559			6967	protein-coding gene	gene with protein product	"""inhibitor of MyoD family a"""	604971				9250874, 17289077	Standard	NM_005586		Approved	I-mfa	uc003oqq.4	Q99750	OTTHUMG00000014681	ENST00000373050.4:c.397T>A	6.37:g.41621152T>A	ENSP00000362141:p.Ser133Thr						p.S133T			Q99750	MDFI_HUMAN	Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)		4	584	+	Ovarian(28;0.0327)|Colorectal(47;0.121)		194						Missense_Mutation	SNP	ENST00000373050.4	37	c.397T>A		.	.	.	.	.	.	.	.	.	.	T	20.5	3.999004	0.74818	.	.	ENSG00000112559	ENST00000432027;ENST00000419164;ENST00000373051;ENST00000230321;ENST00000543326;ENST00000373050;ENST00000435476	.	.	.	5.1	5.1	0.69264	.	0.500833	0.20125	N	0.098719	T	0.61664	0.2365	M	0.76574	2.34	0.31801	N	0.628376	D	0.71674	0.998	D	0.63488	0.915	T	0.65965	-0.6040	9	0.62326	D	0.03	-0.3911	14.5695	0.68202	0.0:0.0:0.0:1.0	.	194	Q99750	MDFI_HUMAN	T	194;194;194;194;194;133;133	.	ENSP00000230321:S194T	S	+	1	0	MDFI	41729130	1.000000	0.71417	0.997000	0.53966	0.835000	0.47333	6.343000	0.72986	1.922000	0.55676	0.454000	0.30748	TCG		0.647	MDFI-002	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000040519.2	NM_005586		24	109	0	0	0	1	0	24	109				
GABRG2	2566	broad.mit.edu	37	5	161524737	161524737	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:161524737A>G	ENST00000361925.4	+	4	641	c.421A>G	c.(421-423)Atg>Gtg	p.M141V	GABRG2_ENST00000393933.4_Missense_Mutation_p.M46V|GABRG2_ENST00000414552.2_Missense_Mutation_p.M141V|GABRG2_ENST00000356592.3_Missense_Mutation_p.M141V			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	141					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GAACAGCAACATGGTGGGGAA	0.403																																						ENST00000356592.3																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62						c.(421-423)Atg>Gtg		gamma-aminobutyric acid (GABA) A receptor, gamma 2							96.0	97.0	97.0					5																	161524737		2203	4300	6503	SO:0001583	missense	2566				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chr5:161524737A>G		CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.421A>G	5.37:g.161524737A>G	ENSP00000354651:p.Met141Val					GABRG2_ENST00000414552.2_Missense_Mutation_p.M141V|GABRG2_ENST00000361925.4_Missense_Mutation_p.M141V|GABRG2_ENST00000393933.4_Missense_Mutation_p.M46V	p.M141V	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	4	881	+	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	141					F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	c.421A>G	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	A	15.74	2.921833	0.52653	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	T	0.73305	0.3570	L	0.41079	1.255	0.80722	D	1	B;B;B	0.25809	0.135;0.01;0.015	B;B;B	0.30855	0.121;0.054;0.047	T	0.70364	-0.4892	10	0.45353	T	0.12	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	141;141;141	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	V	141;141;141;46;46	ENSP00000349000:M141V;ENSP00000410732:M141V;ENSP00000354651:M141V;ENSP00000377510:M46V;ENSP00000430182:M46V	ENSP00000349000:M141V	M	+	1	0	GABRG2	161457315	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.168000	0.94781	2.225000	0.72522	0.460000	0.39030	ATG		0.403	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1			32	83	0	0	0	1	0	32	83				
VPS4A	27183	broad.mit.edu	37	16	69350018	69350018	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:69350018C>T	ENST00000254950.11	+	2	285	c.129C>T	c.(127-129)atC>atT	p.I43I	RP11-343C2.11_ENST00000570054.2_Silent_p.I67I	NM_013245.2	NP_037377.1			vacuolar protein sorting 4 homolog A (S. cerevisiae)											NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				TCCACGCTATCAAGTGTGAGT	0.622																																						ENST00000254950.11																			0				NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7						c.(127-129)atC>atT		vacuolar protein sorting 4 homolog A (S. cerevisiae)							52.0	58.0	56.0					16																	69350018		2070	4206	6276	SO:0001819	synonymous_variant	27183				cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding	g.chr16:69350018C>T	AF112215	CCDS45517.1	16q23.1	2010-04-21	2006-04-04		ENSG00000132612	ENSG00000132612		"""ATPases / AAA-type"""	13488	protein-coding gene	gene with protein product		609982	"""vacuolar protein sorting 4A (yeast homolog)"", ""vacuolar protein sorting 4A (yeast)"""			10637304, 11563910	Standard	NM_013245		Approved	VPS4, VPS4-1, FLJ22197, SKD2, SKD1, SKD1A	uc002eww.3	Q9UN37		ENST00000254950.11:c.129C>T	16.37:g.69350018C>T						RP11-343C2.3_ENST00000570054.2_Silent_p.I67I|VPS4A_ENST00000569775.1_3'UTR	p.I43I	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN			2	285	+		Ovarian(137;0.101)	43			Interaction with CHMP1B.|MIT.			Silent	SNP	ENST00000254950.11	37	c.129C>T	CCDS45517.1																																																																																				0.622	VPS4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430563.3	NM_013245		16	58	0	0	0	1	0	16	58				
EPHA3	2042	broad.mit.edu	37	3	89457269	89457269	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:89457269G>T	ENST00000336596.2	+	9	1975	c.1750G>T	c.(1750-1752)Ggc>Tgc	p.G584C	EPHA3_ENST00000494014.1_Missense_Mutation_p.G584C	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	584					cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)	p.G584S(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACTTCATTTTGGCAATGGGCA	0.358										TSP Lung(6;0.00050)																												ENST00000336596.2																			1	Substitution - Missense(1)	p.G584S(1)	upper_aerodigestive_tract(1)	NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139						c.(1750-1752)Ggc>Tgc		EPH receptor A3							238.0	230.0	233.0					3																	89457269		2203	4300	6503	SO:0001583	missense	2042					extracellular region|integral to plasma membrane	ATP binding	g.chr3:89457269G>T	M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1750G>T	3.37:g.89457269G>T	ENSP00000337451:p.Gly584Cys	TSP Lung(6;0.00050)				EPHA3_ENST00000494014.1_Missense_Mutation_p.G584C	p.G584C	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)	9	1975	+	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)	584					Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	c.1750G>T	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	G	16.68	3.190495	0.58017	.	.	ENSG00000044524	ENST00000336596;ENST00000494014	T;T	0.10763	2.84;2.84	5.97	5.97	0.96955	.	0.000000	0.85682	D	0.000000	T	0.15998	0.0385	L	0.47716	1.5	0.80722	D	1	P	0.45348	0.856	B	0.43360	0.417	T	0.00641	-1.1631	9	.	.	.	.	20.4324	0.99085	0.0:0.0:1.0:0.0	.	584	P29320	EPHA3_HUMAN	C	584	ENSP00000337451:G584C;ENSP00000419190:G584C	.	G	+	1	0	EPHA3	89539959	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	9.230000	0.95299	2.833000	0.97629	0.585000	0.79938	GGC		0.358	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233		34	166	1	0	1.836e-18	1	2.00104e-18	34	166				
TUBB8P7	197331	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	byFrequency	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:90161578G>A	ENST00000564451.1	+	0	931				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587													.|||	668	0.133387	0.0386	0.1499	5008	,	,		18807	0.4087		0.0537	False		,,,				2504	0.0481					ENST00000564451.1																			3	Substitution - Missense(3)	p.R105H(3)	urinary_tract(1)|prostate(1)|kidney(1)																																																197331							g.chr16:90161578G>A			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161578G>A						TUBB8P7_ENST00000567960.1_RNA								0	931	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.587	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		7	51	0	0	0	1	0	7	51				
GPER1	2852	broad.mit.edu	37	7	1131854	1131854	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:1131854C>T	ENST00000297469.3	+	2	1181	c.490C>T	c.(490-492)Cgc>Tgc	p.R164C	GPER1_ENST00000401670.1_Missense_Mutation_p.R164C|GPER1_ENST00000397088.3_Missense_Mutation_p.R164C|GPER1_ENST00000397092.1_Missense_Mutation_p.R164C|C7orf50_ENST00000488073.1_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000397100.2_Intron	NM_001505.2	NP_001496.1	Q99527	GPER1_HUMAN	G protein-coupled estrogen receptor 1	164					apoptotic chromosome condensation (GO:0030263)|cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to glucose stimulus (GO:0071333)|cellular response to mineralocorticoid stimulus (GO:0071389)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytosolic calcium ion homeostasis (GO:0051480)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA metabolic process (GO:0051053)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gene expression (GO:0010629)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte activation (GO:0002695)|negative regulation of lipid biosynthetic process (GO:0051055)|neuronal action potential (GO:0019228)|nuclear fragmentation involved in apoptotic nuclear change (GO:0030264)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of gene expression (GO:0010628)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of insulin secretion (GO:0032024)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neurotransmitter secretion (GO:0001956)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vasodilation (GO:0045909)|steroid hormone mediated signaling pathway (GO:0043401)	axon (GO:0030424)|axon terminus (GO:0043679)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|dendritic spine head (GO:0044327)|dendritic spine membrane (GO:0032591)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|keratin filament (GO:0045095)|mitochondrial membrane (GO:0031966)|neuronal postsynaptic density (GO:0097481)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	chromatin binding (GO:0003682)|estrogen receptor activity (GO:0030284)|G-protein coupled receptor activity (GO:0004930)|mineralocorticoid receptor activity (GO:0017082)|steroid binding (GO:0005496)										CAGGGCCATGCGCTGCAGCCT	0.627																																						ENST00000397092.1																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	13						c.(490-492)Cgc>Tgc									87.0	67.0	74.0					7																	1131854		2203	4300	6503	SO:0001583	missense	2852					endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane	G-protein coupled receptor activity	g.chr7:1131854C>T	U63917	CCDS5322.1	7p22	2013-08-14	2007-07-03	2013-08-14	ENSG00000164850	ENSG00000164850			4485	protein-coding gene	gene with protein product		601805	"""G protein-coupled receptor 30"""	CMKRL2, GPR30, GPER		9479505, 17655271	Standard	NM_001098201		Approved	FEG-1, GPCR-Br, LERGU, LERGU2, DRY12, LyGPR, CEPR	uc003skb.2	Q99527	OTTHUMG00000023680	ENST00000297469.3:c.490C>T	7.37:g.1131854C>T	ENSP00000297469:p.Arg164Cys					GPER_ENST00000397088.3_Missense_Mutation_p.R164C|C7orf50_ENST00000397100.2_Intron|C7orf50_ENST00000397098.3_Intron|C7orf50_ENST00000357429.6_Intron|C7orf50_ENST00000488073.1_Intron|GPER_ENST00000401670.1_Missense_Mutation_p.R164C|GPER_ENST00000297469.3_Missense_Mutation_p.R164C	p.R164C	NM_001039966.1	NP_001035055.1	Q99527	GPER_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;2.32e-16)	3	1374	+		Ovarian(82;0.0253)	164					A8K6C5|B5BUJ1|O00143|O43494|Q13631|Q6FHL1|Q96F42|Q99981	Missense_Mutation	SNP	ENST00000297469.3	37	c.490C>T	CCDS5322.1	.	.	.	.	.	.	.	.	.	.	C	13.76	2.332437	0.41297	.	.	ENSG00000164850	ENST00000401670;ENST00000397092;ENST00000297469;ENST00000397088;ENST00000508834	T;T;T;T	0.43294	0.95;0.95;0.95;0.95	5.26	4.32	0.51571	GPCR, rhodopsin-like superfamily (1);	0.220906	0.45361	D	0.000379	T	0.56920	0.2018	M	0.65320	2	0.47862	D	0.999535	D	0.89917	1.0	D	0.65874	0.939	T	0.59150	-0.7508	10	0.66056	D	0.02	-26.9539	10.9678	0.47422	0.3402:0.6598:0.0:0.0	.	164	Q99527	GPER_HUMAN	C	164	ENSP00000385151:R164C;ENSP00000380281:R164C;ENSP00000297469:R164C;ENSP00000380277:R164C	ENSP00000297469:R164C	R	+	1	0	GPER	1098380	1.000000	0.71417	0.998000	0.56505	0.911000	0.54048	2.573000	0.46007	2.466000	0.83321	0.643000	0.83706	CGC		0.627	GPER1-030	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060001.1	NM_001039966		10	56	0	0	0	1	0	10	56				
OR5F1	338674	broad.mit.edu	37	11	55761592	55761592	+	Missense_Mutation	SNP	G	G	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:55761592G>T	ENST00000278409.1	-	1	509	c.510C>A	c.(508-510)gaC>gaA	p.D170E		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	170					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TGACATTGGAGTCACAGAATG	0.473																																						ENST00000278409.1																			0				endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58						c.(508-510)gaC>gaA		olfactory receptor, family 5, subfamily F, member 1							85.0	80.0	82.0					11																	55761592		2201	4296	6497	SO:0001583	missense	338674				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55761592G>T	AF065863	CCDS31515.1	11q11	2012-08-09			ENSG00000149133	ENSG00000149133		"""GPCR / Class A : Olfactory receptors"""	8343	protein-coding gene	gene with protein product		608492				9787077	Standard	NM_003697		Approved	OR11-10	uc010riv.2	O95221	OTTHUMG00000166825	ENST00000278409.1:c.510C>A	11.37:g.55761592G>T	ENSP00000278409:p.Asp170Glu						p.D170E	NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN			1	509	-	Esophageal squamous(21;0.00448)		170					Q495D1|Q6IFB9	Missense_Mutation	SNP	ENST00000278409.1	37	c.510C>A	CCDS31515.1	.	.	.	.	.	.	.	.	.	.	G	7.003	0.555178	0.13436	.	.	ENSG00000149133	ENST00000278409	T	0.36699	1.24	2.92	-5.83	0.02325	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.18215	0.0437	N	0.25286	0.73	0.09310	N	1	B	0.09022	0.002	B	0.18263	0.021	T	0.18116	-1.0347	9	0.45353	T	0.12	.	2.4961	0.04621	0.211:0.2624:0.3968:0.1299	.	170	O95221	OR5F1_HUMAN	E	170	ENSP00000278409:D170E	ENSP00000278409:D170E	D	-	3	2	OR5F1	55518168	0.000000	0.05858	0.000000	0.03702	0.522000	0.34438	-7.921000	0.00027	-2.070000	0.00881	0.297000	0.19635	GAC		0.473	OR5F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391532.1	NM_003697		22	75	1	0	2.39556e-15	1	2.58189e-15	22	75				
IDS	3423	broad.mit.edu	37	X	148582533	148582533	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:148582533T>A	ENST00000340855.6	-	4	663	c.454A>T	c.(454-456)Agc>Tgc	p.S152C	IDS_ENST00000422081.2_5'UTR|IDS_ENST00000490775.1_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.S152C|IDS_ENST00000370443.4_Missense_Mutation_p.S152C|IDS_ENST00000427113.2_5'Flank|IDS_ENST00000541269.1_5'UTR	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	152					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AAAGACCAGCTATACGGAGAA	0.388																																						ENST00000340855.6																			0				NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20						c.(454-456)Agc>Tgc		iduronate 2-sulfatase							138.0	125.0	130.0					X																	148582533		2203	4300	6503	SO:0001583	missense	3423					lysosome	iduronate-2-sulfatase activity|metal ion binding	g.chrX:148582533T>A	M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.454A>T	X.37:g.148582533T>A	ENSP00000339801:p.Ser152Cys					IDS_ENST00000370443.4_Missense_Mutation_p.S152C|IDS_ENST00000541269.1_5'UTR|IDS_ENST00000370441.4_Missense_Mutation_p.S152C|IDS_ENST00000490775.1_5'UTR|AF011889.5_ENST00000422081.1_RNA	p.S152C	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN			4	663	-	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)		152					D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	ENST00000340855.6	37	c.454A>T	CCDS14685.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.393620	0.83011	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443	D;D;D	0.98717	-5.09;-5.09;-5.09	5.32	5.32	0.75619	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99196	0.9721	M	0.88031	2.925	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99323	1.0907	10	0.87932	D	0	.	14.5498	0.68057	0.0:0.0:0.0:1.0	.	152;62;152	P22304-2;B4DGD7;P22304	.;.;IDS_HUMAN	C	152	ENSP00000339801:S152C;ENSP00000359470:S152C;ENSP00000359472:S152C	ENSP00000339801:S152C	S	-	1	0	IDS	148390438	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.218000	0.77991	1.885000	0.54596	0.486000	0.48141	AGC		0.388	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058677.3			23	29	0	0	0	1	0	23	29				
BFSP1	631	broad.mit.edu	37	20	17479642	17479642	+	Missense_Mutation	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr20:17479642T>C	ENST00000377873.3	-	6	818	c.779A>G	c.(778-780)tAt>tGt	p.Y260C	BFSP1_ENST00000377868.2_Missense_Mutation_p.Y135C|BFSP1_ENST00000544874.1_Missense_Mutation_p.Y121C|BFSP1_ENST00000536626.1_Missense_Mutation_p.Y121C	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	260	Coil 2.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTCATCGTCATAACACTCATG	0.478																																						ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(778-780)tAt>tGt		beaded filament structural protein 1, filensin							147.0	135.0	139.0					20																	17479642		2203	4300	6503	SO:0001583	missense	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17479642T>C	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.779A>G	20.37:g.17479642T>C	ENSP00000367104:p.Tyr260Cys					BFSP1_ENST00000544874.1_Missense_Mutation_p.Y121C|BFSP1_ENST00000536626.1_Missense_Mutation_p.Y121C|BFSP1_ENST00000377868.2_Missense_Mutation_p.Y135C	p.Y260C	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			6	818	-			260			Coil 2.|Rod.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Missense_Mutation	SNP	ENST00000377873.3	37	c.779A>G	CCDS13126.1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.045368	0.55110	.	.	ENSG00000125864	ENST00000377873;ENST00000377868;ENST00000536626;ENST00000544874	D;T;T;T	0.89552	-2.53;0.79;0.78;0.78	6.07	4.94	0.65067	.	0.061993	0.64402	D	0.000003	D	0.93485	0.7921	M	0.75264	2.295	0.58432	D	0.999992	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	D	0.93452	0.6803	10	0.87932	D	0	-8.8482	11.5184	0.50536	0.1344:0.0:0.0:0.8656	.	135;260	Q12934-2;Q12934	.;BFSP1_HUMAN	C	260;135;121;121	ENSP00000367104:Y260C;ENSP00000367099:Y135C;ENSP00000442522:Y121C;ENSP00000439870:Y121C	ENSP00000367099:Y135C	Y	-	2	0	BFSP1	17427642	0.998000	0.40836	0.021000	0.16686	0.394000	0.30568	3.014000	0.49590	1.076000	0.40961	0.533000	0.62120	TAT		0.478	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		38	105	0	0	0	1	0	38	105				
CACNA1I	8911	broad.mit.edu	37	22	40066188	40066188	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:40066188G>A	ENST00000402142.3	+	25	4340	c.4340G>A	c.(4339-4341)cGg>cAg	p.R1447Q	CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1447Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1412Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1412Q|CACNA1I_ENST00000336649.4_Missense_Mutation_p.R1453Q|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1412Q	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1447					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGAGGCACGGCGGCGTGAG	0.627																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(4357-4359)cGg>cAg		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						129.0	129.0	129.0					22																	40066188		2092	4199	6291	SO:0001583	missense	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40066188G>A	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.4340G>A	22.37:g.40066188G>A	ENSP00000385019:p.Arg1447Gln					CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1412Q|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1447Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1412Q|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1447Q|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1412Q	p.R1453Q			Q9P0X4	CAC1I_HUMAN			28	4358	+	Melanoma(58;0.0749)		1447					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	ENST00000402142.3	37	c.4358G>A	CCDS46710.1	.	.	.	.	.	.	.	.	.	.	G	18.56	3.651267	0.67472	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.96913	-4.15;-4.11;-4.14;-4.09;-4.17;-4.08	4.13	3.08	0.35506	.	0.276325	0.33895	N	0.004452	D	0.97090	0.9049	M	0.70595	2.14	0.34945	D	0.750678	P;D;D;D	0.76494	0.953;0.999;0.981;0.999	B;P;B;P	0.61800	0.343;0.811;0.436;0.894	D	0.99338	1.0911	10	0.52906	T	0.07	.	13.197	0.59745	0.0:0.0:0.8388:0.1612	.	1412;1447;1412;1447	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	Q	1447;1412;1447;1412;1453;1412	ENSP00000385019:R1447Q;ENSP00000384093:R1412Q;ENSP00000383887:R1447Q;ENSP00000385680:R1412Q;ENSP00000337829:R1453Q;ENSP00000383028:R1412Q	ENSP00000337829:R1453Q	R	+	2	0	CACNA1I	38396134	1.000000	0.71417	0.981000	0.43875	0.621000	0.37620	3.660000	0.54496	0.815000	0.34398	0.555000	0.69702	CGG		0.627	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		40	115	0	0	0	1	0	40	115				
TBX2	6909	broad.mit.edu	37	17	59485538	59485538	+	Missense_Mutation	SNP	G	G	A	rs147014278		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:59485538G>A	ENST00000240328.3	+	7	2091	c.1810G>A	c.(1810-1812)Ggc>Agc	p.G604S	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	604					aorta morphogenesis (GO:0035909)|atrioventricular canal development (GO:0036302)|cardiac muscle tissue development (GO:0048738)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|developmental growth involved in morphogenesis (GO:0060560)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|endocardial cushion morphogenesis (GO:0003203)|mammary placode formation (GO:0060596)|muscle cell fate determination (GO:0007521)|negative regulation of cardiac chamber formation (GO:1901211)|negative regulation of heart looping (GO:1901208)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|outflow tract septum morphogenesis (GO:0003148)|palate development (GO:0060021)|pharynx development (GO:0060465)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(7)|ovary(1)	9						cgcagccgccgGCTCCCTCTC	0.697													G|||	1	0.000199681	0.0008	0.0	5008	,	,		14222	0.0		0.0	False		,,,				2504	0.0				GBM(3;187 253 11467 14965 23079)	ENST00000240328.3																			0				endometrium(1)|lung(7)|ovary(1)	9						c.(1810-1812)Ggc>Agc		T-box 2		G	SER/GLY	3,4375		0,3,2186	16.0	19.0	18.0		1810	5.0	0.6	17	dbSNP_134	18	0,8564		0,0,4282	no	missense	TBX2	NM_005994.3	56	0,3,6468	AA,AG,GG		0.0,0.0685,0.0232	benign	604/713	59485538	3,12939	2189	4282	6471	SO:0001583	missense	6909				cell aging|positive regulation of cell proliferation		sequence-specific DNA binding	g.chr17:59485538G>A	AB209378	CCDS11627.2	17q23.2	2012-01-23			ENSG00000121068	ENSG00000121068		"""T-boxes"""	11597	protein-coding gene	gene with protein product		600747				8530034	Standard	NM_005994		Approved		uc010wox.2	Q13207	OTTHUMG00000156986	ENST00000240328.3:c.1810G>A	17.37:g.59485538G>A	ENSP00000240328:p.Gly604Ser					RP11-332H18.4_ENST00000592009.1_RNA	p.G604S	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN			7	2091	+			604					Q16424|Q7Z647	Missense_Mutation	SNP	ENST00000240328.3	37	c.1810G>A	CCDS11627.2	.	.	.	.	.	.	.	.	.	.	G	0.121	-1.125899	0.01770	6.85E-4	0.0	ENSG00000121068	ENST00000240328	D	0.83075	-1.68	5.01	5.01	0.66863	.	0.663304	0.15904	N	0.238915	T	0.45478	0.1344	N	0.00237	-1.79	0.28772	N	0.900305	B	0.32350	0.366	B	0.25759	0.063	T	0.52094	-0.8621	10	0.02654	T	1	.	10.6245	0.45500	0.0883:0.0:0.9117:0.0	.	604	Q13207	TBX2_HUMAN	S	604	ENSP00000240328:G604S	ENSP00000240328:G604S	G	+	1	0	TBX2	56840320	0.874000	0.30092	0.583000	0.28640	0.175000	0.22909	1.852000	0.39348	2.608000	0.88229	0.655000	0.94253	GGC		0.697	TBX2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346977.2	NM_005994		11	30	0	0	0	1	0	11	30				
GRM3	2913	broad.mit.edu	37	7	86468506	86468506	+	Missense_Mutation	SNP	T	T	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:86468506T>G	ENST00000361669.2	+	4	2775	c.1676T>G	c.(1675-1677)cTa>cGa	p.L559R	GRM3_ENST00000546348.1_Missense_Mutation_p.L151R|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.L431R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	559					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					ACTGCAGACCTAACTGGATGC	0.532																																					GBM(52;969 1098 3139 52280)	ENST00000361669.2																			0				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109						c.(1675-1677)cTa>cGa		glutamate receptor, metabotropic 3	Acamprosate(DB00659)|Nicotine(DB00184)						128.0	116.0	120.0					7																	86468506		2203	4300	6503	SO:0001583	missense	2913				synaptic transmission	integral to plasma membrane		g.chr7:86468506T>G		CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.1676T>G	7.37:g.86468506T>G	ENSP00000355316:p.Leu559Arg					GRM3_ENST00000536043.1_Missense_Mutation_p.L431R|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.L151R	p.L559R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN			4	2775	+	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)		559					Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	ENST00000361669.2	37	c.1676T>G	CCDS5600.1	.	.	.	.	.	.	.	.	.	.	T	8.758	0.922973	0.18056	.	.	ENSG00000198822	ENST00000361669;ENST00000546348;ENST00000536043	D;D;D	0.85955	-2.05;-1.96;-1.81	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.87993	0.6318	L	0.43152	1.355	0.80722	D	1	P;D;D	0.89917	0.788;1.0;1.0	B;D;D	0.97110	0.193;1.0;0.995	D	0.83445	0.0045	10	0.06757	T	0.87	.	16.0034	0.80327	0.0:0.0:0.0:1.0	.	151;431;559	B7Z204;F5GYZ2;Q14832	.;.;GRM3_HUMAN	R	559;151;431	ENSP00000355316:L559R;ENSP00000444064:L151R;ENSP00000441407:L431R	ENSP00000355316:L559R	L	+	2	0	GRM3	86306442	1.000000	0.71417	0.959000	0.39883	0.993000	0.82548	8.040000	0.89188	2.371000	0.80710	0.533000	0.62120	CTA		0.532	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253362.2			31	92	0	0	0	1	0	31	92				
RP11-24M17.5	0	broad.mit.edu	37	15	76074470	76074470	+	RNA	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr15:76074470A>G	ENST00000395215.3	+	0	649				RN7SL319P_ENST00000480656.2_RNA														p.Q203R(4)									CGGTTACAGCAGACCATAAAG	0.577																																						ENST00000395215.3																			4	Substitution - Missense(4)	p.Q203R(4)	kidney(3)|endometrium(1)																																																0							g.chr15:76074470A>G																													15.37:g.76074470A>G														0	649	+									RNA	SNP	ENST00000395215.3	37			.	.	.	.	.	.	.	.	.	.	.	3.199	-0.164202	0.06502	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.789	0.789	0.18607	.	.	.	.	.	T	0.40222	0.1108	.	.	.	.	.	.	D	0.54964	0.969	P	0.57101	0.813	T	0.45101	-0.9284	6	0.19147	T	0.46	.	2.915	0.05750	0.5938:0.0:0.0:0.4062	.	203	B4DZE6	.	R	203	.	ENSP00000378641:Q203R	Q	+	2	0	AC019294.2	73861525	0.996000	0.38824	0.003000	0.11579	0.003000	0.03518	0.808000	0.27154	0.620000	0.30215	0.228000	0.17796	CAG		0.577	RP11-24M17.5-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000420501.1			8	60	0	0	0	1	0	8	60				
SLAMF7	57823	broad.mit.edu	37	1	160720095	160720095	+	Splice_Site	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:160720095T>C	ENST00000368043.3	+	4	688	c.651T>C	c.(649-651)ggT>ggC	p.G217G	SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458602.2_Intron|SLAMF7_ENST00000368042.3_Splice_Site_p.G110G|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000359331.4_Splice_Site_p.G217G	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	217					cell adhesion (GO:0007155)|natural killer cell activation (GO:0030101)|natural killer cell mediated cytotoxicity (GO:0042267)|regulation of natural killer cell activation (GO:0032814)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			TCTCTGAAGGTGCTGCTGATG	0.552																																						ENST00000368043.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24						c.e4-1		SLAM family member 7							238.0	227.0	231.0					1																	160720095		2203	4300	6503	SO:0001630	splice_region_variant	57823				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity	g.chr1:160720095T>C	AB027233	CCDS1209.1, CCDS60321.1, CCDS60322.1, CCDS60323.1, CCDS60324.1, CCDS60325.1, CCDS72956.1, CCDS72957.1	1q23.1-q24.1	2013-01-11			ENSG00000026751	ENSG00000026751		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	21394	protein-coding gene	gene with protein product		606625				11802771, 11220635	Standard	XM_005245386		Approved	CRACC, 19A, CS1, CD319	uc001fwq.3	Q9NQ25	OTTHUMG00000024008	ENST00000368043.3:c.650-1T>C	1.37:g.160720095T>C						SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000368042.3_Splice_Site_p.G110_splice|SLAMF7_ENST00000359331.4_Splice_Site_p.G217_splice|SLAMF7_ENST00000458104.2_Intron|SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458602.2_Intron	p.G217_splice	NM_021181.3	NP_067004.3	Q9NQ25	SLAF7_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.0175)		4	688	+	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		217					A8K3U1|B4DPU4|B4DPY3|B4DWA3|Q8N6Y8|Q8ND32|Q9NY08|Q9NY23	Splice_Site	SNP	ENST00000368043.3	37	c.649_splice	CCDS1209.1																																																																																				0.552	SLAMF7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060464.1	NM_021181	Silent	51	164	0	0	0	1	0	51	164				
NEURL4	84461	broad.mit.edu	37	17	7220820	7220820	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:7220820G>A	ENST00000399464.2	-	27	4293	c.4278C>T	c.(4276-4278)gcC>gcT	p.A1426A	NEURL4_ENST00000570460.1_Silent_p.A1402A|NEURL4_ENST00000315614.7_Silent_p.A1424A|GPS2_ENST00000380728.2_5'Flank|GPS2_ENST00000389167.5_5'Flank|RP11-542C16.2_ENST00000575474.1_Missense_Mutation_p.P240L|GPS2_ENST00000391950.3_5'Flank|NEURL4_ENST00000574120.1_5'UTR	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1426						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TCCGTACAGCGGCAACATTGC	0.602																																						ENST00000575474.1																			0											c.(718-720)cCg>cTg									103.0	106.0	105.0					17																	7220820		2059	4212	6271	SO:0001819	synonymous_variant	0							g.chr17:7220820G>A		CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.4278C>T	17.37:g.7220820G>A						NEURL4_ENST00000574120.1_5'UTR|NEURL4_ENST00000570460.1_Silent_p.A1402A|NEURL4_ENST00000399464.2_Silent_p.A1426A|NEURL4_ENST00000315614.7_Silent_p.A1424A	p.P240L							6	718	-								Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	ENST00000399464.2	37	c.719C>T	CCDS42251.1																																																																																				0.602	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255434.2	NM_032442		25	29	0	0	0	1	0	25	29				
NLRP8	126205	broad.mit.edu	37	19	56466706	56466706	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:56466706G>A	ENST00000291971.3	+	3	1353	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	428	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				neuron death (GO:0070997)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)	p.V428I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTGTGTTCGTCCGGTATAT	0.498																																						ENST00000291971.3																			1	Substitution - Missense(1)	p.V428I(1)	kidney(1)	breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35						c.(1282-1284)Gtc>Atc		NLR family, pyrin domain containing 8							88.0	90.0	90.0					19																	56466706		2203	4300	6503	SO:0001583	missense	126205					cytoplasm	ATP binding	g.chr19:56466706G>A	AY154463	CCDS12937.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179709		"""Nucleotide-binding domain and leucine rich repeat containing"""	22940	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 8"""	609659	"""NACHT, leucine rich repeat and PYD containing 8"""	NALP8		12563287	Standard	NM_176811		Approved	NOD16, PAN4, CLR19.2	uc002qmh.3	Q86W28		ENST00000291971.3:c.1282G>A	19.37:g.56466706G>A	ENSP00000291971:p.Val428Ile					NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I	p.V428I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN		GBM - Glioblastoma multiforme(193;0.0695)	3	1353	+		Colorectal(82;0.000147)|Ovarian(87;0.17)	428			NACHT.		Q7RTR4	Missense_Mutation	SNP	ENST00000291971.3	37	c.1282G>A	CCDS12937.1	.	.	.	.	.	.	.	.	.	.	G	2.360	-0.346884	0.05208	.	.	ENSG00000179709	ENST00000291971	D	0.83419	-1.72	1.78	-1.96	0.07525	.	.	.	.	.	T	0.63628	0.2527	L	0.27053	0.805	0.09310	N	1	P;P	0.47762	0.9;0.573	B;B	0.35278	0.199;0.177	T	0.56553	-0.7960	9	0.29301	T	0.29	.	5.2449	0.15490	0.6082:0.0:0.3918:0.0	.	428;428	Q86W28-2;Q86W28	.;NALP8_HUMAN	I	428	ENSP00000291971:V428I	ENSP00000291971:V428I	V	+	1	0	NLRP8	61158518	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.089000	0.15002	-0.472000	0.06881	-0.346000	0.07831	GTC		0.498	NLRP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457462.1	NM_176811		30	138	0	0	0	1	0	30	138				
DLX6	1750	broad.mit.edu	37	7	96637143	96637143	+	Splice_Site	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:96637143G>A	ENST00000518156.2	+	2	1060	c.630G>A	c.(628-630)caG>caA	p.Q210Q	DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_Splice_Site_p.Q82Q|DLX6_ENST00000007660.5_Splice_Site_p.Q182Q|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS2_ENST00000606174.1_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000437331.2_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	92					anatomical structure formation involved in morphogenesis (GO:0048646)|embryonic limb morphogenesis (GO:0030326)|epithelial cell differentiation (GO:0030855)|head development (GO:0060322)|inner ear morphogenesis (GO:0042472)|nervous system development (GO:0007399)|palate development (GO:0060021)|positive regulation of epithelial cell proliferation (GO:0050679)|skeletal system development (GO:0001501)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CACAAACACAGGTAATTCCCG	0.527																																						ENST00000518156.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12						c.e2+1		distal-less homeobox 6							36.0	35.0	35.0					7																	96637143		1934	4136	6070	SO:0001630	splice_region_variant	1750				nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:96637143G>A		CCDS47647.1, CCDS47647.2	7q21.3	2011-06-20	2005-12-22		ENSG00000006377	ENSG00000006377		"""Homeoboxes / ANTP class : NKL subclass"""	2919	protein-coding gene	gene with protein product		600030	"""distal-less homeo box 6"""			7907794	Standard	NM_005222		Approved		uc022ahu.1	P56179	OTTHUMG00000154201	ENST00000518156.2:c.630+1G>A	7.37:g.96637143G>A						DLX6_ENST00000007660.5_Splice_Site_p.Q182_splice|DLX6_ENST00000555308.1_Splice_Site_p.Q82_splice|DLX6-AS1_ENST00000437331.2_RNA|DLX6_ENST00000493273.2_3'UTR|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA	p.Q210_splice			P56179	DLX6_HUMAN			2	1060	+	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)		92					A4D1I2|B3KSQ0|J3KR92|Q3ZAR6|Q9UPL2	Splice_Site	SNP	ENST00000518156.2	37	c.630_splice	CCDS47647.2																																																																																				0.527	DLX6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334373.4	NM_005222	Silent	4	15	0	0	0	1	0	4	15				
ABI3BP	25890	broad.mit.edu	37	3	100566448	100566448	+	Missense_Mutation	SNP	G	G	A	rs372669157		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:100566448G>A	ENST00000284322.5	-	17	1629	c.1520C>T	c.(1519-1521)cCg>cTg	p.P507L	ABI3BP_ENST00000495063.1_Missense_Mutation_p.P556L|ABI3BP_ENST00000383691.4_5'Flank|ABI3BP_ENST00000471714.1_Missense_Mutation_p.P556L	NM_015429.3	NP_056244.2	Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	507	Pro-rich.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular space (GO:0005615)|interstitial matrix (GO:0005614)	heparin binding (GO:0008201)	p.P556Q(1)|p.P508L(1)|p.P508Q(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ATTATTACCCGGTGTTGTCCA	0.373																																						ENST00000471714.1																			3	Substitution - Missense(3)	p.P556Q(1)|p.P508L(1)|p.P508Q(1)	lung(2)|large_intestine(1)	central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						c.(1666-1668)cCg>cTg		ABI family, member 3 (NESH) binding protein		G	LEU/PRO	0,3706		0,0,1853	277.0	265.0	269.0		1520	3.7	0.4	3		269	1,8187		0,1,4093	no	missense	ABI3BP	NM_015429.3	98	0,1,5946	AA,AG,GG		0.0122,0.0,0.0084	benign	507/1076	100566448	1,11893	1853	4094	5947	SO:0001583	missense	25890					extracellular space		g.chr3:100566448G>A	AB056106	CCDS46880.1	3q12.2	2013-02-11	2008-09-12		ENSG00000154175	ENSG00000154175		"""Fibronectin type III domain containing"""	17265	protein-coding gene	gene with protein product	"""target of Nesh-SH3"""	606279				11501947	Standard	NM_015429		Approved	NESHBP, DKFZP586L2024, TARSH	uc003dun.3	Q7Z7G0	OTTHUMG00000159094	ENST00000284322.5:c.1520C>T	3.37:g.100566448G>A	ENSP00000284322:p.Pro507Leu					ABI3BP_ENST00000284322.5_Missense_Mutation_p.P507L|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P556L	p.P556L			Q7Z7G0	TARSH_HUMAN			19	1776	-			507			Pro-rich.		B3KSL4|Q6ZW20|Q6ZW22|Q9C082|Q9UFI6	Missense_Mutation	SNP	ENST00000284322.5	37	c.1667C>T	CCDS46880.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.059|9.059	0.993986|0.993986	0.19043|0.19043	0.0|0.0	1.22E-4|1.22E-4	ENSG00000154175|ENSG00000154175	ENST00000471714;ENST00000284322;ENST00000495063|ENST00000528490;ENST00000533855	T;T;T|.	0.55760|.	0.5;0.5;0.5|.	4.88|4.88	3.73|3.73	0.42828|0.42828	.|.	1.185830|.	0.06378|.	N|.	0.714707|.	T|T	0.18882|0.18882	0.0453|0.0453	N|N	0.02315|0.02315	-0.6|-0.6	0.80722|0.80722	D|D	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.01281|.	0.0;0.0|.	T|T	0.04017|0.04017	-1.0984|-1.0984	10|5	0.28530|.	T|.	0.3|.	0.2462|0.2462	4.3662|4.3662	0.11225|0.11225	0.7264:0.0:0.0995:0.1741|0.7264:0.0:0.0995:0.1741	.|.	556;507|.	Q5JPC9;Q7Z7G0|.	.;TARSH_HUMAN|.	L|W	556;507;556|24;185	ENSP00000420524:P556L;ENSP00000284322:P507L;ENSP00000433993:P556L|.	ENSP00000284322:P507L|.	P|R	-|-	2|1	0|2	ABI3BP|ABI3BP	102049138|102049138	0.988000|0.988000	0.35896|0.35896	0.362000|0.362000	0.25862|0.25862	0.858000|0.858000	0.48976|0.48976	1.440000|1.440000	0.35024|0.35024	0.976000|0.976000	0.38417|0.38417	-0.469000|-0.469000	0.05056|0.05056	CCG|CGG		0.373	ABI3BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000353260.1			85	117	0	0	0	1	0	85	117				
DCLK1	9201	broad.mit.edu	37	13	36700120	36700120	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr13:36700120G>C	ENST00000360631.3	-	2	366	c.155C>G	c.(154-156)tCc>tGc	p.S52C	DCLK1_ENST00000255448.4_Missense_Mutation_p.S52C|DCLK1_ENST00000379892.4_Missense_Mutation_p.S52C			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	52					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTCTTCTCGGAGCTGAGCGT	0.582																																						ENST00000255448.4																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64						c.(154-156)tCc>tGc		doublecortin-like kinase 1							80.0	74.0	76.0					13																	36700120		2203	4300	6503	SO:0001583	missense	9201				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	g.chr13:36700120G>C	AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.155C>G	13.37:g.36700120G>C	ENSP00000353846:p.Ser52Cys					DCLK1_ENST00000379892.4_Missense_Mutation_p.S52C|DCLK1_ENST00000360631.3_Missense_Mutation_p.S52C	p.S52C	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)	2	366	-		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	52					B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Missense_Mutation	SNP	ENST00000360631.3	37	c.155C>G		.	.	.	.	.	.	.	.	.	.	G	22.1	4.249317	0.80024	.	.	ENSG00000133083	ENST00000255448;ENST00000360631;ENST00000539451;ENST00000379892	D;D;D	0.87809	-2.3;-2.3;-2.3	5.66	5.66	0.87406	.	0.186050	0.48286	D	0.000191	D	0.89629	0.6770	L	0.52573	1.65	0.45025	D	0.99804	P	0.52463	0.953	P	0.56343	0.796	D	0.90182	0.4243	10	0.72032	D	0.01	.	14.5835	0.68308	0.0:0.0:0.8541:0.1459	.	52	O15075-2	.	C	52	ENSP00000255448:S52C;ENSP00000353846:S52C;ENSP00000369222:S52C	ENSP00000255448:S52C	S	-	2	0	DCLK1	35598120	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	6.344000	0.72991	2.671000	0.90904	0.650000	0.86243	TCC		0.582	DCLK1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000044487.1	NM_004734		14	28	0	0	0	1	0	14	28				
HSPBP1	23640	broad.mit.edu	37	19	55776657	55776657	+	Nonsense_Mutation	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:55776657C>A	ENST00000255631.5	-	8	1304	c.994G>T	c.(994-996)Gag>Tag	p.E332*	HSPBP1_ENST00000376343.3_Nonsense_Mutation_p.E230*|HSPBP1_ENST00000433386.2_Nonsense_Mutation_p.E332*|HSPBP1_ENST00000587922.1_Nonsense_Mutation_p.E332*	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1	335					negative regulation of catalytic activity (GO:0043086)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein ubiquitination (GO:0031398)|protein folding (GO:0006457)		enzyme inhibitor activity (GO:0004857)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		TGGTACTCCTCATGCTGCTGC	0.667																																						ENST00000255631.5																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8						c.(994-996)Gag>Tag		HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1							92.0	86.0	88.0					19																	55776657		2203	4300	6503	SO:0001587	stop_gained	23640				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding	g.chr19:55776657C>A		CCDS33111.1	19q13.42	2008-12-16			ENSG00000133265	ENSG00000133265			24989	protein-coding gene	gene with protein product	"""hsp70 interacting protein"", ""Hsp70 binding protein 1"""	612939				10786638, 9830037	Standard	NM_001130106		Approved	HspBP1, FES1	uc002qkd.3	Q9NZL4		ENST00000255631.5:c.994G>T	19.37:g.55776657C>A	ENSP00000255631:p.Glu332*					HSPBP1_ENST00000433386.2_Nonsense_Mutation_p.E332*|HSPBP1_ENST00000376343.3_Nonsense_Mutation_p.E230*|HSPBP1_ENST00000587922.1_Nonsense_Mutation_p.E332*	p.E332*	NM_001130106.1|NM_012267.4	NP_001123578.1|NP_036399.3	Q9NZL4	HPBP1_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)	8	1304	-			335					B3KQP0|B4DG11|O95351|Q6ZNU5	Nonsense_Mutation	SNP	ENST00000255631.5	37	c.994G>T	CCDS33111.1	.	.	.	.	.	.	.	.	.	.	c	36	5.617074	0.96649	.	.	ENSG00000133265	ENST00000433386;ENST00000255631;ENST00000376343	.	.	.	4.23	4.23	0.50019	.	0.111745	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	15.7987	0.78433	0.0:1.0:0.0:0.0	.	.	.	.	X	332;332;230	.	ENSP00000255631:E332X	E	-	1	0	HSPBP1	60468469	0.996000	0.38824	0.988000	0.46212	0.781000	0.44180	3.528000	0.53524	2.091000	0.63221	0.379000	0.24179	GAG		0.667	HSPBP1-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452670.1	NM_012267		30	123	1	0	4.31634e-10	1	4.60093e-10	30	123				
PI4KA	5297	broad.mit.edu	37	22	21083735	21083735	+	Silent	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:21083735T>C	ENST00000572273.1	-	39	4604	c.4374A>G	c.(4372-4374)gaA>gaG	p.E1458E	PI4KA_ENST00000255882.6_Silent_p.E1516E|PI4KA_ENST00000414196.3_Silent_p.E268E			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1458					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CCTGGTCTAGTTCCAGTTCCG	0.552																																					GBM(136;1332 1831 3115 23601 50806)	ENST00000255882.6																			0				breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79						c.(4546-4548)gaA>gaG		phosphatidylinositol 4-kinase, catalytic, alpha							114.0	85.0	95.0					22																	21083735		2203	4300	6503	SO:0001819	synonymous_variant	5297				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	g.chr22:21083735T>C	L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.4374A>G	22.37:g.21083735T>C						PI4KA_ENST00000572273.1_Silent_p.E1458E|PI4KA_ENST00000414196.3_Silent_p.E268E	p.E1516E	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		39	4634	-	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	1458					Q7Z625|Q9UPG2	Silent	SNP	ENST00000572273.1	37	c.4548A>G																																																																																					0.552	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_058004		10	31	0	0	0	1	0	10	31				
PHACTR2	9749	broad.mit.edu	37	6	144086485	144086485	+	Nonsense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:144086485C>G	ENST00000427704.2	+	6	879	c.749C>G	c.(748-750)tCa>tGa	p.S250*	PHACTR2_ENST00000367584.4_Nonsense_Mutation_p.S238*|PHACTR2_ENST00000305766.6_Nonsense_Mutation_p.S170*|PHACTR2_ENST00000440869.2_Nonsense_Mutation_p.S261*|PHACTR2_ENST00000367582.3_Nonsense_Mutation_p.S181*	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	250							protein phosphatase inhibitor activity (GO:0004864)			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CCCAAAGCTTCAAAGGAGACA	0.478																																					Pancreas(12;292 433 7358 48260 52635)|Ovarian(20;501 618 3485 36581 49208)	ENST00000427704.2																			0				NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(748-750)tCa>tGa		phosphatase and actin regulator 2							102.0	104.0	104.0					6																	144086485		1992	4173	6165	SO:0001587	stop_gained	9749						actin binding|protein phosphatase inhibitor activity	g.chr6:144086485C>G	AB014580	CCDS43512.1, CCDS47492.1, CCDS47493.1, CCDS47494.1	6q24.1	2013-01-24	2004-05-20	2004-05-20	ENSG00000112419	ENSG00000112419		"""Phosphatase and actin regulators"""	20956	protein-coding gene	gene with protein product		608724	"""chromosome 6 open reading frame 56"""	C6orf56		9734811, 15107502	Standard	NM_001100164		Approved	KIAA0680	uc010khi.3	O75167	OTTHUMG00000015732	ENST00000427704.2:c.749C>G	6.37:g.144086485C>G	ENSP00000391763:p.Ser250*					PHACTR2_ENST00000367584.4_Nonsense_Mutation_p.S238*|PHACTR2_ENST00000305766.6_Nonsense_Mutation_p.S170*|PHACTR2_ENST00000440869.2_Nonsense_Mutation_p.S261*|PHACTR2_ENST00000367582.3_Nonsense_Mutation_p.S181*	p.S250*	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)	6	879	+			250					A6NKP5|A7MCZ5|A8MZC0|B2RWP7|B4DN76|B4DPB5|B4DTH7|Q5TFA0|Q68DM2	Nonsense_Mutation	SNP	ENST00000427704.2	37	c.749C>G	CCDS47492.1	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033623	0.93575	.	.	ENSG00000112419	ENST00000367584;ENST00000427704;ENST00000305766;ENST00000440869;ENST00000367582;ENST00000451827;ENST00000542769;ENST00000367583	.	.	.	5.22	5.22	0.72569	.	0.855754	0.10035	N	0.724145	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	16.9731	0.86305	0.0:1.0:0.0:0.0	.	.	.	.	X	238;250;170;261;181;128;125;128	.	ENSP00000305530:S170X	S	+	2	0	PHACTR2	144128178	0.987000	0.35691	0.147000	0.22382	0.995000	0.86356	3.504000	0.53347	2.450000	0.82876	0.655000	0.94253	TCA		0.478	PHACTR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042528.2	NM_014721		37	118	0	0	0	1	0	37	118				
SZT2	23334	broad.mit.edu	37	1	43909353	43909353	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:43909353G>A	ENST00000562955.1	+	61	8540	c.8540G>A	c.(8539-8541)cGt>cAt	p.R2847H	SZT2_ENST00000372442.1_Missense_Mutation_p.R2005H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	2904					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CCGGGAGCCCGTGAGGAGCCT	0.602																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(8539-8541)cGt>cAt		seizure threshold 2 homolog (mouse)							126.0	128.0	127.0					1																	43909353		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43909353G>A	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.8540G>A	1.37:g.43909353G>A	ENSP00000457168:p.Arg2847His					SZT2_ENST00000372442.1_Missense_Mutation_p.R2005H	p.R2847H	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			61	8540	+			2904					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.8540G>A	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	16.36	3.100349	0.56183	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.36	5.36	0.76844	.	0.059638	0.64402	D	0.000014	T	0.35970	0.0950	N	0.22421	0.69	0.25139	N	0.990517	D	0.76494	0.999	P	0.58660	0.843	T	0.21999	-1.0229	9	0.45353	T	0.12	.	7.0265	0.24942	0.2108:0.0:0.7892:0.0	.	2847	Q5T011-5	.	H	2005	.	ENSP00000361519:R2005H	R	+	2	0	SZT2	43681940	1.000000	0.71417	0.996000	0.52242	0.818000	0.46254	3.495000	0.53280	2.514000	0.84764	0.650000	0.86243	CGT		0.602	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		39	115	0	0	0	1	0	39	115				
TUBD1	51174	broad.mit.edu	37	17	57952011	57952011	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:57952011G>A	ENST00000592426.1	-	5	823	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000325752.3_Missense_Mutation_p.R275C|TUBD1_ENST00000539018.1_Missense_Mutation_p.R59C|TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000394239.3_Missense_Mutation_p.R275C|TUBD1_ENST00000346141.6_Intron			Q9UJT1	TBD_HUMAN	tubulin, delta 1	275					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	GGAATGTTACGAACACTCAGC	0.368																																						ENST00000325752.3																			0				NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21						c.(823-825)Cgt>Tgt		tubulin, delta 1							184.0	172.0	176.0					17																	57952011		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57952011G>A	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.823C>T	17.37:g.57952011G>A	ENSP00000468518:p.Arg275Cys					TUBD1_ENST00000394239.3_Missense_Mutation_p.R275C|TUBD1_ENST00000346141.6_Intron|TUBD1_ENST00000340993.6_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.R275C|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000539018.1_Missense_Mutation_p.R59C	p.R275C	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		6	1100	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		275					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.823C>T	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	G	11.05	1.524129	0.27299	.	.	ENSG00000108423	ENST00000325752;ENST00000394239;ENST00000539018	T;T	0.78924	-1.22;-0.88	5.62	5.62	0.85841	Tubulin/FtsZ, C-terminal (1);	0.142969	0.64402	D	0.000004	T	0.73187	0.3555	M	0.61703	1.905	0.53688	D	0.999978	B;P	0.39094	0.299;0.659	B;B	0.30029	0.11;0.082	T	0.77587	-0.2532	10	0.66056	D	0.02	-15.3713	15.9644	0.79956	0.0:0.0:0.8647:0.1353	.	275;275	E9PCA7;Q9UJT1	.;TBD_HUMAN	C	275;275;59	ENSP00000320797:R275C;ENSP00000377785:R275C	ENSP00000320797:R275C	R	-	1	0	TUBD1	55306793	1.000000	0.71417	0.998000	0.56505	0.116000	0.19942	4.988000	0.63863	2.651000	0.90000	0.563000	0.77884	CGT		0.368	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		5	306	0	0	0	1	0	5	306				
ZNF271	10778	broad.mit.edu	37	18	32887862	32887862	+	RNA	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr18:32887862G>A	ENST00000399070.3	+	0	2256					NR_024565.1|NR_024566.1		Q14591	ZN271_HUMAN	zinc finger protein 271						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|lung(9)	12						GATTATTGATGAGTATGAAAA	0.383																																						ENST00000399070.3																			0				large_intestine(3)|lung(9)	12															43.0	42.0	43.0					18																	32887862		2203	4300	6503			10778							g.chr18:32887862G>A	X78930		18q12.2	2013-04-03			ENSG00000257267	ENSG00000257267		"""Zinc fingers, C2H2-type"""	13065	other	unknown		604754				7865130, 11777961	Standard	NR_024565		Approved	HZF7, ZNFEB	uc002kyp.4	Q14591	OTTHUMG00000132563		18.37:g.32887862G>A								NR_024565.1|NR_024566.1						0	2256	+								B3KN34|Q96T29|Q9BSX2|Q9UN33|Q9Y5B7	RNA	SNP	ENST00000399070.3	37																																																																																						0.383	ZNF271-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255767.2	NR_024565		8	43	0	0	0	1	0	8	43				
DST	667	broad.mit.edu	37	6	56437563	56437563	+	Silent	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:56437563T>C	ENST00000361203.3	-	48	12910	c.12903A>G	c.(12901-12903)gaA>gaG	p.E4301E	DST_ENST00000446842.2_Silent_p.E3977E|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.E4303E|DST_ENST00000370754.5_Silent_p.E4481E|DST_ENST00000370788.2_Silent_p.E2215E|DST_ENST00000421834.2_Silent_p.E2215E|DST_ENST00000244364.6_Silent_p.E1889E			Q03001	DYST_HUMAN	dystonin	4301					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTGAGACAATTCAGTAACAT	0.378																																						ENST00000370754.5																			0				NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105						c.(13441-13443)gaA>gaG		dystonin							64.0	61.0	62.0					6																	56437563		1846	4091	5937	SO:0001819	synonymous_variant	667				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	g.chr6:56437563T>C	M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.12903A>G	6.37:g.56437563T>C						DST_ENST00000421834.2_Silent_p.E2215E|DST_ENST00000244364.6_Silent_p.E1889E|DST_ENST00000370788.2_Silent_p.E2215E|DST_ENST00000370769.4_Silent_p.E4303E|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Silent_p.E3977E|DST_ENST00000361203.3_Silent_p.E4301E	p.E4481E			Q03001	DYST_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)		52	13442	-	Lung NSC(77;0.103)		4301					B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	ENST00000361203.3	37	c.13443A>G																																																																																					0.378	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723		12	20	0	0	0	1	0	12	20				
HYDIN	54768	broad.mit.edu	37	16	70916787	70916787	+	Missense_Mutation	SNP	C	C	T	rs201494207		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:70916787C>T	ENST00000393567.2	-	60	10141	c.9991G>A	c.(9991-9993)Gaa>Aaa	p.E3331K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3331					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCATTGTTTTCGGTCACGAAG	0.512																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(9991-9993)Gaa>Aaa		HYDIN, axonemal central pair apparatus protein		C	LYS/GLU	0,3936		0,0,1968	67.0	70.0	69.0		9988	4.5	0.9	16		69	1,8275		0,1,4137	yes	missense	HYDIN	NM_032821.2	56	0,1,6105	TT,TC,CC		0.0121,0.0,0.0082	possibly-damaging	3330/5121	70916787	1,12211	1968	4138	6106	SO:0001583	missense	54768							g.chr16:70916787C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.9991G>A	16.37:g.70916787C>T	ENSP00000377197:p.Glu3331Lys						p.E3331K	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			60	10141	-		Ovarian(137;0.0654)	3331					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.9991G>A	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	11.93	1.786612	0.31593	0.0	1.21E-4	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.00932	5.53	4.51	4.51	0.55191	.	0.222920	0.20740	U	0.086555	T	0.00936	0.0031	L	0.27053	0.805	0.80722	D	1	P	0.47545	0.897	B	0.39590	0.304	T	0.75915	-0.3149	10	0.08599	T	0.76	.	16.8143	0.85729	0.0:1.0:0.0:0.0	.	3330	F8WD23	.	K	3331;3330	ENSP00000377197:E3331K	ENSP00000313052:E3330K	E	-	1	0	HYDIN	69474288	0.998000	0.40836	0.866000	0.34008	0.237000	0.25408	4.246000	0.58740	2.072000	0.62099	0.407000	0.27541	GAA		0.512	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			17	51	0	0	0	1	0	17	51				
CLCNKA	1187	broad.mit.edu	37	1	16359723	16359723	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:16359723G>C	ENST00000331433.4	+	19	2007	c.1988G>C	c.(1987-1989)aGa>aCa	p.R663T	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R620T|CLCNKA_ENST00000375692.1_Missense_Mutation_p.R662T|CLCNKA_ENST00000420078.1_Missense_Mutation_p.R662T			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	663	CBS 2. {ECO:0000255|PROSITE- ProRule:PRU00703}.				excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCGCGGGGCAGAGCTGTGGGC	0.607											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375692.1																			0				breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19						c.(1984-1986)aGa>aCa		chloride channel, voltage-sensitive Ka	Niflumic Acid(DB04552)						165.0	147.0	153.0					1																	16359723		2203	4300	6503	SO:0001583	missense	1187				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	g.chr1:16359723G>C		CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.1988G>C	1.37:g.16359723G>C	ENSP00000332771:p.Arg663Thr		OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	709	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Missense_Mutation_p.R662T|CLCNKA_ENST00000439316.2_Missense_Mutation_p.R620T|CLCNKA_ENST00000331433.4_Missense_Mutation_p.R663T	p.R662T			P51800	CLCKA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	20	2113	+		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)	663			CBS 2.		B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Missense_Mutation	SNP	ENST00000331433.4	37	c.1985G>C	CCDS167.1	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877377	0.72294	.	.	ENSG00000186510	ENST00000375692;ENST00000420078;ENST00000439316;ENST00000331433	D;D;D;D	0.94497	-3.44;-3.44;-3.44;-3.44	3.02	3.02	0.34903	Cystathionine beta-synthase, core (2);	0.129142	0.46758	D	0.000275	D	0.96312	0.8797	M	0.87682	2.9	0.48185	D	0.9996	D;P;P	0.56035	0.974;0.954;0.954	P;P;P	0.58331	0.837;0.796;0.837	D	0.96134	0.9095	10	0.87932	D	0	.	9.6459	0.39868	0.0:0.0:1.0:0.0	.	620;662;663	E7EPH6;Q5T5Q4;P51800	.;.;CLCKA_HUMAN	T	662;662;620;663	ENSP00000364844:R662T;ENSP00000410353:R662T;ENSP00000414445:R620T;ENSP00000332771:R663T	ENSP00000332771:R663T	R	+	2	0	CLCNKA	16232310	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	2.424000	0.44714	1.674000	0.50907	0.313000	0.20887	AGA		0.607	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000026326.1			52	163	0	0	0	1	0	52	163				
TPRA1	131601	broad.mit.edu	37	3	127292391	127292391	+	Silent	SNP	G	G	A	rs372160309		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:127292391G>A	ENST00000355552.3	-	11	1471	c.1095C>T	c.(1093-1095)agC>agT	p.S365S	TPRA1_ENST00000296210.7_3'UTR|TPRA1_ENST00000465915.1_5'Flank|TPRA1_ENST00000489960.1_Silent_p.S365S|TPRA1_ENST00000450633.2_Silent_p.S365S	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1	365					aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						TCCAGCGCTCGCTGTCTGTGC	0.657																																						ENST00000355552.3																			0				endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						c.(1093-1095)agC>agT		transmembrane protein, adipocyte asscociated 1							40.0	40.0	40.0					3																	127292391		2202	4299	6501	SO:0001819	synonymous_variant	131601				aging|lipid metabolic process	integral to membrane	G-protein coupled receptor activity	g.chr3:127292391G>A	AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"""GPCR / Unclassified : 7TM orphan receptors"""	30413	protein-coding gene	gene with protein product	"""transmembrane protein 227"""	608336	"""G protein-coupled receptor 175"""	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.1095C>T	3.37:g.127292391G>A						TPRA1_ENST00000489960.1_Silent_p.S365S|TPRA1_ENST00000450633.2_Silent_p.S365S|TPRA1_ENST00000296210.7_3'UTR	p.S365S	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN			11	1471	-			365					A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	Silent	SNP	ENST00000355552.3	37	c.1095C>T	CCDS3042.1																																																																																				0.657	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356624.1	NM_016372		16	70	0	0	0	1	0	16	70				
FLVCR1	28982	broad.mit.edu	37	1	213068340	213068340	+	Missense_Mutation	SNP	C	C	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:213068340C>A	ENST00000366971.4	+	9	1736	c.1538C>A	c.(1537-1539)tCt>tAt	p.S513Y	FLVCR1_ENST00000483790.1_3'UTR	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	513					blood vessel development (GO:0001568)|cell death (GO:0008219)|cellular iron ion homeostasis (GO:0006879)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|erythrocyte differentiation (GO:0030218)|erythrocyte maturation (GO:0043249)|head morphogenesis (GO:0060323)|heme export (GO:0097037)|heme transport (GO:0015886)|in utero embryonic development (GO:0001701)|mitochondrial transport (GO:0006839)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|regulation of organ growth (GO:0046620)|spleen development (GO:0048536)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	heme transporter activity (GO:0015232)|transporter activity (GO:0005215)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		TTAATCAAGTCTGATCTGCGA	0.299																																					Esophageal Squamous(199;2235 2952 19233 26256)	ENST00000366971.4																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12						c.(1537-1539)tCt>tAt		feline leukemia virus subgroup C cellular receptor 1							78.0	84.0	82.0					1																	213068340		2203	4295	6498	SO:0001583	missense	28982				cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity	g.chr1:213068340C>A	AF118637	CCDS1510.1	1q32.3	2014-05-30			ENSG00000162769	ENSG00000162769		"""Solute carriers"""	24682	protein-coding gene	gene with protein product		609144	"""ataxia, posterior column 1, with retinitis pigmentosa"""	AXPC1		10400745, 10648427, 21070897	Standard	NM_014053		Approved	FLVCR, MFSD7B, PCA	uc001hjt.3	Q9Y5Y0	OTTHUMG00000036924	ENST00000366971.4:c.1538C>A	1.37:g.213068340C>A	ENSP00000355938:p.Ser513Tyr					FLVCR1_ENST00000483790.1_3'UTR	p.S513Y	NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)	9	1736	+			513					Q1HE16|Q86XY9|Q9NVR9	Missense_Mutation	SNP	ENST00000366971.4	37	c.1538C>A	CCDS1510.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.8|27.8	4.861298|4.861298	0.91433|0.91433	.|.	.|.	ENSG00000162769|ENSG00000162769	ENST00000419102|ENST00000366971	.|T	.|0.58652	.|0.32	5.61|5.61	5.61|5.61	0.85477|0.85477	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.245872	.|0.43260	.|D	.|0.000582	T|T	0.76870|0.76870	0.4048|0.4048	M|M	0.85630|0.85630	2.765|2.765	0.80722|0.80722	D|D	1|1	.|D	.|0.54964	.|0.969	.|P	.|0.57776	.|0.827	T|T	0.80190|0.80190	-0.1485|-0.1485	5|10	.|0.66056	.|D	.|0.02	-10.7112|-10.7112	19.2155|19.2155	0.93776|0.93776	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|513	.|Q9Y5Y0	.|FLVC1_HUMAN	M|Y	312|513	.|ENSP00000355938:S513Y	.|ENSP00000355938:S513Y	L|S	+|+	1|2	2|0	FLVCR1|FLVCR1	211134963|211134963	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	6.867000|6.867000	0.75511|0.75511	2.635000|2.635000	0.89317|0.89317	0.655000|0.655000	0.94253|0.94253	CTG|TCT		0.299	FLVCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089678.2	NM_014053		56	243	1	0	2.18419e-29	1	2.40758e-29	56	243				
CASC1	55259	broad.mit.edu	37	12	25264751	25264751	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr12:25264751G>C	ENST00000320267.9	-	13	1797	c.1716C>G	c.(1714-1716)atC>atG	p.I572M	CASC1_ENST00000395987.3_Missense_Mutation_p.I578M|CASC1_ENST00000354189.5_Missense_Mutation_p.I636M|CASC1_ENST00000537577.1_Missense_Mutation_p.I460M|CASC1_ENST00000557684.1_5'Flank|CASC1_ENST00000545133.1_Missense_Mutation_p.I513M|CASC1_ENST00000395990.2_Missense_Mutation_p.I532M	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	572										breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TAGTAGGAAAGATATTCAGTC	0.318																																						ENST00000354189.5																			0				breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(1906-1908)atC>atG		cancer susceptibility candidate 1							72.0	74.0	73.0					12																	25264751		2203	4296	6499	SO:0001583	missense	55259							g.chr12:25264751G>C	AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.1716C>G	12.37:g.25264751G>C	ENSP00000313141:p.Ile572Met					CASC1_ENST00000545133.1_Missense_Mutation_p.I513M|CASC1_ENST00000537577.1_Missense_Mutation_p.I460M|CASC1_ENST00000395987.3_Missense_Mutation_p.I578M|CASC1_ENST00000395990.2_Missense_Mutation_p.I532M|CASC1_ENST00000320267.9_Missense_Mutation_p.I572M	p.I636M	NM_001082972.1	NP_001076441.1	Q6TDU7	CASC1_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)		14	1943	-	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		572					B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	c.1908C>G	CCDS41762.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.353|9.353	1.066040|1.066040	0.20067|0.20067	.|.	.|.	ENSG00000118307|ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000545133;ENST00000389246|ENST00000556006	T;T;T;T;T|.	0.54479|.	0.57;1.2;1.2;0.61;0.63|.	5.09|5.09	2.26|2.26	0.28386|0.28386	.|.	0.117857|.	0.56097|.	D|.	0.000034|.	T|T	0.63988|0.63988	0.2558|0.2558	M|M	0.72894|0.72894	2.215|2.215	0.37113|0.37113	D|D	0.900445|0.900445	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.81914|.	0.995;0.992;0.994;0.981;0.992|.	T|T	0.63668|0.63668	-0.6585|-0.6585	10|5	0.87932|.	D|.	0|.	-14.6198|-14.6198	9.5898|9.5898	0.39539|0.39539	0.3278:0.0:0.6722:0.0|0.3278:0.0:0.6722:0.0	.|.	460;513;636;572;578|.	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9|.	.;.;.;CASC1_HUMAN;.|.	M|V	636;578;572;532;460;513;382|409	ENSP00000346126:I636M;ENSP00000379310:I578M;ENSP00000313141:I572M;ENSP00000379313:I532M;ENSP00000437373:I513M|.	ENSP00000313141:I572M|.	I|L	-|-	3|1	3|0	CASC1|CASC1	25156018|25156018	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.011000|0.011000	0.07611|0.07611	2.522000|2.522000	0.45572|0.45572	0.032000|0.032000	0.15435|0.15435	-1.761000|-1.761000	0.00669|0.00669	ATC|CTT		0.318	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272		27	58	0	0	0	1	0	27	58				
CYP4A22	284541	broad.mit.edu	37	1	47610489	47610489	+	Intron	SNP	T	T	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:47610489T>C	ENST00000371891.3	+	9	1119				CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.S259P|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Intron	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22							endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGCTGGTGTTCAGGATGGAA	0.592																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371890.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(775-777)Tca>Cca		cytochrome P450, family 4, subfamily A, polypeptide 22							19.0	19.0	19.0					1																	47610489		2201	4278	6479	SO:0001627	intron_variant	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47610489T>C		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.1089-20T>C	1.37:g.47610489T>C						CYP4A22_ENST00000371891.3_Intron|CYP4A22_ENST00000294337.3_Intron|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	p.S259P			Q5TCH4	CP4AM_HUMAN			7	811	+			0					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	ENST00000371891.3	37	c.775T>C	CCDS30707.1	.	.	.	.	.	.	.	.	.	.	t	11.11	1.541898	0.27563	.	.	ENSG00000162365	ENST00000371890	T	0.73047	-0.71	1.51	-0.63	0.11530	.	.	.	.	.	T	0.64483	0.2602	.	.	.	0.09310	N	1	P	0.49635	0.926	P	0.47346	0.544	T	0.56559	-0.7959	8	0.87932	D	0	.	4.4494	0.11612	0.0:0.6068:0.0:0.3932	.	259	Q5TCH5	.	P	259	ENSP00000360957:S259P	ENSP00000360957:S259P	S	+	1	0	CYP4A22	47383076	0.064000	0.20934	0.000000	0.03702	0.113000	0.19764	3.137000	0.50562	-0.085000	0.12573	0.163000	0.16589	TCA		0.592	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		3	21	0	0	0	1	0	3	21				
LEPR	3953	broad.mit.edu	37	1	66075711	66075711	+	Missense_Mutation	SNP	C	C	T	rs369281071		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:66075711C>T	ENST00000349533.6	+	13	2019	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.R612C|LEPR_ENST00000371058.1_Missense_Mutation_p.R612C|LEPR_ENST00000371060.3_Missense_Mutation_p.R612C|LEPR_ENST00000371059.3_Missense_Mutation_p.R612C|LEPR_ENST00000406510.3_Intron	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TGTTCAGGTGCGCTGTAAGAG	0.413																																						ENST00000349533.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36						c.(1834-1836)Cgc>Tgc		leptin receptor		C	CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG,CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	174.0	165.0	168.0		1834,1834,1834,1834,1834,1834	5.3	1.0	1		168	0,8600		0,0,4300	no	missense,missense,missense,missense,missense,missense	LEPR	NM_001003679.3,NM_001003680.3,NM_001198687.1,NM_001198688.1,NM_001198689.1,NM_002303.5	180,180,180,180,180,180	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	612/897,612/959,612/959,612/907,612/897,612/1166	66075711	1,13005	2203	4300	6503	SO:0001583	missense	3953				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity	g.chr1:66075711C>T	U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.1834C>T	1.37:g.66075711C>T	ENSP00000330393:p.Arg612Cys					LEPR_ENST00000344610.8_Missense_Mutation_p.R612C|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371059.3_Missense_Mutation_p.R612C|LEPR_ENST00000371060.3_Missense_Mutation_p.R612C|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.R612C	p.R612C	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN		OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)	13	2019	+			612			Fibronectin type-III 2.		Q6FHL5	Missense_Mutation	SNP	ENST00000349533.6	37	c.1834C>T	CCDS631.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.554618	0.65425	2.27E-4	0.0	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17	5.28	5.28	0.74379	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.80783	0.4689	M	0.93763	3.455	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.86031	0.1513	10	0.87932	D	0	-11.7103	18.909	0.92475	0.0:1.0:0.0:0.0	.	612;612;612	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	C	612	ENSP00000340884:R612C;ENSP00000330393:R612C;ENSP00000360099:R612C;ENSP00000360098:R612C;ENSP00000360097:R612C	ENSP00000340884:R612C	R	+	1	0	LEPR	65848299	1.000000	0.71417	1.000000	0.80357	0.253000	0.25986	5.606000	0.67641	2.454000	0.82982	0.650000	0.86243	CGC		0.413	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025275.1	NM_002303		4	186	0	0	0	1	0	4	186				
MUC5B	727897	broad.mit.edu	37	11	1268538	1268538	+	Silent	SNP	G	G	A	rs367868062		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:1268538G>A	ENST00000529681.1	+	31	10486	c.10428G>A	c.(10426-10428)tcG>tcA	p.S3476S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.S3479S	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3476	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)		CGGCCACCTCGGGCATCTTGG	0.667																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(10435-10437)tcG>tcA		mucin 5B, oligomeric mucus/gel-forming		G		6,4250		0,6,2122	61.0	87.0	78.0		10428	-2.2	0.0	11		78	0,8416		0,0,4208	no	coding-synonymous	MUC5B	NM_002458.2		0,6,6330	AA,AG,GG		0.0,0.141,0.0473		3476/5763	1268538	6,12666	2128	4208	6336	SO:0001819	synonymous_variant	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1268538G>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.10428G>A	11.37:g.1268538G>A						MUC5B_ENST00000529681.1_Silent_p.S3476S|RP11-532E4.2_ENST00000532061.2_RNA	p.S3479S			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	10495	+		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)	3476	Missing (in Ref. 6; AAB61398).		7 X Cys-rich subdomain repeats.|Thr-rich.		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	ENST00000529681.1	37	c.10437G>A	CCDS44515.2																																																																																				0.667	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		9	100	0	0	0	1	0	9	100				
CHRNG	1146	broad.mit.edu	37	2	233410351	233410351	+	Silent	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:233410351C>T	ENST00000389494.3	+	12	1500	c.1479C>T	c.(1477-1479)ctC>ctT	p.L493L	CHRNG_ENST00000389492.3_Silent_p.L441L	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	493					muscle contraction (GO:0006936)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|channel activity (GO:0015267)			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	Galantamine(DB00674)	GCATCTTCCTCATGGCCCACT	0.627																																						ENST00000389494.3																			0				breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22						c.(1477-1479)ctC>ctT		cholinergic receptor, nicotinic, gamma (muscle)							117.0	98.0	104.0					2																	233410351		2203	4300	6503	SO:0001819	synonymous_variant	1146				muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity	g.chr2:233410351C>T	X01715	CCDS33400.1	2q37.1	2012-10-02	2012-02-07		ENSG00000196811	ENSG00000196811		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1967	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, gamma (muscle)"""	100730	"""cholinergic receptor, nicotinic, gamma"""	ACHRG			Standard	NM_005199		Approved		uc002vsx.1	P07510	OTTHUMG00000153327	ENST00000389494.3:c.1479C>T	2.37:g.233410351C>T						CHRNG_ENST00000389492.3_Silent_p.L441L	p.L493L	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN		Epithelial(121;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)	12	1500	+		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	493					B3KWM8|Q14DU4|Q53RG2	Silent	SNP	ENST00000389494.3	37	c.1479C>T	CCDS33400.1																																																																																				0.627	CHRNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330743.1	NM_005199		46	30	0	0	0	1	0	46	30				
DDX41	51428	broad.mit.edu	37	5	176942237	176942237	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:176942237C>G	ENST00000507955.1	-	7	1117	c.594G>C	c.(592-594)aaG>aaC	p.K198N	DDX41_ENST00000506965.1_5'UTR	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	198					apoptotic process (GO:0006915)|cellular response to interferon-beta (GO:0035458)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)|RNA processing (GO:0006396)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GAATGCCTTTCTTCTTCAGGC	0.532																																						ENST00000507955.1																			0											c.(592-594)aaG>aaC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 41							266.0	217.0	233.0					5																	176942237		2203	4300	6503	SO:0001583	missense	51428				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding	g.chr5:176942237C>G	AF195417	CCDS4427.1	5q35.3	2008-02-05			ENSG00000183258	ENSG00000183258		"""DEAD-boxes"""	18674	protein-coding gene	gene with protein product		608170				10607561	Standard	NM_016222		Approved	ABS, MGC8828	uc003mho.3	Q9UJV9	OTTHUMG00000130858	ENST00000507955.1:c.594G>C	5.37:g.176942237C>G	ENSP00000422753:p.Lys198Asn					DDX41_ENST00000506965.1_5'UTR	p.K198N	NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		7	1117	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	198					B2RDC8|Q96BK6|Q96K05|Q9NT96|Q9NW04	Missense_Mutation	SNP	ENST00000507955.1	37	c.594G>C	CCDS4427.1	.	.	.	.	.	.	.	.	.	.	C	14.53	2.564264	0.45694	.	.	ENSG00000183258	ENST00000330503;ENST00000507955	T;T	0.44482	0.92;0.92	5.72	2.46	0.29980	RNA helicase, DEAD-box type, Q motif (1);	0.108679	0.64402	D	0.000009	T	0.40015	0.1100	M	0.67517	2.055	0.80722	D	1	B	0.19935	0.04	B	0.18561	0.022	T	0.23048	-1.0199	10	0.51188	T	0.08	-18.8038	10.5906	0.45308	0.0:0.6576:0.0:0.3424	.	198	Q9UJV9	DDX41_HUMAN	N	216;198	ENSP00000330349:K216N;ENSP00000422753:K198N	ENSP00000330349:K216N	K	-	3	2	DDX41	176874843	0.996000	0.38824	0.997000	0.53966	0.949000	0.60115	0.458000	0.21892	0.174000	0.19809	0.563000	0.77884	AAG		0.532	DDX41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253432.2	NM_016222		32	101	0	0	0	1	0	32	101				
OR6S1	341799	broad.mit.edu	37	14	21109086	21109086	+	Silent	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:21109086A>G	ENST00000320704.3	-	1	764	c.765T>C	c.(763-765)taT>taC	p.Y255Y		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TGGCACTTCCATAGAAGAGGG	0.517																																						ENST00000320704.3																			0				kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(763-765)taT>taC		olfactory receptor, family 6, subfamily S, member 1							115.0	103.0	107.0					14																	21109086		2203	4300	6503	SO:0001819	synonymous_variant	341799				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:21109086A>G	AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.765T>C	14.37:g.21109086A>G							p.Y255Y	NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)	1	764	-	all_cancers(95;0.00304)		255					Q6IFJ9	Silent	SNP	ENST00000320704.3	37	c.765T>C	CCDS32038.1																																																																																				0.517	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411227.1			36	61	0	0	0	1	0	36	61				
NR1H2	7376	broad.mit.edu	37	19	50882024	50882024	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:50882024C>T	ENST00000253727.5	+	6	953	c.718C>T	c.(718-720)Cgc>Tgc	p.R240C	NR1H2_ENST00000598168.1_Missense_Mutation_p.R240C|NR1H2_ENST00000599105.1_Missense_Mutation_p.R240C|NR1H2_ENST00000593926.1_Missense_Mutation_p.R240C|NR1H2_ENST00000411902.2_Missense_Mutation_p.R143C|NR1H2_ENST00000542413.1_Missense_Mutation_p.R15C	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	240	Ligand-binding. {ECO:0000255}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GTGCAACAAACGCTCCTTCTC	0.617																																						ENST00000542413.1																			0				endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8						c.(43-45)Cgc>Tgc		nuclear receptor subfamily 1, group H, member 2							47.0	54.0	52.0					19																	50882024		2114	4217	6331	SO:0001583	missense	7376				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	g.chr19:50882024C>T	U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.718C>T	19.37:g.50882024C>T	ENSP00000253727:p.Arg240Cys					NR1H2_ENST00000411902.2_Missense_Mutation_p.R143C|NR1H2_ENST00000253727.5_Missense_Mutation_p.R240C|NR1H2_ENST00000593926.1_Missense_Mutation_p.R240C|NR1H2_ENST00000599105.1_Missense_Mutation_p.R240C|NR1H2_ENST00000598168.1_Missense_Mutation_p.R240C	p.R15C			P55055	NR1H2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)	10	1470	+		all_neural(266;0.057)	240					A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	ENST00000253727.5	37	c.43C>T	CCDS42593.1	.	.	.	.	.	.	.	.	.	.	C	19.88	3.909575	0.72868	.	.	ENSG00000131408	ENST00000542413;ENST00000253727;ENST00000411902;ENST00000376942	D;D;D	0.96459	-4.02;-3.0;-3.09	4.3	4.3	0.51218	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.64402	D	0.000009	D	0.96809	0.8958	L	0.49126	1.545	0.49915	D	0.999834	D;D;D	0.89917	0.998;1.0;1.0	P;D;P	0.72075	0.828;0.976;0.828	D	0.96642	0.9475	10	0.72032	D	0.01	.	11.8172	0.52218	0.1762:0.8238:0.0:0.0	.	240;143;241	P55055;E7EWA6;F1D8P7	NR1H2_HUMAN;.;.	C	15;240;143;240	ENSP00000445074:R15C;ENSP00000253727:R240C;ENSP00000396151:R143C	ENSP00000253727:R240C	R	+	1	0	NR1H2	55573836	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	3.472000	0.53114	2.382000	0.81193	0.561000	0.74099	CGC		0.617	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464724.2			12	52	0	0	0	1	0	12	52				
PIK3C2G	5288	broad.mit.edu	37	12	18699354	18699354	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr12:18699354G>A	ENST00000266497.5	+	24	3493	c.3455G>A	c.(3454-3456)aGt>aAt	p.S1152N	PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1193N|PIK3C2G_ENST00000433979.1_Missense_Mutation_p.S1152N			O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1152	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chemotaxis (GO:0006935)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|phosphatidylinositol phosphate kinase activity (GO:0016307)			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GAAGCAACAAGTCATTTTACC	0.423																																						ENST00000433979.1																			0				breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66						c.(3454-3456)aGt>aAt		phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma							98.0	89.0	92.0					12																	18699354		2018	4199	6217	SO:0001583	missense	5288				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	g.chr12:18699354G>A	AJ000008	CCDS44839.1, CCDS73452.1	12p12	2012-07-13	2012-07-13		ENSG00000139144	ENSG00000139144	2.7.1.154		8973	protein-coding gene	gene with protein product		609001	"""phosphoinositide-3-kinase, class 2, gamma polypeptide"""			9878262	Standard	XM_005253393		Approved		uc001rdt.3	O75747	OTTHUMG00000168841	ENST00000266497.5:c.3455G>A	12.37:g.18699354G>A	ENSP00000266497:p.Ser1152Asn					PIK3C2G_ENST00000266497.5_Missense_Mutation_p.S1152N|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.S1193N	p.S1152N	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN			25	3571	+		Hepatocellular(102;0.194)	1152			PI3K/PI4K.		A1L3U0	Missense_Mutation	SNP	ENST00000266497.5	37	c.3455G>A	CCDS44839.1	.	.	.	.	.	.	.	.	.	.	G	15.95	2.984953	0.53934	.	.	ENSG00000139144	ENST00000433979;ENST00000266497;ENST00000538779	T;T;T	0.80909	-1.43;-1.43;-1.43	4.07	4.07	0.47477	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.187622	0.36268	N	0.002691	T	0.78336	0.4267	N	0.11131	0.1	0.38742	D	0.953911	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.80259	-0.1457	10	0.45353	T	0.12	-19.2802	11.6914	0.51519	0.0:0.0:0.8229:0.1771	.	1192;1193;1152	B7ZLY6;F5H369;O75747	.;.;P3C2G_HUMAN	N	1152;1152;1193	ENSP00000404845:S1152N;ENSP00000266497:S1152N;ENSP00000445381:S1193N	ENSP00000266497:S1152N	S	+	2	0	PIK3C2G	18590621	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.134000	0.42102	2.562000	0.86427	0.655000	0.94253	AGT		0.423	PIK3C2G-002	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401316.1	NM_004570		9	16	0	0	0	1	0	9	16				
MUC5B	727897	broad.mit.edu	37	11	1269173	1269173	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:1269173G>A	ENST00000529681.1	+	31	11121	c.11063G>A	c.(11062-11064)gGg>gAg	p.G3688E	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.G3691E	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3688	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)		TCAACTCCGGGGACGACCTGG	0.617																																						ENST00000447027.1																			0				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137						c.(11071-11073)gGg>gAg		mucin 5B, oligomeric mucus/gel-forming							128.0	157.0	147.0					11																	1269173		2078	4165	6243	SO:0001583	missense	727897				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	g.chr11:1269173G>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.11063G>A	11.37:g.1269173G>A	ENSP00000436812:p.Gly3688Glu					MUC5B_ENST00000529681.1_Missense_Mutation_p.G3688E|RP11-532E4.2_ENST00000532061.2_RNA	p.G3691E			Q9HC84	MUC5B_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)	31	11130	+		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)	3688	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	Missense_Mutation	SNP	ENST00000529681.1	37	c.11072G>A	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	6.701	0.497915	0.12762	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.15834	2.39;2.6	2.33	-4.66	0.03329	.	.	.	.	.	T	0.08358	0.0208	N	0.24115	0.695	0.09310	N	1	B;B	0.21225	0.027;0.053	B;B	0.11329	0.003;0.006	T	0.31668	-0.9935	9	0.87932	D	0	.	1.3301	0.02133	0.343:0.269:0.2649:0.123	.	4216;3691	A7Y9J9;E9PBJ0	.;.	E	3688;3691;3660;3593	ENSP00000436812:G3688E;ENSP00000415793:G3691E	ENSP00000343037:G3660E	G	+	2	0	MUC5B	1225749	0.003000	0.15002	0.000000	0.03702	0.004000	0.04260	-0.070000	0.11523	-1.555000	0.01697	-0.339000	0.08088	GGG		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093		77	237	0	0	0	1	0	77	237				
KIF21B	23046	broad.mit.edu	37	1	200969588	200969588	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:200969588C>T	ENST00000422435.2	-	11	1931	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	KIF21B_ENST00000461742.2_Missense_Mutation_p.E539K|KIF21B_ENST00000360529.5_Missense_Mutation_p.E539K|KIF21B_ENST00000332129.2_Missense_Mutation_p.E539K	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	539					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CGGATCACCTCCGAGGCATCC	0.677																																						ENST00000332129.2																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						c.(1615-1617)Gag>Aag		kinesin family member 21B							84.0	91.0	89.0					1																	200969588		2203	4300	6503	SO:0001583	missense	23046				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:200969588C>T	BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.1615G>A	1.37:g.200969588C>T	ENSP00000411831:p.Glu539Lys					KIF21B_ENST00000422435.2_Missense_Mutation_p.E539K|KIF21B_ENST00000360529.5_Missense_Mutation_p.E539K|KIF21B_ENST00000461742.2_Missense_Mutation_p.E539K	p.E539K	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN			11	1931	-			539					B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	ENST00000422435.2	37	c.1615G>A	CCDS58056.1	.	.	.	.	.	.	.	.	.	.	C	19.18	3.777199	0.70107	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.71103	2.01;-0.54;2.01;-0.27	5.13	5.13	0.70059	.	0.265523	0.36101	N	0.002786	T	0.62085	0.2399	L	0.46157	1.445	0.49213	D	0.999768	B;B;B;P	0.35272	0.361;0.361;0.083;0.493	B;B;B;B	0.24974	0.024;0.039;0.057;0.053	T	0.61362	-0.7078	10	0.23891	T	0.37	.	18.5702	0.91132	0.0:1.0:0.0:0.0	.	539;539;539;539	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	K	539	ENSP00000328494:E539K;ENSP00000353724:E539K;ENSP00000433808:E539K;ENSP00000411831:E539K	ENSP00000328494:E539K	E	-	1	0	KIF21B	199236211	1.000000	0.71417	0.961000	0.40146	0.640000	0.38277	7.734000	0.84928	2.385000	0.81259	0.563000	0.77884	GAG		0.677	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382635.1	XM_371332		35	112	0	0	0	1	0	35	112				
MYOZ1	58529	broad.mit.edu	37	10	75397615	75397615	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:75397615C>T	ENST00000359322.4	-	3	503	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_021245.3	NP_067068.1			myozenin 1											central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					GACAGTTCCTCCAACATCACA	0.493																																						ENST00000359322.4																			0				central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12						c.(139-141)Gag>Aag		myozenin 1							212.0	201.0	205.0					10																	75397615		2203	4300	6503	SO:0001583	missense	58529				myofibril assembly	nucleus|pseudopodium	FATZ binding	g.chr10:75397615C>T	AF240633	CCDS7330.1	10q22.1	2008-07-03	2002-01-10	2002-01-11	ENSG00000177791	ENSG00000177791			13752	protein-coding gene	gene with protein product	"""calsarcin-2"""	605603	"""myozenin"""	MYOZ		11171996, 10984498	Standard	NM_021245		Approved	FATZ, CS-2	uc001jur.4	Q9NP98	OTTHUMG00000018466	ENST00000359322.4:c.139G>A	10.37:g.75397615C>T	ENSP00000352272:p.Glu47Lys						p.E47K	NM_021245.3	NP_067068.1	Q9NP98	MYOZ1_HUMAN			3	503	-	Prostate(51;0.0112)		47						Missense_Mutation	SNP	ENST00000359322.4	37	c.139G>A	CCDS7330.1	.	.	.	.	.	.	.	.	.	.	C	37	5.990314	0.97179	.	.	ENSG00000177791	ENST00000359322	T	0.80994	-1.44	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.91536	0.7327	M	0.85859	2.78	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.91398	0.5141	10	0.87932	D	0	-25.1099	20.8794	0.99867	0.0:1.0:0.0:0.0	.	47	Q9NP98	MYOZ1_HUMAN	K	47	ENSP00000352272:E47K	ENSP00000352272:E47K	E	-	1	0	MYOZ1	75067621	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.760000	0.85248	2.941000	0.99782	0.655000	0.94253	GAG		0.493	MYOZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048654.1			55	155	0	0	0	1	0	55	155				
BARHL2	343472	broad.mit.edu	37	1	91180280	91180280	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:91180280C>T	ENST00000370445.4	-	2	700	c.659G>A	c.(658-660)aGt>aAt	p.S220N		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	220					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CTCACGGCTACTCGTAATCTC	0.552																																					GBM(199;3561 4100 22440)	ENST00000370445.4																			0				cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(658-660)aGt>aAt		BarH-like homeobox 2							132.0	133.0	133.0					1																	91180280		2203	4300	6503	SO:0001583	missense	343472					nucleus	sequence-specific DNA binding	g.chr1:91180280C>T	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.659G>A	1.37:g.91180280C>T	ENSP00000359474:p.Ser220Asn						p.S220N	NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	2	700	-		all_lung(203;0.0263)|Lung SC(238;0.128)	220					A0AVP2|Q7Z4N7	Missense_Mutation	SNP	ENST00000370445.4	37	c.659G>A	CCDS730.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069694	0.76301	.	.	ENSG00000143032	ENST00000370445	D	0.91521	-2.86	5.1	5.1	0.69264	.	0.084759	0.85682	D	0.000000	D	0.90542	0.7036	L	0.32530	0.975	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	D	0.91334	0.5092	10	0.51188	T	0.08	.	17.1015	0.86651	0.0:1.0:0.0:0.0	.	220	Q9NY43	BARH2_HUMAN	N	220	ENSP00000359474:S220N	ENSP00000359474:S220N	S	-	2	0	BARHL2	90952868	1.000000	0.71417	0.994000	0.49952	0.979000	0.70002	7.575000	0.82447	2.348000	0.79779	0.655000	0.94253	AGT		0.552	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2			44	139	0	0	0	1	0	44	139				
FHDC1	85462	broad.mit.edu	37	4	153897628	153897628	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:153897628G>A	ENST00000511601.1	+	12	3373	c.3185G>A	c.(3184-3186)cGg>cAg	p.R1062Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R1062Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1062									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GGCATCACTCGGACAGTGTCG	0.657																																						ENST00000511601.1																		ARFIP1/FHDC1(2)	0				NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(3184-3186)cGg>cAg		FH2 domain containing 1							52.0	59.0	56.0					4																	153897628		2203	4300	6503	SO:0001583	missense	85462				actin cytoskeleton organization		actin binding	g.chr4:153897628G>A	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3185G>A	4.37:g.153897628G>A	ENSP00000427567:p.Arg1062Gln					FHDC1_ENST00000260008.3_Missense_Mutation_p.R1062Q	p.R1062Q			Q9C0D6	FHDC1_HUMAN			12	3373	+	all_hematologic(180;0.093)		1062						Missense_Mutation	SNP	ENST00000511601.1	37	c.3185G>A	CCDS34081.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390093	0.61956	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.52295	0.67;0.67	5.76	5.76	0.90799	.	0.474225	0.23532	N	0.047177	T	0.59445	0.2194	L	0.34521	1.04	0.48341	D	0.999638	D	0.89917	1.0	D	0.66602	0.945	T	0.55921	-0.8064	10	0.42905	T	0.14	.	19.9705	0.97284	0.0:0.0:1.0:0.0	.	1062	Q9C0D6	FHDC1_HUMAN	Q	1062	ENSP00000427567:R1062Q;ENSP00000260008:R1062Q	ENSP00000260008:R1062Q	R	+	2	0	FHDC1	154117078	1.000000	0.71417	0.022000	0.16811	0.044000	0.14063	6.013000	0.70776	2.728000	0.93425	0.655000	0.94253	CGG		0.657	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364981.2	NM_033393		9	73	0	0	0	1	0	9	73				
CUL9	23113	broad.mit.edu	37	6	43152524	43152524	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:43152524C>G	ENST00000252050.4	+	2	560	c.476C>G	c.(475-477)aCt>aGt	p.T159S	CUL9_ENST00000372647.2_Missense_Mutation_p.T159S|CUL9_ENST00000354495.3_Missense_Mutation_p.T159S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	159					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)|regulation of mitosis (GO:0007088)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GGGCCCCTCACTGGTGTCTTC	0.622																																						ENST00000252050.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						c.(475-477)aCt>aGt		cullin 9							43.0	44.0	44.0					6																	43152524		2203	4300	6503	SO:0001583	missense	23113				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding	g.chr6:43152524C>G	AB014608	CCDS4890.1	6p21.1	2011-05-24			ENSG00000112659	ENSG00000112659			15982	protein-coding gene	gene with protein product	"""parkin-like cytoplasmic p53 binding protein"", ""p53-associated parkin-like cytoplasmic protein"""	607489				17332328, 10521492, 12526791	Standard	NM_015089		Approved	H7AP1, KIAA0708, PARC	uc003ouk.3	Q8IWT3	OTTHUMG00000014723	ENST00000252050.4:c.476C>G	6.37:g.43152524C>G	ENSP00000252050:p.Thr159Ser					CUL9_ENST00000354495.3_Missense_Mutation_p.T159S|CUL9_ENST00000372647.2_Missense_Mutation_p.T159S	p.T159S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN			2	560	+			159					O75188|Q5TCY3|Q68CP2|Q68D92|Q8N3W9|Q9BU56	Missense_Mutation	SNP	ENST00000252050.4	37	c.476C>G	CCDS4890.1	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505755	0.44558	.	.	ENSG00000112659	ENST00000252050;ENST00000354495;ENST00000372647	T;T;T	0.40756	1.02;1.02;1.02	3.81	3.81	0.43845	Armadillo-like helical (1);	0.355002	0.28119	N	0.016526	T	0.15003	0.0362	N	0.19112	0.55	0.23735	N	0.996984	B;B;P	0.35745	0.131;0.131;0.518	B;B;B	0.30316	0.039;0.039;0.114	T	0.18840	-1.0324	10	0.87932	D	0	-18.1308	16.233	0.82357	0.0:1.0:0.0:0.0	.	159;159;159	E9PEZ1;Q8IWT3;Q05C85	.;CUL9_HUMAN;.	S	159	ENSP00000252050:T159S;ENSP00000346490:T159S;ENSP00000361730:T159S	ENSP00000252050:T159S	T	+	2	0	CUL9	43260502	0.995000	0.38212	0.977000	0.42913	0.895000	0.52256	2.966000	0.49208	2.116000	0.64780	0.313000	0.20887	ACT		0.622	CUL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040582.2	NM_015089		19	49	0	0	0	1	0	19	49				
MAGEC1	9947	broad.mit.edu	37	X	140994457	140994457	+	Missense_Mutation	SNP	A	A	C	rs199509682		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:140994457A>C	ENST00000285879.4	+	4	1553	c.1267A>C	c.(1267-1269)Att>Ctt	p.I423L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	423										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTATTGAGTATTTTACAGAG	0.463										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1267-1269)Att>Ctt		melanoma antigen family C, 1							101.0	112.0	108.0					X																	140994457		2193	4287	6480	SO:0001583	missense	9947						protein binding	g.chrX:140994457A>C	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1267A>C	X.37:g.140994457A>C	ENSP00000285879:p.Ile423Leu	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.I423L	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1553	+	Acute lymphoblastic leukemia(192;6.56e-05)		423					A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	ENST00000285879.4	37	c.1267A>C	CCDS35417.1	.	.	.	.	.	.	.	.	.	.	a	0.015	-1.558009	0.00910	.	.	ENSG00000155495	ENST00000285879	T	0.02498	4.27	.	.	.	.	.	.	.	.	T	0.01222	0.0040	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.42464	-0.9450	8	0.25106	T	0.35	.	3.6384	0.08158	0.249:0.5004:0.2507:0.0	.	423	O60732	MAGC1_HUMAN	L	423	ENSP00000285879:I423L	ENSP00000285879:I423L	I	+	1	0	MAGEC1	140822123	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-4.696000	0.00197	-3.581000	0.00137	-3.580000	0.00029	ATT		0.463	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		25	79	0	0	0	1	0	25	79				
MUC4	4585	broad.mit.edu	37	3	195511286	195511286	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:195511286C>T	ENST00000463781.3	-	2	7624	c.7165G>A	c.(7165-7167)Gac>Aac	p.D2389N	MUC4_ENST00000475231.1_Missense_Mutation_p.D2389N|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGAAGCGTCGGTGACAGGA	0.597																																						ENST00000463781.3																			0				NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(7165-7167)Gac>Aac		mucin 4, cell surface associated							26.0	30.0	29.0					3																	195511286		679	1585	2264	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.chr3:195511286C>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.7165G>A	3.37:g.195511286C>T	ENSP00000417498:p.Asp2389Asn					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D2389N	p.D2389N	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	7624	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	147					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.7165G>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	C	6.699	0.497704	0.12762	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37584	1.38;1.19	.	.	.	.	.	.	.	.	T	0.15392	0.0371	N	0.08118	0	0.09310	N	1	D	0.57571	0.98	B	0.43386	0.418	T	0.09058	-1.0692	7	.	.	.	.	2.1447	0.03784	0.0:0.3304:0.3444:0.3251	.	2389	E7ESK3	.	N	2389	ENSP00000417498:D2389N;ENSP00000420243:D2389N	.	D	-	1	0	MUC4	196995681	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	-2.746000	0.00795	-0.417000	0.07461	0.064000	0.15345	GAC		0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	11	0	0	0	1	0	3	11				
OTOA	146183	broad.mit.edu	37	16	21709177	21709177	+	Missense_Mutation	SNP	C	C	T	rs145435704	byFrequency	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:21709177C>T	ENST00000286149.4	+	9	822	c.821C>T	c.(820-822)aCg>aTg	p.T274M	OTOA_ENST00000388956.4_Missense_Mutation_p.T195M|OTOA_ENST00000388958.3_Missense_Mutation_p.T274M			Q7RTW8	OTOAN_HUMAN	otoancorin	274					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAAGAAATTACGAAAATTAGT	0.353																																						ENST00000388958.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46						c.(820-822)aCg>aTg		otoancorin		C	MET/THR,MET/THR	0,4398		0,0,2199	136.0	136.0	136.0		584,821	-9.4	0.0	16	dbSNP_134	136	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	OTOA	NM_001161683.1,NM_144672.3	81,81	0,3,6496	TT,TC,CC		0.0349,0.0,0.0231	benign,benign	195/1061,274/1140	21709177	3,12995	2199	4300	6499	SO:0001583	missense	146183				sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		g.chr16:21709177C>T	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.821C>T	16.37:g.21709177C>T	ENSP00000286149:p.Thr274Met					OTOA_ENST00000388956.4_Missense_Mutation_p.T195M|OTOA_ENST00000286149.4_Missense_Mutation_p.T274M	p.T274M	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN		GBM - Glioblastoma multiforme(48;0.0414)	9	822	+			274					A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37	c.821C>T		.	.	.	.	.	.	.	.	.	.	c	0.073	-1.197874	0.01594	0.0	3.49E-4	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.13420	2.59;2.59;2.59	5.77	-9.39	0.00619	.	0.470063	0.22915	N	0.054089	T	0.02494	0.0076	N	0.01576	-0.805	0.23689	N	0.997109	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.17018	-1.0383	10	0.42905	T	0.14	-3.0533	1.8744	0.03215	0.174:0.3239:0.2649:0.2371	.	195;274	B3KWU3;E9PF51	.;.	M	274;274;195	ENSP00000373610:T274M;ENSP00000286149:T274M;ENSP00000373608:T195M	ENSP00000286149:T274M	T	+	2	0	OTOA	21616678	0.024000	0.19004	0.048000	0.18961	0.906000	0.53458	-1.205000	0.03014	-1.871000	0.01138	-1.057000	0.02308	ACG		0.353	OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1			19	107	0	0	0	1	0	19	107				
C9orf64	84267	broad.mit.edu	37	9	86571389	86571389	+	Missense_Mutation	SNP	T	T	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr9:86571389T>A	ENST00000376344.3	-	1	243	c.27A>T	c.(25-27)gaA>gaT	p.E9D	C9orf64_ENST00000314700.1_Intron|C9orf64_ENST00000376340.2_5'Flank	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN	chromosome 9 open reading frame 64	9										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ATTTAGAGGATTCCCTGGGAT	0.612																																						ENST00000376344.3																			0				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(25-27)gaA>gaT		chromosome 9 open reading frame 64							48.0	51.0	50.0					9																	86571389		1896	4134	6030	SO:0001583	missense	84267							g.chr9:86571389T>A	AK090882	CCDS6666.2	9q22.1	2014-06-11			ENSG00000165118	ENSG00000165118			28144	protein-coding gene	gene with protein product		611342				24911101	Standard	NM_032307		Approved	MGC10999	uc004anb.3	Q5T6V5	OTTHUMG00000020111	ENST00000376344.3:c.27A>T	9.37:g.86571389T>A	ENSP00000365522:p.Glu9Asp					C9orf64_ENST00000314700.1_Intron	p.E9D	NM_032307.3	NP_115683.3	Q5T6V5	CI064_HUMAN			1	243	-			9					B2RPI6|Q8N2B1|Q9BT18	Missense_Mutation	SNP	ENST00000376344.3	37	c.27A>T	CCDS6666.2	.	.	.	.	.	.	.	.	.	.	T	28.8	4.952104	0.92660	.	.	ENSG00000165118	ENST00000376344	.	.	.	4.75	0.656	0.17844	.	0.000000	0.85682	D	0.000000	T	0.55940	0.1952	M	0.65498	2.005	0.80722	D	1	B	0.26445	0.149	B	0.25987	0.065	T	0.49790	-0.8902	9	0.36615	T	0.2	-23.7006	10.5083	0.44847	0.0:0.7682:0.0:0.2318	.	9	Q5T6V5	CI064_HUMAN	D	9	.	ENSP00000365522:E9D	E	-	3	2	C9orf64	85761209	0.991000	0.36638	0.880000	0.34516	0.866000	0.49608	0.245000	0.18142	0.001000	0.14605	0.379000	0.24179	GAA		0.612	C9orf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052865.1	NM_032307		12	44	0	0	0	1	0	12	44				
CASD1	64921	broad.mit.edu	37	7	94184852	94184852	+	Missense_Mutation	SNP	A	A	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:94184852A>G	ENST00000297273.4	+	18	2463	c.2176A>G	c.(2176-2178)Atc>Gtc	p.I726V		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	726						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CACAAGGGGTATCTTGGTACT	0.373																																						ENST00000297273.4																			0				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31						c.(2176-2178)Atc>Gtc		CAS1 domain containing 1							73.0	65.0	68.0					7																	94184852		2203	4300	6503	SO:0001583	missense	64921					integral to membrane		g.chr7:94184852A>G	AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.2176A>G	7.37:g.94184852A>G	ENSP00000297273:p.Ile726Val						p.I726V	NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		18	2463	+	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		726					B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	ENST00000297273.4	37	c.2176A>G	CCDS5636.1	.	.	.	.	.	.	.	.	.	.	A	0.003	-2.568373	0.00133	.	.	ENSG00000127995	ENST00000297273	T	0.39056	1.1	5.33	1.71	0.24356	.	0.327174	0.35320	N	0.003281	T	0.17789	0.0427	N	0.11064	0.09	0.44966	D	0.997988	B;B	0.02656	0.0;0.0	B;B	0.10450	0.005;0.005	T	0.21449	-1.0245	10	0.02654	T	1	.	8.853	0.35212	0.7838:0.0:0.2162:0.0	.	726;726	Q8WZ77;Q96PB1	.;CASD1_HUMAN	V	726	ENSP00000297273:I726V	ENSP00000297273:I726V	I	+	1	0	CASD1	94022788	1.000000	0.71417	0.984000	0.44739	0.010000	0.07245	4.400000	0.59709	0.430000	0.26230	-0.353000	0.07706	ATC		0.373	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255216.1	NM_022900		31	87	0	0	0	1	0	31	87				
GPRIN3	285513	broad.mit.edu	37	4	90170208	90170208	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:90170208G>C	ENST00000609438.1	-	2	1572	c.1054C>G	c.(1054-1056)Cat>Gat	p.H352D	GPRIN3_ENST00000333209.4_Missense_Mutation_p.H352D	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3	352										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TGTTCAAAATGCTCAGGAGCA	0.587																																						ENST00000333209.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36						c.(1054-1056)Cat>Gat		GPRIN family member 3							66.0	62.0	63.0					4																	90170208		2203	4300	6503	SO:0001583	missense	285513							g.chr4:90170208G>C	AK124616	CCDS34030.1	4q22.1	2006-08-24				ENSG00000185477			27733	protein-coding gene	gene with protein product		611241				15488195	Standard	NM_198281		Approved	GRIN3, FLJ42625	uc003hsm.1	Q6ZVF9		ENST00000609438.1:c.1054C>G	4.37:g.90170208G>C	ENSP00000476603:p.His352Asp						p.H352D	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)	2	1572	-		Hepatocellular(203;0.114)	352					Q8IVE4	Missense_Mutation	SNP	ENST00000609438.1	37	c.1054C>G	CCDS34030.1	.	.	.	.	.	.	.	.	.	.	G	9.908	1.208616	0.22205	.	.	ENSG00000185477	ENST00000333209	T	0.09350	2.99	5.38	0.355	0.16069	.	1.137940	0.06987	N	0.820998	T	0.05914	0.0154	N	0.14661	0.345	0.09310	N	1	B	0.15719	0.014	B	0.12837	0.008	T	0.42413	-0.9453	10	0.59425	D	0.04	0.8587	1.1856	0.01854	0.3401:0.1726:0.3542:0.1331	.	352	Q6ZVF9	GRIN3_HUMAN	D	352	ENSP00000328672:H352D	ENSP00000328672:H352D	H	-	1	0	GPRIN3	90389231	0.785000	0.28726	0.004000	0.12327	0.001000	0.01503	0.743000	0.26231	0.132000	0.18615	-0.136000	0.14681	CAT		0.587	GPRIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363540.2	NM_198281		17	73	0	0	0	1	0	17	73				
MAMSTR	284358	broad.mit.edu	37	19	49217224	49217224	+	Missense_Mutation	SNP	G	G	C			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr19:49217224G>C	ENST00000318083.6	-	8	865	c.802C>G	c.(802-804)Ccc>Gcc	p.P268A	MAMSTR_ENST00000356751.4_Missense_Mutation_p.P165A|MAMSTR_ENST00000377367.3_Missense_Mutation_p.P100A|MAMSTR_ENST00000419611.1_Missense_Mutation_p.P165A|MAMSTR_ENST00000594582.1_Missense_Mutation_p.P100A			Q6ZN01	MASTR_HUMAN	MEF2 activating motif and SAP domain containing transcriptional regulator	268	Pro-rich.|Transcription activation. {ECO:0000250}.				positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)			endometrium(1)|ovary(1)	2						gccggagtgggagttggagcc	0.682																																						ENST00000318083.6																			0				endometrium(1)|ovary(1)	2						c.(802-804)Ccc>Gcc		MEF2 activating motif and SAP domain containing transcriptional regulator							24.0	26.0	25.0					19																	49217224		2203	4298	6501	SO:0001583	missense	284358				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding	g.chr19:49217224G>C	AK093389	CCDS12730.1, CCDS46137.1, CCDS74415.1	19q13.33	2009-07-09			ENSG00000176909	ENSG00000176909			26689	protein-coding gene	gene with protein product	"""MEF2-activating SAP transcriptional regulator"""	610349				16818234	Standard	NM_182574		Approved	MASTR, FLJ36070	uc002pkg.2	Q6ZN01		ENST00000318083.6:c.802C>G	19.37:g.49217224G>C	ENSP00000324175:p.Pro268Ala					MAMSTR_ENST00000377367.3_Missense_Mutation_p.P100A|MAMSTR_ENST00000594582.1_Missense_Mutation_p.P100A|MAMSTR_ENST00000419611.1_Missense_Mutation_p.P165A|MAMSTR_ENST00000356751.4_Missense_Mutation_p.P165A	p.P268A			Q6ZN01	MASTR_HUMAN			8	865	-			268			Pro-rich.|Transcription activation (By similarity).		B7ZKX4|Q3KQU9|Q8N9Y3	Missense_Mutation	SNP	ENST00000318083.6	37	c.802C>G	CCDS46137.1	.	.	.	.	.	.	.	.	.	.	G	7.531	0.658624	0.14645	.	.	ENSG00000176909	ENST00000318083;ENST00000419611;ENST00000377367;ENST00000356751	.	.	.	3.05	-1.68	0.08212	.	1.128180	0.06681	N	0.767925	T	0.15912	0.0383	N	0.11560	0.145	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.26503	-1.0101	9	0.11794	T	0.64	-0.494	4.6244	0.12470	0.2201:0.0:0.5983:0.1816	.	268	Q6ZN01	MASTR_HUMAN	A	268;165;100;165	.	ENSP00000324175:P268A	P	-	1	0	MAMSTR	53909036	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.117000	0.10708	-0.219000	0.10003	-1.596000	0.00833	CCC		0.682	MAMSTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466179.1	NM_182574		14	52	0	0	0	1	0	14	52				
CELSR1	9620	broad.mit.edu	37	22	46859772	46859772	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr22:46859772G>A	ENST00000262738.3	-	2	4014	c.4015C>T	c.(4015-4017)Cgg>Tgg	p.R1339W	CELSR1_ENST00000395964.1_Missense_Mutation_p.R1339W	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1339	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				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)		TGGATGGGCCGGAAGAGCACG	0.662																																						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.(4015-4017)Cgg>Tgg		cadherin, EGF LAG seven-pass G-type receptor 1							67.0	53.0	58.0					22																	46859772		2203	4300	6503	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.chr22:46859772G>A	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.4015C>T	22.37:g.46859772G>A	ENSP00000262738:p.Arg1339Trp					CELSR1_ENST00000395964.1_Missense_Mutation_p.R1339W	p.R1339W	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	2	4014	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	1339			EGF-like 1; calcium-binding.		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	ENST00000262738.3	37	c.4015C>T	CCDS14076.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132838	0.77662	.	.	ENSG00000075275	ENST00000262738;ENST00000395964	T;T	0.54866	0.55;0.55	4.75	4.75	0.60458	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	U	0.000012	T	0.76744	0.4030	M	0.87269	2.87	0.45995	D	0.998805	D	0.89917	1.0	D	0.91635	0.999	T	0.82321	-0.0515	10	0.87932	D	0	.	17.3622	0.87354	0.0:0.0:1.0:0.0	.	1339	Q9NYQ6	CELR1_HUMAN	W	1339	ENSP00000262738:R1339W;ENSP00000379293:R1339W	ENSP00000262738:R1339W	R	-	1	2	CELSR1	45238436	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.878000	0.56130	2.173000	0.68751	0.655000	0.94253	CGG		0.662	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		8	34	0	0	0	1	0	8	34				
FBXW7	55294	broad.mit.edu	37	4	153271277	153271277	+	Splice_Site	SNP	C	C	G	rs13146842		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:153271277C>G	ENST00000281708.4	-	3	1731		c.e3-1		FBXW7_ENST00000603841.1_Splice_Site|FBXW7_ENST00000603548.1_Splice_Site|FBXW7_ENST00000263981.5_Splice_Site|FBXW7_ENST00000296555.5_Splice_Site|FBXW7_ENST00000393956.3_5'Flank	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TTCTTTTCATCTATAAGGTAA	0.289			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		0				NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.e3-1		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							23.0	23.0	23.0					4																	153271277		2191	4277	6468	SO:0001630	splice_region_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153271277C>G	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.502-1G>C	4.37:g.153271277C>G						FBXW7_ENST00000296555.5_Splice_Site|FBXW7_ENST00000603841.1_Splice_Site|FBXW7_ENST00000603548.1_Splice_Site|FBXW7_ENST00000263981.5_Splice_Site		NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			3	1731	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)						B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Splice_Site	SNP	ENST00000281708.4	37		CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261090	0.80246	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FBXW7	153490727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.440000	0.80464	2.836000	0.97738	0.655000	0.94253	.		0.289	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		Intron	11	29	0	0	0	1	0	11	29				
BRD9	65980	broad.mit.edu	37	5	881268	881268	+	Silent	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:881268C>G	ENST00000467963.1	-	9	1162	c.996G>C	c.(994-996)ggG>ggC	p.G332G	BRD9_ENST00000388890.4_Silent_p.G216G|BRD9_ENST00000435709.2_Intron|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000483173.1_Silent_p.G279G|BRD9_ENST00000323510.4_Silent_p.G236G	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	332					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			AGAGCAGGCTCCCGTCCCCGT	0.602																																						ENST00000323510.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29						c.(706-708)ggG>ggC		bromodomain containing 9							84.0	70.0	75.0					5																	881268		2203	4300	6503	SO:0001819	synonymous_variant	65980						nucleic acid binding	g.chr5:881268C>G	AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.996G>C	5.37:g.881268C>G						BRD9_ENST00000435709.2_Intron|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000388890.4_Silent_p.G216G|BRD9_ENST00000483173.1_Silent_p.G279G|BRD9_ENST00000467963.1_Silent_p.G332G	p.G236G			Q9H8M2	BRD9_HUMAN	Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)		6	707	-			332					A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Silent	SNP	ENST00000467963.1	37	c.708G>C	CCDS34127.2																																																																																				0.602	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354113.1	NM_023924		5	27	0	0	0	1	0	5	27				
C1QL3	389941	broad.mit.edu	37	10	16563017	16563017	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr10:16563017G>A	ENST00000298943.3	-	1	987	c.48C>T	c.(46-48)gcC>gcT	p.A16A		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	16					regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCGACGTGCCGGCCGAGCTCA	0.731																																						ENST00000298943.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(46-48)gcC>gcT		complement component 1, q subcomponent-like 3							9.0	13.0	11.0					10																	16563017		2136	4218	6354	SO:0001819	synonymous_variant	389941					collagen		g.chr10:16563017G>A		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.48C>T	10.37:g.16563017G>A							p.A16A	NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN			1	987	-			16					A0PJY4|A0PJY5	Silent	SNP	ENST00000298943.3	37	c.48C>T	CCDS31156.1																																																																																				0.731	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		4	13	0	0	0	1	0	4	13				
GRK1	6011	broad.mit.edu	37	13	114325920	114325920	+	Missense_Mutation	SNP	C	C	T	rs368488746		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr13:114325920C>T	ENST00000335678.6	+	3	1166	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	312	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCACCAGAGGCGGATCGTCTA	0.552																																						ENST00000335678.6																			0				ovary(2)	2						c.(934-936)Cgg>Tgg		G protein-coupled receptor kinase 1			TRP/ARG	0,4180		0,0,2090	27.0	31.0	30.0		934	-2.1	0.0	13		30	1,8433		0,1,4216	no	missense	GRK1	NM_002929.2	101	0,1,6306	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	312/564	114325920	1,12613	2090	4217	6307	SO:0001583	missense	6011				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity	g.chr13:114325920C>T			13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.934C>T	13.37:g.114325920C>T	ENSP00000334876:p.Arg312Trp						p.R312W	NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	all cancers(43;0.234)		3	1166	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	312			Protein kinase.		Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37	c.934C>T		.	.	.	.	.	.	.	.	.	.	c	13.86	2.363603	0.41902	0.0	1.19E-4	ENSG00000185974	ENST00000335678	T	0.25912	1.77	4.43	-2.13	0.07144	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.276045	0.38959	N	0.001518	T	0.28466	0.0704	.	.	.	0.21445	N	0.999681	D	0.60575	0.988	P	0.51266	0.664	T	0.20405	-1.0276	9	0.72032	D	0.01	-12.6614	7.7401	0.28837	0.4867:0.407:0.1063:0.0	.	312	Q15835	RK_HUMAN	W	312	ENSP00000334876:R312W	ENSP00000334876:R312W	R	+	1	2	GRK1	113373921	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-0.422000	0.07043	-0.672000	0.05266	-0.552000	0.04208	CGG		0.552	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929		7	20	0	0	0	1	0	7	20				
TTN	7273	broad.mit.edu	37	2	179479225	179479225	+	Missense_Mutation	SNP	C	C	T	rs558487304		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:179479225C>T	ENST00000591111.1	-	211	44317	c.44093G>A	c.(44092-44094)cGg>cAg	p.R14698Q	RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342175.6_Missense_Mutation_p.R7466Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R7399Q|TTN_ENST00000460472.2_Missense_Mutation_p.R7274Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R16339Q|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13771Q|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA			Q8WZ42	TITIN_HUMAN	titin	14698	Ig-like 96.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCAGTGGCCCGGCCACACAC	0.398																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(49015-49017)cGg>cAg		titin							85.0	82.0	83.0					2																	179479225		1965	4141	6106	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179479225C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.44093G>A	2.37:g.179479225C>T	ENSP00000465570:p.Arg14698Gln					TTN_ENST00000342175.6_Missense_Mutation_p.R7466Q|TTN_ENST00000359218.5_Missense_Mutation_p.R7399Q|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R13771Q|TTN_ENST00000460472.2_Missense_Mutation_p.R7274Q|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R14698Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA	p.R16339Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		261	49240	-			14698			Ig-like 100.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.49016G>A		.	.	.	.	.	.	.	.	.	.	C	17.39	3.378631	0.61735	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.77	5.77	0.91146	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.73265	0.3565	L	0.33624	1.015	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	T	0.74538	-0.3632	9	0.87932	D	0	.	20.3627	0.98863	0.0:1.0:0.0:0.0	.	7274;7399;7466;14698	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	13771;7274;7466;7399;7274	ENSP00000343764:R13771Q;ENSP00000434586:R7274Q;ENSP00000340554:R7466Q;ENSP00000352154:R7399Q	ENSP00000340554:R7466Q	R	-	2	0	TTN	179187470	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.006000	0.70724	2.885000	0.99019	0.655000	0.94253	CGG		0.398	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	35	0	0	0	1	0	13	35				
EPHA7	2045	broad.mit.edu	37	6	93969087	93969087	+	Missense_Mutation	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:93969087G>A	ENST00000369303.4	-	10	2093	c.1909C>T	c.(1909-1911)Cgt>Tgt	p.R637C		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	637	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CCAATCACACGCTCAATTTTA	0.428																																						ENST00000369303.4																			0				NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112						c.(1909-1911)Cgt>Tgt		EPH receptor A7							165.0	149.0	155.0					6																	93969087		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93969087G>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1909C>T	6.37:g.93969087G>A	ENSP00000358309:p.Arg637Cys						p.R637C	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	10	2093	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	637			Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1909C>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	G	12.03	1.815659	0.32145	.	.	ENSG00000135333	ENST00000369303	T	0.64260	-0.09	5.9	5.9	0.94986	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.71160	0.3307	M	0.75085	2.285	0.80722	D	1	D;P;P	0.76494	0.999;0.711;0.754	P;B;B	0.54238	0.746;0.085;0.138	T	0.74355	-0.3692	10	0.87932	D	0	.	20.282	0.98514	0.0:0.0:1.0:0.0	.	633;632;637	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	C	637	ENSP00000358309:R637C	ENSP00000358309:R637C	R	-	1	0	EPHA7	94025808	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.395000	0.66291	2.786000	0.95864	0.563000	0.77884	CGT		0.428	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			27	94	0	0	0	1	0	27	94				
DDX52	11056	broad.mit.edu	37	17	35986097	35986097	+	Missense_Mutation	SNP	C	C	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:35986097C>T	ENST00000349699.2	-	8	1023	c.980G>A	c.(979-981)gGc>gAc	p.G327D	DDX52_ENST00000394367.3_Missense_Mutation_p.G219D	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	327	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CCCAGTTTTGCCATCTTCAAA	0.423																																						ENST00000349699.2																			0				biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17						c.(979-981)gGc>gAc		DEAD (Asp-Glu-Ala-Asp) box polypeptide 52							111.0	102.0	105.0					17																	35986097		2203	4300	6503	SO:0001583	missense	11056					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding	g.chr17:35986097C>T	AF077033	CCDS11323.1	17q21.1	2014-05-06			ENSG00000141141	ENSG00000278053		"""DEAD-boxes"""	20038	protein-coding gene	gene with protein product		612500				11124703	Standard	XM_006721650		Approved	ROK1	uc002hoi.2	Q9Y2R4	OTTHUMG00000188475	ENST00000349699.2:c.980G>A	17.37:g.35986097C>T	ENSP00000268854:p.Gly327Asp					DDX52_ENST00000394367.3_Missense_Mutation_p.G219D	p.G327D	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN			8	1023	-		Breast(25;0.00637)|Ovarian(249;0.15)	327			Helicase ATP-binding.		Q86YG1|Q8N213|Q9NVE0|Q9Y482	Missense_Mutation	SNP	ENST00000349699.2	37	c.980G>A	CCDS11323.1	.	.	.	.	.	.	.	.	.	.	C	33	5.265605	0.95399	.	.	ENSG00000141141	ENST00000349699;ENST00000394367	T;T	0.06849	3.25;3.25	5.8	5.8	0.92144	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	L	0.39245	1.2	0.80722	D	1	P	0.46952	0.887	P	0.57057	0.812	T	0.00032	-1.2275	10	0.59425	D	0.04	-9.4766	19.0512	0.93046	0.0:1.0:0.0:0.0	.	327	Q9Y2R4	DDX52_HUMAN	D	327;219	ENSP00000268854:G327D;ENSP00000377893:G219D	ENSP00000268854:G327D	G	-	2	0	DDX52	33060210	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.270000	0.78493	2.741000	0.93983	0.650000	0.86243	GGC		0.423	DDX52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256795.1	NM_152300		4	114	0	0	0	1	0	4	114				
APLF	200558	broad.mit.edu	37	2	68765185	68765185	+	Missense_Mutation	SNP	C	C	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr2:68765185C>G	ENST00000303795.4	+	7	1157	c.986C>G	c.(985-987)tCg>tGg	p.S329W	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	329					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						GAAAATTGTTCGAGTGCCCAG	0.428																																						ENST00000303795.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						c.(985-987)tCg>tGg		aprataxin and PNKP like factor							93.0	86.0	88.0					2																	68765185		2203	4300	6503	SO:0001583	missense	200558				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding	g.chr2:68765185C>G	BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.986C>G	2.37:g.68765185C>G	ENSP00000307004:p.Ser329Trp					APLF_ENST00000471727.1_3'UTR	p.S329W	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN			7	1157	+			329					A8K476|Q53P47|Q53PB9|Q53QU0	Missense_Mutation	SNP	ENST00000303795.4	37	c.986C>G	CCDS1888.1	.	.	.	.	.	.	.	.	.	.	.	14.17	2.455621	0.43634	.	.	ENSG00000169621	ENST00000303795	T	0.26223	1.75	5.39	-5.62	0.02481	.	1.231600	0.05958	N	0.640134	T	0.18509	0.0444	L	0.47716	1.5	0.09310	N	0.999999	B	0.18013	0.025	B	0.12837	0.008	T	0.37407	-0.9707	10	0.52906	T	0.07	.	4.1624	0.10291	0.1305:0.1841:0.0983:0.5871	.	329	Q8IW19	APLF_HUMAN	W	329	ENSP00000307004:S329W	ENSP00000307004:S329W	S	+	2	0	APLF	68618689	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.187000	0.09656	-0.908000	0.03857	-0.252000	0.11476	TCG		0.428	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251759.1	NM_173545		17	61	0	0	0	1	0	17	61				
OR51B5	282763	broad.mit.edu	37	11	5363939	5363939	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr11:5363939G>A	ENST00000300773.2	-	1	870	c.816C>T	c.(814-816)ctC>ctT	p.L272L	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	272					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCTCATAATGAGGTGAACAA	0.393																																						ENST00000300773.2																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28						c.(814-816)ctC>ctT		olfactory receptor, family 51, subfamily B, member 5							109.0	105.0	107.0					11																	5363939		2201	4297	6498	SO:0001819	synonymous_variant	282763				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5363939G>A	BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.816C>T	11.37:g.5363939G>A						HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	p.L272L	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	870	-		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	272					B2RN59	Silent	SNP	ENST00000300773.2	37	c.816C>T	CCDS31378.1																																																																																				0.393	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142975.1	NM_001005567		14	58	0	0	0	1	0	14	58				
RING1	6015	broad.mit.edu	37	6	33175619	33175619	+	5'Flank	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:33175619G>A	ENST00000374656.4	+	0	0				MIR219-1_ENST00000362166.1_RNA	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1						anterior/posterior pattern specification (GO:0009952)|camera-type eye morphogenesis (GO:0048593)|histone H2A monoubiquitination (GO:0035518)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						TCCCCGCCCCGGGCCGCGGCT	0.647																																						ENST00000362166.1																			0																				31.0	29.0	30.0					6																	33175619		1565	3576	5141	SO:0001631	upstream_gene_variant	407002							g.chr6:33175619G>A		CCDS34424.1	6p21.3	2013-01-09			ENSG00000204227	ENSG00000204227		"""RING-type (C3HC4) zinc fingers"""	10018	protein-coding gene	gene with protein product		602045				1906426	Standard	NM_002931		Approved	RNF1	uc003odk.3	Q06587	OTTHUMG00000031278		6.37:g.33175619G>A	Exception_encountered							NR_029633.1						0	8	+								A8JZZ0|Q5JP96|Q5SQW2|Q86V19	RNA	SNP	ENST00000374656.4	37		CCDS34424.1																																																																																				0.647	RING1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076609.2			3	10	0	0	0	1	0	3	10				
METTL22	79091	broad.mit.edu	37	16	8719531	8719531	+	Silent	SNP	G	G	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr16:8719531G>A	ENST00000381920.3	+	2	267	c.9G>A	c.(7-9)caG>caA	p.Q3Q	METTL22_ENST00000561758.1_Silent_p.Q3Q	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN	methyltransferase like 22	3						nucleus (GO:0005634)	methyltransferase activity (GO:0008168)			large_intestine(5)|lung(4)	9						CCATGGTACAGCTGGCTCCTG	0.572																																						ENST00000381920.3																			0				large_intestine(5)|lung(4)	9						c.(7-9)caG>caA		methyltransferase like 22							55.0	56.0	56.0					16																	8719531		2028	4196	6224	SO:0001819	synonymous_variant	79091						methyltransferase activity	g.chr16:8719531G>A	AK022495	CCDS10533.2	16p13.2	2014-07-15	2011-03-03	2011-03-03	ENSG00000067365	ENSG00000067365			28368	protein-coding gene	gene with protein product		615261	"""chromosome 16 open reading frame 68"""	C16orf68		24140279	Standard	XM_005255570		Approved	FLJ12433,MGC2654	uc002cyz.3	Q9BUU2	OTTHUMG00000129694	ENST00000381920.3:c.9G>A	16.37:g.8719531G>A						METTL22_ENST00000561758.1_Silent_p.Q3Q	p.Q3Q	NM_024109.2	NP_077014.2	Q9BUU2	MET22_HUMAN			2	267	+			3					B2RD29|D3DUF2|Q6XYB4|Q9HA03	Silent	SNP	ENST00000381920.3	37	c.9G>A	CCDS10533.2																																																																																				0.572	METTL22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251901.1	NM_024109		14	54	0	0	0	1	0	14	54				
TMC6	11322	broad.mit.edu	37	17	76120670	76120670	+	Missense_Mutation	SNP	C	C	T	rs201290210		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:76120670C>T	ENST00000590602.1	-	8	985	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	TMC6_ENST00000322933.4_5'UTR|TMC6_ENST00000322914.3_Missense_Mutation_p.A276T|TMC6_ENST00000392467.3_Missense_Mutation_p.A276T|TMC6_ENST00000306591.7_Missense_Mutation_p.A276T|TMC6_ENST00000592076.1_5'Flank|TMC6_ENST00000591436.1_5'Flank|TMC6_ENST00000589553.1_Missense_Mutation_p.A49T			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	276				QVAF -> PRVR (in Ref. 6; AAH35648). {ECO:0000305}.	ion transport (GO:0006811)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGTGGGAAGGCGACCTGAGGG	0.672													C|||	1	0.000199681	0.0	0.0	5008	,	,		15710	0.001		0.0	False		,,,				2504	0.0					ENST00000590602.1																			0				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14						c.(826-828)Gcc>Acc		transmembrane channel-like 6							16.0	18.0	17.0					17																	76120670		2180	4240	6420	SO:0001583	missense	11322					endoplasmic reticulum membrane|integral to membrane		g.chr17:76120670C>T	AY057379	CCDS32748.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000141524	ENSG00000141524			18021	protein-coding gene	gene with protein product		605828	"""epidermodysplasia verruciformis 1"""	EVER1		12426567	Standard	NM_007267		Approved	LAK-4P, EVIN1	uc002juk.2	Q7Z403	OTTHUMG00000177466	ENST00000590602.1:c.826G>A	17.37:g.76120670C>T	ENSP00000465261:p.Ala276Thr					TMC6_ENST00000306591.7_Missense_Mutation_p.A276T|TMC6_ENST00000392467.3_Missense_Mutation_p.A276T|TMC6_ENST00000322914.3_Missense_Mutation_p.A276T|TMC6_ENST00000589553.1_Missense_Mutation_p.A49T|TMC6_ENST00000322933.4_5'UTR	p.A276T			Q7Z403	TMC6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)		8	985	-			276	QVAF -> PRVR (in Ref. 6; AAH35648).				O43284|Q45VJ2|Q8IU98|Q8IUI7|Q8IWU8|Q8TEQ7|Q9HAG5	Missense_Mutation	SNP	ENST00000590602.1	37	c.826G>A	CCDS32748.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.91	2.376795	0.42105	.	.	ENSG00000141524	ENST00000322914;ENST00000392467;ENST00000306591	T;T;T	0.50277	0.75;0.75;0.75	3.64	3.64	0.41730	.	0.822912	0.10729	N	0.640787	T	0.57080	0.2029	L	0.37630	1.12	0.80722	D	1	D;D;D;D;D	0.89917	0.988;0.998;0.997;1.0;0.989	P;P;P;D;P	0.64410	0.572;0.865;0.752;0.925;0.636	T	0.48592	-0.9022	10	0.27785	T	0.31	.	14.8971	0.70651	0.0:1.0:0.0:0.0	.	113;276;49;276;276	B4E003;Q7Z403-2;Q7Z403-4;B3KTU5;Q7Z403	.;.;.;.;TMC6_HUMAN	T	276	ENSP00000313408:A276T;ENSP00000376260:A276T;ENSP00000306405:A276T	ENSP00000306405:A276T	A	-	1	0	TMC6	73632265	0.981000	0.34729	0.986000	0.45419	0.025000	0.11179	2.550000	0.45811	1.567000	0.49668	0.462000	0.41574	GCC		0.672	TMC6-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437146.1			6	25	0	0	0	1	0	6	25				
BAHCC1	57597	broad.mit.edu	37	17	79409647	79409647	+	Silent	SNP	C	C	T	rs367646703		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:79409647C>T	ENST00000307745.7	+	9	1272	c.1272C>T	c.(1270-1272)caC>caT	p.H424H																								AGGACCGGCACCTGGAGGGAA	0.711																																						ENST00000307745.7																			0											c.(1270-1272)caC>caT						0,4014		0,0,2007	17.0	22.0	21.0		1101	3.8	1.0	17		21	1,8303		0,1,4151	no	coding-synonymous	BAHCC1	NM_001080519.2		0,1,6158	TT,TC,CC		0.012,0.0,0.0081		367/2552	79409647	1,12317	2007	4152	6159	SO:0001819	synonymous_variant	57597							g.chr17:79409647C>T																												ENST00000307745.7:c.1272C>T	17.37:g.79409647C>T							p.H424H							9	1272	+									Silent	SNP	ENST00000307745.7	37	c.1272C>T																																																																																					0.711	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	protein_coding				6	19	0	0	0	1	0	6	19				
PINK1	65018	broad.mit.edu	37	1	20971160	20971162	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr1:20971160_20971162delGAA	ENST00000321556.4	+	4	1048_1050	c.954_956delGAA	c.(952-957)atgaag>atg	p.K319del	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	319	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCTCGTTATGAAGAAGTAAGTG	0.626																																					Esophageal Squamous(145;853 1803 8146 34412 35011)	ENST00000321556.4																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14						c.(952-957)atg>at		PTEN induced putative kinase 1																																				SO:0001651	inframe_deletion	65018				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding	g.chr1:20971160_20971162delGAA	AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.954_956delGAA	1.37:g.20971163_20971165delGAA	ENSP00000364204:p.Lys319del					PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	p.MK318del	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	4	1048_1050	+		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	318		M -> L.	Protein kinase.		Q8N6T9|Q8NBU3|Q96DE4	In_Frame_Del	DEL	ENST00000321556.4	37	c.954_956delGAA	CCDS211.1																																																																																				0.626	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007954.1	NM_032409		11	41						11	41	---	---	---	---
LINC00971	440970	broad.mit.edu	37	3	84741480	84741480	+	lincRNA	DEL	A	A	-	rs71104976		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr3:84741480delA	ENST00000484892.1	-	0	2354					NR_033860.1				long intergenic non-protein coding RNA 971																		CCTGTCCCAGAAAAAAAAAAA	0.388																																						ENST00000484892.1																			0																																																			440970							g.chr3:84741480delA			3p12.1	2013-06-07			ENSG00000242641	ENSG00000242641		"""Long non-coding RNAs"""	48737	non-coding RNA	RNA, long non-coding							Standard	NR_033860		Approved				OTTHUMG00000158981		3.37:g.84741480delA								NR_033860.1						0	2354	-									RNA	DEL	ENST00000484892.1	37																																																																																						0.388	LINC00971-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000352776.2			4	4						4	4	---	---	---	---
LEF1	51176	broad.mit.edu	37	4	108985490	108985500	+	Splice_Site	DEL	ACCTGATGCAG	ACCTGATGCAG	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:108985490_108985500delACCTGATGCAG	ENST00000265165.1	-	10	1811_1820	c.1157_1166delCTGCATCAGGT	c.(1156-1167)tctgcatcaggt>tt	p.SASG386fs	LEF1_ENST00000379951.2_Splice_Site_p.SASG358fs|LEF1_ENST00000510624.1_Splice_Site_p.SASG290fs|LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000438313.2_Splice_Site_p.SASG358fs	NM_016269.4	NP_057353.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	386					alpha-beta T cell differentiation (GO:0046632)|anatomical structure regression (GO:0060033)|apoptotic process involved in morphogenesis (GO:0060561)|apoptotic process involved in patterning of blood vessels (GO:1902262)|B cell proliferation (GO:0042100)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|cellular response to cytokine stimulus (GO:0071345)|cellular response to interleukin-4 (GO:0071353)|chorio-allantoic fusion (GO:0060710)|dentate gyrus development (GO:0021542)|embryonic limb morphogenesis (GO:0030326)|epithelial to mesenchymal transition (GO:0001837)|eye pigmentation (GO:0048069)|face morphogenesis (GO:0060325)|forebrain neuroblast division (GO:0021873)|forebrain neuron differentiation (GO:0021879)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|hypothalamus development (GO:0021854)|mammary gland development (GO:0030879)|muscle fiber development (GO:0048747)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic process in bone marrow (GO:0071866)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of DNA binding (GO:0043392)|negative regulation of estrogen receptor binding (GO:0071899)|negative regulation of interleukin-13 production (GO:0032696)|negative regulation of interleukin-4 production (GO:0032713)|negative regulation of interleukin-5 production (GO:0032714)|negative regulation of striated muscle tissue development (GO:0045843)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell migration (GO:0001755)|neutrophil differentiation (GO:0030223)|odontoblast differentiation (GO:0071895)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|paraxial mesoderm formation (GO:0048341)|patterning of blood vessels (GO:0001569)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell cycle process (GO:0090068)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell-cell adhesion (GO:0022407)|regulation of striated muscle tissue development (GO:0016202)|sensory perception of taste (GO:0050909)|somitogenesis (GO:0001756)|sprouting angiogenesis (GO:0002040)|steroid hormone mediated signaling pathway (GO:0043401)|T cell receptor V(D)J recombination (GO:0033153)|T-helper 1 cell differentiation (GO:0045063)|tongue development (GO:0043586)|trachea gland development (GO:0061153)|transcription from RNA polymerase II promoter (GO:0006366)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|C2H2 zinc finger domain binding (GO:0070742)|chromatin binding (GO:0003682)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|enhancer binding (GO:0035326)|estrogen receptor activity (GO:0030284)|estrogen receptor binding (GO:0030331)|gamma-catenin binding (GO:0045295)|histone binding (GO:0042393)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CATGGTGCCTACCTGATGCAGATTCCTGTAG	0.431																																						ENST00000379951.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25						c.e9+1		lymphoid enhancer-binding factor 1																																				SO:0001630	splice_region_variant	51176				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding	g.chr4:108985490_108985500delACCTGATGCAG		CCDS3679.1, CCDS47122.1, CCDS47123.1, CCDS54791.1	4q23-q25	2011-07-08			ENSG00000138795	ENSG00000138795			6551	protein-coding gene	gene with protein product		153245				1783375	Standard	NM_016269		Approved	TCF1ALPHA, TCF10, TCF7L3	uc003hyt.2	Q9UJU2	OTTHUMG00000131809	ENST00000265165.1:c.1165+1CTGCATCAGGT>-	4.37:g.108985490_108985500delACCTGATGCAG						LEF1_ENST00000503879.1_5'UTR|LEF1_ENST00000265165.1_Splice_Site_p.386_splice|LEF1_ENST00000510624.1_Splice_Site_p.290_splice|LEF1_ENST00000438313.2_Splice_Site_p.358_splice	p.358_splice	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000224)	9	2261_2270	-			386					B4DG38|B7Z8E2|E9PDK3|Q3ZCU4|Q9HAZ0	Splice_Site	DEL	ENST00000265165.1	37	c.1081_splice	CCDS3679.1																																																																																				0.431	LEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254749.2		Frame_Shift_Del	8	108						8	108	---	---	---	---
SEC24D	9871	broad.mit.edu	37	4	119659453	119659465	+	Frame_Shift_Del	DEL	TAACATGCCAACA	TAACATGCCAACA	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr4:119659453_119659465delTAACATGCCAACA	ENST00000280551.6	-	19	2685_2697	c.2447_2459delTGTTGGCATGTTA	c.(2446-2460)atgttggcatgttacfs	p.MLACY816fs	SEC24D_ENST00000419654.2_Frame_Shift_Del_p.MLACY372fs|SEC24D_ENST00000511481.1_Frame_Shift_Del_p.MLACY447fs|SEC24D_ENST00000379735.5_Frame_Shift_Del_p.MLACY817fs|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000429811.2_Frame_Shift_Del_p.MLACY372fs			O94855	SC24D_HUMAN	SEC24 family member D	816					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|in utero embryonic development (GO:0001701)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ATTCTTCCGGTAACATGCCAACATATGGGCAGT	0.423																																						ENST00000379735.5																			0				breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						c.(2449-2463)acfs		SEC24 family member D																																				SO:0001589	frameshift_variant	9871				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	g.chr4:119659453_119659465delTAACATGCCAACA	AB018298	CCDS3710.1	4q26	2013-10-21	2013-10-21		ENSG00000150961	ENSG00000150961			10706	protein-coding gene	gene with protein product		607186	"""SEC24 (S. cerevisiae) related gene family, member D"", ""SEC24 family, member D (S. cerevisiae)"""			9872452, 10075675	Standard	NM_014822		Approved	KIAA0755	uc003ici.4	O94855	OTTHUMG00000132957	ENST00000280551.6:c.2447_2459delTGTTGGCATGTTA	4.37:g.119659453_119659465delTAACATGCCAACA	ENSP00000280551:p.Met816fs					SEC24D_ENST00000280551.6_Frame_Shift_Del_p.MLACY816fs|SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000419654.2_Frame_Shift_Del_p.MLACY372fs|SEC24D_ENST00000511481.1_Frame_Shift_Del_p.MLACY447fs|SEC24D_ENST00000429811.2_Frame_Shift_Del_p.MLACY372fs	p.MLACY817fs	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN			19	2721_2733	-			816					Q8IYI7	Frame_Shift_Del	DEL	ENST00000280551.6	37	c.2450_2462delTGTTGGCATGTTA	CCDS3710.1																																																																																				0.423	SEC24D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256514.4			19	98						19	98	---	---	---	---
GFM2	84340	broad.mit.edu	37	5	74026194	74026195	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr5:74026194_74026195insT	ENST00000296805.3	-	17	2073_2074	c.1616_1617insA	c.(1615-1617)catfs	p.H539fs	GFM2_ENST00000509430.1_Frame_Shift_Ins_p.H539fs|GFM2_ENST00000345239.2_Frame_Shift_Ins_p.H492fs|GFM2_ENST00000515125.1_Intron	NM_032380.3	NP_115756.2			G elongation factor, mitochondrial 2											breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TAATCTCTATATGTAACTCCCC	0.386																																						ENST00000296805.3																			0				breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14						c.(1615-1617)catfs		G elongation factor, mitochondrial 2																																				SO:0001589	frameshift_variant	84340				mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity	g.chr5:74026194_74026195insT	AF111808	CCDS4023.1, CCDS4024.1, CCDS47232.1	5q13	2008-02-05			ENSG00000164347	ENSG00000164347			29682	protein-coding gene	gene with protein product		606544				11735030	Standard	NM_001281302		Approved	EFG2, FLJ21661	uc003kdh.1	Q969S9	OTTHUMG00000102058	ENST00000296805.3:c.1617dupA	5.37:g.74026195_74026195dupT	ENSP00000296805:p.His539fs					GFM2_ENST00000515125.1_Intron|GFM2_ENST00000345239.2_Frame_Shift_Ins_p.H492fs|GFM2_ENST00000509430.1_Frame_Shift_Ins_p.H539fs	p.H539fs	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)	17	2073_2074	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)	539						Frame_Shift_Ins	INS	ENST00000296805.3	37	c.1616_1617insA	CCDS4023.1																																																																																				0.386	GFM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219860.2	NM_032380		18	72						18	72	---	---	---	---
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977389	29977393	+	RNA	DEL	CTTCT	CTTCT	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:29977389_29977393delCTTCT	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		AGAACCCTGACTTCTCTTTCTGCAA	0.488																																						ENST00000376797.3																			0																																																			80862							g.chr6:29977389_29977393delCTTCT	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977389_29977393delCTTCT						ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA								0	731	-									RNA	DEL	ENST00000376797.3	37																																																																																						0.488	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		7	66						7	66	---	---	---	---
VWA7	80737	broad.mit.edu	37	6	31736896	31736897	+	Frame_Shift_Ins	INS	-	-	T			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:31736896_31736897insT	ENST00000375688.4	-	10	1601_1602	c.1401_1402insA	c.(1399-1404)ccatacfs	p.Y468fs	VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Frame_Shift_Ins_p.Y468fs|VWA7_ENST00000447450.1_Frame_Shift_Ins_p.Y468fs			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	468	VWFA.					extracellular region (GO:0005576)											ACTGCTTTGTATGGCTCAAAAC	0.55																																						ENST00000375686.3																			0											c.(1399-1404)ccacaafs		von Willebrand factor A domain containing 7																																				SO:0001589	frameshift_variant	80737					extracellular region		g.chr6:31736896_31736897insT		CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.1402dupA	6.37:g.31736897_31736897dupT	ENSP00000364840:p.Tyr468fs					VWA7_ENST00000447450.1_Frame_Shift_Ins_p.Q468fs|VWA7_ENST00000375688.4_Frame_Shift_Ins_p.Q468fs|VWA7_ENST00000467576.1_5'UTR	p.Q468fs	NM_025258.2	NP_079534.2	Q9Y334	G7C_HUMAN			10	1638_1639	-			468					A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Frame_Shift_Ins	INS	ENST00000375688.4	37	c.1401_1402insA	CCDS4721.2																																																																																				0.550	VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258		13	57						13	57	---	---	---	---
MYO6	4646	broad.mit.edu	37	6	76599857	76599858	+	Frame_Shift_Ins	INS	-	-	A	rs551348450	byFrequency	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:76599857_76599858insA	ENST00000369977.3	+	26	2881_2882	c.2742_2743insA	c.(2743-2745)aaafs	p.K915fs	MYO6_ENST00000369975.1_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369981.3_Frame_Shift_Ins_p.K915fs|MYO6_ENST00000369985.4_Frame_Shift_Ins_p.K915fs	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI	915					actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.K917fs*10(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GTGCATTACAGAAAAAAAAACA	0.381													AAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|insertion	18	0.00359425	0.0083	0.0014	5008	,	,		16538	0.0		0.0	False		,,,				2504	0.0061					ENST00000369981.3																			1	Deletion - Frameshift(1)	p.K917fs*10(1)	large_intestine(1)	breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						c.(2740-2745)caaaaafs		myosin VI				9,4255		0,9,2123						5.8	1.0			86	31,8223		0,31,4096	no	frameshift	MYO6	NM_004999.3		0,40,6219	A1A1,A1R,RR		0.3756,0.2111,0.3195				40,12478				SO:0001589	frameshift_variant	4646				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding	g.chr6:76599857_76599858insA	U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.2751dupA	6.37:g.76599866_76599866dupA	ENSP00000358994:p.Lys915fs					MYO6_ENST00000369985.4_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369975.1_Frame_Shift_Ins_p.QK914fs|MYO6_ENST00000369977.3_Frame_Shift_Ins_p.QK914fs	p.QK914fs			Q9UM54	MYO6_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.223)	26	3021_3022	+		all_hematologic(105;0.189)	914					A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Frame_Shift_Ins	INS	ENST00000369977.3	37	c.2742_2743insA	CCDS34487.1																																																																																				0.381	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2	NM_004999		10	90						10	90	---	---	---	---
RNF146	81847	broad.mit.edu	37	6	127608113	127608116	+	Frame_Shift_Del	DEL	GAGC	GAGC	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr6:127608113_127608116delGAGC	ENST00000368314.1	+	3	779_782	c.355_358delGAGC	c.(355-360)gagcgcfs	p.ER119fs	RNF146_ENST00000309649.3_Frame_Shift_Del_p.ER118fs|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000608991.1_Frame_Shift_Del_p.ER118fs|RNF146_ENST00000610153.1_Frame_Shift_Del_p.ER119fs	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	119	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GCAGTACGATGAGCGCACTAGTAG	0.426																																						ENST00000368314.1																			0				endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10						c.(355-360)gcfs		ring finger protein 146																																				SO:0001589	frameshift_variant	81847				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:127608113_127608116delGAGC	AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.355_358delGAGC	6.37:g.127608113_127608116delGAGC	ENSP00000357297:p.Glu119fs					RNF146_ENST00000356799.2_Frame_Shift_Del_p.ER118fs|RNF146_ENST00000309649.3_Frame_Shift_Del_p.ER118fs	p.ER119fs	NM_001242849.1|NM_001242850.1|NM_001242851.1	NP_001229778.1|NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN		GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)	3	779_782	+			119			WWE.		E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Frame_Shift_Del	DEL	ENST00000368314.1	37	c.355_358delGAGC	CCDS56449.1																																																																																				0.426	RNF146-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042112.1	NM_030963		21	105						21	105	---	---	---	---
DPY19L2P2	349152	broad.mit.edu	37	7	102874213	102874214	+	RNA	INS	-	-	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr7:102874213_102874214insA	ENST00000312132.4	-	0	3031							Q6ZN68	D19P2_HUMAN	DPY19L2 pseudogene 2							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										TTTGGCAGTTTAAAAAAACCCA	0.312																																						ENST00000312132.4																			0																																																			349152							g.chr7:102874213_102874214insA	AL834175		7q22.1	2013-09-12	2013-09-12		ENSG00000170629	ENSG00000170629			21764	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 2 (C. elegans)"""				Standard	NR_027768		Approved	DKFZp434E092, FLJ36166	uc003vbh.4	Q6ZN68	OTTHUMG00000157200		7.37:g.102874220_102874220dupA														0	3031	-								Q8N9V4|Q8ND62	RNA	INS	ENST00000312132.4	37																																																																																						0.312	DPY19L2P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347877.1	NM_182634		9	11						9	11	---	---	---	---
IMPAD1	54928	broad.mit.edu	37	8	57892606	57892625	+	Frame_Shift_Del	DEL	GTGTAGCATCAAGTGGGTCA	GTGTAGCATCAAGTGGGTCA	-	rs387907101		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr8:57892606_57892625delGTGTAGCATCAAGTGGGTCA	ENST00000262644.4	-	2	777_796	c.519_538delTGACCCACTTGATGCTACAC	c.(517-540)attgacccacttgatgctacacagfs	p.DPLDATQ174fs		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	174					chondrocyte development (GO:0002063)|chondroitin sulfate metabolic process (GO:0030204)|embryonic digit morphogenesis (GO:0042733)|endochondral ossification (GO:0001958)|inositol biosynthetic process (GO:0006021)|phosphatidylinositol phosphorylation (GO:0046854)|post-embryonic development (GO:0009791)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	3'(2'),5'-bisphosphate nucleotidase activity (GO:0008441)|3'-nucleotidase activity (GO:0008254)|inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTATATTCCTGTGTAGCATCAAGTGGGTCAATCCAGACAG	0.391																																						ENST00000262644.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						c.(517-540)atagfs		inositol monophosphatase domain containing 1																																				SO:0001589	frameshift_variant	54928					Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding	g.chr8:57892606_57892625delGTGTAGCATCAAGTGGGTCA		CCDS6169.1	8q12.1	2013-05-16			ENSG00000104331	ENSG00000104331			26019	protein-coding gene	gene with protein product		614010				21549340	Standard	NM_017813		Approved	FLJ20421, IMPA3, gPAPP	uc003xte.4	Q9NX62	OTTHUMG00000164415	ENST00000262644.4:c.519_538delTGACCCACTTGATGCTACAC	8.37:g.57892606_57892625delGTGTAGCATCAAGTGGGTCA	ENSP00000262644:p.Asp174fs						p.IDPLDATQ173fs	NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN			2	777_796	-		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)	173					Q6NVY7	Frame_Shift_Del	DEL	ENST00000262644.4	37	c.519_538delTGACCCACTTGATGCTACAC	CCDS6169.1																																																																																				0.391	IMPAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378665.1	NM_017813		9	86						9	86	---	---	---	---
CHD8	57680	broad.mit.edu	37	14	21861798	21861799	+	Frame_Shift_Ins	INS	-	-	G			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:21861798_21861799insG	ENST00000557364.1	-	32	6418_6419	c.6155_6156insC	c.(6154-6156)cctfs	p.P2052fs	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Frame_Shift_Ins_p.P2052fs|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Frame_Shift_Ins_p.P1773fs			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2052					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GGGAAACCAGAGGGGTAGTATC	0.53																																						ENST00000399982.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(6154-6156)cctfs		chromodomain helicase DNA binding protein 8																																				SO:0001589	frameshift_variant	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21861798_21861799insG	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6156dupC	14.37:g.21861802_21861802dupG	ENSP00000451601:p.Pro2052fs					CHD8_ENST00000430710.3_Frame_Shift_Ins_p.P1773fs|CHD8_ENST00000557364.1_Frame_Shift_Ins_p.P2052fs	p.P2052fs	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	31	6219_6220	-	all_cancers(95;0.00121)		2052					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Frame_Shift_Ins	INS	ENST00000557364.1	37	c.6155_6156insC	CCDS53885.1																																																																																				0.530	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		13	52						13	52	---	---	---	---
GMPR2	51292	broad.mit.edu	37	14	24704944	24704945	+	Splice_Site	DEL	TC	TC	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr14:24704944_24704945delTC	ENST00000355299.4	+	4	670_671	c.209_210delTC	c.(208-210)ttc>t	p.F70fs	GMPR2_ENST00000348719.7_Splice_Site_p.F70fs|GMPR2_ENST00000420554.2_Splice_Site_p.F88fs|GMPR2_ENST00000456667.3_Intron|GMPR2_ENST00000559836.1_Splice_Site_p.F70fs|GMPR2_ENST00000559910.1_Splice_Site_p.F70fs|GMPR2_ENST00000557854.1_Splice_Site_p.F88fs|GMPR2_ENST00000559104.1_Splice_Site_p.F88fs|GMPR2_ENST00000399440.2_Splice_Site_p.F70fs	NM_001002000.1	NP_001002000.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	70					GMP metabolic process (GO:0046037)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|GMP reductase complex (GO:1902560)	GMP reductase activity (GO:0003920)|metal ion binding (GO:0046872)			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		TCTCCCCAGTTCTCTCTCTTCA	0.446																																						ENST00000557854.1																			0				large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12						c.e3-1		guanosine monophosphate reductase 2																																				SO:0001630	splice_region_variant	51292				nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding	g.chr14:24704944_24704945delTC		CCDS41935.1, CCDS45087.1, CCDS61419.1, CCDS73624.1	14q11.2	2006-11-24							4377	protein-coding gene	gene with protein product		610781					Standard	XM_005267742		Approved		uc001wnw.3	Q9P2T1		ENST00000355299.4:c.208-1TC>-	14.37:g.24704950_24704951delTC						GMPR2_ENST00000348719.7_Splice_Site_p.F70_splice|GMPR2_ENST00000559104.1_Splice_Site_p.F88_splice|GMPR2_ENST00000399440.2_Splice_Site_p.F70_splice|GMPR2_ENST00000559910.1_Splice_Site_p.F70_splice|GMPR2_ENST00000559836.1_Splice_Site_p.F70_splice|GMPR2_ENST00000420554.2_Splice_Site_p.F88_splice|GMPR2_ENST00000456667.3_Intron|GMPR2_ENST00000355299.4_Splice_Site_p.F70_splice	p.F88_splice			Q9P2T1	GMPR2_HUMAN		GBM - Glioblastoma multiforme(265;0.0181)	3	540_541	+			70					D3DS66|Q567T0|Q6IAJ8|Q86T14	Splice_Site	DEL	ENST00000355299.4	37	c.261_splice	CCDS41935.1																																																																																				0.446	GMPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415821.2	NM_016576	Frame_Shift_Del	25	148						25	148	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974510	93974510	+	lincRNA	DEL	C	C	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr15:93974510delC	ENST00000543286.1	+	0	545																											TGGCTGGGTTCtttttttttt	0.433																																						ENST00000543286.1																			0																																																			0							g.chr15:93974510delC																													15.37:g.93974510delC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.433	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			10	40						10	40	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577568	7577568	+	Frame_Shift_Del	DEL	C	C	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:7577568delC	ENST00000269305.4	-	7	902	c.713delG	c.(712-714)tgtfs	p.C238fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C238fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGAACTGTTACACATGTAGTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		158	Substitution - Missense(131)|Deletion - In frame(10)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(4)	p.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(1)	breast(22)|ovary(17)|large_intestine(14)|haematopoietic_and_lymphoid_tissue(13)|endometrium(13)|lung(12)|upper_aerodigestive_tract(9)|pancreas(8)|soft_tissue(7)|urinary_tract(7)|oesophagus(7)|biliary_tract(6)|central_nervous_system(6)|liver(5)|bone(5)|stomach(4)|skin(2)|meninges(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM034930	TP53	M		c.(712-714)ttfs	Other conserved DNA damage response genes	tumor protein p53							132.0	103.0	113.0					17																	7577568		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577568delC	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.713delG	17.37:g.7577568delC	ENSP00000269305:p.Cys238fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000269305.4_Frame_Shift_Del_p.C238fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.C238fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.C238fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.C238fs	p.C238fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	845	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	238		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.713delG	CCDS11118.1																																																																																				0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		24	46						24	46	---	---	---	---
RP11-160E2.17	0	broad.mit.edu	37	17	18988562	18988562	+	lincRNA	DEL	T	T	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:18988562delT	ENST00000442355.2	+	0	272																											CTGATGTGTGTTTTTTTTTTT	0.279																																						ENST00000442355.2																			0																																																			0							g.chr17:18988562delT																													17.37:g.18988562delT														0	272	+									RNA	DEL	ENST00000442355.2	37																																																																																						0.279	RP11-160E2.17-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441117.1			3	6						3	6	---	---	---	---
ABCA5	23461	broad.mit.edu	37	17	67304439	67304440	+	Frame_Shift_Ins	INS	-	-	A			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr17:67304439_67304440insA	ENST00000392676.3	-	5	603_604	c.539_540insT	c.(538-540)atafs	p.I180fs	ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.I180fs|ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.I180fs			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	180					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TGGCAGCATCTATGGATGCTTG	0.342																																						ENST00000392676.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54						c.(538-540)agafs		ATP-binding cassette, sub-family A (ABC1), member 5																																				SO:0001589	frameshift_variant	23461				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity	g.chr17:67304439_67304440insA	U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.540dupT	17.37:g.67304440_67304440dupA	ENSP00000376443:p.Ile180fs					ABCA5_ENST00000392677.2_Frame_Shift_Ins_p.R180fs|ABCA5_ENST00000588877.1_Frame_Shift_Ins_p.R180fs	p.R180fs			Q8WWZ7	ABCA5_HUMAN			5	603_604	-	Breast(10;3.72e-11)		180					Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Frame_Shift_Ins	INS	ENST00000392676.3	37	c.539_540insT	CCDS11685.1																																																																																				0.342	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000450654.1	NM_018672		45	217						45	217	---	---	---	---
MYO5B	4645	broad.mit.edu	37	18	47479679	47479679	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chr18:47479679delT	ENST00000285039.7	-	14	2002	c.1703delA	c.(1702-1704)aacfs	p.N568fs		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	568	Myosin motor.				endosome localization (GO:0032439)|metabolic process (GO:0008152)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)|vesicle-mediated transport (GO:0016192)|water transport (GO:0006833)	apical cortex (GO:0045179)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|protein complex (GO:0043234)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)|Rab GTPase binding (GO:0017137)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CGTGTCTCTGTTTTTCTCCAG	0.512																																						ENST00000285039.7																			0				NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87						c.(1702-1704)acfs		myosin VB							125.0	121.0	122.0					18																	47479679		1970	4153	6123	SO:0001589	frameshift_variant	4645				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	g.chr18:47479679delT	AB032945	CCDS42436.1	18q	2011-09-27			ENSG00000167306	ENSG00000167306		"""Myosins / Myosin superfamily : Class V"""	7603	protein-coding gene	gene with protein product		606540				8884266, 17462998	Standard	NM_001080467		Approved	KIAA1119	uc002leb.2	Q9ULV0		ENST00000285039.7:c.1703delA	18.37:g.47479679delT	ENSP00000285039:p.Asn568fs						p.N568fs	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN		READ - Rectum adenocarcinoma(32;0.103)	14	2002	-			568			Myosin head-like.		B0I1R3|Q0P656|Q9H6Y6	Frame_Shift_Del	DEL	ENST00000285039.7	37	c.1703delA	CCDS42436.1																																																																																				0.512	MYO5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448515.2			41	61						41	61	---	---	---	---
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	lincRNA	INS	-	-	A	rs397771084|rs58093396		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174				MIR374A_ENST00000362298.1_RNA|MIR545_ENST00000385085.1_RNA					FTX transcript, XIST regulator (non-protein coding)																		acctgtcccttaaaaaaaaaaa	0.455													|||unknown(HR)	2504	0.663311	0.4841	0.4856	3775	,	,		12960	0.5714		0.5	False		,,,				2504	0.4581					ENST00000429124.1																			0																																																			100302692							g.chrX:73506653_73506654insA	AK057701		Xq13.2	2013-12-18	2011-04-21	2011-04-21	ENSG00000230590	ENSG00000230590		"""Long non-coding RNAs"", ""-"""	37190	non-coding RNA	RNA, long non-coding	"""five prime to XIST"""		"""non-protein coding RNA 182"", ""mir-374a-545 cluster host gene (non-protein coding)"""	NCRNA00182, MIR374AHG		12045143, 21254562, 21118898	Standard	NR_028379		Approved	LINC00182, FLJ33139	uc010nlq.1		OTTHUMG00000021850		X.37:g.73506664_73506664dupA														0	174	-									RNA	INS	ENST00000429124.1	37																																																																																						0.455	FTX-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000057255.2	NR_028379		4	2						4	2	---	---	---	---
MAGEC1	9947	broad.mit.edu	37	X	140994638	140994640	+	In_Frame_Del	DEL	GCT	GCT	-	rs372076984|rs144357389		TCGA-P3-A6T7-01A-11D-A34J-08	TCGA-P3-A6T7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e651382-e28e-459c-9c96-796eb5bc714c	f5db598d-2bc7-4b41-af84-47bf5309f13a	g.chrX:140994638_140994640delGCT	ENST00000285879.4	+	4	1734_1736	c.1448_1450delGCT	c.(1447-1452)agctcc>acc	p.483_484SS>T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCTGTGAGCTCCTCCTCCTC	0.473										HNSCC(15;0.026)																												ENST00000285879.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127						c.(1447-1452)acc>a		melanoma antigen family C, 1																																				SO:0001651	inframe_deletion	9947						protein binding	g.chrX:140994638_140994640delGCT	AF064589	CCDS35417.1	Xq26	2009-03-18			ENSG00000155495	ENSG00000155495			6812	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 1"""	300223				9485030, 9618514	Standard	NM_005462		Approved	MAGE-C1, CT7, MGC39366, CT7.1	uc004fbt.3	O60732	OTTHUMG00000022569	ENST00000285879.4:c.1448_1450delGCT	X.37:g.140994638_140994640delGCT	ENSP00000285879:p.Ser483_Ser484delinsThr	HNSCC(15;0.026)				MAGEC1_ENST00000406005.2_Intron	p.SS487del	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN			4	1734_1736	+	Acute lymphoblastic leukemia(192;6.56e-05)		487					A0PK03|O75451|Q8TCV4	In_Frame_Del	DEL	ENST00000285879.4	37	c.1448_1450delGCT	CCDS35417.1																																																																																				0.473	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058604.1	NM_005462		10	100						10	100	---	---	---	---
