#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
PRRC2A	7916	broad.mit.edu	37	6	31599370	31599370	+	Missense_Mutation	SNP	G	G	C	rs115591494	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:31599370G>C	ENST00000376033.2	+	16	3154	c.2920G>C	c.(2920-2922)Gaa>Caa	p.E974Q	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E974Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	974	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						ACAGGGGGATGAAACCCCCAA	0.612													G|||	23	0.00459265	0.0091	0.0072	5008	,	,		13007	0.003		0.002	False		,,,				2504	0.001					ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(2920-2922)Gaa>Caa		proline-rich coiled-coil 2A		G	GLN/GLU,GLN/GLU	13,2987		0,13,1487	16.0	19.0	18.0		2920,2920	5.2	1.0	6	dbSNP_132	18	9,5401		0,9,2696	yes	missense,missense	PRRC2A	NM_004638.3,NM_080686.2	29,29	0,22,4183	CC,CG,GG		0.1664,0.4333,0.2616	probably-damaging,probably-damaging	974/2158,974/2158	31599370	22,8388	1500	2705	4205	SO:0001583	missense	7916					cytoplasm|nucleus	protein binding	g.chr6:31599370G>C	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2920G>C	6.37:g.31599370G>C	ENSP00000365201:p.Glu974Gln					PRRC2A_ENST00000376007.4_Missense_Mutation_p.E974Q	p.E974Q	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			16	3154	+			974			4 X 57 AA type A repeats.		B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	ENST00000376033.2	37	c.2920G>C	CCDS4708.1	12	0.005494505494505495	7	0.014227642276422764	2	0.0055248618784530384	2	0.0034965034965034965	1	0.0013192612137203166	G	7.968	0.748550	0.15710	0.004333	0.001664	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.15718	2.4;2.4	5.2	5.2	0.72013	.	0.109263	0.41001	D	0.000980	T	0.06645	0.0170	N	0.19112	0.55	0.38742	D	0.953902	P	0.42827	0.791	B	0.35240	0.198	T	0.12293	-1.0553	10	0.87932	D	0	-7.3324	17.6776	0.88235	0.0:0.0:1.0:0.0	.	974	P48634	PRC2A_HUMAN	Q	974;963;974;974;199	ENSP00000365175:E974Q;ENSP00000365201:E974Q	ENSP00000365175:E974Q	E	+	1	0	PRRC2A	31707349	1.000000	0.71417	0.997000	0.53966	0.597000	0.36814	4.930000	0.63462	2.722000	0.93159	0.655000	0.94253	GAA		0.612	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		22	249	0	0	0	1	0	22	249				
ZNF749	388567	broad.mit.edu	37	19	57955885	57955885	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:57955885C>G	ENST00000334181.4	+	3	1619	c.1369C>G	c.(1369-1371)Cag>Gag	p.Q457E	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	457					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q457E(1)|p.Q370E(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		AGTTCAGCACCAGAAAATCCA	0.423																																						ENST00000334181.4																			2	Substitution - Missense(2)	p.Q457E(1)|p.Q370E(1)	endometrium(2)	breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1369-1371)Cag>Gag		zinc finger protein 749							92.0	89.0	90.0					19																	57955885		2203	4300	6503	SO:0001583	missense	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955885C>G	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1369C>G	19.37:g.57955885C>G	ENSP00000333980:p.Gln457Glu					AC004076.9_ENST00000596831.1_Intron	p.Q457E	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1619	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	457						Missense_Mutation	SNP	ENST00000334181.4	37	c.1369C>G	CCDS33132.2	.	.	.	.	.	.	.	.	.	.	C	10.65	1.410685	0.25465	.	.	ENSG00000186230	ENST00000334181	T	0.07327	3.2	1.62	0.523	0.17060	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06826	0.0174	L	0.38649	1.16	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.33904	-0.9850	9	0.52906	T	0.07	.	5.9852	0.19430	0.5886:0.4114:0.0:0.0	.	457	O43361	ZN749_HUMAN	E	457	ENSP00000333980:Q457E	ENSP00000333980:Q457E	Q	+	1	0	ZNF749	62647697	.	.	0.001000	0.08648	0.750000	0.42670	.	.	0.202000	0.20498	0.650000	0.86243	CAG		0.423	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		7	327	0	0	0	1	0	7	327				
CFHR5	81494	broad.mit.edu	37	1	196952162	196952162	+	Missense_Mutation	SNP	G	G	A	rs375843181		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:196952162G>A	ENST00000256785.4	+	2	315	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CFHR5_ENST00000367414.5_Missense_Mutation_p.R93H			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	69	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)		p.R69H(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TTTTGGACTCGCATAACATGC	0.393																																						ENST00000367414.5																			1	Substitution - Missense(1)	p.R69H(1)	prostate(1)	NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						c.(277-279)cGc>cAc		complement factor H-related 5		G	HIS/ARG	1,4405		0,1,2202	117.0	105.0	109.0		206	-4.1	0.0	1		109	0,8600		0,0,4300	no	missense	CFHR5	NM_030787.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	69/570	196952162	1,13005	2203	4300	6503	SO:0001583	missense	81494				complement activation, alternative pathway	extracellular region		g.chr1:196952162G>A	AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.206G>A	1.37:g.196952162G>A	ENSP00000256785:p.Arg69His					CFHR5_ENST00000256785.4_Missense_Mutation_p.R69H	p.R93H	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN			2	334	+			69			Sushi 2.		Q2NKK2	Missense_Mutation	SNP	ENST00000256785.4	37	c.278G>A	CCDS1387.1	.	.	.	.	.	.	.	.	.	.	.	11.96	1.794607	0.31777	2.27E-4	0.0	ENSG00000134389	ENST00000367414;ENST00000256785	T;T	0.64803	-0.12;-0.12	2.45	-4.13	0.03904	Complement control module (2);Sushi/SCR/CCP (2);	.	.	.	.	T	0.45296	0.1335	L	0.46157	1.445	0.09310	N	1	B	0.25521	0.128	B	0.20955	0.032	T	0.24728	-1.0152	9	0.31617	T	0.26	.	4.0223	0.09672	0.3876:0.3452:0.2672:0.0	.	69	Q9BXR6	FHR5_HUMAN	H	93;69	ENSP00000356384:R93H;ENSP00000256785:R69H	ENSP00000256785:R69H	R	+	2	0	CFHR5	195218785	0.000000	0.05858	0.002000	0.10522	0.603000	0.37013	-2.581000	0.00906	-1.048000	0.03238	0.305000	0.20034	CGC		0.393	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088814.2	NM_030787		5	402	0	0	0	1	0	5	402				
MUC21	394263	broad.mit.edu	37	6	30954482	30954482	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:30954482C>T	ENST00000376296.3	+	2	771	c.530C>T	c.(529-531)gCc>gTc	p.A177V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	177	28 X 15 AA approximate tandem repeats.|Ser-rich.				cellular protein metabolic process (GO:0044267)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of cell-substrate adhesion (GO:0010812)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCAGTGGGGCCAGCACAGCC	0.617																																						ENST00000376296.3																			0				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						c.(529-531)gCc>gTc		mucin 21, cell surface associated							146.0	140.0	142.0					6																	30954482		2202	4299	6501	SO:0001583	missense	394263					integral to membrane|plasma membrane		g.chr6:30954482C>T	AK056612	CCDS34388.1	6p21.33	2008-05-14	2008-05-14	2008-05-14	ENSG00000204544	ENSG00000204544		"""Mucins"""	21661	protein-coding gene	gene with protein product	"""epiglycanin"""		"""chromosome 6 open reading frame 205"""	C6orf205		17977904	Standard	NM_001010909		Approved	bCX31G15.2	uc003nsh.2	Q5SSG8	OTTHUMG00000031216	ENST00000376296.3:c.530C>T	6.37:g.30954482C>T	ENSP00000365473:p.Ala177Val					MUC21_ENST00000486149.2_5'UTR	p.A177V	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN			2	771	+			177			28 X 15 AA approximate tandem repeats.|Ser-rich.		B0UZT7|B4DQ55|C9JMK2|D9N007|Q0VGF1|Q3B7T2|Q5SS94|Q6UXC5	Missense_Mutation	SNP	ENST00000376296.3	37	c.530C>T	CCDS34388.1	.	.	.	.	.	.	.	.	.	.	C	10.62	1.402265	0.25291	.	.	ENSG00000204544	ENST00000450707;ENST00000376296	T	0.04119	3.7	3.72	0.204	0.15199	.	.	.	.	.	T	0.00608	0.0020	N	0.08118	0	0.09310	N	0.999992	B	0.02656	0.0	B	0.04013	0.001	T	0.46735	-0.9170	8	.	.	.	-0.0142	3.1413	0.06456	0.1942:0.5248:0.0:0.281	.	177	Q5SSG8	MUC21_HUMAN	V	177	ENSP00000365473:A177V	.	A	+	2	0	MUC21	31062461	0.000000	0.05858	0.003000	0.11579	0.006000	0.05464	-0.116000	0.10724	-0.105000	0.12132	-0.440000	0.05779	GCC		0.617	MUC21-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000128579.3	NM_001010909		15	2310	0	0	0	1	0	15	2310				
NNT	23530	broad.mit.edu	37	5	43649279	43649279	+	Missense_Mutation	SNP	C	C	T	rs547961335		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:43649279C>T	ENST00000264663.5	+	11	1696	c.1475C>T	c.(1474-1476)gCg>gTg	p.A492V	NNT_ENST00000512996.2_Missense_Mutation_p.A361V|NNT_ENST00000344920.4_Missense_Mutation_p.A492V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	492					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					TTGGGCATTGCGGCTCCCAAT	0.488													C|||	1	0.000199681	0.0	0.0	5008	,	,		19479	0.001		0.0	False		,,,				2504	0.0					ENST00000264663.5																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(1474-1476)gCg>gTg		nicotinamide nucleotide transhydrogenase	NADH(DB00157)						354.0	331.0	339.0					5																	43649279		2203	4300	6503	SO:0001583	missense	23530				tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding	g.chr5:43649279C>T	U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1475C>T	5.37:g.43649279C>T	ENSP00000264663:p.Ala492Val					NNT_ENST00000512996.2_Missense_Mutation_p.A361V|NNT_ENST00000344920.4_Missense_Mutation_p.A492V	p.A492V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN			11	1696	+	Lung NSC(6;2.58e-06)		492					Q16796|Q2TB60|Q8N3V4	Missense_Mutation	SNP	ENST00000264663.5	37	c.1475C>T	CCDS3949.1	.	.	.	.	.	.	.	.	.	.	C	0.847	-0.740067	0.03088	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	D;D;D	0.95518	-3.73;-3.73;-3.6	5.24	-4.94	0.03057	.	1.903540	0.01968	N	0.043872	D	0.87744	0.6254	N	0.04320	-0.23	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.79603	-0.1735	10	0.12103	T	0.63	2.9597	14.874	0.70481	0.0:0.3149:0.0:0.6851	.	492	Q13423	NNTM_HUMAN	V	492;492;361	ENSP00000264663:A492V;ENSP00000343873:A492V;ENSP00000426343:A361V	ENSP00000264663:A492V	A	+	2	0	NNT	43685036	0.000000	0.05858	0.000000	0.03702	0.338000	0.28826	-1.492000	0.02300	-0.937000	0.03719	-0.794000	0.03295	GCG		0.488	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214026.1	NM_182977		9	1132	0	0	0	1	0	9	1132				
ADAMTS18	170692	broad.mit.edu	37	16	77317858	77317858	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:77317858T>C	ENST00000282849.5	-	23	4079	c.3661A>G	c.(3661-3663)Atc>Gtc	p.I1221V	RP11-538I12.3_ENST00000561672.1_RNA	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	1221	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				eye development (GO:0001654)|negative regulation of platelet aggregation (GO:0090331)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CAAGATCAGATCTTCCTTGTG	0.512																																						ENST00000282849.5																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						c.(3661-3663)Atc>Gtc		ADAM metallopeptidase with thrombospondin type 1 motif, 18							191.0	155.0	167.0					16																	77317858		2198	4300	6498	SO:0001583	missense	170692				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr16:77317858T>C	AJ311903	CCDS10926.1	16q23	2008-07-29	2005-08-19		ENSG00000140873	ENSG00000140873		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17110	protein-coding gene	gene with protein product		607512	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 18"""	ADAMTS21		11867212, 17546048	Standard	NM_199355		Approved		uc002ffc.4	Q8TE60	OTTHUMG00000137619	ENST00000282849.5:c.3661A>G	16.37:g.77317858T>C	ENSP00000282849:p.Ile1221Val					RP11-538I12.3_ENST00000561672.1_RNA	p.I1221V	NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN			23	4079	-			1221			PLAC.		Q6P4R5|Q6ZWJ9	Missense_Mutation	SNP	ENST00000282849.5	37	c.3661A>G	CCDS10926.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.199573	0.58126	.	.	ENSG00000140873	ENST00000282849	T	0.59083	0.29	5.82	5.82	0.92795	PLAC (1);	0.342462	0.35320	N	0.003290	T	0.40595	0.1123	N	0.08118	0	0.34873	D	0.743774	B	0.16396	0.017	B	0.15870	0.014	T	0.51545	-0.8692	10	0.87932	D	0	.	15.3675	0.74535	0.0:0.0:0.0:1.0	.	1221	Q8TE60	ATS18_HUMAN	V	1221	ENSP00000282849:I1221V	ENSP00000282849:I1221V	I	-	1	0	ADAMTS18	75875359	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	5.218000	0.65257	2.225000	0.72522	0.533000	0.62120	ATC		0.512	ADAMTS18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269037.1			15	267	0	0	0	1	0	15	267				
PLEKHA8P1	51054	broad.mit.edu	37	12	45568140	45568140	+	RNA	SNP	T	T	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:45568140T>C	ENST00000256692.5	-	0	545					NR_037144.1		O95397	PKHA9_HUMAN	pleckstrin homology domain containing, family A member 8 pseudogene 1							cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGTCTTAGTTCTGACATTT	0.448																																						ENST00000256692.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26															154.0	149.0	151.0					12																	45568140		2203	4300	6503			0							g.chr12:45568140T>C	AF103731		12q12	2010-11-24	2010-11-24	2010-11-24	ENSG00000134297	ENSG00000134297			30222	pseudogene	pseudogene	"""putative glycolipid transfer protein"""		"""pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 9"""	PLEKHA9		12477932	Standard	NR_037144		Approved	FLJ14156	uc001rom.2	O95397			12.37:g.45568140T>C								NR_037144.1						0	545	-									RNA	SNP	ENST00000256692.5	37																																																																																						0.448	PLEKHA8P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000404814.1	NR_037144		96	607	0	0	0	1	0	96	607				
AC015849.16	0	broad.mit.edu	37	17	34236101	34236101	+	lincRNA	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:34236101C>T	ENST00000587132.1	-	0	1926																											AATACACAGGCGGTTGAGCTA	0.507																																						ENST00000587132.1																			0																																																			0							g.chr17:34236101C>T																													17.37:g.34236101C>T														0	1926	-									RNA	SNP	ENST00000587132.1	37																																																																																						0.507	AC015849.16-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000449325.1			18	77	0	0	0	1	0	18	77				
PROX1	5629	broad.mit.edu	37	1	214171246	214171246	+	Silent	SNP	C	C	T	rs530123487		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:214171246C>T	ENST00000366958.4	+	2	1976	c.1368C>T	c.(1366-1368)gcC>gcT	p.A456A	PROX1_ENST00000435016.1_Silent_p.A456A|PROX1_ENST00000498508.2_Silent_p.A456A|PROX1_ENST00000261454.4_Silent_p.A456A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	456				PAA -> LV (in Ref. 1; AAC50656). {ECO:0000305}.	aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CCGGCCCTGCCGCTGGCGGCC	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		15771	0.0		0.0	False		,,,				2504	0.0					ENST00000366958.4																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47						c.(1366-1368)gcC>gcT		prospero homeobox 1							60.0	73.0	68.0					1																	214171246		2203	4300	6503	SO:0001819	synonymous_variant	5629				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding	g.chr1:214171246C>T	U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1368C>T	1.37:g.214171246C>T						PROX1_ENST00000261454.4_Silent_p.A456A|PROX1_ENST00000435016.1_Silent_p.A456A|PROX1_ENST00000498508.2_Silent_p.A456A	p.A456A	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)	2	1976	+			456	PAA -> LV (in Ref. 1; AAC50656).				A6NK29|A8K2B1|Q5SW76|Q8TB91	Silent	SNP	ENST00000366958.4	37	c.1368C>T	CCDS31021.1																																																																																				0.642	PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763		5	431	0	0	0	1	0	5	431				
REV1	51455	broad.mit.edu	37	2	100027216	100027216	+	Silent	SNP	A	A	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:100027216A>C	ENST00000258428.3	-	14	2514	c.2286T>G	c.(2284-2286)ccT>ccG	p.P762P	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Silent_p.P761P	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	762					DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGGAGCCCCAGGCTTTCGTA	0.398								Direct reversal of damage																														ENST00000258428.3																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(2284-2286)ccT>ccG	Direct reversal of damage	REV1, polymerase (DNA directed)							123.0	116.0	119.0					2																	100027216		2203	4300	6503	SO:0001819	synonymous_variant	51455				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	g.chr2:100027216A>C	AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.2286T>G	2.37:g.100027216A>C						REV1_ENST00000393445.3_Silent_p.P761P|REV1_ENST00000465835.1_5'UTR	p.P762P	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN			14	2514	-			762					O95941|Q53SI7|Q9C0J4|Q9NUP2	Silent	SNP	ENST00000258428.3	37	c.2286T>G	CCDS2045.1																																																																																				0.398	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253123.2	NM_016316		100	401	0	0	0	1	0	100	401				
CCDC69	26112	broad.mit.edu	37	5	150584969	150584969	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:150584969C>G	ENST00000355417.2	-	2	290	c.116G>C	c.(115-117)gGg>gCg	p.G39A	CCDC69_ENST00000521308.1_Intron	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	39										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGTGTCCCCATTGAGGGG	0.517																																						ENST00000355417.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9						c.(115-117)gGg>gCg		coiled-coil domain containing 69							142.0	138.0	139.0					5																	150584969		2203	4300	6503	SO:0001583	missense	26112							g.chr5:150584969C>G		CCDS4312.1	5q33.1	2008-02-05			ENSG00000198624	ENSG00000198624			24487	protein-coding gene	gene with protein product						12477932	Standard	NM_015621		Approved	FLJ13705, DKFZP434C171	uc011dcq.3	A6NI79	OTTHUMG00000130127	ENST00000355417.2:c.116G>C	5.37:g.150584969C>G	ENSP00000347586:p.Gly39Ala					CCDC69_ENST00000521308.1_Intron	p.G39A	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		2	290	-		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	39					A8K9X6	Missense_Mutation	SNP	ENST00000355417.2	37	c.116G>C	CCDS4312.1	.	.	.	.	.	.	.	.	.	.	C	16.48	3.135710	0.56828	.	.	ENSG00000198624	ENST00000355417	T	0.22134	1.97	4.32	-1.51	0.08664	.	1.518870	0.03672	N	0.244161	T	0.13586	0.0329	L	0.27053	0.805	0.09310	N	1	B	0.21606	0.058	B	0.22601	0.04	T	0.26155	-1.0111	10	0.07990	T	0.79	-0.9078	7.9535	0.30029	0.0:0.3237:0.0:0.6763	.	39	A6NI79	CCD69_HUMAN	A	39	ENSP00000347586:G39A	ENSP00000347586:G39A	G	-	2	0	CCDC69	150565162	0.002000	0.14202	0.007000	0.13788	0.986000	0.74619	-0.301000	0.08232	-0.179000	0.10654	0.555000	0.69702	GGG		0.517	CCDC69-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252435.1	NM_015621		52	174	0	0	0	1	0	52	174				
NOD2	64127	broad.mit.edu	37	16	50745137	50745137	+	Missense_Mutation	SNP	C	C	T	rs375201229		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:50745137C>T	ENST00000300589.2	+	4	1420	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	439	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GAAGTACATCCGCACCGAGTT	0.622																																						ENST00000300589.2																			0				cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52						c.(1315-1317)Cgc>Tgc		nucleotide-binding oligomerization domain containing 2		C	CYS/ARG	0,4396		0,0,2198	54.0	58.0	56.0		1315	3.2	0.0	16		56	1,8599	1.2+/-3.3	0,1,4299	no	missense	NOD2	NM_022162.1	180	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	benign	439/1041	50745137	1,12995	2198	4300	6498	SO:0001583	missense	64127				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding	g.chr16:50745137C>T	AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1315C>T	16.37:g.50745137C>T	ENSP00000300589:p.Arg439Cys						p.R439C	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN			4	1420	+		all_cancers(37;0.0156)	439			NACHT.		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	c.1315C>T	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	7.462	0.644800	0.14451	0.0	1.16E-4	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.79033	-1.23	5.26	3.25	0.37280	.	0.304254	0.28871	N	0.013868	T	0.72867	0.3514	M	0.65975	2.015	0.39682	D	0.97091	B;B;B	0.21606	0.05;0.058;0.046	B;B;B	0.21151	0.02;0.033;0.027	T	0.68880	-0.5292	10	0.54805	T	0.06	.	8.3773	0.32451	0.0:0.792:0.0:0.208	.	223;412;439	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	C	412;439	ENSP00000300589:R439C	ENSP00000300589:R439C	R	+	1	0	NOD2	49302638	0.028000	0.19301	0.001000	0.08648	0.212000	0.24457	0.734000	0.26101	0.562000	0.29204	0.561000	0.74099	CGC		0.622	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2	NM_022162		78	243	0	0	0	1	0	78	243				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C														0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	178	0	0	0	1	0	4	178				
TMEM26	219623	broad.mit.edu	37	10	63170325	63170325	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:63170325A>C	ENST00000399298.3	-	6	1230	c.862T>G	c.(862-864)Ttc>Gtc	p.F288V	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	288						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCGGCAAAGAACACCAGCATC	0.507																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(862-864)Ttc>Gtc		transmembrane protein 26							103.0	108.0	106.0					10																	63170325		2114	4234	6348	SO:0001583	missense	219623					integral to membrane		g.chr10:63170325A>C	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.862T>G	10.37:g.63170325A>C	ENSP00000382237:p.Phe288Val					TMEM26_ENST00000507507.1_5'UTR	p.F288V	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			6	1230	-	Prostate(12;0.0112)		288					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.862T>G	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	A	32	5.156036	0.94686	.	.	ENSG00000196932	ENST00000399298	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	D	0.83908	0.5356	M	0.85777	2.775	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86486	0.1794	9	0.87932	D	0	-0.0826	16.4288	0.83833	1.0:0.0:0.0:0.0	.	288	Q6ZUK4	TMM26_HUMAN	V	288	.	ENSP00000382237:F288V	F	-	1	0	TMEM26	62840331	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	8.906000	0.92626	2.282000	0.76494	0.533000	0.62120	TTC		0.507	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		44	153	0	0	0	1	0	44	153				
RINT1	60561	broad.mit.edu	37	7	105204334	105204334	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:105204334G>A	ENST00000257700.2	+	12	2057	c.1826G>A	c.(1825-1827)cGt>cAt	p.R609H		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	609	RINT1/TIP20. {ECO:0000255|PROSITE- ProRule:PRU00717}.				G2 DNA damage checkpoint (GO:0031572)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGTTGACCCGTCAAGTAGAC	0.388																																						ENST00000257700.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1825-1827)cGt>cAt		RAD50 interactor 1							102.0	92.0	95.0					7																	105204334		2203	4300	6503	SO:0001583	missense	60561				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding	g.chr7:105204334G>A	AF317622	CCDS34726.1	7q22.2	2007-05-03			ENSG00000135249	ENSG00000135249			21876	protein-coding gene	gene with protein product		610089				11096100, 15029241	Standard	NM_021930		Approved	FLJ11785, RINT-1	uc003vda.1	Q6NUQ1	OTTHUMG00000157400	ENST00000257700.2:c.1826G>A	7.37:g.105204334G>A	ENSP00000257700:p.Arg609His						p.R609H	NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN			12	2057	+			609			RINT1/TIP20.		Q75MG9|Q75MH0|Q96IW8|Q9H229|Q9HAD9	Missense_Mutation	SNP	ENST00000257700.2	37	c.1826G>A	CCDS34726.1	.	.	.	.	.	.	.	.	.	.	G	34	5.392489	0.96009	.	.	ENSG00000135249	ENST00000257700	T	0.30981	1.51	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.54806	0.1881	L	0.56769	1.78	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	T	0.42032	-0.9475	10	0.48119	T	0.1	-16.4485	20.8794	0.99867	0.0:0.0:1.0:0.0	.	609	Q6NUQ1	RINT1_HUMAN	H	609	ENSP00000257700:R609H	ENSP00000257700:R609H	R	+	2	0	RINT1	104991570	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.142000	0.77339	2.941000	0.99782	0.655000	0.94253	CGT		0.388	RINT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348686.1	NM_021930		73	212	0	0	0	1	0	73	212				
SRRM1	10250	broad.mit.edu	37	1	24993386	24993386	+	Missense_Mutation	SNP	G	G	T	rs78787676		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:24993386G>T	ENST00000323848.9	+	13	2024	c.1709G>T	c.(1708-1710)cGc>cTc	p.R570L	SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|SRRM1_ENST00000479034.1_3'UTR|snoU13_ENST00000459464.1_RNA	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	570	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.R570L(2)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTCGACGGCGCAGGACTCCC	0.557																																					Ovarian(68;897 1494 3282 17478)	ENST00000323848.9																			2	Substitution - Missense(2)	p.R570L(2)	urinary_tract(1)|central_nervous_system(1)	breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36						c.(1708-1710)cGc>cTc		serine/arginine repetitive matrix 1							54.0	45.0	48.0					1																	24993386		2203	4300	6503	SO:0001583	missense	10250				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding	g.chr1:24993386G>T	AF048977	CCDS255.1	1p36	2010-04-22			ENSG00000133226	ENSG00000133226			16638	protein-coding gene	gene with protein product	"""Ser/Arg-related nuclear matrix protein"", ""plenty of prolines 101-like"""	605975				9531537	Standard	NM_005839		Approved	SRM160, POP101, MGC39488	uc001bjm.3	Q8IYB3	OTTHUMG00000003320	ENST00000323848.9:c.1709G>T	1.37:g.24993386G>T	ENSP00000326261:p.Arg570Leu					SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000447431.2_Missense_Mutation_p.R582L|SRRM1_ENST00000374389.4_Missense_Mutation_p.R579L|SRRM1_ENST00000537199.1_3'UTR	p.R570L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)	13	2024	+		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)	570			Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.		O60585|Q5VVN4	Missense_Mutation	SNP	ENST00000323848.9	37	c.1709G>T	CCDS255.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693027	0.88735	.	.	ENSG00000133226	ENST00000323848;ENST00000447431;ENST00000374389	T;T;T	0.34667	1.35;1.35;1.35	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000007	T	0.58104	0.2099	L	0.54323	1.7	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76575	0.988;0.972	T	0.57318	-0.7832	10	0.62326	D	0.03	-1.2563	19.3453	0.94361	0.0:0.0:1.0:0.0	.	582;570	E9PCT1;Q8IYB3	.;SRRM1_HUMAN	L	570;582;579	ENSP00000326261:R570L;ENSP00000391430:R582L;ENSP00000363510:R579L	ENSP00000326261:R570L	R	+	2	0	SRRM1	24865973	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	7.773000	0.85462	2.654000	0.90174	0.650000	0.86243	CGC		0.557	SRRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009292.2	NM_005839		5	179	1	0	0.014758	1	0.0149766	5	179				
NEU4	129807	broad.mit.edu	37	2	242757458	242757458	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:242757458G>A	ENST00000391969.2	+	5	1250	c.539G>A	c.(538-540)cGc>cAc	p.R180H	NEU4_ENST00000325935.6_Missense_Mutation_p.R193H|NEU4_ENST00000404257.1_Missense_Mutation_p.R192H|NEU4_ENST00000407683.1_Missense_Mutation_p.R180H|NEU4_ENST00000405370.1_Missense_Mutation_p.R180H	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	180					ganglioside catabolic process (GO:0006689)|glycoprotein catabolic process (GO:0006516)|glycosphingolipid metabolic process (GO:0006687)|oligosaccharide catabolic process (GO:0009313)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|organelle inner membrane (GO:0019866)	exo-alpha-(2->3)-sialidase activity (GO:0052794)|exo-alpha-(2->6)-sialidase activity (GO:0052795)|exo-alpha-(2->8)-sialidase activity (GO:0052796)|exo-alpha-sialidase activity (GO:0004308)			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TACACCTACCGCGTGGACCGC	0.677																																						ENST00000391969.2																			0				breast(1)|lung(10)|prostate(2)|skin(2)	15						c.(538-540)cGc>cAc		sialidase 4							68.0	46.0	54.0					2																	242757458		2197	4299	6496	SO:0001583	missense	129807					lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding	g.chr2:242757458G>A	BC012899	CCDS2553.1, CCDS54441.1, CCDS54442.1	2q37.3	2008-02-05			ENSG00000204099	ENSG00000204099			21328	protein-coding gene	gene with protein product		608527					Standard	NM_001167600		Approved		uc010fzr.3	Q8WWR8	OTTHUMG00000133412	ENST00000391969.2:c.539G>A	2.37:g.242757458G>A	ENSP00000375830:p.Arg180His					NEU4_ENST00000405370.1_Missense_Mutation_p.R180H|NEU4_ENST00000407683.1_Missense_Mutation_p.R180H|NEU4_ENST00000404257.1_Missense_Mutation_p.R192H|NEU4_ENST00000325935.6_Missense_Mutation_p.R193H	p.R180H	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)	5	1250	+		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	180					A8K056|J3KNJ5|Q96D64	Missense_Mutation	SNP	ENST00000391969.2	37	c.539G>A	CCDS54442.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.676|5.676	0.309365|0.309365	0.10733|0.10733	.|.	.|.	ENSG00000204099|ENSG00000204099	ENST00000415936;ENST00000426032|ENST00000407683;ENST00000405370;ENST00000472793;ENST00000423583;ENST00000404257;ENST00000391969;ENST00000325935;ENST00000420288	T;T|D;D;D;D;D;D;D	0.36340|0.84516	1.26;1.27|-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	4.47|4.47	-3.37|-3.37	0.04898|0.04898	.|Neuraminidase (2);	.|0.278834	.|0.39020	.|N	.|0.001484	T|T	0.61160|0.61160	0.2325|0.2325	N|N	0.03209|0.03209	-0.39|-0.39	0.24176|0.24176	N|N	0.9956|0.9956	.|B;B;B	.|0.11235	.|0.004;0.004;0.004	.|B;B;B	.|0.11329	.|0.001;0.001;0.006	T|T	0.52909|0.52909	-0.8512|-0.8512	7|10	0.22706|0.11182	T|T	0.39|0.66	-5.5641|-5.5641	11.8952|11.8952	0.52652|0.52652	0.8204:0.0:0.1796:0.0|0.8204:0.0:0.1796:0.0	.|.	.|192;192;180	.|A8K211;Q8WWR8-2;Q8WWR8	.|.;.;NEUR4_HUMAN	T|H	95;107|180;180;190;180;192;180;193;180	ENSP00000397167:A95T;ENSP00000406678:A107T|ENSP00000385402:R180H;ENSP00000384804:R180H;ENSP00000397860:R180H;ENSP00000385149:R192H;ENSP00000375830:R180H;ENSP00000320318:R193H;ENSP00000388707:R180H	ENSP00000397167:A95T|ENSP00000320318:R193H	A|R	+|+	1|2	0|0	NEU4|NEU4	242406131|242406131	0.764000|0.764000	0.28473|0.28473	0.501000|0.501000	0.27601|0.27601	0.978000|0.978000	0.69477|0.69477	0.875000|0.875000	0.28079|0.28079	-0.569000|-0.569000	0.06030|0.06030	0.443000|0.443000	0.29094|0.29094	GCG|CGC		0.677	NEU4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257270.2	NM_080741		25	96	0	0	0	1	0	25	96				
CMSS1	84319	broad.mit.edu	37	3	99879303	99879303	+	Silent	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:99879303G>A	ENST00000421999.2	+	3	329	c.183G>A	c.(181-183)aaG>aaA	p.K61K	CMSS1_ENST00000489081.1_Silent_p.K43K	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	61							poly(A) RNA binding (GO:0044822)										TACAACCAAAGGAAAGAAAAG	0.308																																						ENST00000421999.2																			0											c.(181-183)aaG>aaA		cms1 ribosomal small subunit homolog (yeast)							42.0	44.0	43.0					3																	99879303		2196	4298	6494	SO:0001819	synonymous_variant	84319							g.chr3:99879303G>A		CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.183G>A	3.37:g.99879303G>A						CMSS1_ENST00000489081.1_Silent_p.K43K	p.K61K	NM_032359.3	NP_115735.2					3	329	+								A8K5S7|B4DUM1|E9PHS3	Silent	SNP	ENST00000421999.2	37	c.183G>A	CCDS2935.1																																																																																				0.308	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353060.1	NM_032359		13	63	0	0	0	1	0	13	63				
UBR4	23352	broad.mit.edu	37	1	19491395	19491395	+	Missense_Mutation	SNP	C	C	T	rs369985401		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:19491395C>T	ENST00000375254.3	-	32	4436	c.4409G>A	c.(4408-4410)cGc>cAc	p.R1470H	UBR4_ENST00000375226.2_Missense_Mutation_p.R1470H|UBR4_ENST00000375267.2_Missense_Mutation_p.R1470H|UBR4_ENST00000375217.2_Missense_Mutation_p.R1470H	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1470					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.R1470H(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TGTAGTCATGCGGGTGAGCCA	0.557																																						ENST00000375267.2																			1	Substitution - Missense(1)	p.R1470H(1)	lung(1)	breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171						c.(4408-4410)cGc>cAc		ubiquitin protein ligase E3 component n-recognin 4							80.0	80.0	80.0					1																	19491395		2203	4300	6503	SO:0001583	missense	23352				interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:19491395C>T	AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.4409G>A	1.37:g.19491395C>T	ENSP00000364403:p.Arg1470His					UBR4_ENST00000375226.2_Missense_Mutation_p.R1470H|UBR4_ENST00000375254.3_Missense_Mutation_p.R1470H|UBR4_ENST00000375217.2_Missense_Mutation_p.R1470H	p.R1470H			Q5T4S7	UBR4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)	32	4412	-		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)	1470					A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	ENST00000375254.3	37	c.4409G>A	CCDS189.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.971354	0.74246	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T	0.21734	2.0;2.0;2.0;1.99	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	N	0.11064	0.09	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.08166	-1.0735	10	0.08381	T	0.77	.	19.5865	0.95492	0.0:1.0:0.0:0.0	.	1470	Q5T4S7	UBR4_HUMAN	H	1470;1470;1470;1470;180;686	ENSP00000364403:R1470H;ENSP00000364416:R1470H;ENSP00000364365:R1470H;ENSP00000364374:R1470H	ENSP00000364365:R1470H	R	-	2	0	UBR4	19363982	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.250000	0.78287	2.723000	0.93209	0.655000	0.94253	CGC		0.557	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007085.1	NM_020765		5	357	0	0	0	1	0	5	357				
KIAA0922	23240	broad.mit.edu	37	4	154557660	154557660	+	Missense_Mutation	SNP	A	A	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr4:154557660A>C	ENST00000409663.3	+	35	4814	c.4762A>C	c.(4762-4764)Act>Cct	p.T1588P	KIAA0922_ENST00000440693.1_Missense_Mutation_p.T1505P|KIAA0922_ENST00000409959.3_Missense_Mutation_p.T1589P	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1588						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GGACATATGGACTACCACAGC	0.443																																						ENST00000409663.3																			0				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(4762-4764)Act>Cct		KIAA0922							101.0	96.0	98.0					4																	154557660		2203	4300	6503	SO:0001583	missense	23240					integral to membrane		g.chr4:154557660A>C	AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.4762A>C	4.37:g.154557660A>C	ENSP00000386574:p.Thr1588Pro					KIAA0922_ENST00000440693.1_Missense_Mutation_p.T1505P|KIAA0922_ENST00000409959.3_Missense_Mutation_p.T1589P	p.T1588P	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN			35	4814	+	all_hematologic(180;0.093)	Renal(120;0.118)	1588					B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	c.4762A>C	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745420	0.89663	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.23147	2.22;1.92;2.22;1.93	5.93	5.93	0.95920	.	0.053443	0.85682	D	0.000000	T	0.38054	0.1026	N	0.19112	0.55	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.996	T	0.33111	-0.9881	10	0.72032	D	0.01	-21.6398	16.3721	0.83368	1.0:0.0:0.0:0.0	.	1505;1589;1588	A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;T131L_HUMAN	P	1588;1505;1589;1366	ENSP00000386574:T1588P;ENSP00000409663:T1505P;ENSP00000386787:T1589P;ENSP00000240487:T1366P	ENSP00000240487:T1366P	T	+	1	0	KIAA0922	154777110	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.620000	0.90943	2.257000	0.74773	0.533000	0.62120	ACT		0.443	KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196		18	368	0	0	0	1	0	18	368				
NBPF3	84224	broad.mit.edu	37	1	21806573	21806573	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:21806573A>G	ENST00000318249.5	+	11	1588	c.1238A>G	c.(1237-1239)gAg>gGg	p.E413G	NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G|NBPF3_ENST00000318220.6_Missense_Mutation_p.E357G	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	413	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.E413G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GATGAGAAAGAGCCTGAAGTC	0.463																																						ENST00000318220.6																			1	Substitution - Missense(1)	p.E413G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1069-1071)gAg>gGg		neuroblastoma breakpoint family, member 3							38.0	29.0	33.0					1																	21806573		2167	3971	6138	SO:0001583	missense	84224					cytoplasm		g.chr1:21806573A>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1238A>G	1.37:g.21806573A>G	ENSP00000316782:p.Glu413Gly					NBPF3_ENST00000454000.2_Missense_Mutation_p.E343G|NBPF3_ENST00000318249.5_Missense_Mutation_p.E413G|NBPF3_ENST00000342104.5_Missense_Mutation_p.E401G	p.E357G			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2118	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	413			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1070A>G	CCDS216.1	.	.	.	.	.	.	.	.	.	.	.	6.316	0.426410	0.11987	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41	0.658	0.658	0.17855	DUF1220 (2);	.	.	.	.	T	0.12689	0.0308	L	0.37850	1.14	0.09310	N	1	B;B;B	0.12013	0.005;0.0;0.004	B;B;B	0.23150	0.044;0.001;0.008	T	0.31724	-0.9933	8	0.31617	T	0.26	.	.	.	.	.	343;401;413	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	G	343;357;413;401;357	ENSP00000415711:E343G;ENSP00000316739:E357G;ENSP00000316782:E413G;ENSP00000340336:E401G;ENSP00000391865:E357G	ENSP00000316739:E357G	E	+	2	0	NBPF3	21679160	0.005000	0.15991	0.004000	0.12327	0.308000	0.27856	0.130000	0.15850	0.565000	0.29255	0.102000	0.15555	GAG		0.463	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		4	137	0	0	0	1	0	4	137				
F5	2153	broad.mit.edu	37	1	169510502	169510502	+	Missense_Mutation	SNP	G	G	T	rs140018525		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:169510502G>T	ENST00000367797.3	-	13	4027	c.3826C>A	c.(3826-3828)Ctt>Att	p.L1276I	F5_ENST00000367796.3_Missense_Mutation_p.L1281I	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1276	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TCTGGAGAAAGGGGCATCTGA	0.502													G|||	1	0.000199681	0.0	0.0014	5008	,	,		20915	0.0		0.0	False		,,,				2504	0.0					ENST00000367796.3																			0				NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128						c.(3841-3843)Ctt>Att		coagulation factor V (proaccelerin, labile factor)	Drotrecogin alfa(DB00055)						219.0	233.0	228.0					1																	169510502		2203	4300	6503	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169510502G>T	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.3826C>A	1.37:g.169510502G>T	ENSP00000356771:p.Leu1276Ile					F5_ENST00000367797.3_Missense_Mutation_p.L1276I	p.L1281I			P12259	FA5_HUMAN			13	4042	-	all_hematologic(923;0.208)		1276			35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.3841C>A	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987829	0.35036	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	T;T	0.36520	1.25;1.25	4.13	-2.91	0.05631	.	.	.	.	.	T	0.13798	0.0334	M	0.62723	1.935	0.09310	N	0.999999	P	0.37061	0.58	B	0.35114	0.196	T	0.16778	-1.0391	8	0.22706	T	0.39	-2.9938	9.7911	0.40706	0.642:0.0:0.358:0.0	.	1276	P12259	FA5_HUMAN	I	1276;1281	ENSP00000356771:L1276I;ENSP00000356770:L1281I	ENSP00000356770:L1281I	L	-	1	0	F5	167777126	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.767000	0.04720	-0.412000	0.07519	-0.364000	0.07487	CTT		0.502	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		17	1603	1	0	5.50884e-06	1	5.89618e-06	17	1603				
NRXN2	9379	broad.mit.edu	37	11	64419602	64419602	+	Missense_Mutation	SNP	G	G	A	rs200231532		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:64419602G>A	ENST00000377551.1	-	12	2652	c.2441C>T	c.(2440-2442)gCg>gTg	p.A814V	NRXN2_ENST00000377559.3_Missense_Mutation_p.A774V|NRXN2_ENST00000409571.1_Missense_Mutation_p.A807V|NRXN2_ENST00000265459.6_Missense_Mutation_p.A814V|AP001092.4_ENST00000433606.1_RNA			Q9P2S2	NRX2A_HUMAN	neurexin 2	814	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CTTGTGCCCCGCAAACAGCGT	0.572																																						ENST00000265459.6																			0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						c.(2440-2442)gCg>gTg		neurexin 2							98.0	70.0	79.0					11																	64419602		2201	4297	6498	SO:0001583	missense	9379				cell adhesion	integral to membrane	metal ion binding	g.chr11:64419602G>A		CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.2441C>T	11.37:g.64419602G>A	ENSP00000366774:p.Ala814Val					NRXN2_ENST00000409571.1_Missense_Mutation_p.A807V|NRXN2_ENST00000377559.3_Missense_Mutation_p.A774V|AP001092.4_ENST00000433606.1_RNA|NRXN2_ENST00000377551.1_Missense_Mutation_p.A814V	p.A814V	NM_015080.3	NP_055895.1	Q9P2S2	NRX2A_HUMAN			13	2902	-			814			Laminin G-like 4.		A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	c.2441C>T	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417206	0.62511	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	4.91	4.91	0.64330	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.42053	U	0.000778	T	0.68274	0.2983	L	0.37897	1.145	0.47659	D	0.999482	P;P;P	0.47545	0.897;0.871;0.643	B;B;B	0.37833	0.151;0.259;0.101	T	0.73789	-0.3872	10	0.54805	T	0.06	.	15.6201	0.76799	0.0:0.0:1.0:0.0	.	774;814;560	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	V	814;774;814;774;807	ENSP00000366774:A814V;ENSP00000366782:A774V;ENSP00000265459:A814V;ENSP00000386416:A807V	ENSP00000265459:A814V	A	-	2	0	NRXN2	64176178	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.259000	0.58828	2.553000	0.86117	0.561000	0.74099	GCG		0.572	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3	NM_015080		27	88	0	0	0	1	0	27	88				
FCRL1	115350	broad.mit.edu	37	1	157769869	157769869	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:157769869C>T	ENST00000368176.3	-	7	1077	c.1010G>A	c.(1009-1011)cGt>cAt	p.R337H	FCRL1_ENST00000358292.3_Missense_Mutation_p.R298H|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Missense_Mutation_p.R337H	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	337						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCTGGCTGAACGTCTTCCTGA	0.408																																					GBM(54;482 1003 11223 30131 35730)	ENST00000358292.3																			0				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42						c.(892-894)cGt>cAt		Fc receptor-like 1							100.0	90.0	93.0					1																	157769869		2203	4300	6503	SO:0001583	missense	115350					integral to membrane|plasma membrane	receptor activity	g.chr1:157769869C>T	BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1010G>A	1.37:g.157769869C>T	ENSP00000357158:p.Arg337His					FCRL1_ENST00000491942.1_Missense_Mutation_p.R337H|FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000368176.3_Missense_Mutation_p.R337H	p.R298H	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		6	944	-	all_hematologic(112;0.0378)		337					B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	c.893G>A	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	C	10.74	1.436657	0.25900	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.46451	0.87;1.06;1.09	5.03	-0.412	0.12367	.	1.215290	0.05705	N	0.594801	T	0.11623	0.0283	L	0.45581	1.43	0.09310	N	1	B;B;B	0.33739	0.105;0.422;0.064	B;B;B	0.25506	0.027;0.061;0.012	T	0.22068	-1.0227	10	0.45353	T	0.12	.	0.9423	0.01358	0.162:0.4013:0.1578:0.279	.	298;337;337	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	H	298;337;337	ENSP00000351039:R298H;ENSP00000357158:R337H;ENSP00000418130:R337H	ENSP00000351039:R298H	R	-	2	0	FCRL1	156036493	0.001000	0.12720	0.029000	0.17559	0.036000	0.12997	-0.669000	0.05262	-0.134000	0.11516	-0.136000	0.14681	CGT		0.408	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938		8	396	0	0	0	1	0	8	396				
TRIO	7204	broad.mit.edu	37	5	14291189	14291189	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:14291189C>T	ENST00000344204.4	+	5	929	c.905C>T	c.(904-906)gCg>gTg	p.A302V	TRIO_ENST00000537187.1_Missense_Mutation_p.A302V|TRIO_ENST00000509967.2_Missense_Mutation_p.A253V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	302					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCAGGCAATGCGGACCTGCAG	0.562																																						ENST00000344204.4																			0				NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118						c.(904-906)gCg>gTg		trio Rho guanine nucleotide exchange factor							74.0	76.0	75.0					5																	14291189		2203	4300	6503	SO:0001583	missense	7204				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr5:14291189C>T	AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.905C>T	5.37:g.14291189C>T	ENSP00000339299:p.Ala302Val					TRIO_ENST00000537187.1_Missense_Mutation_p.A302V|TRIO_ENST00000509967.2_Missense_Mutation_p.A253V	p.A302V	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN			5	929	+	Lung NSC(4;0.000742)		302					D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	c.905C>T	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671920	0.47781	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967	T;T;T	0.42900	0.96;0.96;0.96	5.19	4.32	0.51571	.	0.176109	0.49305	N	0.000157	T	0.63010	0.2475	M	0.73598	2.24	0.54753	D	0.999988	D;D	0.89917	1.0;0.977	D;P	0.75020	0.985;0.532	T	0.66716	-0.5853	10	0.59425	D	0.04	.	13.6293	0.62186	0.0:0.9251:0.0:0.0749	.	253;302	F5H228;O75962	.;TRIO_HUMAN	V	302;302;253	ENSP00000339299:A302V;ENSP00000446348:A302V;ENSP00000445592:A253V	ENSP00000339299:A302V	A	+	2	0	TRIO	14344189	0.998000	0.40836	0.222000	0.23844	0.711000	0.40976	3.886000	0.56190	1.205000	0.43262	0.462000	0.41574	GCG		0.562	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118		5	309	0	0	0	1	0	5	309				
IFITM3	10410	broad.mit.edu	37	11	319946	319946	+	Silent	SNP	G	G	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:319946G>T	ENST00000399808.4	-	2	530	c.294C>A	c.(292-294)gcC>gcA	p.A98A	RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000602735.1_Silent_p.A77A|RP11-326C3.11_ENST00000508004.2_RNA|RP11-326C3.14_ENST00000602809.1_lincRNA|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000526811.1_Silent_p.A77A	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	98					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGAGGCATAGGCCTGGGCCC	0.617																																						ENST00000399808.4																			0				central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18						c.(292-294)gcC>gcA		interferon induced transmembrane protein 3							54.0	57.0	56.0					11																	319946		1968	4117	6085	SO:0001819	synonymous_variant	10410				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		g.chr11:319946G>T	X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.294C>A	11.37:g.319946G>T						IFITM3_ENST00000526811.1_Silent_p.A77A|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Silent_p.A77A|RP11-326C3.11_ENST00000602756.1_RNA	p.A98A	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)	2	530	-		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	98					Q53Y76|Q96HK8|Q96J15	Silent	SNP	ENST00000399808.4	37	c.294C>A	CCDS41585.1																																																																																				0.617	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034		54	184	1	0	1.93748e-29	1	2.19368e-29	54	184				
DEDD	9191	broad.mit.edu	37	1	161092295	161092295	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:161092295C>T	ENST00000368006.3	-	6	813	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000490843.2_Missense_Mutation_p.R200Q|DEDD_ENST00000392188.1_Missense_Mutation_p.R230Q|DEDD_ENST00000368005.1_Missense_Mutation_p.R230Q|DEDD_ENST00000458050.2_Missense_Mutation_p.R200Q|DEDD_ENST00000545495.1_Missense_Mutation_p.R200Q|NIT1_ENST00000368008.1_Intron	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	200					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)	p.R200L(1)		cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GTATTCAGCCCGAACCCGCAG	0.493																																						ENST00000392188.1																			1	Substitution - Missense(1)	p.R200L(1)	lung(1)	cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10						c.(688-690)cGg>cAg		death effector domain containing							77.0	83.0	81.0					1																	161092295		2203	4300	6503	SO:0001583	missense	9191				apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	g.chr1:161092295C>T	AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.599G>A	1.37:g.161092295C>T	ENSP00000356985:p.Arg200Gln					NIT1_ENST00000368008.1_Intron|DEDD_ENST00000368006.3_Missense_Mutation_p.R200Q|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000368005.1_Missense_Mutation_p.R230Q|DEDD_ENST00000458050.2_Missense_Mutation_p.R200Q|DEDD_ENST00000545495.1_Missense_Mutation_p.R200Q	p.R230Q			O75618	DEDD_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	923	-	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		200					D3DVF5|O60737	Missense_Mutation	SNP	ENST00000368006.3	37	c.689G>A	CCDS1219.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.662293	0.88251	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.72630	0.3484	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	0.996;1.0;1.0	P;D;D	0.80764	0.694;0.994;0.982	T	0.74386	-0.3682	9	0.59425	D	0.04	.	15.9207	0.79570	0.0:1.0:0.0:0.0	.	157;230;200	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	Q	200;230;200;200;200;230;157	.	ENSP00000356984:R230Q	R	-	2	0	DEDD	159358919	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.629000	0.83207	2.620000	0.88729	0.655000	0.94253	CGG		0.493	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080582.1	NM_004216		56	511	0	0	0	1	0	56	511				
DOCK3	1795	broad.mit.edu	37	3	51418535	51418535	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:51418535G>A	ENST00000266037.9	+	53	5661	c.5638G>A	c.(5638-5640)Ggc>Agc	p.G1880S		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1880					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGGTCTGGACGGCAGCAACTC	0.617																																						ENST00000266037.9																			0				breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45						c.(5638-5640)Ggc>Agc		dedicator of cytokinesis 3							64.0	77.0	73.0					3																	51418535		2192	4296	6488	SO:0001583	missense	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51418535G>A	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5638G>A	3.37:g.51418535G>A	ENSP00000266037:p.Gly1880Ser						p.G1880S	NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	53	5661	+			1880					O15017	Missense_Mutation	SNP	ENST00000266037.9	37	c.5638G>A	CCDS46835.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.883752	0.91814	.	.	ENSG00000088538	ENST00000266037	T	0.04119	3.7	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.12008	0.0292	N	0.21583	0.68	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.40739	-0.9547	10	0.10111	T	0.7	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1880	Q8IZD9	DOCK3_HUMAN	S	1880	ENSP00000266037:G1880S	ENSP00000266037:G1880S	G	+	1	0	DOCK3	51393575	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	9.221000	0.95188	2.941000	0.99782	0.655000	0.94253	GGC		0.617	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947		120	286	0	0	0	1	0	120	286				
HLA-A	3105	broad.mit.edu	37	6	29912337	29912337	+	Missense_Mutation	SNP	G	G	T	rs41550912		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:29912337G>T	ENST00000396634.1	+	7	1297	c.956G>T	c.(955-957)gGa>gTa	p.G319V	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.G319V|HLA-A_ENST00000376806.5_Missense_Mutation_p.G319V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	319					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GTTCTCCTTGGAGCTGTGATC	0.592									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(955-957)gGa>gTa		major histocompatibility complex, class I, A							110.0	104.0	106.0					6																	29912337		1509	2709	4218	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29912337G>T	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.956G>T	6.37:g.29912337G>T	ENSP00000379873:p.Gly319Val	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.G319V|HLA-A_ENST00000376806.5_Missense_Mutation_p.G319V	p.G319V			P30443	1A01_HUMAN			7	1297	+			319					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.956G>T	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	3.795	-0.042947	0.07452	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00682	5.87;5.86;5.87	2.98	-3.73	0.04398	.	1.138450	0.07111	U	0.842163	T	0.00328	0.0010	L	0.45470	1.425	0.09310	N	1	B;B;B;B;B	0.14805	0.011;0.002;0.003;0.002;0.001	B;B;B;B;B	0.14578	0.011;0.008;0.007;0.008;0.008	T	0.38178	-0.9673	10	0.87932	D	0	.	6.7595	0.23532	0.0:0.4328:0.2662:0.301	.	198;319;319;319;319	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	V	319	ENSP00000379873:G319V;ENSP00000366002:G319V;ENSP00000366005:G319V	ENSP00000366002:G319V	G	+	2	0	HLA-A	30020316	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-0.529000	0.06186	-0.834000	0.04239	0.485000	0.47835	GGA		0.592	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		6	265	1	0	2.17888e-05	1	2.2962e-05	6	265				
EPHA4	2043	broad.mit.edu	37	2	222301271	222301271	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:222301271A>G	ENST00000281821.2	-	13	2235	c.2194T>C	c.(2194-2196)Tct>Cct	p.S732P	EPHA4_ENST00000392071.4_Missense_Mutation_p.S681P|EPHA4_ENST00000409854.1_Missense_Mutation_p.S732P|EPHA4_ENST00000409938.1_Missense_Mutation_p.S732P	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	732	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult walking behavior (GO:0007628)|cell adhesion (GO:0007155)|corticospinal tract morphogenesis (GO:0021957)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|glial cell migration (GO:0008347)|motor neuron axon guidance (GO:0008045)|negative regulation of axon regeneration (GO:0048681)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001108)|protein autophosphorylation (GO:0046777)|regulation of astrocyte differentiation (GO:0048710)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rac GTPase activity (GO:0032314)|regulation of Rap GTPase activity (GO:0032317)	axon (GO:0030424)|axon terminus (GO:0043679)|axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|mitochondrial outer membrane (GO:0005741)|neuromuscular junction (GO:0031594)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|DH domain binding (GO:0097161)|GPI-linked ephrin receptor activity (GO:0005004)|PH domain binding (GO:0042731)|protein kinase activity (GO:0004672)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TTCATCCCAGACCCAATGCCA	0.453																																						ENST00000281821.2																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(2194-2196)Tct>Cct		EPH receptor A4							139.0	124.0	129.0					2																	222301271		2203	4300	6503	SO:0001583	missense	2043					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr2:222301271A>G	L36645	CCDS2447.1	2q36.3	2013-02-11	2004-10-28		ENSG00000116106	ENSG00000116106	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3388	protein-coding gene	gene with protein product		602188	"""EphA4"""	TYRO1		9267020	Standard	NM_004438		Approved	Hek8	uc002vmq.3	P54764	OTTHUMG00000133142	ENST00000281821.2:c.2194T>C	2.37:g.222301271A>G	ENSP00000281821:p.Ser732Pro					EPHA4_ENST00000409938.1_Missense_Mutation_p.S732P|EPHA4_ENST00000409854.1_Missense_Mutation_p.S732P|EPHA4_ENST00000392071.4_Missense_Mutation_p.S681P	p.S732P	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)	13	2235	-		Renal(207;0.0183)	732			Protein kinase.		A8K2P1|B2R601|B7Z6Q8|Q2M380	Missense_Mutation	SNP	ENST00000281821.2	37	c.2194T>C	CCDS2447.1	.	.	.	.	.	.	.	.	.	.	A	19.69	3.874684	0.72180	.	.	ENSG00000116106	ENST00000281821;ENST00000409854;ENST00000409938;ENST00000392071	D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71	5.98	5.98	0.97165	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	D	0.92808	0.7713	M	0.91818	3.245	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	D	0.94191	0.7441	10	0.87932	D	0	.	16.4684	0.84092	1.0:0.0:0.0:0.0	.	732	P54764	EPHA4_HUMAN	P	732;732;732;681	ENSP00000281821:S732P;ENSP00000386276:S732P;ENSP00000386829:S732P;ENSP00000375923:S681P	ENSP00000281821:S732P	S	-	1	0	EPHA4	222009515	1.000000	0.71417	0.981000	0.43875	0.915000	0.54546	7.306000	0.78905	2.289000	0.77006	0.460000	0.39030	TCT		0.453	EPHA4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256836.3			79	426	0	0	0	1	0	79	426				
KIAA1804	84451	broad.mit.edu	37	1	233497954	233497954	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:233497954G>T	ENST00000366624.3	+	5	1728	c.1467G>T	c.(1465-1467)gaG>gaT	p.E489D	MLK4_ENST00000366623.3_Missense_Mutation_p.E489D	NM_032435.2	NP_115811.2																					TAAACCAGGAGAAGCCCAAGG	0.478																																						ENST00000366624.3																			0											c.(1465-1467)gaG>gaT									76.0	74.0	75.0					1																	233497954		2203	4300	6503	SO:0001583	missense	0							g.chr1:233497954G>T																												ENST00000366624.3:c.1467G>T	1.37:g.233497954G>T	ENSP00000355583:p.Glu489Asp					MLK4_ENST00000366623.3_Missense_Mutation_p.E489D	p.E489D	NM_032435.2	NP_115811.2					5	1728	+									Missense_Mutation	SNP	ENST00000366624.3	37	c.1467G>T	CCDS1598.1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127586	0.37533	.	.	ENSG00000143674	ENST00000366623;ENST00000366624	T;T	0.16324	2.35;2.35	4.82	1.88	0.25563	.	0.064059	0.64402	D	0.000007	T	0.12774	0.0310	L	0.47716	1.5	0.80722	D	1	B;B	0.14012	0.009;0.003	B;B	0.19666	0.026;0.017	T	0.11251	-1.0595	10	0.36615	T	0.2	.	3.9006	0.09159	0.1469:0.129:0.5911:0.1331	.	489;489	Q5TCX8;Q5TCX8-2	M3KL4_HUMAN;.	D	489	ENSP00000355582:E489D;ENSP00000355583:E489D	ENSP00000355582:E489D	E	+	3	2	RP5-862P8.2	231564577	1.000000	0.71417	0.968000	0.41197	0.929000	0.56500	1.633000	0.37113	0.222000	0.20900	0.655000	0.94253	GAG		0.478	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092495.1			9	290	1	0	1.12685e-05	1	1.19673e-05	9	290				
IGHV4-4	28401	broad.mit.edu	37	14	106478456	106478456	+	RNA	SNP	C	C	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:106478456C>G	ENST00000390596.2	-	0	110									immunoglobulin heavy variable 4-4																		TCAGAGGCACCTCCCATATCC	0.592																																						ENST00000390596.2																			0																				51.0	50.0	51.0					14																	106478456		1880	4090	5970			0							g.chr14:106478456C>G	X62112		14q32.33	2012-02-08			ENSG00000211936	ENSG00000276775		"""Immunoglobulins / IGH locus"""	5652	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152322		14.37:g.106478456C>G														0	110	-									RNA	SNP	ENST00000390596.2	37																																																																																						0.592	IGHV4-4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325884.1	NG_001019		6	167	0	0	0	1	0	6	167				
ZCCHC14	23174	broad.mit.edu	37	16	87466772	87466772	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:87466772G>A	ENST00000268616.4	-	3	536	c.319C>T	c.(319-321)Cac>Tac	p.H107Y		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	107							nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTTTTTGTGTGTGATAATCCC	0.343																																						ENST00000268616.4																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.(319-321)Cac>Tac		zinc finger, CCHC domain containing 14							290.0	275.0	280.0					16																	87466772		2197	4299	6496	SO:0001583	missense	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87466772G>A	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.319C>T	16.37:g.87466772G>A	ENSP00000268616:p.His107Tyr						p.H107Y	NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	3	536	-			107					D3DUN1|O60324|Q3MJD8|Q9UFP0	Missense_Mutation	SNP	ENST00000268616.4	37	c.319C>T	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898473	0.72639	.	.	ENSG00000140948	ENST00000268616	T	0.67865	-0.29	5.09	5.09	0.68999	Phox homologous domain (1);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	L	0.60455	1.87	0.35943	D	0.833362	D	0.63880	0.993	D	0.70227	0.968	D	0.84115	0.0403	10	0.72032	D	0.01	-25.1339	15.7875	0.78319	0.0:0.0:1.0:0.0	.	107	Q8WYQ9	ZCH14_HUMAN	Y	107	ENSP00000268616:H107Y	ENSP00000268616:H107Y	H	-	1	0	ZCCHC14	86024273	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.594000	0.54008	2.529000	0.85273	0.563000	0.77884	CAC		0.343	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144		4	141	0	0	0	1	0	4	141				
FAM47C	442444	broad.mit.edu	37	X	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	rs145580328		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642																																						ENST00000358047.3																			7	Substitution - Missense(7)	p.N648D(7)	urinary_tract(2)|prostate(2)|lung(2)|skin(1)	breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(1942-1944)Aat>Gat		family with sequence similarity 47, member C							51.0	56.0	55.0					X																	37028425		2201	4299	6500	SO:0001583	missense	442444							g.chrX:37028425A>G	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1942A>G	X.37:g.37028425A>G	ENSP00000367913:p.Asn648Asp						p.N648D	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1994	+			648					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.1942A>G	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	3.343	-0.134139	0.06711	.	.	ENSG00000198173	ENST00000358047	T	0.13196	2.61	1.61	-3.22	0.05125	.	.	.	.	.	T	0.04543	0.0124	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.38993	-0.9635	9	0.20519	T	0.43	.	0.6811	0.00875	0.2356:0.2078:0.3498:0.2069	.	648	Q5HY64	FA47C_HUMAN	D	648	ENSP00000367913:N648D	ENSP00000367913:N648D	N	+	1	0	FAM47C	36938346	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.937000	0.01547	-1.437000	0.01967	-1.178000	0.01721	AAT		0.642	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		6	364	0	0	0	1	0	6	364				
FAM129B	64855	broad.mit.edu	37	9	130272530	130272530	+	Silent	SNP	G	G	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr9:130272530G>C	ENST00000373312.3	-	9	1269	c.1056C>G	c.(1054-1056)gtC>gtG	p.V352V	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Silent_p.V339V	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	352					negative regulation of apoptotic process (GO:0043066)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						GGCTGGTGGGGACCATCAGGG	0.607																																						ENST00000373312.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						c.(1054-1056)gtC>gtG		family with sequence similarity 129, member B							141.0	134.0	136.0					9																	130272530		2203	4300	6503	SO:0001819	synonymous_variant	64855						protein binding	g.chr9:130272530G>C	AF151783	CCDS35144.1, CCDS35145.1	9q34.13	2010-02-01	2006-11-23	2006-11-23	ENSG00000136830	ENSG00000136830			25282	protein-coding gene	gene with protein product		614045	"""chromosome 9 open reading frame 88"""	C9orf88		14702039, 19362540	Standard	XM_005252135		Approved	DKFZP434H0820, FLJ13518, FLJ22151, FLJ22298, bA356B19.6, MINERVA	uc004brh.3	Q96TA1	OTTHUMG00000020705	ENST00000373312.3:c.1056C>G	9.37:g.130272530G>C						FAM129B_ENST00000373314.3_Silent_p.V339V|FAM129B_ENST00000468379.1_Intron	p.V352V	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN			9	1269	-			352					Q4LE55|Q5VVW6|Q5VVW7|Q9BUS2|Q9NT35	Silent	SNP	ENST00000373312.3	37	c.1056C>G	CCDS35145.1																																																																																				0.607	FAM129B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054196.1	NM_022833		93	396	0	0	0	1	0	93	396				
HAUS8	93323	broad.mit.edu	37	19	17173553	17173553	+	Missense_Mutation	SNP	T	T	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:17173553T>A	ENST00000253669.5	-	4	374	c.184A>T	c.(184-186)Atg>Ttg	p.M62L	HAUS8_ENST00000593360.1_Start_Codon_SNP_p.M1L|HAUS8_ENST00000448593.2_Missense_Mutation_p.M62L			Q9BT25	HAUS8_HUMAN	HAUS augmin-like complex, subunit 8	62					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						CCTTCAGACATCTTCCCTCGG	0.537																																						ENST00000253669.5																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	12						c.(184-186)Atg>Ttg		HAUS augmin-like complex, subunit 8							190.0	151.0	164.0					19																	17173553		2203	4300	6503	SO:0001583	missense	93323				cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole		g.chr19:17173553T>A	BC004398	CCDS32948.1, CCDS46009.1	19p13.11	2013-10-11	2009-04-20	2009-04-20	ENSG00000131351	ENSG00000131351		"""HAUS augmin-like complex subunits"""	30532	protein-coding gene	gene with protein product		613434	"""HEC1/NDC80 interacting, centrosome associated 1"""	HICE1		19427217	Standard	XM_005260154		Approved	MGC20533, NY-SAR-48	uc002nfe.3	Q9BT25		ENST00000253669.5:c.184A>T	19.37:g.17173553T>A	ENSP00000253669:p.Met62Leu					HAUS8_ENST00000448593.2_Missense_Mutation_p.M62L|HAUS8_ENST00000593360.1_Start_Codon_SNP_p.M1L	p.M62L			Q9BT25	HAUS8_HUMAN			4	374	-			62					B4DJA7|C9JBZ4|Q49AC4|Q86WF0|Q96FX3	Missense_Mutation	SNP	ENST00000253669.5	37	c.184A>T	CCDS32948.1	.	.	.	.	.	.	.	.	.	.	T	2.950	-0.216853	0.06101	.	.	ENSG00000131351	ENST00000253669;ENST00000448593	T;T	0.42513	0.98;0.97	2.45	-2.04	0.07343	.	0.866434	0.09993	N	0.729472	T	0.31638	0.0803	L	0.51422	1.61	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.06405	0.002;0.001;0.001	T	0.25745	-1.0123	10	0.27785	T	0.31	-2.9844	7.0491	0.25063	0.0:0.5648:0.0:0.4352	.	1;62;62	Q9BT25-2;C9JBZ4;Q9BT25	.;.;HAUS8_HUMAN	L	62	ENSP00000253669:M62L;ENSP00000395298:M62L	ENSP00000253669:M62L	M	-	1	0	HAUS8	17034553	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	-0.360000	0.07622	-0.611000	0.05709	-0.379000	0.06801	ATG		0.537	HAUS8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463015.1	NM_001011699		19	385	0	0	0	1	0	19	385				
PODXL	5420	broad.mit.edu	37	7	131196176	131196176	+	Silent	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:131196176C>T	ENST00000378555.3	-	2	364	c.117G>A	c.(115-117)acG>acA	p.T39T	PODXL_ENST00000537928.1_Silent_p.T39T|PODXL_ENST00000541194.1_Silent_p.T41T|PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000322985.9_Silent_p.T39T			O00592	PODXL_HUMAN	podocalyxin-like	39	Thr-rich.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|epithelial tube formation (GO:0072175)|glomerular visceral epithelial cell development (GO:0072015)|leukocyte migration (GO:0050900)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-cell adhesion (GO:0022408)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|regulation of microvillus assembly (GO:0032534)	apical plasma membrane (GO:0016324)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|slit diaphragm (GO:0036057)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					TAGATGAGTCCGTAGTAGTCT	0.527																																						ENST00000541194.1																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24						c.(121-123)acG>acA		podocalyxin-like							191.0	182.0	185.0					7																	131196176		2203	4300	6503	SO:0001819	synonymous_variant	5420				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		g.chr7:131196176C>T		CCDS34755.1, CCDS47714.1	7q32-q33	2008-07-18			ENSG00000128567	ENSG00000128567			9171	protein-coding gene	gene with protein product		602632					Standard	NM_001018111		Approved	PCLP, Gp200, PC	uc003vqx.4	O00592	OTTHUMG00000154918	ENST00000378555.3:c.117G>A	7.37:g.131196176C>T						PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000322985.9_Silent_p.T39T|PODXL_ENST00000537928.1_Silent_p.T39T|PODXL_ENST00000378555.3_Silent_p.T39T	p.T41T	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN			2	380	-	Melanoma(18;0.162)		39			Thr-rich.		A6NHX8|Q52LZ7|Q53ER6	Silent	SNP	ENST00000378555.3	37	c.123G>A	CCDS34755.1																																																																																				0.527	PODXL-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000337627.2	NM_001018111		51	219	0	0	0	1	0	51	219				
SLC12A4	6560	broad.mit.edu	37	16	67980419	67980419	+	Missense_Mutation	SNP	G	G	A	rs370220716		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:67980419G>A	ENST00000316341.3	-	18	2499	c.2359C>T	c.(2359-2361)Cgg>Tgg	p.R787W	SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000422611.2_Missense_Mutation_p.R789W|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	787					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GAGTTATGCCGCATGCCTCCC	0.652																																						ENST00000422611.2																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29						c.(2365-2367)Cgg>Tgg		solute carrier family 12 (potassium/chloride transporter), member 4	Bumetanide(DB00887)|Potassium Chloride(DB00761)	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4396		0,0,2198	56.0	57.0	57.0		2359,2365,2341,2266,2359	2.2	1.0	16		57	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense	SLC12A4	NM_001145961.1,NM_001145962.1,NM_001145963.1,NM_001145964.1,NM_005072.4	101,101,101,101,101	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	787/1080,789/1088,781/1080,756/1055,787/1086	67980419	1,12993	2198	4299	6497	SO:0001583	missense	6560				cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity	g.chr16:67980419G>A		CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2359C>T	16.37:g.67980419G>A	ENSP00000318557:p.Arg787Trp					SLC12A4_ENST00000537830.2_Missense_Mutation_p.R781W|SLC12A4_ENST00000576616.1_Missense_Mutation_p.R787W|SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000541864.2_Missense_Mutation_p.R756W|SLC12A4_ENST00000316341.3_Missense_Mutation_p.R787W|SLC12A4_ENST00000572037.1_Missense_Mutation_p.R739W	p.R789W	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	17	2404	-		Ovarian(137;0.192)	787					B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	c.2365C>T	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	18.93	3.728223	0.69074	0.0	1.16E-4	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000316341	D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07	4.57	2.23	0.28157	.	0.048575	0.85682	D	0.000000	D	0.94837	0.8332	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D	0.63046	0.989;0.986;0.992;0.992;0.992;0.986	P;P;D;P;P;P	0.63381	0.877;0.582;0.914;0.761;0.828;0.582	D	0.93878	0.7168	10	0.87932	D	0	.	11.329	0.49465	0.0:0.0:0.3051:0.6949	.	789;787;756;781;787;787	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	W	789;756;781;787	ENSP00000395983:R789W;ENSP00000438334:R756W;ENSP00000445962:R781W;ENSP00000318557:R787W	ENSP00000318557:R787W	R	-	1	2	SLC12A4	66537920	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	3.502000	0.53332	0.220000	0.20860	-0.262000	0.10625	CGG		0.652	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072		5	290	0	0	0	1	0	5	290				
KRT35	3886	broad.mit.edu	37	17	39633889	39633889	+	Silent	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:39633889G>A	ENST00000393989.1	-	6	1143	c.1101C>T	c.(1099-1101)gcC>gcT	p.A367A	KRT35_ENST00000246639.2_Silent_p.A337A	NM_002280.4	NP_002271.3	Q92764	KRT35_HUMAN	keratin 35	367	Coil 2.|Rod.				anatomical structure morphogenesis (GO:0009653)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.A367A(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCCGGATCTCGGCCAGCTGGG	0.647																																						ENST00000246639.2																			2	Substitution - coding silent(2)	p.A367A(2)	prostate(1)|kidney(1)	NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1009-1011)gcC>gcT		keratin 35							58.0	59.0	59.0					17																	39633889		2203	4300	6503	SO:0001819	synonymous_variant	3886				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	g.chr17:39633889G>A	X90762	CCDS11394.2	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000197079	ENSG00000197079		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6453	protein-coding gene	gene with protein product	"""hard keratin type I 5"""	602764	"""keratin, hair, acidic, 5"""	KRTHA5		8823373, 16831889	Standard	NM_002280		Approved	Ha-5	uc002hws.3	Q92764	OTTHUMG00000133425	ENST00000393989.1:c.1101C>T	17.37:g.39633889G>A						KRT35_ENST00000393989.1_Silent_p.A367A	p.A337A			Q92764	KRT35_HUMAN			6	1143	-		Breast(137;0.000286)	367			Coil 2.|Rod.		O76012|Q92651	Silent	SNP	ENST00000393989.1	37	c.1011C>T	CCDS11394.2																																																																																				0.647	KRT35-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_002280		8	322	0	0	0	1	0	8	322				
CPB1	1360	broad.mit.edu	37	3	148563359	148563359	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:148563359G>A	ENST00000491148.1	+	10	1261	c.927G>A	c.(925-927)atG>atA	p.M309I	CPB1_ENST00000282957.4_Missense_Mutation_p.M309I			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	309						extracellular region (GO:0005576)	carboxypeptidase activity (GO:0004180)|metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACTCCCAAATGATGATCTACC	0.423																																						ENST00000491148.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(925-927)atG>atA		carboxypeptidase B1 (tissue)							141.0	134.0	137.0					3																	148563359		2203	4300	6503	SO:0001583	missense	1360				proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	g.chr3:148563359G>A	AJ224866	CCDS33874.1	3q24	2012-02-10			ENSG00000153002	ENSG00000153002	3.4.17.2		2299	protein-coding gene	gene with protein product	"""pancreatic carboxypeptidase B"", ""tissue carboxypeptidase B"", ""protaminase"""	114852					Standard	XM_005247124		Approved		uc003ewl.3	P15086	OTTHUMG00000159520	ENST00000491148.1:c.927G>A	3.37:g.148563359G>A	ENSP00000417222:p.Met309Ile					CPB1_ENST00000282957.4_Missense_Mutation_p.M309I	p.M309I			P15086	CBPB1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)		10	1261	+			309					O60834|Q53XJ0|Q96BQ8	Missense_Mutation	SNP	ENST00000491148.1	37	c.927G>A	CCDS33874.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804211	0.50315	.	.	ENSG00000153002	ENST00000491148;ENST00000282957	T;T	0.10382	2.88;2.88	5.69	5.69	0.88448	Peptidase M14, carboxypeptidase A (4);	0.189388	0.56097	D	0.000025	T	0.22859	0.0552	M	0.67700	2.07	0.48696	D	0.999698	P	0.38992	0.653	P	0.47102	0.537	T	0.00180	-1.1949	10	0.87932	D	0	.	14.9509	0.71074	0.0702:0.0:0.9298:0.0	.	309	P15086	CBPB1_HUMAN	I	309	ENSP00000417222:M309I;ENSP00000282957:M309I	ENSP00000282957:M309I	M	+	3	0	CPB1	150046049	1.000000	0.71417	0.994000	0.49952	0.035000	0.12851	3.756000	0.55205	2.677000	0.91161	0.655000	0.94253	ATG		0.423	CPB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355928.1	NM_001871		66	278	0	0	0	1	0	66	278				
ZNF804A	91752	broad.mit.edu	37	2	185802417	185802417	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:185802417C>T	ENST00000302277.6	+	4	2888	c.2294C>T	c.(2293-2295)tCa>tTa	p.S765L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	765							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATGAATGAATCAGAAAGATTC	0.338																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2293-2295)tCa>tTa		zinc finger protein 804A							54.0	56.0	55.0					2																	185802417		2203	4299	6502	SO:0001583	missense	91752					intracellular	zinc ion binding	g.chr2:185802417C>T	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2294C>T	2.37:g.185802417C>T	ENSP00000303252:p.Ser765Leu						p.S765L	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2888	+			765					A7E253|Q6ZN26	Missense_Mutation	SNP	ENST00000302277.6	37	c.2294C>T	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.022703	0.54683	.	.	ENSG00000170396	ENST00000302277	T	0.05925	3.37	5.85	5.85	0.93711	.	0.288957	0.24764	N	0.035786	T	0.09730	0.0239	L	0.47716	1.5	0.35829	D	0.825133	P	0.35077	0.483	B	0.33392	0.163	T	0.06881	-1.0802	10	0.87932	D	0	-6.925	19.1378	0.93435	0.0:1.0:0.0:0.0	.	765	Q7Z570	Z804A_HUMAN	L	765	ENSP00000303252:S765L	ENSP00000303252:S765L	S	+	2	0	ZNF804A	185510662	0.129000	0.22400	0.694000	0.30210	0.985000	0.73830	2.805000	0.47939	2.755000	0.94549	0.655000	0.94253	TCA		0.338	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		67	264	0	0	0	1	0	67	264				
LOC645752	645752	broad.mit.edu	37	15	78211517	78211517	+	lincRNA	SNP	C	C	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr15:78211517C>G	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							TTGCTCAGGACACTCAAGGCC	0.557																																						ENST00000565869.1																			0																																																			0							g.chr15:78211517C>G																													15.37:g.78211517C>G						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.557	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	614	0	0	0	1	0	6	614				
C21orf59	56683	broad.mit.edu	37	21	33975451	33975451	+	Intron	SNP	T	T	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr21:33975451T>A	ENST00000290155.3	-	5	1289				C21orf59_ENST00000540881.1_Missense_Mutation_p.N173I|AP000275.65_ENST00000553001.1_Intron|C21orf59_ENST00000382549.4_Missense_Mutation_p.N229I	NM_021254.2	NP_067077.1	P57076	CU059_HUMAN	chromosome 21 open reading frame 59							cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						TACTGACACATTAAAGCAAAA	0.333																																						ENST00000382549.4																			0				endometrium(2)|large_intestine(1)|prostate(1)|skin(1)	5						c.(685-687)aAt>aTt		chromosome 21 open reading frame 59							129.0	124.0	126.0					21																	33975451		2203	4300	6503	SO:0001627	intron_variant	56683					cytosol|nucleus		g.chr21:33975451T>A	AF282851	CCDS13617.1	21q22.11	2014-02-03	2003-07-22		ENSG00000159079	ENSG00000159079			1301	protein-coding gene	gene with protein product		615494	"""chromosome 21 open reading frame 48"""	C21orf48		24094744	Standard	NM_021254		Approved	FLJ20467, FBB18, CILD26	uc002yqc.3	P57076	OTTHUMG00000179510	ENST00000290155.3:c.666+19A>T	21.37:g.33975451T>A						C21ORF59_ENST00000607686.1_Intron|C21orf59_ENST00000290155.3_Intron|C21orf59_ENST00000540881.1_Missense_Mutation_p.N173I	p.N229I			P57076	CU059_HUMAN			5	1028	-			0					Q53FH0	Missense_Mutation	SNP	ENST00000290155.3	37	c.686A>T	CCDS13617.1	.	.	.	.	.	.	.	.	.	.	T	9.487	1.099630	0.20552	.	.	ENSG00000159079	ENST00000382549;ENST00000543202;ENST00000540881	.	.	.	3.07	0.278	0.15673	.	.	.	.	.	T	0.29190	0.0726	.	.	.	0.09310	N	1	B;B;B	0.10296	0.0;0.0;0.003	B;B;B	0.10450	0.002;0.001;0.005	T	0.26360	-1.0105	7	0.51188	T	0.08	.	6.6463	0.22936	0.3697:0.0:0.0:0.6302	.	173;229;110	F5GXV2;D3DSE6;Q8N9H5	.;.;.	I	229;229;173	.	ENSP00000371989:N229I	N	-	2	0	C21orf59	32897322	0.001000	0.12720	0.001000	0.08648	0.057000	0.15508	0.617000	0.24359	0.375000	0.24679	0.533000	0.62120	AAT		0.333	C21orf59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000139431.1	NM_021254		61	251	0	0	0	1	0	61	251				
TNXB	7148	broad.mit.edu	37	6	32046935	32046935	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:32046935C>T	ENST00000375244.3	-	11	4451	c.4250G>A	c.(4249-4251)cGt>cAt	p.R1417H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H|RNA5SP206_ENST00000516703.1_RNA			P22105	TENX_HUMAN	tenascin XB	1504	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCCCCCAACACGCACCGCCCG	0.662																																						ENST00000375244.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						c.(4249-4251)cGt>cAt		tenascin XB							105.0	120.0	115.0					6																	32046935		1305	2558	3863	SO:0001583	missense	7148				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	g.chr6:32046935C>T	X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.4250G>A	6.37:g.32046935C>T	ENSP00000364393:p.Arg1417His					TNXB_ENST00000375247.2_Missense_Mutation_p.R1417H	p.R1417H			P22105	TENX_HUMAN			11	4451	-			1504			Fibronectin type-III 6.		P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37	c.4250G>A		.	.	.	.	.	.	.	.	.	.	C	13.46	2.244413	0.39697	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.57752	0.38;0.38	5.52	4.64	0.57946	.	0.000000	0.41396	D	0.000889	T	0.34978	0.0916	M	0.67397	2.05	0.29740	N	0.837148	P	0.50617	0.937	P	0.47645	0.553	T	0.22382	-1.0218	10	0.13108	T	0.6	.	9.6088	0.39650	0.1602:0.6853:0.1545:0.0	.	1417	P22105-3	.	H	1417	ENSP00000364393:R1417H;ENSP00000364396:R1417H	ENSP00000364393:R1417H	R	-	2	0	TNXB	32154913	0.459000	0.25768	0.972000	0.41901	0.048000	0.14542	0.667000	0.25112	1.459000	0.47892	0.591000	0.81541	CGT		0.662	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105		112	417	0	0	0	1	0	112	417				
LRRC37A4P	55073	broad.mit.edu	37	17	43587730	43587730	+	RNA	SNP	A	A	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:43587730A>C	ENST00000579913.1	-	0	1394				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		GTATTGATTCATTTTATTCAT	0.343																																						ENST00000253803.2																			0																																																			0							g.chr17:43587730A>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587730A>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.343	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		5	215	0	0	0	1	0	5	215				
IGHV1-58	28464	broad.mit.edu	37	14	107078487	107078487	+	RNA	SNP	G	G	A	rs367962519		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:107078487G>A	ENST00000390628.2	-	0	297									immunoglobulin heavy variable 1-58																		ACTTCTGTGCGTAGTTTGTGT	0.542																																						ENST00000390628.2																			0															A		1,4195		0,1,2097	157.0	166.0	163.0			-0.9	0.0	14		163	2,8436		0,2,4217	no	intergenic				0,3,6314	AA,AG,GG		0.0237,0.0238,0.0237			107078487	3,12631	2098	4219	6317			0							g.chr14:107078487G>A	M29809		14q32.33	2012-02-08			ENSG00000211968	ENSG00000211968		"""Immunoglobulins / IGH locus"""	5555	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151953		14.37:g.107078487G>A														0	297	-									RNA	SNP	ENST00000390628.2	37																																																																																						0.542	IGHV1-58-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324599.1	NG_001019		138	428	0	0	0	1	0	138	428				
CHML	1122	broad.mit.edu	37	1	241798099	241798099	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:241798099C>T	ENST00000366553.1	-	1	1133	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K	OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	324					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTTAAGTATTCTGAAAATGAA	0.343																																						ENST00000366553.1																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26						c.(970-972)Gaa>Aaa		choroideremia-like (Rab escort protein 2)							110.0	113.0	112.0					1																	241798099		2203	4299	6502	SO:0001583	missense	1122				intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	g.chr1:241798099C>T	X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.970G>A	1.37:g.241798099C>T	ENSP00000355511:p.Glu324Lys					OPN3_ENST00000469376.1_Intron|OPN3_ENST00000331838.5_Intron|OPN3_ENST00000366554.2_Intron	p.E324K	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0125)		1	1133	-	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	324					B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	c.970G>A	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	C	17.34	3.363993	0.61513	.	.	ENSG00000203668	ENST00000366553	T	0.61510	0.1	4.96	4.96	0.65561	.	0.286583	0.37012	N	0.002299	T	0.63873	0.2548	.	.	.	0.48288	D	0.999624	P	0.35923	0.528	P	0.45099	0.469	T	0.66862	-0.5816	9	0.66056	D	0.02	-7.2311	16.126	0.81395	0.0:1.0:0.0:0.0	.	324	P26374	RAE2_HUMAN	K	324	ENSP00000355511:E324K	ENSP00000355511:E324K	E	-	1	0	CHML	239864722	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	3.515000	0.53429	2.752000	0.94435	0.655000	0.94253	GAA		0.343	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821		15	380	0	0	0	1	0	15	380				
ANKK1	255239	broad.mit.edu	37	11	113270540	113270540	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:113270540G>A	ENST00000303941.3	+	8	1943	c.1849G>A	c.(1849-1851)Gca>Aca	p.A617T		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	617							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.A617S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		AGAGAGCCACGCAAACATGGG	0.637																																						ENST00000303941.3																			1	Substitution - Missense(1)	p.A617S(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29						c.(1849-1851)Gca>Aca		ankyrin repeat and kinase domain containing 1							21.0	26.0	24.0					11																	113270540		2122	4246	6368	SO:0001583	missense	255239						ATP binding|protein serine/threonine kinase activity	g.chr11:113270540G>A	AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	ENST00000303941.3:c.1849G>A	11.37:g.113270540G>A	ENSP00000306678:p.Ala617Thr						p.A617T	NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)	8	1943	+		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)	617						Missense_Mutation	SNP	ENST00000303941.3	37	c.1849G>A	CCDS44734.1	.	.	.	.	.	.	.	.	.	.	G	4.640	0.119014	0.08881	.	.	ENSG00000170209	ENST00000303941	T	0.25912	1.77	4.87	2.91	0.33838	Ankyrin repeat-containing domain (4);	0.343915	0.24211	N	0.040540	T	0.23886	0.0578	M	0.62266	1.93	0.09310	N	1	B	0.22414	0.069	B	0.17979	0.02	T	0.19745	-1.0296	10	0.48119	T	0.1	-3.4949	7.1624	0.25671	0.1698:0.0:0.693:0.1372	.	617	Q8NFD2	ANKK1_HUMAN	T	617	ENSP00000306678:A617T	ENSP00000306678:A617T	A	+	1	0	ANKK1	112775750	0.999000	0.42202	0.008000	0.14137	0.045000	0.14185	3.594000	0.54008	0.231000	0.21079	-1.119000	0.02030	GCA		0.637	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395830.1	NM_178510		14	51	0	0	0	1	0	14	51				
LILRA2	11027	broad.mit.edu	37	19	55086476	55086476	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:55086476G>T	ENST00000251377.3	+	5	764	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.D211Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.D199Y|LILRA2_ENST00000391738.3_Missense_Mutation_p.D211Y|LILRB1_ENST00000448689.1_Intron			Q8N149	LIRA2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2	211	Ig-like C2-type 2.				defense response (GO:0006952)|immune system process (GO:0002376)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	antigen binding (GO:0003823)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		TCTACCCAGTGATCTCCTGGA	0.587																																						ENST00000251377.3																			0				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50						c.(631-633)Gat>Tat		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2							138.0	137.0	138.0					19																	55086476		2203	4300	6503	SO:0001583	missense	0							g.chr19:55086476G>T	U82275	CCDS12900.1, CCDS46179.1, CCDS74453.1	19q13.4	2013-01-11			ENSG00000239998	ENSG00000239998		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6603	protein-coding gene	gene with protein product		604812				9079806, 9548455	Standard	XM_005258452		Approved	LIR-7, ILT1, CD85h, LIR7		Q8N149	OTTHUMG00000065703	ENST00000251377.3:c.631G>T	19.37:g.55086476G>T	ENSP00000251377:p.Asp211Tyr					LILRA2_ENST00000251376.3_Missense_Mutation_p.D211Y|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.D199Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.D211Y	p.D211Y						GBM - Glioblastoma multiforme(193;0.0963)	5	764	+								O75020	Missense_Mutation	SNP	ENST00000251377.3	37	c.631G>T	CCDS46179.1	.	.	.	.	.	.	.	.	.	.	G	12.55	1.971086	0.34754	.	.	ENSG00000239998	ENST00000439534;ENST00000251377;ENST00000391738;ENST00000251376;ENST00000391737	T;T;T;T;T	0.01051	5.4;5.4;5.4;5.4;5.4	2.8	1.75	0.24633	Immunoglobulin-like fold (1);	1.008970	0.07965	N	0.983077	T	0.08313	0.0207	M	0.93808	3.46	0.09310	N	0.999993	P;D;P;D	0.89917	0.748;0.993;0.808;1.0	B;P;B;D	0.69824	0.246;0.906;0.281;0.966	T	0.18967	-1.0320	9	.	.	.	.	5.0171	0.14343	0.1716:0.0:0.8284:0.0	.	211;199;211;211	E9PDF4;A8MZH0;Q8N149;Q8N149-2	.;.;LIRA2_HUMAN;.	Y	211;211;211;211;199	ENSP00000388131:D211Y;ENSP00000251377:D211Y;ENSP00000375618:D211Y;ENSP00000251376:D211Y;ENSP00000375617:D199Y	.	D	+	1	0	LILRA2	59778288	0.001000	0.12720	0.059000	0.19551	0.037000	0.13140	0.087000	0.14958	1.570000	0.49709	0.400000	0.26472	GAT		0.587	LILRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000140813.2			138	274	1	0	1.9732e-51	1	2.25274e-51	138	274				
PTPRE	5791	broad.mit.edu	37	10	129877829	129877829	+	Missense_Mutation	SNP	G	G	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:129877829G>T	ENST00000254667.3	+	20	2177	c.1898G>T	c.(1897-1899)gGa>gTa	p.G633V	PTPRE_ENST00000419012.2_Missense_Mutation_p.G633V|PTPRE_ENST00000306042.5_Missense_Mutation_p.G575V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	633	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				negative regulation of insulin receptor signaling pathway (GO:0046627)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of mast cell activation (GO:0033003)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)			Alendronate(DB00630)	TGCAGTGCCGGAGCTGGGCGA	0.483																																					Colon(52;977 1184 20575 41685)	ENST00000254667.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22						c.(1897-1899)gGa>gTa		protein tyrosine phosphatase, receptor type, E							103.0	100.0	101.0					10																	129877829		2203	4300	6503	SO:0001583	missense	5791				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr10:129877829G>T	AF406557	CCDS7657.1, CCDS7658.1	10q26	2011-06-09			ENSG00000132334	ENSG00000132334		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9669	protein-coding gene	gene with protein product		600926				8595895	Standard	NM_130435		Approved	PTPE	uc001lkb.3	P23469	OTTHUMG00000019254	ENST00000254667.3:c.1898G>T	10.37:g.129877829G>T	ENSP00000254667:p.Gly633Val					PTPRE_ENST00000419012.2_Missense_Mutation_p.G633V|PTPRE_ENST00000306042.5_Missense_Mutation_p.G575V	p.G633V	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN			20	2177	+		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)	633			Tyrosine-protein phosphatase 2.		Q13345|Q5VWH3|Q5VWH4|Q96KQ6	Missense_Mutation	SNP	ENST00000254667.3	37	c.1898G>T	CCDS7657.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364034	0.82353	.	.	ENSG00000132334	ENST00000254667;ENST00000419012;ENST00000306042	T;T;T	0.73363	-0.74;-0.74;-0.74	4.65	4.65	0.58169	Protein-tyrosine phosphatase, receptor/non-receptor type (3);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.92655	0.7666	H	0.99573	4.635	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	D	0.95911	0.8923	10	0.87932	D	0	.	18.0677	0.89396	0.0:0.0:1.0:0.0	.	633;575;633	Q5VWH4;P23469-2;P23469	.;.;PTPRE_HUMAN	V	633;633;575	ENSP00000254667:G633V;ENSP00000402337:G633V;ENSP00000303350:G575V	ENSP00000254667:G633V	G	+	2	0	PTPRE	129767819	1.000000	0.71417	0.870000	0.34147	0.831000	0.47069	9.519000	0.98025	2.560000	0.86352	0.655000	0.94253	GGA		0.483	PTPRE-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050990.1			67	195	1	0	2.72187e-29	1	3.05652e-29	67	195				
SPTA1	6708	broad.mit.edu	37	1	158653248	158653248	+	Silent	SNP	C	C	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:158653248C>A	ENST00000368147.4	-	3	483	c.303G>T	c.(301-303)gtG>gtT	p.V101V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	101					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATTTTGTTTGCACCTCTGCTT	0.398																																						ENST00000368148.3																			0				NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307						c.(301-303)gtG>gtT		spectrin, alpha, erythrocytic 1 (elliptocytosis 2)							226.0	200.0	208.0					1																	158653248		1856	4106	5962	SO:0001819	synonymous_variant	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158653248C>A	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.303G>T	1.37:g.158653248C>A						SPTA1_ENST00000368147.3_Silent_p.V101V	p.V101V	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN			3	483	-	all_hematologic(112;0.0378)		101					Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	c.303G>T	CCDS41423.1																																																																																				0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126		6	680	1	0	0.0215528	1	0.0217112	6	680				
COLEC12	81035	broad.mit.edu	37	18	335116	335116	+	Missense_Mutation	SNP	G	G	A	rs565737372		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr18:335116G>A	ENST00000400256.3	-	6	1649	c.1442C>T	c.(1441-1443)gCg>gTg	p.A481V		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	481	Collagen-like 2.				carbohydrate mediated signaling (GO:0009756)|defense response (GO:0006952)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)|phagocytosis, recognition (GO:0006910)|protein homooligomerization (GO:0051260)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galactose binding (GO:0005534)|low-density lipoprotein particle binding (GO:0030169)|metal ion binding (GO:0046872)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				TCTCTCACCCGCAGGGCCAGG	0.652																																						ENST00000400256.3																			0				cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46						c.(1441-1443)gCg>gTg		collectin sub-family member 12							33.0	34.0	34.0					18																	335116		2192	4288	6480	SO:0001583	missense	81035				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	g.chr18:335116G>A	AB038518	CCDS32782.1	18p11.32	2013-09-19			ENSG00000158270	ENSG00000158270		"""Collectins"""	16016	protein-coding gene	gene with protein product		607621				11162630	Standard	NM_130386		Approved	SRCL, CL-P1, SCARA4	uc002kkm.3	Q5KU26	OTTHUMG00000178145	ENST00000400256.3:c.1442C>T	18.37:g.335116G>A	ENSP00000383115:p.Ala481Val						p.A481V	NM_130386.2	NP_569057.1	Q5KU26	COL12_HUMAN			6	1649	-		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)	481			Collagen-like 2.		Q6P9F2|Q8TCR2|Q8WZA4|Q9BY85|Q9BYH7	Missense_Mutation	SNP	ENST00000400256.3	37	c.1442C>T	CCDS32782.1	.	.	.	.	.	.	.	.	.	.	G	3.103	-0.184432	0.06340	.	.	ENSG00000158270	ENST00000400256	T	0.17213	2.29	5.67	3.86	0.44501	.	0.260619	0.44483	D	0.000456	T	0.09774	0.0240	N	0.20328	0.56	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.17868	-1.0355	10	0.26408	T	0.33	-17.5347	8.4346	0.32780	0.1196:0.0:0.7477:0.1327	.	481	Q5KU26	COL12_HUMAN	V	481	ENSP00000383115:A481V	ENSP00000383115:A481V	A	-	2	0	COLEC12	325116	0.000000	0.05858	0.137000	0.22149	0.025000	0.11179	0.946000	0.29069	2.659000	0.90383	0.655000	0.94253	GCG		0.652	COLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440746.1			9	268	0	0	0	1	0	9	268				
IL18RAP	8807	broad.mit.edu	37	2	103068312	103068312	+	Missense_Mutation	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:103068312A>G	ENST00000264260.2	+	12	2060	c.1471A>G	c.(1471-1473)Atc>Gtc	p.I491V	IL18RAP_ENST00000409369.1_Missense_Mutation_p.I349V	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	491	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGGACCCAGTATCTTTGAACT	0.383																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1471-1473)Atc>Gtc		interleukin 18 receptor accessory protein							132.0	134.0	133.0					2																	103068312		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103068312A>G	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1471A>G	2.37:g.103068312A>G	ENSP00000264260:p.Ile491Val					IL18RAP_ENST00000409369.1_Missense_Mutation_p.I349V	p.I491V	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			12	2060	+			491			TIR.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1471A>G	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	A	0.008	-1.864991	0.00547	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.07800	3.16;3.16	6.02	-7.56	0.01322	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.966608	0.08561	N	0.927536	T	0.03871	0.0109	N	0.13352	0.335	0.09310	N	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.46978	-0.9152	10	0.13470	T	0.59	.	10.3177	0.43747	0.5517:0.241:0.2073:0.0	.	491	O95256	I18RA_HUMAN	V	491;349	ENSP00000264260:I491V;ENSP00000387201:I349V	ENSP00000264260:I491V	I	+	1	0	IL18RAP	102434744	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	-0.198000	0.09505	-1.839000	0.01186	-0.917000	0.02746	ATC		0.383	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		19	407	0	0	0	1	0	19	407				
FCER1G	2207	broad.mit.edu	37	1	161187859	161187859	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:161187859C>T	ENST00000289902.1	+	2	158	c.133C>T	c.(133-135)Cga>Tga	p.R45*	AL590714.1_ENST00000594609.1_5'Flank|FCER1G_ENST00000367992.3_Nonsense_Mutation_p.R45*|FCER1G_ENST00000490414.1_Intron	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	45					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|Fc receptor mediated stimulatory signaling pathway (GO:0002431)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|negative regulation of mast cell apoptotic process (GO:0033026)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|phagocytosis, engulfment (GO:0006911)|platelet activation (GO:0030168)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of phagocytosis (GO:0050766)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I hypersensitivity (GO:0001812)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation of type III hypersensitivity (GO:0001805)|protein localization to plasma membrane (GO:0072659)|regulation of platelet activation (GO:0010543)|serotonin secretion by platelet (GO:0002554)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|Fc-epsilon receptor I complex (GO:0032998)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	IgE receptor activity (GO:0019767)			endometrium(1)|lung(5)	6	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Benzylpenicilloyl Polylysine(DB00895)	CCTCTACTGTCGACTGAAGGT	0.562																																						ENST00000289902.1																			0				endometrium(1)|lung(5)	6						c.(133-135)Cga>Tga		Fc fragment of IgE, high affinity I, receptor for; gamma polypeptide	Benzylpenicilloyl Polylysine(DB00895)						145.0	133.0	137.0					1																	161187859		2203	4300	6503	SO:0001587	stop_gained	2207				platelet activation	integral to plasma membrane		g.chr1:161187859C>T		CCDS1225.1	1q23	2008-02-05			ENSG00000158869	ENSG00000158869			3611	protein-coding gene	gene with protein product		147139				2138619	Standard	NM_004106		Approved		uc001fyz.1	P30273	OTTHUMG00000034343	ENST00000289902.1:c.133C>T	1.37:g.161187859C>T	ENSP00000289902:p.Arg45*					FCER1G_ENST00000490414.1_Intron|FCER1G_ENST00000367992.3_Nonsense_Mutation_p.R45*	p.R45*	NM_004106.1	NP_004097.1	P30273	FCERG_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	158	+	all_cancers(52;1.35e-17)|all_hematologic(112;0.093)		45					Q5VTW4	Nonsense_Mutation	SNP	ENST00000289902.1	37	c.133C>T	CCDS1225.1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.797467	0.90538	.	.	ENSG00000158869	ENST00000367992;ENST00000289902	.	.	.	5.67	4.73	0.59995	.	0.000000	0.53938	D	0.000051	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.7665	0.51933	0.1759:0.8241:0.0:0.0	.	.	.	.	X	45	.	ENSP00000289902:R45X	R	+	1	2	FCER1G	159454483	0.983000	0.35010	1.000000	0.80357	0.992000	0.81027	1.508000	0.35769	1.348000	0.45733	0.561000	0.74099	CGA		0.562	FCER1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083012.1	NM_004106		117	792	0	0	0	1	0	117	792				
KLHDC8A	55220	broad.mit.edu	37	1	205312363	205312363	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:205312363C>T	ENST00000367156.3	-	5	1186	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A124T|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A124T|KLHDC8A_ENST00000606529.1_5'Flank	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	124										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGCCTTTGGCCGTGACAGAA	0.597																																						ENST00000367156.3																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14						c.(370-372)Gcc>Acc		kelch domain containing 8A							63.0	63.0	63.0					1																	205312363		2198	4286	6484	SO:0001583	missense	55220							g.chr1:205312363C>T		CCDS30985.1	1q32.1	2008-02-05			ENSG00000162873	ENSG00000162873			25573	protein-coding gene	gene with protein product		614503					Standard	NM_018203		Approved	FLJ10748	uc031prx.1	Q8IYD2	OTTHUMG00000037199	ENST00000367156.3:c.370G>A	1.37:g.205312363C>T	ENSP00000356124:p.Ala124Thr					KLHDC8A_ENST00000460687.1_Intron|KLHDC8A_ENST00000537168.1_Intron|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.A124T|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.A124T	p.A124T	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		5	1186	-	Breast(84;0.23)		124					B3KU70|Q9NVG5	Missense_Mutation	SNP	ENST00000367156.3	37	c.370G>A	CCDS30985.1	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340113	0.41398	.	.	ENSG00000162873	ENST00000367155;ENST00000367156;ENST00000539253	T;T;T	0.73789	-0.78;-0.78;-0.78	5.65	4.55	0.56014	Kelch-type beta propeller (1);	0.248571	0.40728	N	0.001026	T	0.63426	0.2510	L	0.38175	1.15	0.40190	D	0.977394	B	0.02656	0.0	B	0.01281	0.0	T	0.58148	-0.7687	10	0.14252	T	0.57	-28.5788	15.1784	0.72934	0.0:0.9199:0.0:0.0801	.	124	Q8IYD2	KLD8A_HUMAN	T	124	ENSP00000356123:A124T;ENSP00000356124:A124T;ENSP00000442229:A124T	ENSP00000356123:A124T	A	-	1	0	KLHDC8A	203578986	0.996000	0.38824	0.991000	0.47740	0.992000	0.81027	3.918000	0.56432	2.646000	0.89796	0.655000	0.94253	GCC		0.597	KLHDC8A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090397.1	NM_018203		6	496	0	0	0	1	0	6	496				
EEF1A2	1917	broad.mit.edu	37	20	62129078	62129078	+	Silent	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr20:62129078G>A	ENST00000298049.7	-	1	109	c.39C>T	c.(37-39)atC>atT	p.I13I	EEF1A2_ENST00000217182.3_Silent_p.I13I			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	13	tr-type G.				positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CCACGTGGCCGATGACCACGA	0.602																																						ENST00000217182.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20						c.(37-39)atC>atT		eukaryotic translation elongation factor 1 alpha 2							170.0	145.0	154.0					20																	62129078		2202	4300	6502	SO:0001819	synonymous_variant	1917					nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	g.chr20:62129078G>A	AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.39C>T	20.37:g.62129078G>A						EEF1A2_ENST00000298049.7_Silent_p.I13I	p.I13I	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	BRCA - Breast invasive adenocarcinoma(10;1.22e-05)		2	204	-	all_cancers(38;9.45e-12)		13					B5BUF3|E1P5J1|P54266|Q0VGC7	Silent	SNP	ENST00000298049.7	37	c.39C>T	CCDS13522.1																																																																																				0.602	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1	NM_001958		5	571	0	0	0	1	0	5	571				
ZNF91	7644	broad.mit.edu	37	19	23544867	23544867	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:23544867T>C	ENST00000300619.7	-	4	1119	c.914A>G	c.(913-915)cAt>cGt	p.H305R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	305					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTGAAGAATGGCTAAAAGC	0.413																																						ENST00000300619.7																			0											c.(913-915)cAt>cGt		zinc finger protein 91							78.0	82.0	81.0					19																	23544867		2175	4288	6463	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23544867T>C	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.914A>G	19.37:g.23544867T>C	ENSP00000300619:p.His305Arg					ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.H273R	p.H305R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	1119	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	305					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.914A>G	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	T	0.014	-1.588219	0.00872	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17691	2.26;2.26	2.03	0.954	0.19595	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05640	0.0148	N	0.04043	-0.29	0.09310	N	1	B;B	0.26081	0.116;0.141	B;B	0.15484	0.007;0.013	T	0.41251	-0.9519	9	0.07030	T	0.85	.	6.7777	0.23628	0.0:0.1365:0.0:0.8635	.	273;305	Q05481-2;Q05481	.;ZNF91_HUMAN	R	305;273	ENSP00000300619:H305R;ENSP00000380272:H273R	ENSP00000300619:H305R	H	-	2	0	ZNF91	23336707	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.802000	0.00184	-0.005000	0.14395	-1.601000	0.00813	CAT		0.413	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		7	595	0	0	0	1	0	7	595				
TUBB8P7	197331	broad.mit.edu	37	16	90162620	90162620	+	RNA	SNP	T	T	G	rs567602838	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr16:90162620T>G	ENST00000564451.1	+	0	1973				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CTAGGTAAAGTGGGGAAGCAG	0.483													.|||	3	0.000599042	0.0015	0.0	5008	,	,		21669	0.0		0.0	False		,,,				2504	0.001					ENST00000564451.1																			0																																																			0							g.chr16:90162620T>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90162620T>G														0	1973	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.483	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		6	502	0	0	0	1	0	6	502				
UBB	7314	broad.mit.edu	37	17	16285497	16285497	+	Silent	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:16285497A>G	ENST00000395837.1	+	2	457	c.276A>G	c.(274-276)gaA>gaG	p.E92E	UBB_ENST00000535788.1_Intron|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.E92E|UBB_ENST00000302182.3_Silent_p.E92E|UBB_ENST00000578649.1_Intron	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	92	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)		p.E92E(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCACCCTGGAAGTGGAGCCCA	0.557																																					Melanoma(163;1126 3406 34901)	ENST00000302182.3																			2	Substitution - coding silent(2)	p.E92E(2)	endometrium(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(274-276)gaA>gaG		ubiquitin B																																				SO:0001819	synonymous_variant	7314				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	g.chr17:16285497A>G		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.276A>G	17.37:g.16285497A>G						UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.E92E|UBB_ENST00000395839.1_Silent_p.E92E|RP11-138I1.4_ENST00000583934.1_RNA	p.E92E	NM_018955.2	NP_061828.1	P0CG47	UBB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)	2	668	+			92			Ubiquitin-like 2.		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	ENST00000395837.1	37	c.276A>G	CCDS11177.1																																																																																				0.557	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000130459.1	NM_018955		7	264	0	0	0	1	0	7	264				
VCL	7414	broad.mit.edu	37	10	75849902	75849902	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:75849902G>A	ENST00000211998.4	+	10	1392	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	VCL_ENST00000372755.3_Missense_Mutation_p.R433H|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	433	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					GACATTCTACGTTCCCTTGGG	0.408																																						ENST00000211998.4																		VCL/ALK(4)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20						c.(1297-1299)cGt>cAt		vinculin							166.0	160.0	162.0					10																	75849902		2203	4300	6503	SO:0001583	missense	7414				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity	g.chr10:75849902G>A	M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.1298G>A	10.37:g.75849902G>A	ENSP00000211998:p.Arg433His					VCL_ENST00000372755.3_Missense_Mutation_p.R433H|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	p.R433H	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN			10	1392	+	Prostate(51;0.0112)		433			3 X 112 AA tandem repeats.|N-terminal globular head.		Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Missense_Mutation	SNP	ENST00000211998.4	37	c.1298G>A	CCDS7341.1	.	.	.	.	.	.	.	.	.	.	G	35	5.470139	0.96274	.	.	ENSG00000035403	ENST00000372755;ENST00000211998;ENST00000415462;ENST00000537043;ENST00000436396	T;T;T	0.36878	1.23;1.23;1.23	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.56307	0.1976	L	0.51422	1.61	0.80722	D	1	D;D;P	0.71674	0.998;0.995;0.469	D;D;B	0.71184	0.972;0.96;0.118	T	0.53885	-0.8375	10	0.52906	T	0.07	.	19.546	0.95297	0.0:0.0:1.0:0.0	.	360;433;433	F5H7T3;P18206-2;P18206	.;.;VINC_HUMAN	H	433;433;340;360;105	ENSP00000361841:R433H;ENSP00000211998:R433H;ENSP00000415489:R105H	ENSP00000211998:R433H	R	+	2	0	VCL	75519908	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	9.341000	0.97041	2.626000	0.88956	0.585000	0.79938	CGT		0.408	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_003373, NM_014000		10	393	0	0	0	1	0	10	393				
PCDHB3	56132	broad.mit.edu	37	5	140482147	140482147	+	Missense_Mutation	SNP	C	C	G	rs144773246	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:140482147C>G	ENST00000231130.2	+	1	1914	c.1914C>G	c.(1912-1914)caC>caG	p.H638Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	638	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				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)	p.H638Q(1)		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)			CGGCCAAGCACAGGCTGGTGG	0.697													C|||	5	0.000998403	0.0	0.0014	5008	,	,		16392	0.002		0.0	False		,,,				2504	0.002					ENST00000231130.2																			1	Substitution - Missense(1)	p.H638Q(1)	lung(1)	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.(1912-1914)caC>caG				C	GLN/HIS	8,3686		0,8,1839	21.0	23.0	22.0		1914	-2.8	0.8	5	dbSNP_134	22	0,7422		0,0,3711	no	missense	PCDHB3	NM_018937.2	24	0,8,5550	GG,GC,CC		0.0,0.2166,0.072	benign	638/797	140482147	8,11108	1847	3711	5558	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482147C>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.1914C>G	5.37:g.140482147C>G	ENSP00000231130:p.His638Gln						p.H638Q	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1914	+			638			Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1914C>G	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	C	0.681	-0.798298	0.02841	0.002166	0.0	ENSG00000113205	ENST00000231130	T	0.52526	0.66	4.38	-2.84	0.05751	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.20618	0.0496	N	0.10760	0.04	0.23555	N	0.997428	B	0.26672	0.156	B	0.30943	0.122	T	0.32903	-0.9889	9	0.02654	T	1	.	7.9075	0.29771	0.1045:0.1872:0.6227:0.0856	.	638	Q9Y5E6	PCDB3_HUMAN	Q	638	ENSP00000231130:H638Q	ENSP00000231130:H638Q	H	+	3	2	PCDHB3	140462331	0.000000	0.05858	0.777000	0.31699	0.880000	0.50808	-0.407000	0.07178	-0.244000	0.09639	0.556000	0.70494	CAC		0.697	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		8	277	0	0	0	1	0	8	277				
PCDH15	65217	broad.mit.edu	37	10	55587212	55587212	+	Silent	SNP	C	C	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:55587212C>G	ENST00000320301.6	-	32	4702	c.4308G>C	c.(4306-4308)ccG>ccC	p.P1436P	PCDH15_ENST00000361849.3_Silent_p.P1436P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000409834.1_Silent_p.P1047P|PCDH15_ENST00000414778.1_Silent_p.P1438P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000395432.2_Silent_p.P1396P|PCDH15_ENST00000373965.2_Silent_p.P1443P|PCDH15_ENST00000395445.1_Silent_p.P1443P	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1436	Poly-Pro.				equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				gcggcggcggcgggggcgCTG	0.582										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4327-4329)ccG>ccC		protocadherin-related 15							31.0	40.0	37.0					10																	55587212		2202	4299	6501	SO:0001819	synonymous_variant	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55587212C>G	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4308G>C	10.37:g.55587212C>G		HNSCC(58;0.16)				PCDH15_ENST00000414778.1_Silent_p.P1438P|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395433.1_Silent_p.P1411P|PCDH15_ENST00000395438.1_Silent_p.P1436P|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395430.1_Silent_p.P1433P|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000320301.6_Silent_p.P1436P|PCDH15_ENST00000409834.1_Silent_p.P1047P|PCDH15_ENST00000361849.3_Silent_p.P1436P|PCDH15_ENST00000395445.1_Silent_p.P1443P|PCDH15_ENST00000437009.1_Silent_p.P1365P|PCDH15_ENST00000395432.2_Silent_p.P1396P|PCDH15_ENST00000373957.3_Intron	p.P1443P	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			33	4723	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1436			Poly-Pro.		A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Silent	SNP	ENST00000320301.6	37	c.4329G>C	CCDS7248.1																																																																																				0.582	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		5	291	0	0	0	1	0	5	291				
NBPF3	84224	broad.mit.edu	37	1	21806606	21806606	+	Missense_Mutation	SNP	T	T	G	rs201055589		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:21806606T>G	ENST00000318249.5	+	11	1621	c.1271T>G	c.(1270-1272)tTt>tGt	p.F424C	NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C|NBPF3_ENST00000318220.6_Missense_Mutation_p.F368C	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	424	NBPF 3. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGGATAGATTTTATTCAACT	0.468																																						ENST00000318220.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20						c.(1102-1104)tTt>tGt		neuroblastoma breakpoint family, member 3							63.0	41.0	49.0					1																	21806606		2154	3794	5948	SO:0001583	missense	84224					cytoplasm		g.chr1:21806606T>G	BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1271T>G	1.37:g.21806606T>G	ENSP00000316782:p.Phe424Cys					NBPF3_ENST00000454000.2_Missense_Mutation_p.F354C|NBPF3_ENST00000318249.5_Missense_Mutation_p.F424C|NBPF3_ENST00000342104.5_Missense_Mutation_p.F412C	p.F368C			Q9H094	NBPF3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)	14	2151	+		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)	424			NBPF 2.		A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	ENST00000318249.5	37	c.1103T>G	CCDS216.1	126	0.057692307692307696	13	0.026422764227642278	16	0.04419889502762431	35	0.06118881118881119	62	0.08179419525065963	.	0.001	-4.102467	0.00002	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	0.658	-1.32	0.09201	DUF1220 (2);	.	.	.	.	T	0.00073	0.0002	N	0.00075	-2.25	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.11329	0.006;0.001;0.001	T	0.25187	-1.0139	8	0.02654	T	1	.	.	.	.	.	354;412;424	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	C	354;368;424;412;368	ENSP00000415711:F354C;ENSP00000316739:F368C;ENSP00000316782:F424C;ENSP00000340336:F412C;ENSP00000391865:F368C	ENSP00000316739:F368C	F	+	2	0	NBPF3	21679193	0.002000	0.14202	0.000000	0.03702	0.052000	0.14988	-1.071000	0.03437	-2.951000	0.00293	-1.884000	0.00543	TTT		0.468	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_032264		3	56	0	0	0	1	0	3	56				
USP35	57558	broad.mit.edu	37	11	77919947	77919947	+	Silent	SNP	G	G	A	rs555148298		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:77919947G>A	ENST00000529308.1	+	9	1791	c.1530G>A	c.(1528-1530)acG>acA	p.T510T	USP35_ENST00000526425.1_Silent_p.T241T|USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_Silent_p.T96T|USP35_ENST00000530267.1_Silent_p.T78T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	510	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CATCCTGGACGCCCTGGTTCA	0.622													G|||	1	0.000199681	0.0	0.0	5008	,	,		22590	0.0		0.0	False		,,,				2504	0.001					ENST00000529308.1																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23						c.(1528-1530)acG>acA		ubiquitin specific peptidase 35							90.0	93.0	92.0					11																	77919947		2023	4171	6194	SO:0001819	synonymous_variant	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77919947G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1530G>A	11.37:g.77919947G>A						USP35_ENST00000441408.2_Silent_p.T96T|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Silent_p.T241T|USP35_ENST00000530267.1_Silent_p.T78T	p.T510T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		9	1791	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		510						Silent	SNP	ENST00000529308.1	37	c.1530G>A	CCDS41693.1																																																																																				0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		130	395	0	0	0	1	0	130	395				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr15:102515299G>A	ENST00000557932.1	+	0	1145				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.G374S(10)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGGGGGCATCGGCAAGGCCAA	0.652																																						ENST00000557932.1																			10	Substitution - Missense(10)	p.G374S(10)	kidney(7)|prostate(2)|endometrium(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515299G>A			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515299G>A														0	1145	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	g	2.376	-0.343229	0.05243	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-23.1056	7.9382	0.29941	0.0:0.0:1.0:0.0	.	.	.	.	S	383;374	.	.	G	+	1	0	WASH3P	100332822	1.000000	0.71417	0.997000	0.53966	0.230000	0.25150	8.205000	0.89743	0.863000	0.35553	0.184000	0.17185	GGC		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		9	35	0	0	0	1	0	9	35				
OR1M1	125963	broad.mit.edu	37	19	9204125	9204125	+	Missense_Mutation	SNP	G	G	A	rs202009987		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:9204125G>A	ENST00000429566.3	+	1	271	c.205G>A	c.(205-207)Gtt>Att	p.V69I		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	69						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V69I(2)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCTGTCCCTGGTTGATTTCTG	0.557																																						ENST00000429566.3																			2	Substitution - Missense(2)	p.V69I(2)	prostate(1)|lung(1)	breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						c.(205-207)Gtt>Att		olfactory receptor, family 1, subfamily M, member 1							108.0	82.0	91.0					19																	9204125		2203	4300	6503	SO:0001583	missense	125963				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:9204125G>A		CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.205G>A	19.37:g.9204125G>A	ENSP00000401966:p.Val69Ile						p.V69I	NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN			1	271	+			69					B9EHA6|Q6IFJ3|Q96R91	Missense_Mutation	SNP	ENST00000429566.3	37	c.205G>A	CCDS32896.1	.	.	.	.	.	.	.	.	.	.	g	11.00	1.509904	0.27036	.	.	ENSG00000170929	ENST00000305465;ENST00000429566	T	0.02916	4.11	3.49	-0.909	0.10514	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000102	T	0.05960	0.0155	L	0.39397	1.21	0.09310	N	1	D	0.64830	0.994	D	0.70716	0.97	T	0.23154	-1.0196	10	0.54805	T	0.06	.	4.7447	0.13031	0.4655:0.159:0.3755:0.0	.	69	Q8NGA1	OR1M1_HUMAN	I	72;69	ENSP00000401966:V69I	ENSP00000303195:V72I	V	+	1	0	OR1M1	9065125	0.000000	0.05858	0.004000	0.12327	0.429000	0.31625	-5.071000	0.00154	-0.175000	0.10725	-0.508000	0.04489	GTT		0.557	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1			7	321	0	0	0	1	0	7	321				
TRIM51HP	440041	broad.mit.edu	37	11	55065679	55065679	+	RNA	SNP	G	G	T	rs533320790	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:55065679G>T	ENST00000526016.1	-	0	29					NR_038174.2				tripartite motif-containing 51H, pseudogene																		ACTGGGTCTAGGAAGTAGTTC	0.473													g|||	3	0.000599042	0.0008	0.0	5008	,	,		19637	0.001		0.001	False		,,,				2504	0.0					ENST00000526016.1																			0																																																			0							g.chr11:55065679G>T			11q11	2012-11-02			ENSG00000166007	ENSG00000166007		"""Triparite motif-containing / Pseudogenes"""	43977	pseudogene	pseudogene							Standard	NR_038174		Approved		uc021qjb.1		OTTHUMG00000166775		11.37:g.55065679G>T								NR_038174.2						0	29	-									RNA	SNP	ENST00000526016.1	37																																																																																						0.473	TRIM51HP-002	PUTATIVE	basic|exp_conf	processed_transcript	pseudogene	OTTHUMT00000391438.1			5	241	1	0	1.58986e-06	1	1.71505e-06	5	241				
SMAD4	4089	broad.mit.edu	37	18	48591919	48591919	+	Missense_Mutation	SNP	G	G	A	rs377767347		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr18:48591919G>A	ENST00000342988.3	+	9	1620	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H|SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	361	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.		R -> C (in JPS; dbSNP:rs80338963). {ECO:0000269|PubMed:9811934}.|R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		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.R361H(12)|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)		GGAGGAGATCGCTTTTGTTTG	0.413																																						ENST00000342988.3																			50	Whole gene deletion(36)|Substitution - Missense(12)|Unknown(2)	p.0?(36)|p.R361H(12)|p.?(2)	pancreas(26)|large_intestine(13)|lung(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|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	GRCh37	CM004254	SMAD4	M		c.(1081-1083)cGc>cAc		SMAD family member 4							167.0	138.0	148.0					18																	48591919		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.chr18:48591919G>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.1082G>A	18.37:g.48591919G>A	ENSP00000341551:p.Arg361His					SMAD4_ENST00000588745.1_Missense_Mutation_p.R265H|SMAD4_ENST00000398417.2_Missense_Mutation_p.R361H	p.R361H	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	1620	+		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)	361		R -> C (in JPS).|R -> H (in a colorectal cancer sample; somatic mutation).	MH2.		A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	c.1082G>A	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	G	35	5.477304	0.96291	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.98120	-4.73;-4.73	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	0.98852	0.9612	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99741	1.1015	10	0.87932	D	0	.	18.9646	0.92691	0.0:0.0:1.0:0.0	.	361	Q13485	SMAD4_HUMAN	H	361	ENSP00000341551:R361H;ENSP00000381452:R361H	ENSP00000341551:R361H	R	+	2	0	SMAD4	46845917	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.828000	0.86729	2.771000	0.95319	0.563000	0.77884	CGC		0.413	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359		61	144	0	0	0	1	0	61	144				
POTEG	404785	broad.mit.edu	37	14	19553760	19553760	+	Missense_Mutation	SNP	G	G	A	rs375902660		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:19553760G>A	ENST00000409832.3	+	1	396	c.344G>A	c.(343-345)aGc>aAc	p.S115N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	115										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AGCGGCAAGAGCAAAGTGGGC	0.597																																						ENST00000409832.3																			0				cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						c.(343-345)aGc>aAc		POTE ankyrin domain family, member G							391.0	424.0	413.0					14																	19553760		2201	4298	6499	SO:0001583	missense	404785							g.chr14:19553760G>A		CCDS73610.1	14q11.2	2013-01-10	2008-11-26	2008-11-26	ENSG00000222036	ENSG00000222036		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33896	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 4"""	608916	"""ANKRD26-like family C, member 2"""	A26C2			Standard	NR_027480		Approved	POTE14, POTE-14, POTE14alpha, CT104.4	uc001vuz.1	Q6S5H5	OTTHUMG00000170340	ENST00000409832.3:c.344G>A	14.37:g.19553760G>A	ENSP00000386971:p.Ser115Asn						p.S115N	NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN			1	396	+			115					A1L153|A6NMI9|Q6S5H6|Q6S8J2	Missense_Mutation	SNP	ENST00000409832.3	37	c.344G>A	CCDS32018.1	.	.	.	.	.	.	.	.	.	.	g	0.049	-1.256079	0.01457	.	.	ENSG00000222036	ENST00000409832	T	0.27256	1.68	.	.	.	.	.	.	.	.	T	0.12263	0.0298	L	0.37630	1.12	0.09310	N	1	B	0.21147	0.052	B	0.21708	0.036	T	0.41805	-0.9488	7	0.02654	T	1	.	.	.	.	.	115	Q6S5H5	POTEG_HUMAN	N	115	ENSP00000386971:S115N	ENSP00000386971:S115N	S	+	2	0	POTEG	18623760	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-2.058000	0.01394	-1.485000	0.01854	-1.526000	0.00926	AGC		0.597	POTEG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408579.1	NM_001005356		18	2459	0	0	0	1	0	18	2459				
FRG1	2483	broad.mit.edu	37	4	190878646	190878646	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr4:190878646G>T	ENST00000226798.4	+	6	748	c.526G>T	c.(526-528)Gaa>Taa	p.E176*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	176					mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E176*(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		AGGAGAAGAAGAAATGATCAA	0.373																																						ENST00000226798.4																			1	Substitution - Nonsense(1)	p.E176*(1)	central_nervous_system(1)	NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32						c.(526-528)Gaa>Taa		FSHD region gene 1							48.0	44.0	45.0					4																	190878646		2179	4274	6453	SO:0001587	stop_gained	2483				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus		g.chr4:190878646G>T	L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.526G>T	4.37:g.190878646G>T	ENSP00000226798:p.Glu176*					FRG1_ENST00000514482.1_3'UTR	p.E176*	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)	6	748	+		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)	176					A8K775	Nonsense_Mutation	SNP	ENST00000226798.4	37	c.526G>T	CCDS34121.1	.	.	.	.	.	.	.	.	.	.	.	34	5.401103	0.96030	.	.	ENSG00000109536	ENST00000226798;ENST00000524583;ENST00000531991	.	.	.	4.29	3.44	0.39384	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-3.1825	10.4286	0.44393	0.0989:0.0:0.9011:0.0	.	.	.	.	X	176;48;113	.	ENSP00000226798:E176X	E	+	1	0	FRG1	191115640	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	6.376000	0.73141	0.937000	0.37394	0.454000	0.30748	GAA		0.373	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		7	225	1	0	0.00887093	1	0.00913773	7	225				
PROKR1	10887	broad.mit.edu	37	2	68882679	68882679	+	Missense_Mutation	SNP	G	G	A	rs139618486		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:68882679G>A	ENST00000303786.3	+	3	1573	c.1153G>A	c.(1153-1155)Gaa>Aaa	p.E385K	PROKR1_ENST00000394342.2_Missense_Mutation_p.E385K			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	385					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCCTGCCACCGAAGAGGTGGA	0.488																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(1153-1155)Gaa>Aaa		prokineticin receptor 1		G	LYS/GLU	0,4406		0,0,2203	53.0	53.0	53.0		1153	4.5	1.0	2	dbSNP_134	53	1,8599	1.2+/-3.3	0,1,4299	no	missense	PROKR1	NM_138964.2	56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	385/394	68882679	1,13005	2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882679G>A	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.1153G>A	2.37:g.68882679G>A	ENSP00000303775:p.Glu385Lys					PROKR1_ENST00000394342.2_Missense_Mutation_p.E385K	p.E385K			Q8TCW9	PKR1_HUMAN			3	1573	+			385					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.1153G>A	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734748	0.69189	0.0	1.16E-4	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.72835	-0.69;-0.69	4.48	4.48	0.54585	.	0.000000	0.85682	D	0.000000	T	0.78874	0.4352	L	0.59436	1.845	0.58432	D	0.999999	D	0.89917	1.0	D	0.68765	0.96	T	0.72972	-0.4129	10	0.18276	T	0.48	.	15.4772	0.75493	0.0:0.0:1.0:0.0	.	385	Q8TCW9	PKR1_HUMAN	K	385	ENSP00000303775:E385K;ENSP00000377874:E385K	ENSP00000303775:E385K	E	+	1	0	PROKR1	68736183	1.000000	0.71417	0.963000	0.40424	0.364000	0.29643	8.626000	0.90969	2.779000	0.95612	0.655000	0.94253	GAA		0.488	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			54	126	0	0	0	1	0	54	126				
ZNF721	170960	broad.mit.edu	37	4	436628	436628	+	Missense_Mutation	SNP	A	A	T	rs200851544		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr4:436628A>T	ENST00000338977.5	-	2	1640	c.1592T>A	c.(1591-1593)aTc>aAc	p.I531N	ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.I543N			Q8TF20	ZN721_HUMAN	zinc finger protein 721	531					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(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TACATAAAGGATTGCGGACTG	0.403																																						ENST00000338977.5																			0				endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						c.(1591-1593)aTc>aAc		zinc finger protein 721							89.0	97.0	95.0					4																	436628		2112	4261	6373	SO:0001583	missense	170960							g.chr4:436628A>T	AK092362	CCDS46991.1	4p16.3	2013-01-08			ENSG00000182903	ENSG00000182903		"""Zinc fingers, C2H2-type"", ""-"""	29425	protein-coding gene	gene with protein product						11853319	Standard	NM_133474		Approved	KIAA1982	uc003gag.4	Q8TF20		ENST00000338977.5:c.1592T>A	4.37:g.436628A>T	ENSP00000340524:p.Ile531Asn					ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.I543N	p.I531N							2	1640	-								Q69YG7	Missense_Mutation	SNP	ENST00000338977.5	37	c.1592T>A		.	.	.	.	.	.	.	.	.	.	A	0.663	-0.804997	0.02819	.	.	ENSG00000182903	ENST00000338977;ENST00000511833	T;T	0.07216	3.21;3.21	1.28	-2.57	0.06248	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03178	0.0093	N	0.00335	-1.625	0.09310	N	1	D;P;P	0.57571	0.98;0.563;0.689	D;B;B	0.66979	0.948;0.192;0.352	T	0.11397	-1.0589	9	0.08179	T	0.78	.	1.5698	0.02612	0.4482:0.0:0.251:0.3008	.	531;543;543	Q8TF20;D9N162;Q8TF20-2	ZN721_HUMAN;.;.	N	531;543	ENSP00000340524:I531N;ENSP00000428878:I543N	ENSP00000340524:I531N	I	-	2	0	ZNF721	426628	0.000000	0.05858	0.000000	0.03702	0.692000	0.40212	-2.599000	0.00893	-1.109000	0.02996	0.155000	0.16302	ATC		0.403	ZNF721-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000357939.1	NM_133474		6	568	0	0	0	1	0	6	568				
SORBS2	8470	broad.mit.edu	37	4	186544317	186544317	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr4:186544317G>A	ENST00000284776.7	-	13	2763	c.2254C>T	c.(2254-2256)Ccg>Tcg	p.P752S	SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000431808.1_Missense_Mutation_p.P752S	NM_021069.4	NP_066547.1	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	752					actin filament organization (GO:0007015)|cell adhesion (GO:0007155)|cell migration (GO:0016477)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)	p.P752S(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		CTGTTGTCCGGCAAGCTCCCC	0.522																																					Esophageal Squamous(153;41 2433 9491 36028)	ENST00000431808.1																			1	Substitution - Missense(1)	p.P752S(1)	prostate(1)	endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53						c.(2254-2256)Ccg>Tcg		sorbin and SH3 domain containing 2							141.0	161.0	154.0					4																	186544317		2203	4300	6503	SO:0001583	missense	8470					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chr4:186544317G>A		CCDS3845.1, CCDS43289.2, CCDS47173.1, CCDS47174.1, CCDS47175.1, CCDS47176.1, CCDS54825.1, CCDS59482.1	4q35.1	2008-02-05			ENSG00000154556	ENSG00000154556			24098	protein-coding gene	gene with protein product	"""Arg/Abl interacting protein"""					9211900, 9872452	Standard	NM_021069		Approved	ARGBP2, KIAA0777	uc003iym.3	O94875	OTTHUMG00000157215	ENST00000284776.7:c.2254C>T	4.37:g.186544317G>A	ENSP00000284776:p.Pro752Ser					SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.P752S|SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.P656S|SORBS2_ENST00000355634.5_Missense_Mutation_p.P852S	p.P752S			O94875	SRBS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)	14	2817	-		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)	752					A6NEK9|B3KPQ7|B7Z1G5|B7Z3X6|C9JKV9|D3DP62|D3DP63|E9PAS5|E9PAW4|G3XAI0|H7BXR4|J3KNZ5|O60592|O60593|Q96EX0	Missense_Mutation	SNP	ENST00000284776.7	37	c.2254C>T	CCDS3845.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.620652	0.46736	.	.	ENSG00000154556	ENST00000284776;ENST00000431808;ENST00000418609;ENST00000355634	T;T;T;T	0.41758	1.09;1.09;0.99;1.05	5.77	5.77	0.91146	.	0.051313	0.85682	D	0.000000	T	0.58424	0.2121	L	0.39633	1.23	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.996;0.997	T	0.51865	-0.8651	10	0.38643	T	0.18	-14.2624	19.982	0.97329	0.0:0.0:1.0:0.0	.	656;852;752	B7Z3X6;B3KPQ7;O94875	.;.;SRBS2_HUMAN	S	752;752;656;852	ENSP00000284776:P752S;ENSP00000411764:P752S;ENSP00000397482:P656S;ENSP00000347852:P852S	ENSP00000284776:P752S	P	-	1	0	SORBS2	186781311	1.000000	0.71417	1.000000	0.80357	0.217000	0.24651	9.869000	0.99810	2.737000	0.93849	0.561000	0.74099	CCG		0.522	SORBS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347944.3	NM_003603		8	1016	0	0	0	1	0	8	1016				
SYBU	55638	broad.mit.edu	37	8	110588134	110588134	+	Silent	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr8:110588134C>T	ENST00000422135.1	-	8	1508	c.993G>A	c.(991-993)agG>agA	p.R331R	SYBU_ENST00000433638.1_Silent_p.R331R|SYBU_ENST00000527707.1_5'Flank|SYBU_ENST00000408908.2_Silent_p.R331R|SYBU_ENST00000533065.1_Silent_p.R212R|SYBU_ENST00000399066.3_Silent_p.R328R|SYBU_ENST00000532779.1_Silent_p.R263R|SYBU_ENST00000533895.1_Silent_p.R330R|SYBU_ENST00000446070.2_Silent_p.R330R|SYBU_ENST00000440310.1_Silent_p.R331R|SYBU_ENST00000533171.1_Silent_p.R331R|SYBU_ENST00000529690.1_Silent_p.R201R|SYBU_ENST00000528331.1_Silent_p.R212R|SYBU_ENST00000408889.3_Silent_p.R212R|SYBU_ENST00000419099.1_Silent_p.R330R|SYBU_ENST00000276646.9_Silent_p.R331R|SYBU_ENST00000424158.2_Silent_p.R336R|SYBU_ENST00000529175.1_Silent_p.R125R|SYBU_ENST00000528647.1_Silent_p.R330R	NM_001099744.1	NP_001093214.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	331	Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.			R -> G (in Ref. 3; BAG53323). {ECO:0000305}.	regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|dense body (GO:0097433)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TAATCTCTTTCCTGGCTTCTT	0.488																																						ENST00000399066.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						c.(982-984)agG>agA		syntabulin (syntaxin-interacting)							87.0	90.0	89.0					8																	110588134		1977	4205	6182	SO:0001819	synonymous_variant	55638					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane		g.chr8:110588134C>T	AB040905	CCDS43763.1, CCDS43764.1, CCDS47912.1, CCDS55271.1	8q23.2	2010-08-27				ENSG00000147642			26011	protein-coding gene	gene with protein product	"""syntaphilin-like"""	611568				17611281, 16750881, 16157705, 15656992, 15459722	Standard	NM_001099743		Approved	FLJ20366, GOLSYN, KIAA1472, OCSYN, SNPHL	uc003ynj.4	Q9NX95		ENST00000422135.1:c.993G>A	8.37:g.110588134C>T						SYBU_ENST00000528331.1_Silent_p.R212R|SYBU_ENST00000408889.3_Silent_p.R212R|SYBU_ENST00000424158.2_Silent_p.R336R|SYBU_ENST00000529175.1_Silent_p.R125R|SYBU_ENST00000529690.1_Silent_p.R201R|SYBU_ENST00000446070.2_Silent_p.R330R|SYBU_ENST00000528647.1_Silent_p.R330R|SYBU_ENST00000419099.1_Silent_p.R330R|SYBU_ENST00000440310.1_Silent_p.R331R|SYBU_ENST00000276646.9_Silent_p.R331R|SYBU_ENST00000532779.1_Silent_p.R263R|SYBU_ENST00000533065.1_Silent_p.R212R|SYBU_ENST00000422135.1_Silent_p.R331R|SYBU_ENST00000533895.1_Silent_p.R330R|SYBU_ENST00000433638.1_Silent_p.R331R|SYBU_ENST00000533171.1_Silent_p.R331R|SYBU_ENST00000408908.2_Silent_p.R331R	p.R328R	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN			6	1711	-			331			Sufficient for interaction with KIF5B.|Sufficient for interaction with STX1A.		A8K354|B3KQX3|B3KU61|Q5R1T1|Q5R1T2|Q5R1T3|Q5Y2M6|Q8ND49|Q8TCR6|Q96D80|Q9P256	Silent	SNP	ENST00000422135.1	37	c.984G>A	CCDS47912.1																																																																																				0.488	SYBU-204	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000385501.1	NM_017786		18	403	0	0	0	1	0	18	403				
KBTBD4	55709	broad.mit.edu	37	11	47599133	47599133	+	Missense_Mutation	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:47599133C>T	ENST00000526005.1	-	2	572	c.419G>A	c.(418-420)cGc>cAc	p.R140H	NDUFS3_ENST00000529276.1_5'Flank|NDUFS3_ENST00000263774.4_5'Flank|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|NDUFS3_ENST00000534208.1_5'Flank|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|KBTBD4_ENST00000450908.1_5'Flank|NDUFS3_ENST00000528192.1_5'Flank|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|RNU5E-10P_ENST00000363506.1_RNA|NDUFS3_ENST00000533507.1_Intron|NDUFS3_ENST00000534716.2_5'Flank|KBTBD4_ENST00000533290.1_Missense_Mutation_p.R165H			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	140								p.R140H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						TTGCACTGTGCGGGCCAAAAA	0.517																																						ENST00000533290.1																			2	Substitution - Missense(2)	p.R140H(2)	large_intestine(1)|lung(1)	NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						c.(493-495)cGc>cAc		kelch repeat and BTB (POZ) domain containing 4							174.0	172.0	173.0					11																	47599133		2201	4298	6499	SO:0001583	missense	55709							g.chr11:47599133C>T	AF151086	CCDS7940.1, CCDS44594.1	11p11.2	2013-01-08	2003-12-12	2003-12-17	ENSG00000123444	ENSG00000123444		"""BTB/POZ domain containing"""	23761	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 4"""	BKLHD4		11042152	Standard	NM_018095		Approved	FLJ10450, HSPC252	uc001nfz.3	Q9NVX7	OTTHUMG00000166894	ENST00000526005.1:c.419G>A	11.37:g.47599133C>T	ENSP00000433340:p.Arg140His					KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H|KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H	p.R165H			Q9NVX7	KBTB4_HUMAN			1	1208	-			140			BACK.		D3DQS1|D3DQS2|Q6IA85|Q9BUC3|Q9NV76	Missense_Mutation	SNP	ENST00000526005.1	37	c.494G>A	CCDS7940.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.836560|4.836560	0.91117|0.91117	.|.	.|.	ENSG00000123444|ENSG00000123444	ENST00000359900|ENST00000526005;ENST00000533290;ENST00000395288;ENST00000430070;ENST00000525720;ENST00000529499;ENST00000531067;ENST00000529946;ENST00000534239	.|T;T;T;T;T;T;T;T;T	.|0.73047	.|-0.64;-0.71;-0.64;-0.7;-0.57;-0.57;-0.57;-0.57;-0.57	5.4|5.4	5.4|5.4	0.78164|0.78164	.|BTB/POZ-like (1);BTB/POZ fold (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82591|0.82591	0.5070|0.5070	L|L	0.60067|0.60067	1.865|1.865	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.999;1.0;1.0	.|D;D;D	.|0.81914	.|0.991;0.995;0.995	D|D	0.83844|0.83844	0.0259|0.0259	6|10	0.02654|0.72032	T|D	1|0.01	-17.6736|-17.6736	19.1652|19.1652	0.93553|0.93553	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|156;140;165	.|Q9NVX7-2;Q9NVX7;B3KRH9	.|.;KBTB4_HUMAN;.	T|H	155|140;165;140;156;189;140;140;140;165	.|ENSP00000433340:R140H;ENSP00000436713:R165H;ENSP00000378703:R140H;ENSP00000415106:R156H;ENSP00000434477:R189H;ENSP00000433404:R140H;ENSP00000433653:R140H;ENSP00000435651:R140H;ENSP00000433124:R165H	ENSP00000352971:A155T|ENSP00000378703:R140H	A|R	-|-	1|2	0|0	KBTBD4|KBTBD4	47555709|47555709	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.487000|7.487000	0.81328|0.81328	2.520000|2.520000	0.84964|0.84964	0.462000|0.462000	0.41574|0.41574	GCA|CGC		0.517	KBTBD4-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000391763.1	NM_016506		6	697	0	0	0	1	0	6	697				
ELK1	2002	broad.mit.edu	37	X	47500789	47500789	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chrX:47500789G>A	ENST00000247161.3	-	2	151	c.52C>T	c.(52-54)Caa>Taa	p.Q18*	ELK1_ENST00000592066.1_5'UTR|ELK1_ENST00000343894.4_Nonsense_Mutation_p.Q18*|ELK1_ENST00000376983.3_Nonsense_Mutation_p.Q18*	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	18					cell differentiation (GO:0030154)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CCATTGCCTTGCTCTCTCAGC	0.597																																						ENST00000247161.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						c.(52-54)Caa>Taa		ELK1, member of ETS oncogene family							72.0	50.0	57.0					X																	47500789		2203	4300	6503	SO:0001587	stop_gained	2002				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:47500789G>A	M25269	CCDS14283.1, CCDS59165.1	Xp11.23	2010-07-20			ENSG00000126767	ENSG00000126767			3321	protein-coding gene	gene with protein product		311040				2539641	Standard	NM_001114123		Approved		uc010nhv.4	P19419	OTTHUMG00000021452	ENST00000247161.3:c.52C>T	X.37:g.47500789G>A	ENSP00000247161:p.Gln18*					ELK1_ENST00000343894.4_Nonsense_Mutation_p.Q18*|ELK1_ENST00000376983.3_Nonsense_Mutation_p.Q18*|ELK1_ENST00000592066.1_5'UTR	p.Q18*	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN			2	151	-			18					B2R7H4|O75606|O95058|Q969X8|Q9UJM4	Nonsense_Mutation	SNP	ENST00000247161.3	37	c.52C>T	CCDS14283.1	.	.	.	.	.	.	.	.	.	.	G	35	5.415103	0.96092	.	.	ENSG00000126767	ENST00000247161;ENST00000376983;ENST00000343894	.	.	.	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.323	0.66499	0.0:0.0:1.0:0.0	.	.	.	.	X	18	.	ENSP00000247161:Q18X	Q	-	1	0	ELK1	47385733	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.239000	0.72356	2.255000	0.74692	0.506000	0.49869	CAA		0.597	ELK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056436.1	NM_005229		50	37	0	0	0	1	0	50	37				
CRNN	49860	broad.mit.edu	37	1	152382749	152382749	+	Missense_Mutation	SNP	G	G	A	rs3814301		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:152382749G>A	ENST00000271835.3	-	3	871	c.809C>T	c.(808-810)aCc>aTc	p.T270I	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	270	Gln-rich.				response to heat (GO:0009408)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCGTGGGTCTCAGTCCC	0.612																																						ENST00000271835.3																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(808-810)aCc>aTc		cornulin							260.0	258.0	259.0					1																	152382749		2203	4300	6503	SO:0001583	missense	49860				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	g.chr1:152382749G>A	AF077831	CCDS1010.1	1q21	2014-01-28	2005-06-13	2005-06-13	ENSG00000143536	ENSG00000143536		"""EF-hand domain containing"""	1230	protein-coding gene	gene with protein product		611312	"""chromosome 1 open reading frame 10"""	C1orf10		11056050, 15854041	Standard	NM_016190		Approved	SEP53	uc001ezx.2	Q9UBG3	OTTHUMG00000012383	ENST00000271835.3:c.809C>T	1.37:g.152382749G>A	ENSP00000271835:p.Thr270Ile					RP1-91G5.3_ENST00000411804.1_RNA	p.T270I	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	871	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		270			Gln-rich.		B2RE60|Q8N613	Missense_Mutation	SNP	ENST00000271835.3	37	c.809C>T	CCDS1010.1	.	.	.	.	.	.	.	.	.	.	G	0.808	-0.753180	0.03041	.	.	ENSG00000143536	ENST00000271835	T	0.05081	3.5	4.62	-2.55	0.06288	.	1.825870	0.02459	N	0.086358	T	0.01092	0.0036	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46735	-0.9170	10	0.25751	T	0.34	.	6.7479	0.23472	0.4196:0.1215:0.4589:0.0	.	270	Q9UBG3	CRNN_HUMAN	I	270	ENSP00000271835:T270I	ENSP00000271835:T270I	T	-	2	0	CRNN	150649373	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	-0.781000	0.04648	-0.647000	0.05444	-2.160000	0.00327	ACC		0.612	CRNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034503.1	NM_016190		8	1353	0	0	0	1	0	8	1353				
ZNF749	388567	broad.mit.edu	37	19	57955884	57955884	+	Silent	SNP	C	C	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:57955884C>T	ENST00000334181.4	+	3	1618	c.1368C>T	c.(1366-1368)caC>caT	p.H456H	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	456					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.H369H(1)|p.H456H(1)		breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TAGTTCAGCACCAGAAAATCC	0.423																																						ENST00000334181.4																			2	Substitution - coding silent(2)	p.H369H(1)|p.H456H(1)	endometrium(2)	breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13						c.(1366-1368)caC>caT		zinc finger protein 749							93.0	89.0	91.0					19																	57955884		2203	4300	6503	SO:0001819	synonymous_variant	388567				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57955884C>T	AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.1368C>T	19.37:g.57955884C>T						AC004076.9_ENST00000596831.1_Intron	p.H456H	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)	3	1618	+		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	456						Silent	SNP	ENST00000334181.4	37	c.1368C>T	CCDS33132.2																																																																																				0.423	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317879.1	NM_001023561		7	329	0	0	0	1	0	7	329				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:25398284C>T	ENST00000256078.4	-	2	98	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000311936.3_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)	ENST00000311936.3	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119		Dom	yes		12	12p12.1	3845	Mis	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog			"""L, E, M, O"""			"""pancreatic, colorectal, lung, thyroid, AML, others"""	UBE2L3/KRAS(2)	15813	Substitution - Missense(15812)|Deletion - Frameshift(1)	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	large_intestine(9453)|pancreas(3002)|lung(1512)|ovary(500)|biliary_tract(369)|endometrium(319)|haematopoietic_and_lymphoid_tissue(163)|stomach(124)|prostate(59)|thyroid(55)|small_intestine(43)|upper_aerodigestive_tract(30)|urinary_tract(30)|soft_tissue(28)|skin(27)|cervix(22)|liver(16)|breast(11)|testis(9)|oesophagus(8)|central_nervous_system(7)|peritoneum(5)|kidney(4)|eye(4)|gastrointestinal_tract_(site_indeterminate)(3)|NS(3)|thymus(3)|autonomic_ganglia(2)|salivary_gland(1)|bone(1)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349						c.(34-36)gGt>gAt		Kirsten rat sarcoma viral oncogene homolog							91.0	81.0	85.0					12																	25398284		2203	4300	6503	SO:0001583	missense	3845	Noonan syndrome;Cardiofaciocutaneous syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	g.chr12:25398284C>T	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.35G>A	12.37:g.25398284C>T	ENSP00000256078:p.Gly12Asp	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)		2	226	-	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		12		G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).			A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	c.35G>A	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409094	0.83340	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.85919	0.5809	M	0.91818	3.245	0.80722	D	1	B;P	0.35714	0.385;0.517	B;B	0.41619	0.257;0.361	D	0.87870	0.2670	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	D	12	ENSP00000308495:G12D;ENSP00000452512:G12D;ENSP00000256078:G12D;ENSP00000451856:G12D	ENSP00000256078:G12D	G	-	2	0	KRAS	25289551	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360		44	141	0	0	0	1	0	44	141				
CFAP58	159686	broad.mit.edu	37	10	106166509	106166509	+	Silent	SNP	C	C	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:106166509C>A	ENST00000369704.3	+	15	2348	c.2214C>A	c.(2212-2214)atC>atA	p.I738I		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		738						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		AGCGTCTCATCAGCAAGACTG	0.468																																						ENST00000369704.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(2212-2214)atC>atA		coiled-coil domain containing 147							154.0	154.0	154.0					10																	106166509		2203	4300	6503	SO:0001819	synonymous_variant	159686							g.chr10:106166509C>A																												ENST00000369704.3:c.2214C>A	10.37:g.106166509C>A							p.I738I	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)	15	2348	+		Colorectal(252;0.103)|Breast(234;0.122)	738					D3DRA6|Q8NA27	Silent	SNP	ENST00000369704.3	37	c.2214C>A	CCDS31282.1																																																																																				0.468	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050216.1			6	553	1	0	0.000157383	1	0.000164592	6	553				
POU6F2	11281	broad.mit.edu	37	7	39379547	39379547	+	Missense_Mutation	SNP	C	C	T	rs144939808	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:39379547C>T	ENST00000403058.1	+	6	972	c.818C>T	c.(817-819)cCg>cTg	p.P273L	POU6F2_ENST00000518318.2_Missense_Mutation_p.P273L|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000559001.1_Missense_Mutation_p.P265L	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	273	Gln-rich.|Pro-rich.				central nervous system development (GO:0007417)|ganglion mother cell fate determination (GO:0007402)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|visual perception (GO:0007601)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						tccagccccCCGCAGAAACCT	0.627																																						ENST00000518318.2																			0				NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(817-819)cCg>cTg		POU class 6 homeobox 2		C	LEU/PRO,LEU/PRO	0,4406		0,0,2203	116.0	130.0	125.0		818,818	3.8	1.0	7	dbSNP_134	125	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	POU6F2	NM_001166018.1,NM_007252.3	98,98	0,3,6500	TT,TC,CC		0.0349,0.0,0.0231	possibly-damaging,possibly-damaging	273/656,273/692	39379547	3,13003	2203	4300	6503	SO:0001583	missense	11281				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:39379547C>T	U91934	CCDS34620.2, CCDS55103.1	7p14.1	2011-06-20	2007-07-13		ENSG00000106536	ENSG00000106536		"""Homeoboxes / POU class"""	21694	protein-coding gene	gene with protein product	"""Retina-derived POU-domain factor-1"""	609062	"""POU domain, class 6, transcription factor 2"""			8601806	Standard	NM_007252		Approved	RPF-1	uc003thb.2	P78424	OTTHUMG00000150803	ENST00000403058.1:c.818C>T	7.37:g.39379547C>T	ENSP00000384004:p.Pro273Leu					POU6F2_ENST00000403058.1_Missense_Mutation_p.P273L|POU6F2_ENST00000559001.1_Missense_Mutation_p.P265L|POU6F2_ENST00000517348.1_3'UTR	p.P273L			P78424	PO6F2_HUMAN			5	860	+			273			Gln-rich.|Pro-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	Missense_Mutation	SNP	ENST00000403058.1	37	c.818C>T	CCDS34620.2	.	.	.	.	.	.	.	.	.	.	C	15.07	2.722810	0.48728	0.0	3.49E-4	ENSG00000106536	ENST00000403058;ENST00000518318	T;D	0.85702	0.99;-2.02	4.66	3.76	0.43208	.	2586.510000	0.00166	N	0.000001	D	0.86016	0.5832	L	0.55481	1.735	0.46678	D	0.999155	P;P	0.45011	0.848;0.725	B;B	0.41619	0.361;0.074	T	0.71580	-0.4550	10	0.49607	T	0.09	.	13.9533	0.64131	0.1534:0.8466:0.0:0.0	.	273;273	P78424-2;P78424	.;PO6F2_HUMAN	L	273	ENSP00000384004:P273L;ENSP00000430514:P273L	ENSP00000384004:P273L	P	+	2	0	POU6F2	39346072	1.000000	0.71417	0.992000	0.48379	0.949000	0.60115	5.936000	0.70153	0.916000	0.36871	0.557000	0.71058	CCG		0.627	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		43	184	0	0	0	1	0	43	184				
HLA-A	3105	broad.mit.edu	37	6	29912345	29912345	+	Missense_Mutation	SNP	A	A	G	rs3180278	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:29912345A>G	ENST00000396634.1	+	7	1305	c.964A>G	c.(964-966)Atc>Gtc	p.I322V	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.I322V|HLA-A_ENST00000376806.5_Missense_Mutation_p.I322V			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	322					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGAGCTGTGATCACTGGAGC	0.587									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(964-966)Atc>Gtc		major histocompatibility complex, class I, A							112.0	106.0	108.0					6																	29912345		1511	2708	4219	SO:0001583	missense	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29912345A>G	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.964A>G	6.37:g.29912345A>G	ENSP00000379873:p.Ile322Val	Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.I322V|HLA-A_ENST00000376806.5_Missense_Mutation_p.I322V	p.I322V			P30443	1A01_HUMAN			7	1305	+			322					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Missense_Mutation	SNP	ENST00000396634.1	37	c.964A>G	CCDS34373.1	.	.	.	.	.	.	.	.	.	.	.	2.787	-0.252289	0.05829	.	.	ENSG00000206503	ENST00000396634;ENST00000376806;ENST00000376809	T;T;T	0.00638	6.04;6.04;6.04	3.09	-4.5	0.03493	.	1.170570	0.06908	N	0.807074	T	0.00073	0.0002	N	0.00387	-1.565	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.001;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.001;0.001;0.001;0.001	T	0.39292	-0.9621	10	0.87932	D	0	.	1.172	0.01827	0.2182:0.2979:0.3261:0.1578	.	201;322;322;322;322	B4DVB9;P16188;Q5SRN5;P30455;P04439	.;1A30_HUMAN;.;1A36_HUMAN;1A03_HUMAN	V	322	ENSP00000379873:I322V;ENSP00000366002:I322V;ENSP00000366005:I322V	ENSP00000366002:I322V	I	+	1	0	HLA-A	30020324	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.536000	0.06135	-1.069000	0.03153	-2.032000	0.00423	ATC		0.587	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		7	245	0	0	0	1	0	7	245				
LINC00969	440993	broad.mit.edu	37	3	195400728	195400728	+	lincRNA	SNP	A	A	G	rs12107841	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:195400728A>G	ENST00000445430.1	+	0	1324									long intergenic non-protein coding RNA 969																		GATTGTGCCCAGCCTGTACGC	0.587																																						ENST00000445430.1																			0																																																			0							g.chr3:195400728A>G	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400728A>G														0	1324	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.587	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	176	0	0	0	1	0	7	176				
GYLTL1B	120071	broad.mit.edu	37	11	45947827	45947827	+	Missense_Mutation	SNP	T	T	C	rs201277259		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:45947827T>C	ENST00000531526.1	+	8	1048	c.937T>C	c.(937-939)Tgt>Cgt	p.C313R	GYLTL1B_ENST00000389968.3_Missense_Mutation_p.C40R|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.C282R|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.C313R|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.C313R|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.C282R	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	313					muscle cell cellular homeostasis (GO:0046716)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GCGTCTGCCTTGTGTCTGGAA	0.597																																						ENST00000531526.1																			0				breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22						c.(937-939)Tgt>Cgt		glycosyltransferase-like 1B			ARG/CYS	0,4406		0,0,2203	89.0	85.0	86.0		937	5.9	1.0	11		86	1,8597	1.2+/-3.3	0,1,4298	yes	missense	GYLTL1B	NM_152312.3	180	0,1,6501	CC,CT,TT		0.0116,0.0,0.0077	probably-damaging	313/722	45947827	1,13003	2203	4299	6502	SO:0001583	missense	120071				muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr11:45947827T>C		CCDS31473.1	11p11.12	2013-02-22			ENSG00000165905	ENSG00000165905		"""Glycosyltransferase family 8 domain containing"""	16522	protein-coding gene	gene with protein product		609709				15661757, 15958417	Standard	XM_005252785		Approved	PP5656, FLJ35207, LARGE2	uc001nbv.1	Q8N3Y3	OTTHUMG00000167037	ENST00000531526.1:c.937T>C	11.37:g.45947827T>C	ENSP00000432869:p.Cys313Arg					GYLTL1B_ENST00000389968.3_Missense_Mutation_p.C40R|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.C313R|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.C313R|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.C282R|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.C282R	p.C313R	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN		GBM - Glioblastoma multiforme(35;0.226)	8	1048	+			313					A6NN75|Q8N8Y6|Q8NAK3|Q8WY62	Missense_Mutation	SNP	ENST00000531526.1	37	c.937T>C	CCDS31473.1	.	.	.	.	.	.	.	.	.	.	t	20.3	3.960946	0.74016	0.0	1.16E-4	ENSG00000165905	ENST00000529052;ENST00000531526;ENST00000401752;ENST00000389968;ENST00000325468;ENST00000536139	T;T;T;T;T;T	0.62639	2.01;2.01;2.01;0.01;2.01;2.01	5.89	5.89	0.94794	.	0.000000	0.85682	D	0.000000	D	0.82664	0.5086	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86089	0.1549	10	0.87932	D	0	-28.9074	16.3188	0.82938	0.0:0.0:0.0:1.0	.	282;313	E9PIZ2;Q8N3Y3	.;LARG2_HUMAN	R	282;313;313;40;313;282	ENSP00000431932:C282R;ENSP00000432869:C313R;ENSP00000385235:C313R;ENSP00000374618:C40R;ENSP00000324570:C313R;ENSP00000445044:C282R	ENSP00000324570:C313R	C	+	1	0	GYLTL1B	45904403	1.000000	0.71417	0.995000	0.50966	0.428000	0.31595	7.688000	0.84153	2.252000	0.74401	0.520000	0.50463	TGT		0.597	GYLTL1B-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000392572.1	NM_152312		54	286	0	0	0	1	0	54	286				
DYNC2H1	79659	broad.mit.edu	37	11	103006455	103006455	+	Silent	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:103006455A>G	ENST00000375735.2	+	17	2496	c.2352A>G	c.(2350-2352)ggA>ggG	p.G784G	DYNC2H1_ENST00000398093.3_Silent_p.G784G|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	784	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTAGACAGGGACGATTACAAT	0.318																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(2350-2352)ggA>ggG		dynein, cytoplasmic 2, heavy chain 1							33.0	31.0	32.0					11																	103006455		1784	4052	5836	SO:0001819	synonymous_variant	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103006455A>G	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.2352A>G	11.37:g.103006455A>G						DYNC2H1_ENST00000398093.3_Silent_p.G784G|DYNC2H1_ENST00000334267.7_Intron	p.G784G	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	17	2496	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	784			Stem (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	ENST00000375735.2	37	c.2352A>G	CCDS53701.1																																																																																				0.318	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		33	135	0	0	0	1	0	33	135				
LINC00264	645528	broad.mit.edu	37	10	26880266	26880266	+	lincRNA	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr10:26880266G>A	ENST00000412114.1	+	0	501					NR_026793.1				long intergenic non-protein coding RNA 264																		ACCAAGCCCAGTGGACAGATG	0.443																																						ENST00000412114.1																			0																																																			0							g.chr10:26880266G>A			10p12.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000233261	ENSG00000233261		"""Long non-coding RNAs"""	17776	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 50"", ""non-protein coding RNA 264"""	C10orf50, NCRNA00264			Standard	NR_026793		Approved	bA128B16.2	uc001ist.3		OTTHUMG00000017839		10.37:g.26880266G>A								NR_026793.1						0	501	+									RNA	SNP	ENST00000412114.1	37																																																																																						0.443	LINC00264-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000047265.1	XR_040540		7	190	0	0	0	1	0	7	190				
SNTG2	54221	broad.mit.edu	37	2	1243542	1243542	+	Silent	SNP	C	C	T	rs375891281		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:1243542C>T	ENST00000308624.5	+	11	1011	c.882C>T	c.(880-882)tcC>tcT	p.S294S	SNTG2_ENST00000407292.1_Silent_p.S167S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	294					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTCTCCTTCCGACCAGGTAG	0.473																																						ENST00000308624.5																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(880-882)tcC>tcT		syntrophin, gamma 2		C		0,4178		0,0,2089	170.0	161.0	164.0		882	-2.3	0.5	2		164	1,8449		0,1,4224	no	coding-synonymous	SNTG2	NM_018968.3		0,1,6313	TT,TC,CC		0.0118,0.0,0.0079		294/540	1243542	1,12627	2089	4225	6314	SO:0001819	synonymous_variant	54221				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	g.chr2:1243542C>T	AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.882C>T	2.37:g.1243542C>T						SNTG2_ENST00000407292.1_Silent_p.S167S	p.S294S	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)	11	1011	+	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)	294					Q05AH5	Silent	SNP	ENST00000308624.5	37	c.882C>T	CCDS46220.1																																																																																				0.473	SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968		27	43	0	0	0	1	0	27	43				
CELF1	10658	broad.mit.edu	37	11	47510453	47510453	+	Missense_Mutation	SNP	C	C	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:47510453C>G	ENST00000358597.3	-	1	113	c.114G>C	c.(112-114)caG>caC	p.Q38H	CELF1_ENST00000310513.5_Missense_Mutation_p.Q38H|CELF1_ENST00000395292.2_Missense_Mutation_p.Q38H|CELF1_ENST00000395290.2_Missense_Mutation_p.Q38H|AC090559.1_ENST00000578625.1_RNA|CELF1_ENST00000361904.3_Missense_Mutation_p.Q38H|CELF1_ENST00000532048.1_Missense_Mutation_p.Q65H|CELF1_ENST00000531165.1_Missense_Mutation_p.Q65H			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	38	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CAGCACCATACTGTTCGAAGA	0.473																																					Pancreas(163;1949 1966 9906 43218 43785)	ENST00000395290.2																			0				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						c.(112-114)caG>caC		CUGBP, Elav-like family member 1							161.0	161.0	161.0					11																	47510453		2201	4298	6499	SO:0001583	missense	10658				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding	g.chr11:47510453C>G	U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.114G>C	11.37:g.47510453C>G	ENSP00000351409:p.Gln38His					CELF1_ENST00000358597.3_Missense_Mutation_p.Q38H|CELF1_ENST00000395292.2_Missense_Mutation_p.Q38H|CELF1_ENST00000532048.1_Missense_Mutation_p.Q65H|CELF1_ENST00000531165.1_Missense_Mutation_p.Q65H|CELF1_ENST00000361904.3_Missense_Mutation_p.Q38H|CELF1_ENST00000310513.5_Missense_Mutation_p.Q38H	p.Q38H	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN			1	123	-			38			RRM 1.		B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	ENST00000358597.3	37	c.114G>C	CCDS31482.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.104279	0.76983	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048;ENST00000530151;ENST00000528434;ENST00000525841;ENST00000543178;ENST00000535982;ENST00000526419	T;T;T;T;T;T;T;T;T;T;T;T;T	0.17528	2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27;2.27	5.69	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.056069	0.64402	D	0.000001	T	0.33000	0.0848	L	0.55481	1.735	0.48452	D	0.999654	D;D;P;P;D;P	0.67145	0.996;0.988;0.679;0.679;0.988;0.725	P;P;B;B;P;B	0.59595	0.86;0.792;0.111;0.111;0.792;0.116	T	0.06285	-1.0835	10	0.72032	D	0.01	-6.7424	14.3806	0.66908	0.0:0.9293:0.0:0.0707	.	38;65;65;38;38;38	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	H	38;38;38;38;38;65;65;38;65;38;38;65;38	ENSP00000378705:Q38H;ENSP00000351409:Q38H;ENSP00000378706:Q38H;ENSP00000308386:Q38H;ENSP00000354639:Q38H;ENSP00000436864:Q65H;ENSP00000435926:Q65H;ENSP00000433986:Q38H;ENSP00000435320:Q65H;ENSP00000436191:Q38H;ENSP00000444825:Q38H;ENSP00000438044:Q65H;ENSP00000435423:Q38H	ENSP00000308386:Q38H	Q	-	3	2	CELF1	47467029	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.309000	0.43699	1.402000	0.46780	0.561000	0.74099	CAG		0.473	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398352.1	NM_006560		6	684	0	0	0	1	0	6	684				
HLA-A	3105	broad.mit.edu	37	6	29912332	29912332	+	Silent	SNP	C	C	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:29912332C>A	ENST00000396634.1	+	7	1292	c.951C>A	c.(949-951)ctC>ctA	p.L317L	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Silent_p.L317L|HLA-A_ENST00000376806.5_Silent_p.L317L			P16189	1A31_HUMAN	major histocompatibility complex, class I, A	317					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	beta-2-microglobulin binding (GO:0030881)|peptide antigen binding (GO:0042605)|TAP binding (GO:0046977)			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						GCCTGGTTCTCCTTGGAGCTG	0.587									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)																												ENST00000396634.1																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						c.(949-951)ctC>ctA		major histocompatibility complex, class I, A							108.0	102.0	104.0					6																	29912332		1509	2709	4218	SO:0001819	synonymous_variant	3105	Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;incl.: Familial Head and Neck Cancer; ;Lichen Sclerosis, Familial	antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29912332C>A	D32129	CCDS34373.1	6p21.3	2013-01-11			ENSG00000206503	ENSG00000206503		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4931	protein-coding gene	gene with protein product		142800				8838351	Standard	NM_001242758		Approved		uc003nol.3	P01891	OTTHUMG00000130501	ENST00000396634.1:c.951C>A	6.37:g.29912332C>A		Multiple Myeloma(9;0.094)				HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Silent_p.L317L|HLA-A_ENST00000376806.5_Silent_p.L317L	p.L317L			P30443	1A01_HUMAN			7	1292	+			317					O62924|O98009|O98137|Q8MHM1|Q9TPQ3|Q9TQ24|Q9UQU6|Q9UQU7	Silent	SNP	ENST00000396634.1	37	c.951C>A	CCDS34373.1																																																																																				0.587	HLA-A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252909.1	NM_002116		7	281	1	0	1.58986e-06	1	1.71505e-06	7	281				
INPP5J	27124	broad.mit.edu	37	22	31523352	31523352	+	Missense_Mutation	SNP	G	G	A	rs540212879		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr22:31523352G>A	ENST00000331075.5	+	6	1670	c.1621G>A	c.(1621-1623)Ggt>Agt	p.G541S	INPP5J_ENST00000405300.1_Missense_Mutation_p.G174S|INPP5J_ENST00000402238.1_5'Flank|INPP5J_ENST00000400294.2_Missense_Mutation_p.G174S|INPP5J_ENST00000401755.1_5'Flank|INPP5J_ENST00000412277.2_Missense_Mutation_p.G474S|INPP5J_ENST00000404390.3_Missense_Mutation_p.G173S|INPP5J_ENST00000404453.1_5'Flank	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	541	Catalytic. {ECO:0000255}.				inositol phosphate metabolic process (GO:0043647)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of neuron projection development (GO:0010977)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:0034485)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GGGTAACAAGGGTGGCGTGAG	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		14837	0.0		0.0	False		,,,				2504	0.001					ENST00000331075.5																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						c.(1621-1623)Ggt>Agt		inositol polyphosphate-5-phosphatase J							33.0	35.0	34.0					22																	31523352		2139	4241	6380	SO:0001583	missense	27124					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding	g.chr22:31523352G>A	U45975	CCDS46687.1, CCDS63453.1, CCDS63454.1, CCDS63455.1, CCDS74847.1	22q12.2	2008-09-09	2008-09-09	2008-09-09	ENSG00000185133	ENSG00000185133			8956	protein-coding gene	gene with protein product		606481	"""phosphatidylinositol (4,5) bisphosphate 5-phosphatase, A"""	PIB5PA		10591208	Standard	NM_001284287		Approved	INPP5	uc003aju.4	Q15735	OTTHUMG00000151206	ENST00000331075.5:c.1621G>A	22.37:g.31523352G>A	ENSP00000333262:p.Gly541Ser					INPP5J_ENST00000412277.2_Missense_Mutation_p.G474S|INPP5J_ENST00000405300.1_Missense_Mutation_p.G174S|INPP5J_ENST00000404390.3_Missense_Mutation_p.G173S|INPP5J_ENST00000400294.2_Missense_Mutation_p.G174S	p.G541S			Q15735	PI5PA_HUMAN			6	1670	+			541			Catalytic (Potential).		B3KS54|Q32M61|Q6ZTH6|Q8N902|Q9UDT9	Missense_Mutation	SNP	ENST00000331075.5	37	c.1621G>A		.	.	.	.	.	.	.	.	.	.	G	35	5.565391	0.96527	.	.	ENSG00000185133	ENST00000331075;ENST00000412277;ENST00000400294;ENST00000405300;ENST00000404390	D;D;D;D;D	0.96913	-4.17;-4.17;-4.17;-4.17;-4.17	4.37	4.37	0.52481	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98713	0.9568	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99744	1.1016	10	0.87932	D	0	.	17.8398	0.88712	0.0:0.0:1.0:0.0	.	541;173	Q15735;Q15735-3	PI5PA_HUMAN;.	S	541;474;174;174;173	ENSP00000333262:G541S;ENSP00000392924:G474S;ENSP00000383150:G174S;ENSP00000384596:G174S;ENSP00000384534:G173S	ENSP00000333262:G541S	G	+	1	0	INPP5J	29853352	1.000000	0.71417	0.997000	0.53966	0.977000	0.68977	9.453000	0.97619	2.363000	0.80096	0.655000	0.94253	GGT		0.637	INPP5J-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000321784.1	NM_001002837		17	72	0	0	0	1	0	17	72				
DNM1P47	100216544	broad.mit.edu	37	15	102294648	102294648	+	RNA	SNP	T	T	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr15:102294648T>C	ENST00000561463.1	+	0	2694									DNM1 pseudogene 47																		TTCTCAGAGCTGCTGTCCAAC	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102294648T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102294648T>C														0	2694	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		4	162	0	0	0	1	0	4	162				
RP11-156P1.3	0	broad.mit.edu	37	17	45128671	45128671	+	RNA	SNP	T	T	G	rs1056072		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:45128671T>G	ENST00000575173.1	-	0	418				LRRC37A17P_ENST00000570478.1_RNA																							GCTCACAAAATAAGTTCCAGG	0.323																																						ENST00000575173.1																			0																																																			0							g.chr17:45128671T>G																													17.37:g.45128671T>G														0	418	-									RNA	SNP	ENST00000575173.1	37																																																																																						0.323	RP11-156P1.3-009	KNOWN	basic	lincRNA	processed_transcript	OTTHUMT00000440924.1			5	495	0	0	0	1	0	5	495				
CYP2R1	120227	broad.mit.edu	37	11	14901766	14901766	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:14901766C>A	ENST00000334636.5	-	3	962	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	CYP2R1_ENST00000532378.1_Nonsense_Mutation_p.E73*|CYP2R1_ENST00000526489.1_5'UTR	NM_024514.4	NP_078790.2	Q6VVX0	CP2R1_HUMAN	cytochrome P450, family 2, subfamily R, polypeptide 1	306					small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14					Cholecalciferol(DB00169)|Ergocalciferol(DB00153)	ATGATGAGTTCACCCACTGAG	0.393																																					NSCLC(173;1584 2058 26117 29365 41534)	ENST00000532378.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						c.(217-219)Gaa>Taa		cytochrome P450, family 2, subfamily R, polypeptide 1	Cholecalciferol(DB00169)|Ergocalciferol(DB00153)						68.0	65.0	66.0					11																	14901766		2200	4293	6493	SO:0001587	stop_gained	120227				hormone biosynthetic process|vitamin D metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding|vitamin D3 25-hydroxylase activity	g.chr11:14901766C>A	AY323817	CCDS7818.1	11p15.2	2008-02-05			ENSG00000186104	ENSG00000186104		"""Cytochrome P450s"""	20580	protein-coding gene	gene with protein product		608713				12464240, 12867411	Standard	XM_005252788		Approved		uc001mlr.3	Q6VVX0	OTTHUMG00000165900	ENST00000334636.5:c.916G>T	11.37:g.14901766C>A	ENSP00000334592:p.Glu306*					CYP2R1_ENST00000526489.1_5'UTR|CYP2R1_ENST00000334636.5_Nonsense_Mutation_p.E306*	p.E73*			Q6VVX0	CP2R1_HUMAN			4	1071	-			306					Q2M3H3|Q5RT65	Nonsense_Mutation	SNP	ENST00000334636.5	37	c.217G>T	CCDS7818.1	.	.	.	.	.	.	.	.	.	.	C	43	10.097504	0.99336	.	.	ENSG00000186104	ENST00000532378;ENST00000334636	.	.	.	6.17	6.17	0.99709	.	0.042761	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	73;306	.	ENSP00000334592:E306X	E	-	1	0	CYP2R1	14858342	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAA		0.393	CYP2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386985.1	NM_024514		11	233	1	0	1.61879e-10	1	1.7885e-10	11	233				
SRCIN1	80725	broad.mit.edu	37	17	36709027	36709027	+	Missense_Mutation	SNP	C	C	T	rs376938284	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:36709027C>T	ENST00000264659.7	-	12	2490	c.2266G>A	c.(2266-2268)Ggc>Agc	p.G756S	SRCIN1_ENST00000398579.4_5'UTR|SRCIN1_ENST00000578925.1_Missense_Mutation_p.G790S	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	628					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						AGCTCAGGGCCGGGCACCAGC	0.612													C|||	5	0.000998403	0.0	0.0	5008	,	,		16579	0.0		0.0	False		,,,				2504	0.0051					ENST00000264659.7																			0				endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						c.(2266-2268)Ggc>Agc		SRC kinase signaling inhibitor 1		C	SER/GLY	0,4178		0,0,2089	54.0	64.0	61.0		2266	4.8	1.0	17		61	2,8470		0,2,4234	no	missense	SRCIN1	NM_025248.2	56	0,2,6323	TT,TC,CC		0.0236,0.0,0.0158	benign	756/1184	36709027	2,12648	2089	4236	6325	SO:0001583	missense	80725				exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding	g.chr17:36709027C>T		CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.2266G>A	17.37:g.36709027C>T	ENSP00000264659:p.Gly756Ser					SRCIN1_ENST00000578925.1_Missense_Mutation_p.G790S|SRCIN1_ENST00000398579.4_5'UTR	p.G756S	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN			12	2490	-			628					Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	c.2266G>A	CCDS45660.1	.	.	.	.	.	.	.	.	.	.	C	15.76	2.929532	0.52759	0.0	2.36E-4	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.50548	0.74	4.85	4.85	0.62838	.	0.112392	0.64402	D	0.000014	T	0.39462	0.1079	L	0.36672	1.1	0.46416	D	0.999031	P;P;P;P	0.45428	0.858;0.625;0.625;0.625	B;B;B;B	0.38020	0.263;0.128;0.128;0.128	T	0.43861	-0.9365	10	0.56958	D	0.05	-30.4219	17.2494	0.87038	0.0:1.0:0.0:0.0	.	62;628;628;756	Q9C0H9-4;Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;.;SRCN1_HUMAN;.	S	756;537;610	ENSP00000264659:G756S	ENSP00000264659:G756S	G	-	1	0	SRCIN1	33962553	0.651000	0.27340	0.957000	0.39632	0.297000	0.27493	5.445000	0.66594	2.678000	0.91216	0.555000	0.69702	GGC		0.612	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		84	262	0	0	0	1	0	84	262				
SLC4A3	6508	broad.mit.edu	37	2	220494825	220494825	+	Intron	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:220494825A>G	ENST00000358055.3	+	6	1123				SLC4A3_ENST00000497589.1_Intron|SLC4A3_ENST00000273063.6_Missense_Mutation_p.T215A|SLC4A3_ENST00000317151.3_Intron|SLC4A3_ENST00000373760.2_Intron|SLC4A3_ENST00000373762.3_Missense_Mutation_p.T215A			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3						bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|regulation of intracellular pH (GO:0051453)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGGTGATGGAACCACCGACCT	0.682																																						ENST00000373762.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51						c.(643-645)Acc>Gcc		solute carrier family 4 (anion exchanger), member 3							40.0	35.0	37.0					2																	220494825		2203	4300	6503	SO:0001627	intron_variant	6508				bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	g.chr2:220494825A>G		CCDS2445.1, CCDS2446.1	2q35	2013-07-19	2013-07-19		ENSG00000114923	ENSG00000114923		"""Solute carriers"""	11029	protein-coding gene	gene with protein product	"""Anion exchanger 3, neuronal"""	106195	"""solute carrier family 4, anion exchanger, member 3"""			8001971	Standard	NM_005070		Approved	AE3, SLC2C	uc002vmo.4	P48751	OTTHUMG00000059238	ENST00000358055.3:c.612-50A>G	2.37:g.220494825A>G						SLC4A3_ENST00000497589.1_Intron|SLC4A3_ENST00000317151.3_Intron|SLC4A3_ENST00000358055.3_Intron|SLC4A3_ENST00000273063.6_Missense_Mutation_p.T215A|SLC4A3_ENST00000373760.2_Intron	p.T215A	NM_005070.3	NP_005061.2	P48751	B3A3_HUMAN		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	6	912	+		Renal(207;0.0183)	203					A6H8L2|A8K1Q9|B7ZVX6|B9EGD1|Q6YIQ9	Missense_Mutation	SNP	ENST00000358055.3	37	c.643A>G	CCDS2445.1	.	.	.	.	.	.	.	.	.	.	A	5.787	0.329471	0.10956	.	.	ENSG00000114923	ENST00000273063;ENST00000373762	T;T	0.28454	1.61;1.61	3.91	-3.45	0.04781	.	.	.	.	.	T	0.11495	0.0280	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36456	-0.9747	8	0.09084	T	0.74	.	5.644	0.17579	0.4025:0.1553:0.4421:0.0	.	215	P48751-3	.	A	215	ENSP00000273063:T215A;ENSP00000362867:T215A	ENSP00000273063:T215A	T	+	1	0	SLC4A3	220203069	0.000000	0.05858	0.001000	0.08648	0.278000	0.26855	-0.477000	0.06583	-0.631000	0.05560	0.379000	0.24179	ACC		0.682	SLC4A3-009	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316472.1	NM_005070		19	146	0	0	0	1	0	19	146				
TCHH	7062	broad.mit.edu	37	1	152082606	152082606	+	Silent	SNP	T	T	C	rs201965717		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:152082606T>C	ENST00000368804.1	-	2	3086	c.3087A>G	c.(3085-3087)gaA>gaG	p.E1029E		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1029	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGCTCTTCTTCCTGCTGCA	0.582																																						ENST00000368804.1																			0				NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105						c.(3085-3087)gaA>gaG		trichohyalin							111.0	113.0	112.0					1																	152082606		1978	4144	6122	SO:0001819	synonymous_variant	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082606T>C	L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.3087A>G	1.37:g.152082606T>C							p.E1029E	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3086	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1029			10 X 30 AA tandem repeats.		Q5VUI3	Silent	SNP	ENST00000368804.1	37	c.3087A>G	CCDS41396.1																																																																																				0.582	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		8	944	0	0	0	1	0	8	944				
BMP7	655	broad.mit.edu	37	20	55758862	55758862	+	Missense_Mutation	SNP	G	G	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr20:55758862G>A	ENST00000395863.3	-	4	1379	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	BMP7_ENST00000395864.3_Intron|BMP7_ENST00000450594.2_Missense_Mutation_p.R292W|BMP7_ENST00000460817.1_5'UTR	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	bone morphogenetic protein 7	292					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of an epithelial tube (GO:0048754)|cartilage development (GO:0051216)|cellular response to hypoxia (GO:0071456)|dendrite development (GO:0016358)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic skeletal joint morphogenesis (GO:0060272)|epithelial cell differentiation (GO:0030855)|epithelial to mesenchymal transition (GO:0001837)|extracellular matrix organization (GO:0030198)|growth (GO:0040007)|mesenchymal cell differentiation (GO:0048762)|mesenchyme development (GO:0060485)|mesoderm formation (GO:0001707)|mesonephros development (GO:0001823)|metanephric mesenchymal cell proliferation involved in metanephros development (GO:0072136)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephros development (GO:0001656)|monocyte aggregation (GO:0070487)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell death (GO:0060548)|negative regulation of glomerular mesangial cell proliferation (GO:0072125)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mesenchymal cell apoptotic process involved in nephron morphogenesis (GO:0072040)|negative regulation of mitosis (GO:0045839)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostatic bud formation (GO:0060686)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neuron projection morphogenesis (GO:0048812)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone mineralization (GO:0030501)|positive regulation of dendrite development (GO:1900006)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of hyaluranon cable assembly (GO:1900106)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of pathway-restricted SMAD protein phosphorylation (GO:0060393)|regulation of removal of superoxide radicals (GO:2000121)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|steroid hormone mediated signaling pathway (GO:0043401)|ureteric bud development (GO:0001657)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	heparin binding (GO:0008201)			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			CCCGTGGACCGGATGCTGCGG	0.637																																						ENST00000395863.3																			0				endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20						c.(874-876)Cgg>Tgg		bone morphogenetic protein 7							75.0	66.0	69.0					20																	55758862		2203	4300	6503	SO:0001583	missense	655				BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity	g.chr20:55758862G>A		CCDS13455.1	20q13	2014-01-30	2008-05-22		ENSG00000101144	ENSG00000101144		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1074	protein-coding gene	gene with protein product	"""osteogenic protein 1"""	112267				1427904	Standard	NM_001719		Approved	OP-1	uc010gip.1	P18075	OTTHUMG00000032812	ENST00000395863.3:c.874C>T	20.37:g.55758862G>A	ENSP00000379204:p.Arg292Trp					BMP7_ENST00000395864.3_Intron|BMP7_ENST00000460817.1_5'UTR|BMP7_ENST00000450594.2_Missense_Mutation_p.R292W	p.R292W	NM_001719.2	NP_001710.1	P18075	BMP7_HUMAN	BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)		4	1379	-	all_lung(29;0.0133)|Melanoma(10;0.242)		292					Q9H512|Q9NTQ7	Missense_Mutation	SNP	ENST00000395863.3	37	c.874C>T	CCDS13455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.8|28.8	4.954563|4.954563	0.92726|0.92726	.|.	.|.	ENSG00000101144|ENSG00000101144	ENST00000433911|ENST00000395863;ENST00000450594	.|T;D	.|0.83075	.|-1.19;-1.68	5.48|5.48	4.52|4.52	0.55395|0.55395	.|.	.|0.049998	.|0.85682	.|D	.|0.000000	D|D	0.89083|0.89083	0.6614|0.6614	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|0.985;1.0	D|D	0.90219|0.90219	0.4270|0.4270	5|10	.|0.87932	.|D	.|0	.|.	16.2622|16.2622	0.82552|0.82552	0.0:0.1329:0.8671:0.0|0.0:0.1329:0.8671:0.0	.|.	.|292;292	.|P18075;B1AL00	.|BMP7_HUMAN;.	L|W	213|292	.|ENSP00000379204:R292W;ENSP00000398687:R292W	.|ENSP00000379204:R292W	P|R	-|-	2|1	0|2	BMP7|BMP7	55192269|55192269	1.000000|1.000000	0.71417|0.71417	0.770000|0.770000	0.31555|0.31555	0.984000|0.984000	0.73092|0.73092	9.580000|9.580000	0.98207|0.98207	1.271000|1.271000	0.44313|0.44313	0.643000|0.643000	0.83706|0.83706	CCG|CGG		0.637	BMP7-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079831.2			106	283	0	0	0	1	0	106	283				
HRNR	388697	broad.mit.edu	37	1	152191773	152191773	+	Missense_Mutation	SNP	G	G	C	rs372266640		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:152191773G>C	ENST00000368801.2	-	3	2407	c.2332C>G	c.(2332-2334)Cgt>Ggt	p.R778G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	778					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCGGACACGGCTAGGAGAG	0.592																																						ENST00000368801.2																			0				autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192						c.(2332-2334)Cgt>Ggt		hornerin							75.0	78.0	77.0					1																	152191773		2203	4300	6503	SO:0001583	missense	388697				keratinization		calcium ion binding|protein binding	g.chr1:152191773G>C	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.2332C>G	1.37:g.152191773G>C	ENSP00000357791:p.Arg778Gly					FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.R778G	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2407	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		778					Q5DT20|Q5U1F4	Missense_Mutation	SNP	ENST00000368801.2	37	c.2332C>G	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	5.505	0.278141	0.10403	.	.	ENSG00000197915	ENST00000368801	T	0.03801	3.8	3.06	0.0247	0.14143	.	.	.	.	.	T	0.00754	0.0025	N	0.19112	0.55	0.09310	N	1	B	0.27013	0.166	B	0.17722	0.019	T	0.47182	-0.9137	9	0.14252	T	0.57	.	5.1534	0.15021	0.627:0.0:0.373:0.0	.	778	Q86YZ3	HORN_HUMAN	G	778	ENSP00000357791:R778G	ENSP00000357791:R778G	R	-	1	0	HRNR	150458397	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.096000	0.03353	-0.095000	0.12351	0.508000	0.49915	CGT		0.592	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		7	423	0	0	0	1	0	7	423				
NCAPD3	23310	broad.mit.edu	37	11	134031774	134031774	+	Missense_Mutation	SNP	T	T	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr11:134031774T>C	ENST00000534548.2	-	28	3650	c.3586A>G	c.(3586-3588)Aat>Gat	p.N1196D		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1196					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCTATGAAATTCCTCTTCTGA	0.403																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(3586-3588)Aat>Gat		non-SMC condensin II complex, subunit D3							51.0	47.0	49.0					11																	134031774		2201	4296	6497	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134031774T>C	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.3586A>G	11.37:g.134031774T>C	ENSP00000433681:p.Asn1196Asp						p.N1196D	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	28	3650	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	1196					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.3586A>G	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196500	0.79015	.	.	ENSG00000151503	ENST00000534548;ENST00000527944;ENST00000530396	T;T;T	0.63417	-0.04;-0.04;-0.04	5.7	5.7	0.88788	Armadillo-type fold (1);	0.136711	0.64402	D	0.000004	T	0.78761	0.4334	M	0.81112	2.525	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73708	0.981;0.974	T	0.81611	-0.0854	10	0.72032	D	0.01	-34.3963	12.4826	0.55852	0.0:0.0:0.1394:0.8606	.	1196;256	P42695;Q96FA6	CNDD3_HUMAN;.	D	1196;101;232	ENSP00000433681:N1196D;ENSP00000432532:N101D;ENSP00000435173:N232D	ENSP00000432532:N101D	N	-	1	0	NCAPD3	133536984	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.796000	0.55507	2.170000	0.68504	0.533000	0.62120	AAT		0.403	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		30	100	0	0	0	1	0	30	100				
ANK1	286	broad.mit.edu	37	8	41563703	41563703	+	Silent	SNP	A	A	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr8:41563703A>G	ENST00000347528.4	-	18	2138	c.2055T>C	c.(2053-2055)gaT>gaC	p.D685D	ANK1_ENST00000396945.1_Silent_p.D685D|ANK1_ENST00000352337.4_Silent_p.D685D|ANK1_ENST00000265709.8_Silent_p.D718D|ANK1_ENST00000379758.2_Silent_p.D685D|ANK1_ENST00000289734.7_Silent_p.D685D|ANK1_ENST00000396942.1_Silent_p.D685D	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	685	89 kDa domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGATCAGCACATCTGCCACTG	0.522																																						ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(2053-2055)gaT>gaC		ankyrin 1, erythrocytic							80.0	68.0	72.0					8																	41563703		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41563703A>G	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.2055T>C	8.37:g.41563703A>G						ANK1_ENST00000352337.4_Silent_p.D685D|ANK1_ENST00000289734.7_Silent_p.D685D|ANK1_ENST00000265709.8_Silent_p.D718D|ANK1_ENST00000396945.1_Silent_p.D685D|ANK1_ENST00000379758.2_Silent_p.D685D|ANK1_ENST00000347528.4_Silent_p.D685D	p.D685D			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		18	2138	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	685			89 kDa domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.2055T>C	CCDS6119.1																																																																																				0.522	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		64	187	0	0	0	1	0	64	187				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:43587569G>C	ENST00000579913.1	-	0	1444				RP11-798G7.5_ENST00000253803.2_RNA	NR_002940.2				leucine rich repeat containing 37, member A4, pseudogene																		aactccgtctgaaaagaaaag	0.443																																						ENST00000253803.2																			0																																																			0							g.chr17:43587569G>C	AK000982		17q21.31	2014-04-01	2012-03-07	2012-03-07	ENSG00000214425	ENSG00000214425			25479	pseudogene	pseudogene			"""leucine rich repeat containing 37, member A4 (pseudogene)"""	LRRC37A4			Standard	NR_002940		Approved	FLJ10120	uc031rhd.1		OTTHUMG00000179212		17.37:g.43587569G>C						LRRC37A4P_ENST00000579913.1_RNA								0	267	+									RNA	SNP	ENST00000579913.1	37																																																																																						0.443	LRRC37A4P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445300.1	NR_002940		6	231	0	0	0	1	0	6	231				
MFN2	9927	broad.mit.edu	37	1	12052736	12052736	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:12052736delT	ENST00000235329.5	+	4	622	c.300delT	c.(298-300)gctfs	p.A100fs	MFN2_ENST00000444836.1_Frame_Shift_Del_p.A100fs	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	100	Dynamin-type G.				apoptotic process (GO:0006915)|autophagy (GO:0006914)|blastocyst formation (GO:0001825)|blood coagulation (GO:0007596)|camera-type eye morphogenesis (GO:0048593)|mitochondrial fusion (GO:0008053)|mitochondrial membrane organization (GO:0007006)|mitochondrion localization (GO:0051646)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of smooth muscle cell proliferation (GO:0048662)|protein localization to pre-autophagosomal structure (GO:0034497)|protein targeting to mitochondrion (GO:0006626)|response to unfolded protein (GO:0006986)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intrinsic component of mitochondrial outer membrane (GO:0031306)|microtubule cytoskeleton (GO:0015630)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGAAAGTGGCTTTTTTTGGCC	0.537																																						ENST00000235329.5																			0				endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20						c.(298-300)gcfs		mitofusin 2							210.0	190.0	196.0					1																	12052736		2203	4300	6503	SO:0001589	frameshift_variant	9927				blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr1:12052736delT	AF036536	CCDS30587.1	1p36.22	2014-09-17			ENSG00000116688	ENSG00000116688			16877	protein-coding gene	gene with protein product		608507				12499352, 11181170	Standard	NM_014874		Approved	CPRP1, KIAA0214, MARF, CMT2A2	uc009vni.3	O95140	OTTHUMG00000002392	ENST00000235329.5:c.300delT	1.37:g.12052736delT	ENSP00000235329:p.Ala100fs					MFN2_ENST00000444836.1_Frame_Shift_Del_p.A100fs	p.A100fs	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)	4	622	+	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	100					A8K1B3|O95572|Q5JXC3|Q5JXC4|Q9H131|Q9NSX8	Frame_Shift_Del	DEL	ENST00000235329.5	37	c.300delT	CCDS30587.1																																																																																				0.537	MFN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006859.2	NM_014874		10	721						10	721	---	---	---	---
ZBTB40	9923	broad.mit.edu	37	1	22838561	22838563	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:22838561_22838563delAAG	ENST00000375647.4	+	11	2602_2604	c.2395_2397delAAG	c.(2395-2397)aagdel	p.K803del	ZBTB40_ENST00000404138.1_In_Frame_Del_p.K803del|ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	803					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|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(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CGATGCCCCCAAGAAGAAGAAGA	0.517																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(2395-2397)del		zinc finger and BTB domain containing 40																																				SO:0001651	inframe_deletion	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22838561_22838563delAAG	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.2395_2397delAAG	1.37:g.22838570_22838572delAAG	ENSP00000364798:p.Lys803del					ZBTB40_ENST00000374651.4_In_Frame_Del_p.K691del|ZBTB40_ENST00000375647.4_In_Frame_Del_p.K803del	p.K803del	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	12	2906_2908	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	803					O75066|Q5TFU5|Q8N1R1	In_Frame_Del	DEL	ENST00000375647.4	37	c.2395_2397delAAG	CCDS224.1																																																																																				0.517	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		7	206						7	206	---	---	---	---
ADAM30	11085	broad.mit.edu	37	1	120436591	120436591	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:120436591delT	ENST00000369400.1	-	1	2527	c.2369delA	c.(2368-2370)aagfs	p.K790fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	790					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		GCCCGGTTACTTTTTTTGTTT	0.358																																						ENST00000369400.1																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38						c.(2368-2370)agfs		ADAM metallopeptidase domain 30							256.0	265.0	262.0					1																	120436591		2203	4300	6503	SO:0001589	frameshift_variant	11085				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr1:120436591delT	AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.2369delA	1.37:g.120436591delT	ENSP00000358407:p.Lys790fs						p.K790fs	NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)	1	2527	-	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)	790					A8K8W8|Q5T3X6|Q9UKF1	Frame_Shift_Del	DEL	ENST00000369400.1	37	c.2369delA	CCDS907.1																																																																																				0.358	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033678.1	NM_021794		7	1186						7	1186	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161044104	161044106	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:161044104_161044106delCCA	ENST00000368012.3	-	6	1360_1362	c.1058_1060delTGG	c.(1057-1062)gtgggt>ggt	p.V353del	PVRL4_ENST00000486694.1_5'Flank|PVRL4_ENST00000453926.2_In_Frame_Del_p.V87del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	353					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|viral process (GO:0016032)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCGATCACACCCACCACCACCAC	0.606																																					NSCLC(76;1160 1387 14476 16172 29359)	ENST00000368012.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20						c.(1057-1062)ggt>g		poliovirus receptor-related 4																																				SO:0001651	inframe_deletion	81607				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane		g.chr1:161044104_161044106delCCA	AF426163	CCDS1216.1	1q22-q23.2	2013-01-14			ENSG00000143217	ENSG00000143217		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	19688	protein-coding gene	gene with protein product		609607				11544254	Standard	NM_030916		Approved	nectin-4, PRR4, LNIR	uc001fxo.2	Q96NY8	OTTHUMG00000031475	ENST00000368012.3:c.1058_1060delTGG	1.37:g.161044113_161044115delCCA	ENSP00000356991:p.Val353del					PVRL4_ENST00000453926.2_In_Frame_Del_p.VG87del	p.VG353del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	1360_1362	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		353					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.1058_1060delTGG	CCDS1216.1																																																																																				0.606	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		7	904						7	904	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167064080	167064088	+	Start_Codon_Del	DEL	GGTTGTCAT	GGTTGTCAT	-	rs201615244|rs200330749		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:167064080_167064088delGGTTGTCAT	ENST00000361200.2	+	0	160_168				DUSP27_ENST00000271385.5_Start_Codon_Del|DUSP27_ENST00000443333.1_Start_Codon_Del			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)						protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAGGTTGGCAGGTTGTCATGGCGACCAGA	0.555																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89								dual specificity phosphatase 27 (putative)																																				SO:0001582	initiator_codon_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167064080_167064088delGGTTGTCAT	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434		1.37:g.167064080_167064088delGGTTGTCAT						DUSP27_ENST00000443333.1_Start_Codon_Del|DUSP27_ENST00000271385.5_Start_Codon_Del				Q5VZP5	DUS27_HUMAN			0	160_168	+								A0AUM4|Q9C074	Translation_Start_Site	DEL	ENST00000361200.2	37		CCDS30932.1																																																																																				0.555	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		14	68						14	68	---	---	---	---
SCYL3	57147	broad.mit.edu	37	1	169833511	169833511	+	Splice_Site	DEL	T	T	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:169833511delT	ENST00000367770.1	-	8	1001	c.954delA	c.(952-954)aaa>aa	p.K318fs	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367771.6_Splice_Site_p.K318fs|SCYL3_ENST00000367772.4_Splice_Site_p.K318fs			Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)	318					cell migration (GO:0016477)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)	ATP binding (GO:0005524)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393																																						ENST00000367772.4																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.e9+1		SCY1-like 3 (S. cerevisiae)							92.0	94.0	94.0					1																	169833511		2203	4300	6503	SO:0001630	splice_region_variant	57147				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity	g.chr1:169833511delT	BC014662	CCDS1286.1, CCDS1287.1	1q24.2	2008-02-05			ENSG00000000457	ENSG00000000457			19285	protein-coding gene	gene with protein product	"""ezrin-binding partner PACE-1"""	608192				12651155	Standard	NM_020423		Approved	PACE-1, PACE1	uc001ggs.3	Q8IZE3	OTTHUMG00000035941	ENST00000367770.1:c.955+1A>-	1.37:g.169833511delT						SCYL3_ENST00000367770.1_Splice_Site_p.K318_splice|SCYL3_ENST00000367771.5_Splice_Site_p.K318_splice|SCYL3_ENST00000470238.1_5'UTR	p.K318_splice	NM_181093.3	NP_851607.2	Q8IZE3	PACE1_HUMAN			9	1151	-	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		318					A8K8Z2|Q5THA6|Q5THA8|Q8IZN9|Q96C56|Q9UBK6	Splice_Site	DEL	ENST00000367770.1	37	c.955_splice	CCDS1287.1																																																																																				0.393	SCYL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087550.4	NM_181093	Frame_Shift_Del	9	973						9	973	---	---	---	---
PTPN14	5784	broad.mit.edu	37	1	214557049	214557051	+	In_Frame_Del	DEL	CCT	CCT	-	rs143136196|rs376331360|rs189081489|rs539310988	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:214557049_214557051delCCT	ENST00000366956.5	-	13	2341_2343	c.2147_2149delAGG	c.(2146-2151)gaggct>gct	p.E716del	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	716	Poly-Glu.				lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)	p.E716delE(1)		NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		GATTCTGGAGCCTCCTCCTCCTC	0.626																																					Colon(92;557 1424 24372 34121 40073)	ENST00000366956.5																			1	Deletion - In frame(1)	p.E716delE(1)	liver(1)	NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						c.(2146-2151)gct>g		protein tyrosine phosphatase, non-receptor type 14																																				SO:0001651	inframe_deletion	5784				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding	g.chr1:214557049_214557051delCCT	X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.2147_2149delAGG	1.37:g.214557058_214557060delCCT	ENSP00000355923:p.Glu716del					PTPN14_ENST00000543945.1_3'UTR	p.EA716del	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)	13	2341_2343	-			716			Poly-Glu.		Q5VSI0	In_Frame_Del	DEL	ENST00000366956.5	37	c.2147_2149delAGG	CCDS1514.1																																																																																				0.626	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089918.2	NM_005401		7	221						7	221	---	---	---	---
EPHX1	2052	broad.mit.edu	37	1	226026383	226026384	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr1:226026383_226026384insC	ENST00000366837.4	+	4	589_590	c.393_394insC	c.(394-396)cccfs	p.P132fs	RP11-285F7.2_ENST00000424332.1_RNA|EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.P132fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	132					aromatic compound catabolic process (GO:0019439)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cis-stilbene-oxide hydrolase activity (GO:0033961)|epoxide hydrolase activity (GO:0004301)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					TCCACGTGAAGCCCCCCCAGCT	0.624																																						ENST00000366837.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28						c.(391-396)aaccccfs		epoxide hydrolase 1, microsomal (xenobiotic)																																				SO:0001589	frameshift_variant	2052				aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	g.chr1:226026383_226026384insC	J03518	CCDS1547.1	1q42.1	2009-07-10			ENSG00000143819	ENSG00000143819	3.3.2.9		3401	protein-coding gene	gene with protein product		132810		EPHX		9925921	Standard	NM_000120		Approved		uc001hpk.3	P07099	OTTHUMG00000037743	ENST00000366837.4:c.400dupC	1.37:g.226026390_226026390dupC	ENSP00000355802:p.Pro132fs					EPHX1_ENST00000272167.5_Frame_Shift_Ins_p.NP131fs	p.NP131fs	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN			4	589_590	+	Breast(184;0.197)		131					B2R8N0|Q5VTJ6|Q9NP75|Q9NPE7|Q9NQU6|Q9NQU7|Q9NQU8|Q9NQU9|Q9NQV0|Q9NQV1|Q9NQV2	Frame_Shift_Ins	INS	ENST00000366837.4	37	c.393_394insC	CCDS1547.1																																																																																				0.624	EPHX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092064.1	NM_000120		7	925						7	925	---	---	---	---
C2orf71	388939	broad.mit.edu	37	2	29295647	29295649	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:29295647_29295649delTCC	ENST00000331664.5	-	1	1478_1480	c.1479_1481delGGA	c.(1477-1482)gaggaa>gaa	p.493_494EE>E		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	493					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CATTTTGTCTTCCTCCTCCTCCT	0.542																																						ENST00000331664.5																			0				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						c.(1477-1482)gaa>ga		chromosome 2 open reading frame 71																																				SO:0001651	inframe_deletion	388939				response to stimulus|visual perception	photoreceptor outer segment		g.chr2:29295647_29295649delTCC		CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.1479_1481delGGA	2.37:g.29295656_29295658delTCC	ENSP00000332809:p.Glu494del						p.EE493del	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN			1	1478_1480	-			493						In_Frame_Del	DEL	ENST00000331664.5	37	c.1479_1481delGGA	CCDS42669.1																																																																																				0.542	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000324924.3	NM_001029883		8	569						8	569	---	---	---	---
IRS1	3667	broad.mit.edu	37	2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr2:227660808_227660810delGCT	ENST00000305123.5	-	1	3665_3667	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	882	Poly-Gln.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626																																						ENST00000305123.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(2644-2649)ccc>c		insulin receptor substrate 1																																				SO:0001651	inframe_deletion	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660808_227660810delGCT		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2645_2647delAGC	2.37:g.227660817_227660819delGCT	ENSP00000304895:p.Gln882del						p.QP882del	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3665_3667	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	882			Poly-Gln.			In_Frame_Del	DEL	ENST00000305123.5	37	c.2645_2647delAGC	CCDS2463.1																																																																																				0.626	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544		7	310						7	310	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		11	375						11	375	---	---	---	---
N4BP2	55728	broad.mit.edu	37	4	40144448	40144449	+	Frame_Shift_Ins	INS	-	-	A			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr4:40144448_40144449insA	ENST00000261435.6	+	15	5357_5358	c.4941_4942insA	c.(4942-4944)aaafs	p.K1648fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1648					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATCGGATAGGGAAAAAAAATGT	0.396																																						ENST00000261435.6																			0				breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						c.(4939-4944)ggaaaafs		NEDD4 binding protein 2																																				SO:0001589	frameshift_variant	55728					cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding	g.chr4:40144448_40144449insA	AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4949dupA	4.37:g.40144456_40144456dupA	ENSP00000261435:p.Lys1648fs						p.GK1647fs	NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN			15	5357_5358	+			1647					A0AVR3|Q9NVK2|Q9P2D4	Frame_Shift_Ins	INS	ENST00000261435.6	37	c.4941_4942insA	CCDS3457.1																																																																																				0.396	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250458.2	NM_018177		7	402						7	402	---	---	---	---
DNAH5	1767	broad.mit.edu	37	5	13919383	13919383	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:13919383delT	ENST00000265104.4	-	7	981	c.877delA	c.(877-879)agafs	p.R293fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	293	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTGGAGAGTCTTTTTTTCCAG	0.517									Kartagener syndrome																													ENST00000265104.4																			0				NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378						c.(877-879)gafs		dynein, axonemal, heavy chain 5							145.0	157.0	153.0					5																	13919383		2203	4300	6503	SO:0001589	frameshift_variant	1767	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13919383delT	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.877delA	5.37:g.13919383delT	ENSP00000265104:p.Arg293fs						p.R293fs	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN			7	981	-	Lung NSC(4;0.00476)		293			Stem (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Frame_Shift_Del	DEL	ENST00000265104.4	37	c.877delA	CCDS3882.1																																																																																				0.517	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369		10	1141						10	1141	---	---	---	---
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-	rs376016449		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccaccc>ccc	p.131_132PP>P		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				multicellular organismal development (GO:0007275)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483																																						ENST00000265069.8																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32						c.(391-396)ccc>cc		zinc finger RNA binding protein																																				SO:0001651	inframe_deletion	51663				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	g.chr5:32419951_32419953delGGT	AF100742	CCDS34139.1	5p15.2	2014-03-03			ENSG00000056097	ENSG00000056097			17277	protein-coding gene	gene with protein product		615635				11574164, 24482476	Standard	NM_016107		Approved	ZFR1, SPG71	uc003jhr.1	Q96KR1	OTTHUMG00000161979	ENST00000265069.8:c.393_395delACC	5.37:g.32419960_32419962delGGT	ENSP00000265069:p.Pro133del						p.PP131del	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN		STAD - Stomach adenocarcinoma(35;0.19)	3	495_497	-			131			Ala-rich.		B2RNR5|Q05C08|Q3B7X5|Q6P5A3|Q86UA0|Q9H6V4|Q9NTI1|Q9Y687	In_Frame_Del	DEL	ENST00000265069.8	37	c.393_395delACC	CCDS34139.1																																																																																				0.483	ZFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366586.1			9	874						9	874	---	---	---	---
DEK	7913	broad.mit.edu	37	6	18264079	18264081	+	In_Frame_Del	DEL	TCC	TCC	-	rs377513079		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:18264079_18264081delTCC	ENST00000397239.3	-	2	585_587	c.138_140delGGA	c.(136-141)gaggaa>gaa	p.46_47EE>E	DEK_ENST00000244776.7_In_Frame_Del_p.46_47EE>E	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK proto-oncogene	46	Asp/Glu-rich (highly acidic).				chromatin modification (GO:0016568)|regulation of double-strand break repair (GO:2000779)|regulation of double-strand break repair via nonhomologous end joining (GO:2001032)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			CCCACCTTTTtcctcctcctcct	0.532			T	NUP214	AML																																	ENST00000397239.3				Dom	yes		6	6p23	7913	T	DEK oncogene (DNA binding)			L	NUP214		AML		0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7						c.(136-141)gaa>ga		DEK oncogene			,	77,1,4184		12,0,53,0,1,2065					,	-0.3	1.0			50	90,5,8159		17,0,56,0,5,4049	no	codingComplex,codingComplex	DEK	NM_003472.3,NM_001134709.1	,	29,0,109,0,6,6114	A1A1,A1A2,A1R,A2A2,A2R,RR		1.151,1.8301,1.3822	,	,		167,6,12343				SO:0001651	inframe_deletion	7913				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding	g.chr6:18264079_18264081delTCC	X64229	CCDS34344.1, CCDS47382.1	6p23	2014-06-25	2014-06-25		ENSG00000124795	ENSG00000124795			2768	protein-coding gene	gene with protein product		125264	"""DEK oncogene (DNA binding)"", ""DEK oncogene"""			1549122	Standard	NM_003472		Approved	D6S231E	uc003ncr.1	P35659	OTTHUMG00000014319	ENST00000397239.3:c.138_140delGGA	6.37:g.18264088_18264090delTCC	ENSP00000380414:p.Glu47del					DEK_ENST00000244776.7_In_Frame_Del_p.EE46del	p.EE46del	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)		2	585_587	-	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	46			Asp/Glu-rich (highly acidic).		B2R6K6|B4DN37|Q5TGV4|Q5TGV5	In_Frame_Del	DEL	ENST00000397239.3	37	c.138_140delGGA	CCDS34344.1																																																																																				0.532	DEK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039962.4			7	555						7	555	---	---	---	---
BTN2A3P	54718	broad.mit.edu	37	6	26422388	26422390	+	RNA	DEL	CCT	CCT	-	rs113134648	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:26422388_26422390delCCT	ENST00000466808.2	+	0	42_44							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)											GGCCAGCCTCCCTCCTCCTCCTC	0.586																																						ENST00000466808.2																			0																	383,304,2,3575		10,8,0,355,12,0,272,0,2,1473						0.4	0.0		dbSNP_134	150	684,576,1,6991		22,7,0,633,28,0,513,0,1,2922	no	intergenic				32,15,0,988,40,0,785,0,3,4395	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		15.2811,16.1585,15.5801				1067,880,3,10566						0							g.chr6:26422388_26422390delCCT	AL021917		6p22.1	2014-01-14	2011-09-06	2011-09-06	ENSG00000124549	ENSG00000124549		"""Butyrophilins"""	13229	pseudogene	pseudogene		613592	"""butyrophilin, subfamily 2, member A3"""	BTN2A3			Standard	NR_027795		Approved	BTN2.3	uc011dkl.1	Q96KV6	OTTHUMG00000014453		6.37:g.26422397_26422399delCCT														0	42_44	+								A6NEF4	RNA	DEL	ENST00000466808.2	37																																																																																						0.586	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		15	933						15	933	---	---	---	---
HCP5	10866	broad.mit.edu	37	6	31410118	31410118	+	RNA	DEL	G	G	-	rs11367819|rs373972786|rs80129491		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:31410118delG	ENST00000414046.2	+	0	62				XXbac-BPG181B23.4_ENST00000430364.1_lincRNA	NR_040662.1		Q6MZN7	HCP5_HUMAN	HLA complex P5 (non-protein coding)						defense response (GO:0006952)					urinary_tract(1)	1						ttctttataaGggggggggag	0.463																																						ENST00000414046.2																			0				urinary_tract(1)	1																																														0				defense response			g.chr6:31410118delG	D88650		6p21.3	2012-10-16	2011-08-02		ENSG00000206337	ENSG00000206337		"""Long non-coding RNAs"""	21659	non-coding RNA	RNA, long non-coding		604676	"""HLA complex P5"""			8462994, 10199916	Standard	NR_040662		Approved	D6S2650E, P5-1	uc003ntl.3	Q6MZN7	OTTHUMG00000031282		6.37:g.31410118delG						XXbac-BPG181B23.4_ENST00000430364.1_lincRNA		NR_040662.1		Q6MZN7	HCP5_HUMAN			0	62	+								Q04490	RNA	DEL	ENST00000414046.2	37																																																																																						0.463	HCP5-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000076614.4	NR_040662		6	2						6	2	---	---	---	---
PRRC2A	7916	broad.mit.edu	37	6	31604005	31604005	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:31604005delC	ENST00000376033.2	+	26	5878	c.5644delC	c.(5644-5646)cccfs	p.P1883fs	PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P1883fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	1883						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCTATACCTACCCCCCGGCCC	0.522																																						ENST00000376033.2																			0				breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						c.(5644-5646)ccfs		proline-rich coiled-coil 2A							109.0	147.0	134.0					6																	31604005		1506	2709	4215	SO:0001589	frameshift_variant	7916					cytoplasm|nucleus	protein binding	g.chr6:31604005delC	M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.5644delC	6.37:g.31604005delC	ENSP00000365201:p.Pro1883fs					PRRC2A_ENST00000376007.4_Frame_Shift_Del_p.P1883fs	p.P1883fs	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN			26	5878	+			1883					B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Frame_Shift_Del	DEL	ENST00000376033.2	37	c.5644delC	CCDS4708.1																																																																																				0.522	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259319.1	NM_080686		7	1727						7	1727	---	---	---	---
COL11A2	1302	broad.mit.edu	37	6	33139837	33139837	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:33139837delG	ENST00000374708.4	-	39	3032	c.2774delC	c.(2773-2775)cctfs	p.P925fs	COL11A2_ENST00000395197.1_Frame_Shift_Del_p.P951fs|COL11A2_ENST00000357486.1_Frame_Shift_Del_p.P990fs|COL11A2_ENST00000374712.1_Frame_Shift_Del_p.P930fs|COL11A2_ENST00000341947.2_Frame_Shift_Del_p.P1011fs|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000374714.1_Frame_Shift_Del_p.P985fs|COL11A2_ENST00000374713.1_Frame_Shift_Del_p.P964fs|COL11A2_ENST00000361917.1_Frame_Shift_Del_p.P904fs	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	1011	Triple-helical region.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGCAGGGCCAGGGGGGCCAGA	0.582																																					Melanoma(1;90 116 3946 5341 17093)	ENST00000341947.2																			0				biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						c.(3031-3033)ctfs		collagen, type XI, alpha 2							128.0	161.0	149.0					6																	33139837		1508	2706	4214	SO:0001589	frameshift_variant	1302				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	g.chr6:33139837delG	U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.2774delC	6.37:g.33139837delG	ENSP00000363840:p.Pro925fs					COL11A2_ENST00000361917.1_Frame_Shift_Del_p.P904fs|COL11A2_ENST00000374708.4_Frame_Shift_Del_p.P925fs|COL11A2_ENST00000374712.1_Frame_Shift_Del_p.P930fs|COL11A2_ENST00000477772.1_Intron|COL11A2_ENST00000395197.1_Frame_Shift_Del_p.P951fs|COL11A2_ENST00000374714.1_Frame_Shift_Del_p.P985fs|COL11A2_ENST00000374713.1_Frame_Shift_Del_p.P964fs|COL11A2_ENST00000357486.1_Frame_Shift_Del_p.P990fs	p.P1011fs	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN			41	3259	-			1011			Triple-helical region.		A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Frame_Shift_Del	DEL	ENST00000374708.4	37	c.3032delC	CCDS43452.1																																																																																				0.582	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000076032.2			7	976						7	976	---	---	---	---
TREML2	79865	broad.mit.edu	37	6	41168714	41168716	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:41168714_41168716delCAG	ENST00000483722.1	-	1	216_218	c.31_33delCTG	c.(31-33)ctgdel	p.L11del		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGTGGCCACAGCAGCAGCAGC	0.631																																						ENST00000483722.1																			0				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18						c.(31-33)del		triggering receptor expressed on myeloid cells-like 2				143,4121		8,127,1997						4.0	1.0			26	249,8005		8,233,3886	no	coding	TREML2	NM_024807.2		16,360,5883	A1A1,A1R,RR		3.0167,3.3537,3.1315				392,12126				SO:0001651	inframe_deletion	79865				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	g.chr6:41168714_41168716delCAG	AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.31_33delCTG	6.37:g.41168723_41168725delCAG	ENSP00000418767:p.Leu11del						p.L11del	NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN			1	216_218	-	Ovarian(28;0.0418)|Colorectal(47;0.196)		11					Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	In_Frame_Del	DEL	ENST00000483722.1	37	c.31_33delCTG	CCDS4853.2																																																																																				0.631	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043756.3	NM_024807		11	162						11	162	---	---	---	---
IFNGR1	3459	broad.mit.edu	37	6	137519505	137519506	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr6:137519505_137519506delCT	ENST00000367739.4	-	7	1253_1254	c.1132_1133delAG	c.(1132-1134)agtfs	p.S380fs	IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	380					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	AGGTGAAGAACTCTCTCTCTCT	0.431																																						ENST00000367739.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(1132-1134)tfs		interferon gamma receptor 1	Interferon gamma-1b(DB00033)																																			SO:0001589	frameshift_variant	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519505_137519506delCT		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1132_1133delAG	6.37:g.137519515_137519516delCT	ENSP00000356713:p.Ser380fs					IFNGR1_ENST00000543628.1_Frame_Shift_Del_p.S352fs	p.S380fs	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1253_1254	-	Colorectal(23;0.24)		380					B4DFT7|E1P587|Q53Y96	Frame_Shift_Del	DEL	ENST00000367739.4	37	c.1132_1133delAG	CCDS5185.1																																																																																				0.431	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			8	473						8	473	---	---	---	---
POM121C	100101267	broad.mit.edu	37	7	75070256	75070257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:75070256_75070257insG	ENST00000257665.5	-	3	927_928	c.928_929insC	c.(928-930)cttfs	p.L310fs	POM121C_ENST00000453279.2_Frame_Shift_Ins_p.L68fs			A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	310	Pore side. {ECO:0000255}.|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|nuclear pore (GO:0005643)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGGCCATCAAGGAATATTTGG	0.46																																						ENST00000453279.2																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						c.(202-204)tgafs		POM121 transmembrane nucleoporin C																																				SO:0001589	frameshift_variant	100101267				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	g.chr7:75070256_75070257insG		CCDS47617.1	7q11.23	2012-03-13	2012-03-13		ENSG00000135213	ENSG00000272391			34005	protein-coding gene	gene with protein product		615754	"""POM121 membrane glycoprotein C"""			17900573	Standard	NM_001099415		Approved		uc003udk.4	A8CG34	OTTHUMG00000156238	ENST00000257665.5:c.929dupC	7.37:g.75070258_75070258dupG	ENSP00000257665:p.Leu310fs					POM121C_ENST00000257665.5_Frame_Shift_Ins_p.*310fs	p.*68fs	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN			5	1066_1067	-			310			Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.		O75115|Q9Y2N3|Q9Y4S7	Frame_Shift_Ins	INS	ENST00000257665.5	37	c.202_203insC																																																																																					0.460	POM121C-003	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000343919.2	NM_001099415		47	981						47	981	---	---	---	---
TMEM229A	730130	broad.mit.edu	37	7	123672457	123672459	+	In_Frame_Del	DEL	GCT	GCT	-	rs71163719|rs374529977|rs566327350|rs72310362	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr7:123672457_123672459delGCT	ENST00000455783.1	-	1	1064_1066	c.599_601delAGC	c.(598-603)cagcgg>cgg	p.Q200del	RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A	200						host cell nucleus (GO:0042025)|integral component of membrane (GO:0016021)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)	6						GCGCCCCTCCgctgctgctgctg	0.754														347	0.0692891	0.1271	0.0317	5008	,	,		13703	0.0417		0.0427	False		,,,				2504	0.0736					ENST00000455783.1																			0				endometrium(3)|kidney(3)	6						c.(598-603)cgg>c		transmembrane protein 229A																																				SO:0001651	inframe_deletion	730130					host cell nucleus|integral to membrane	sequence-specific DNA binding transcription factor activity	g.chr7:123672457_123672459delGCT	BC157828	CCDS47694.1	7q31.32	2009-09-22			ENSG00000234224	ENSG00000234224			37279	protein-coding gene	gene with protein product							Standard	NM_001136002		Approved		uc011kob.2	B2RXF0	OTTHUMG00000154762	ENST00000455783.1:c.599_601delAGC	7.37:g.123672466_123672468delGCT	ENSP00000395244:p.Gln200del					RP5-921G16.1_ENST00000484322.1_RNA	p.QR200del	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN			1	1064_1066	-			200					A4D0X6	In_Frame_Del	DEL	ENST00000455783.1	37	c.599_601delAGC	CCDS47694.1																																																																																				0.754	TMEM229A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336960.3	NM_001136002		5	5						5	5	---	---	---	---
KCNB2	9312	broad.mit.edu	37	8	73480397	73480397	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr8:73480397delA	ENST00000523207.1	+	2	1016	c.428delA	c.(427-429)caafs	p.Q143fs		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	143					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)	p.E146fs*3(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	AGATATCATCAAAAAAAAGAA	0.448																																						ENST00000523207.1																			1	Deletion - Frameshift(1)	p.E146fs*3(1)	ovary(1)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85						c.(427-429)cafs		potassium voltage-gated channel, Shab-related subfamily, member 2							106.0	112.0	110.0					8																	73480397		2203	4300	6503	SO:0001589	frameshift_variant	9312				regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	g.chr8:73480397delA	U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.428delA	8.37:g.73480397delA	ENSP00000430846:p.Gln143fs						p.Q143fs	NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	Epithelial(68;0.105)		2	1016	+	Breast(64;0.137)		143					Q7Z7D0|Q9BXD3	Frame_Shift_Del	DEL	ENST00000523207.1	37	c.428delA	CCDS6209.1																																																																																				0.448	KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770		7	540						7	540	---	---	---	---
TP53INP1	94241	broad.mit.edu	37	8	95952409	95952411	+	In_Frame_Del	DEL	TCT	TCT	-	rs548441545|rs563445319	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr8:95952409_95952411delTCT	ENST00000342697.4	-	3	557_559	c.150_152delAGA	c.(148-153)gaagag>gag	p.50_51EE>E	TP53INP1_ENST00000448464.2_In_Frame_Del_p.50_51EE>E|NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000378776.4_In_Frame_Del_p.50_51EE>E	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	50	Glu-rich.				apoptotic process (GO:0006915)|autophagic cell death (GO:0048102)|autophagy (GO:0006914)|cell cycle arrest (GO:0007050)|cellular response to ethanol (GO:0071361)|cellular response to hydroperoxide (GO:0071447)|cellular response to methyl methanesulfonate (GO:0072703)|cellular response to UV (GO:0034644)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of autophagy (GO:0010508)|positive regulation of transcription, DNA-templated (GO:0045893)|response to heat (GO:0009408)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|nucleus (GO:0005634)	antioxidant activity (GO:0016209)	p.E50E(1)		kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GATGTCCTCCTCTTCTTCTTCTT	0.458														16	0.00319489	0.0045	0.0014	5008	,	,		22458	0.0		0.001	False		,,,				2504	0.0082					ENST00000342697.4																			1	Substitution - coding silent(1)	p.E50E(1)	large_intestine(1)	kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9						c.(148-153)gag>ga		tumor protein p53 inducible nuclear protein 1			,	50,2,4210		0,0,50,0,2,2079					,	-3.8	0.0			119	68,3,8183		0,0,68,0,3,4056	no	codingComplex,codingComplex	TP53INP1	NM_033285.3,NM_001135733.1	,	0,0,118,0,5,6135	A1A1,A1A2,A1R,A2A2,A2R,RR		0.8602,1.2201,0.9827	,	,		118,5,12393				SO:0001651	inframe_deletion	0				apoptosis	PML body		g.chr8:95952409_95952411delTCT	AF409115	CCDS6265.1, CCDS47899.1	8q22	2004-03-11				ENSG00000164938			18022	protein-coding gene	gene with protein product		606185				11511362, 12438758	Standard	NM_033285		Approved	DKFZp434M1317, FLJ22139, P53DINP1, SIP, TP53INP1A, TP53INP1B, Teap	uc003yhg.3	Q96A56		ENST00000342697.4:c.150_152delAGA	8.37:g.95952418_95952420delTCT	ENSP00000344215:p.Glu52del					NDUFAF6_ENST00000396113.1_Intron|TP53INP1_ENST00000448464.2_In_Frame_Del_p.EE50del|TP53INP1_ENST00000378776.4_In_Frame_Del_p.EE50del	p.EE50del	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN			3	557_559	-	Breast(36;8.75e-07)		50			Glu-rich.		B2RCE5|Q969R9	In_Frame_Del	DEL	ENST00000342697.4	37	c.150_152delAGA	CCDS6265.1																																																																																				0.458	TP53INP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379818.1			9	244						9	244	---	---	---	---
MYC	4609	broad.mit.edu	37	8	128750605	128750607	+	In_Frame_Del	DEL	CAG	CAG	-	rs61752959	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr8:128750605_128750607delCAG	ENST00000259523.6	+	2	1302_1304	c.97_99delCAG	c.(97-99)cagdel	p.Q37del	MYC_ENST00000377970.2_In_Frame_Del_p.Q52del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del			P01106	MYC_HUMAN	v-myc avian myelocytomatosis viral oncogene homolog	37	Poly-Gln.				branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|cell cycle arrest (GO:0007050)|cellular iron ion homeostasis (GO:0006879)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|chromosome organization (GO:0051276)|energy reserve metabolic process (GO:0006112)|fibroblast apoptotic process (GO:0044346)|gene expression (GO:0010467)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell division (GO:0051782)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of stress-activated MAPK cascade (GO:0032873)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|oxygen transport (GO:0015671)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of metanephric cap mesenchymal cell proliferation (GO:0090096)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of telomere maintenance (GO:0032204)|response to drug (GO:0042493)|response to gamma radiation (GO:0010332)|response to growth factor (GO:0070848)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|E-box binding (GO:0070888)|protein complex binding (GO:0032403)|repressing transcription factor binding (GO:0070491)|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 DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.Q33H(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	Nadroparin(DB08813)	GAACTTCTACCAGCAGCAGCAGC	0.611		3	"""A, T"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""	"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""						OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000377970.2		3		Dom	yes		8	8q24.12-q24.13	4609	"""A, T"""	v-myc myelocytomatosis viral oncogene homolog (avian)			"""L, E"""	"""IGK@, BCL5, BCL7A , BTG1, TRA@, IGH@"""		"""Burkitt lymphoma,  amplified in other cancers, B-CLL"""		1	Substitution - Missense(1)	p.Q33H(1)	skin(1)	central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	16						c.(142-144)del		v-myc avian myelocytomatosis viral oncogene homolog																																				SO:0001651	inframe_deletion	4609				branching involved in ureteric bud morphogenesis|cell cycle arrest|cell proliferation|cellular iron ion homeostasis|positive regulation of metanephric cap mesenchymal cell proliferation|positive regulation of transcription, DNA-dependent|regulation of telomere maintenance|regulation of transcription from RNA polymerase II promoter|response to drug	nucleolus|nucleoplasm	E-box binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr8:128750605_128750607delCAG		CCDS6359.2	8q24	2013-07-09	2013-07-09		ENSG00000136997	ENSG00000136997		"""Basic helix-loop-helix proteins"""	7553	protein-coding gene	gene with protein product		190080					Standard	NM_002467		Approved	c-Myc, bHLHe39, MYCC	uc003ysi.3	P01106	OTTHUMG00000128475	ENST00000259523.6:c.97_99delCAG	8.37:g.128750614_128750616delCAG	ENSP00000259523:p.Gln37del		OREG0018982	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1567	MYC_ENST00000259523.6_In_Frame_Del_p.Q37del|MYC_ENST00000524013.1_In_Frame_Del_p.Q51del	p.Q52del	NM_002467.4	NP_002458.2	P01106	MYC_HUMAN	Epithelial(1;1.63e-94)|all cancers(1;5.82e-87)|OV - Ovarian serous cystadenocarcinoma(1;2.12e-71)|BRCA - Breast invasive adenocarcinoma(1;4.3e-14)|Lung(2;0.000381)|Colorectal(2;0.0102)|LUAD - Lung adenocarcinoma(14;0.0172)|READ - Rectum adenocarcinoma(2;0.0723)|LUSC - Lung squamous cell carcinoma(258;0.151)	KIRC - Kidney renal clear cell carcinoma(542;0.248)	2	652_654	+	all_cancers(1;6.19e-134)|all_epithelial(1;1.75e-119)|all_lung(1;5.66e-51)|Breast(1;1.08e-22)|all_neural(1;4.45e-21)|Medulloblastoma(1;1.88e-20)|Colorectal(1;1.92e-09)|Lung SC(1;4.52e-07)|Ovarian(5;0.000122)|Esophageal squamous(12;0.000995)|Renal(1;0.0921)|Hepatocellular(40;0.108)|Myeloproliferative disorder(2;0.135)|Melanoma(291;0.185)	Myeloproliferative disorder(644;0.0255)|Ovarian(118;0.0654)|Breast(495;0.212)|Acute lymphoblastic leukemia(644;0.22)	37					A8WFE7|P01107|Q14026	In_Frame_Del	DEL	ENST00000259523.6	37	c.142_144delCAG																																																																																					0.611	MYC-002	PUTATIVE	basic|appris_candidate_longest|exp_conf	protein_coding	protein_coding	OTTHUMT00000250278.1			8	292						8	292	---	---	---	---
COL15A1	1306	broad.mit.edu	37	9	101797370	101797371	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr9:101797370_101797371insC	ENST00000375001.3	+	18	2577_2578	c.2154_2155insC	c.(2155-2157)cccfs	p.P719fs		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	719	Collagen-like 2.|Triple-helical region 2 (COL2).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGGTCATGGGACCCCCAGGGCC	0.584																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(2152-2157)ggccccfs		collagen, type XV, alpha 1																																				SO:0001589	frameshift_variant	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101797370_101797371insC	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2159dupC	9.37:g.101797375_101797375dupC	ENSP00000364140:p.Pro719fs						p.GP718fs	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			18	2577_2578	+		Acute lymphoblastic leukemia(62;0.0562)	718			Triple-helical region 2 (COL2).		Q5T6J4|Q9UDC5|Q9Y4W4	Frame_Shift_Ins	INS	ENST00000375001.3	37	c.2154_2155insC	CCDS35081.1																																																																																				0.584	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		8	415						8	415	---	---	---	---
SMARCC2	6601	broad.mit.edu	37	12	56559127	56559128	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:56559127_56559128insG	ENST00000267064.4	-	26	3199_3200	c.3113_3114insC	c.(3112-3114)ccafs	p.P1038fs	SMARCC2_ENST00000394023.3_Frame_Shift_Ins_p.P1069fs|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.P1069fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.P1069fs	NM_003075.3	NP_003066.2	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1038	Pro-rich.				ATP-dependent chromatin remodeling (GO:0043044)|chromatin remodeling (GO:0006338)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter involved in forebrain neuron fate commitment (GO:0021882)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGGAACCCCTGGTGGGACTGC	0.584																																						ENST00000394023.3																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41						c.(3205-3207)cggfs		SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2																																				SO:0001589	frameshift_variant	6601				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity	g.chr12:56559127_56559128insG	U66616	CCDS8907.1, CCDS8908.1, CCDS55835.1	12q13.2	2008-05-14				ENSG00000139613			11105	protein-coding gene	gene with protein product		601734				8804307, 9693044	Standard	NM_001130420		Approved	BAF170, Rsc8, CRACC2	uc001skb.3	Q8TAQ2	OTTHUMG00000170288	ENST00000267064.4:c.3114dupC	12.37:g.56559129_56559129dupG	ENSP00000267064:p.Pro1038fs					SMARCC2_ENST00000550164.1_Frame_Shift_Ins_p.R1069fs|SMARCC2_ENST00000347471.4_Frame_Shift_Ins_p.R1069fs|SMARCC2_ENST00000267064.4_Frame_Shift_Ins_p.R1038fs|RP11-977G19.5_ENST00000553176.1_RNA	p.R1069fs	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		27	3311_3312	-			1038			Pro-rich.		F8VTJ5|Q59GV3|Q92923|Q96E12|Q96GY4	Frame_Shift_Ins	INS	ENST00000267064.4	37	c.3206_3207insC	CCDS8907.1																																																																																				0.584	SMARCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408370.1			7	310						7	310	---	---	---	---
SLC39A5	283375	broad.mit.edu	37	12	56628997	56628999	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:56628997_56628999delCTG	ENST00000266980.4	+	5	984_986	c.691_693delCTG	c.(691-693)ctgdel	p.L234del	SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del|ANKRD52_ENST00000548241.1_5'Flank	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	234					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TCCCCTATCCCTGCTGCTGCTGC	0.635																																						ENST00000266980.4																			0				NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(691-693)del		solute carrier family 39 (zinc transporter), member 5																																				SO:0001651	inframe_deletion	283375				zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	g.chr12:56628997_56628999delCTG		CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.691_693delCTG	12.37:g.56629006_56629008delCTG	ENSP00000266980:p.Leu234del					SLC39A5_ENST00000454355.2_In_Frame_Del_p.L234del	p.L234del	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN			5	984_986	+			234					B2R808|Q8N6Y3	In_Frame_Del	DEL	ENST00000266980.4	37	c.691_693delCTG	CCDS8912.2																																																																																				0.635	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346834.1	NM_173596		9	951						9	951	---	---	---	---
B4GALNT1	2583	broad.mit.edu	37	12	58025102	58025103	+	Frame_Shift_Ins	INS	-	-	C			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:58025102_58025103insC	ENST00000341156.4	-	3	847_848	c.263_264insG	c.(262-264)ggcfs	p.G88fs	B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.G88fs|B4GALNT1_ENST00000418555.2_Intron	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	88					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid metabolic process (GO:0006687)|lipid glycosylation (GO:0030259)|lipid storage (GO:0019915)|protein glycosylation (GO:0006486)|spermatogenesis (GO:0007283)	integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)|plasma membrane (GO:0005886)	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity (GO:0003947)	p.G88fs*24(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGAGGGGGAGGCCCCCCCCACT	0.589																																						ENST00000341156.4																			1	Deletion - Frameshift(1)	p.G88fs*24(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20						c.(262-264)gctfs		beta-1,4-N-acetyl-galactosaminyl transferase 1				32,4228		0,32,2098						1.8	0.0			83	25,8229		0,25,4102	no	frameshift	B4GALNT1	NM_001478.3		0,57,6200	A1A1,A1R,RR		0.3029,0.7512,0.4555				57,12457				SO:0001589	frameshift_variant	2583				lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity	g.chr12:58025102_58025103insC	M83651	CCDS8950.1, CCDS61170.1, CCDS61171.1	12q13.3	2013-09-11	2006-01-08	2006-01-08	ENSG00000135454	ENSG00000135454	2.4.1.92	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	4117	protein-coding gene	gene with protein product	"""GD2 synthase, GM2 synthase"""	601873	"""UDP-N-acetyl-alpha-D-galactosamine:(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase (GalNAc-T)"", ""UDP-Gal:betaGlcNAc beta-1,4-N-acetylgalactosaminyltransferase transferase 1"", ""spastic paraplegia 26"""	GALGT, SPG26		1601877, 23746551	Standard	NM_001478		Approved	beta1-4GalNAc-T	uc001spg.2	Q00973	OTTHUMG00000170190	ENST00000341156.4:c.264dupG	12.37:g.58025110_58025110dupC	ENSP00000341562:p.Gly88fs					B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000550764.1_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000550943.1_Intron|B4GALNT1_ENST00000449184.3_Frame_Shift_Ins_p.A88fs|B4GALNT1_ENST00000552350.1_Frame_Shift_Ins_p.A88fs	p.A88fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.109)		3	847_848	-	Melanoma(17;0.122)		88					B4DE26|Q8N636	Frame_Shift_Ins	INS	ENST00000341156.4	37	c.263_264insG	CCDS8950.1																																																																																				0.589	B4GALNT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407853.1	NM_001478		8	495						8	495	---	---	---	---
HSP90B1	7184	broad.mit.edu	37	12	104326605	104326605	+	Splice_Site	DEL	T	T	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:104326605delT	ENST00000299767.5	+	4	478	c.296delT	c.(295-297)att>at	p.I99fs	RP11-642P15.1_ENST00000548897.1_RNA|MIR3652_ENST00000579335.1_RNA	NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	99					actin rod assembly (GO:0031247)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cellular response to ATP (GO:0071318)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|protein folding (GO:0006457)|protein transport (GO:0015031)|regulation of phosphoprotein phosphatase activity (GO:0043666)|response to hypoxia (GO:0001666)|sequestering of calcium ion (GO:0051208)|toll-like receptor signaling pathway (GO:0002224)	cytosol (GO:0005829)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|low-density lipoprotein particle receptor binding (GO:0050750)|protein phosphatase binding (GO:0019903)|RNA binding (GO:0003723)|virion binding (GO:0046790)			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	TCCATTTAGATTTTCCTGAGA	0.348																																						ENST00000299767.5																			0				central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29						c.e4-1		heat shock protein 90kDa beta (Grp94), member 1	Rifabutin(DB00615)						110.0	113.0	112.0					12																	104326605		2202	4300	6502	SO:0001630	splice_region_variant	7184				actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding	g.chr12:104326605delT	AY040226	CCDS9094.1	12q24.2-q24.3	2011-09-02	2006-02-24	2006-02-24		ENSG00000166598		"""Heat shock proteins / HSPC"""	12028	protein-coding gene	gene with protein product		191175	"""tumor rejection antigen (gp96) 1"""	TRA1		16269234	Standard	NM_003299		Approved	GP96, GRP94	uc001tkb.2	P14625	OTTHUMG00000170118	ENST00000299767.5:c.295-1T>-	12.37:g.104326605delT							p.I99_splice	NM_003299.1	NP_003290.1	P14625	ENPL_HUMAN			4	478	+			99					Q96A97	Splice_Site	DEL	ENST00000299767.5	37	c.294_splice	CCDS9094.1																																																																																				0.348	HSP90B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407349.1	NM_003299	Frame_Shift_Del	144	476						144	476	---	---	---	---
POLE	5426	broad.mit.edu	37	12	133220099	133220100	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr12:133220099_133220100delCA	ENST00000320574.5	-	34	4380_4381	c.4337_4338delTG	c.(4336-4338)gtgfs	p.V1447fs	POLE_ENST00000434528.3_5'Flank|POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1447					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	GTTTATTGACCACACACACACA	0.604								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4336-4338)gfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit																																				SO:0001589	frameshift_variant	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133220099_133220100delCA		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4337_4338delTG	12.37:g.133220109_133220110delCA	ENSP00000322570:p.Val1447fs					POLE_ENST00000535270.1_Frame_Shift_Del_p.V1420fs	p.V1447fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	34	4380_4381	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1447					Q13533|Q86VH9	Frame_Shift_Del	DEL	ENST00000320574.5	37	c.4337_4338delTG	CCDS9278.1																																																																																				0.604	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		13	1087						13	1087	---	---	---	---
RP11-597A11.1	0	broad.mit.edu	37	14	20138376	20138376	+	RNA	DEL	G	G	-	rs542749146|rs374461730|rs57620493		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:20138376delG	ENST00000548261.1	+	0	391																											ACAaaagaaagaaagaaagaa	0.388																																						ENST00000548261.1																			0																																																			0							g.chr14:20138376delG																													14.37:g.20138376delG														0	391	+									RNA	DEL	ENST00000548261.1	37																																																																																						0.388	RP11-597A11.1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000409571.1			4	6						4	6	---	---	---	---
CTAGE5	4253	broad.mit.edu	37	14	39746242	39746243	+	Frame_Shift_Ins	INS	-	-	T	rs75842899|rs78536283	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:39746242_39746243insT	ENST00000280083.3	+	2	482_483	c.168_169insT	c.(169-171)tttfs	p.F57fs	CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000556148.1_Intron|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.F28fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000557038.1_5'UTR|RP11-407N17.3_ENST00000553728.1_Frame_Shift_Ins_p.F592fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.F57fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.F45fs			O15320	CTGE5_HUMAN	CTAGE family, member 5	57					positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		TTGCTGTTCTCTTTTTTTTGTG	0.371																																						ENST00000553728.1																			0											c.(1771-1776)ctttttfs																																						SO:0001589	frameshift_variant	0							g.chr14:39746242_39746243insT	U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.176dupT	14.37:g.39746250_39746250dupT	ENSP00000280083:p.Phe57fs					CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000557038.1_5'UTR|CTAGE5_ENST00000556148.1_Intron|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.LF56fs|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.LF27fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.LF27fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.LF44fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.LF27fs	p.LF591fs							6	1986_1987	+								B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Frame_Shift_Ins	INS	ENST00000280083.3	37	c.1773_1774insT	CCDS9674.1																																																																																				0.371	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000276771.2	NM_005930		7	351						7	351	---	---	---	---
OTX2-AS1	100309464	broad.mit.edu	37	14	57509058	57509064	+	RNA	DEL	TCCAAGC	TCCAAGC	-	rs369895963	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:57509058_57509064delTCCAAGC	ENST00000554725.1	+	0	344									OTX2 antisense RNA 1 (head to head)																		CCAGAAGCCTTCCAAGCTCCAAGCCCT	0.483														289	0.0577077	0.0681	0.0548	5008	,	,		16601	0.003		0.1352	False		,,,				2504	0.0225					ENST00000554725.1																			0																																																			0							g.chr14:57509058_57509064delTCCAAGC	BC041486		14q22.3	2012-10-19	2012-10-17		ENSG00000248550	ENSG00000248550		"""Long non-coding RNAs"", ""-"""	43906	non-coding RNA	RNA, long non-coding			"""OTX2 antisense RNA 1 (non-protein coding)"", ""OTX2 antisense RNA 1"""			15703187	Standard	NR_029385		Approved	OTX2OS1	uc001xcr.3		OTTHUMG00000171304		14.37:g.57509065_57509071delTCCAAGC														0	344	+									RNA	DEL	ENST00000554725.1	37																																																																																						0.483	OTX2-AS1-002	KNOWN	basic	antisense	antisense	OTTHUMT00000412895.1	NR_029385		7	56						7	56	---	---	---	---
BTBD7	55727	broad.mit.edu	37	14	93712186	93712188	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr14:93712186_93712188delTGC	ENST00000334746.5	-	10	2873_2875	c.2566_2568delGCA	c.(2566-2568)gcadel	p.A856del	BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del|BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	856	Poly-Ala.				multicellular organismal development (GO:0007275)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		GCTTCTCAGAtgctgctgctgct	0.537																																						ENST00000334746.5																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35						c.(2566-2568)del		BTB (POZ) domain containing 7																																				SO:0001651	inframe_deletion	55727							g.chr14:93712186_93712188delTGC	AB040958	CCDS32146.1, CCDS32147.1, CCDS73684.1	14q32.13	2013-01-08			ENSG00000011114	ENSG00000011114		"""BTB/POZ domain containing"""	18269	protein-coding gene	gene with protein product		610386				10819331, 11527404	Standard	NM_001289133		Approved	FLJ10648, FUP1	uc001ybo.3	Q9P203	OTTHUMG00000171269	ENST00000334746.5:c.2566_2568delGCA	14.37:g.93712195_93712197delTGC	ENSP00000335615:p.Ala856del					BTBD7_ENST00000393170.2_In_Frame_Del_p.A430del|BTBD7_ENST00000554565.1_In_Frame_Del_p.A505del	p.A856del	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)	10	2873_2875	-		all_cancers(154;0.08)	856			Poly-Ala.		A8K5V7|Q69Z05|Q7Z308|Q86TS0|Q9HAA4|Q9NVM0	In_Frame_Del	DEL	ENST00000334746.5	37	c.2566_2568delGCA	CCDS32146.1																																																																																				0.537	BTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412701.1	NM_001002860		8	278						8	278	---	---	---	---
RP11-519G16.3	0	broad.mit.edu	37	15	45755219	45755219	+	RNA	DEL	C	C	-	rs371818031		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr15:45755219delC	ENST00000560077.1	+	0	41				RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000559869.1_RNA|RP11-519G16.3_ENST00000559960.1_RNA																							accaccaccaccaccaccacc	0.597																																						ENST00000560077.1																			0																																																			0							g.chr15:45755219delC																													15.37:g.45755219delC						RP11-519G16.3_ENST00000558536.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA								0	41	+									RNA	DEL	ENST00000560077.1	37																																																																																						0.597	RP11-519G16.3-005	KNOWN	basic	antisense	antisense	OTTHUMT00000416549.1			3	4						3	4	---	---	---	---
FXR2	9513	broad.mit.edu	37	17	7496121	7496122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:7496121_7496122insG	ENST00000250113.7	-	14	1953_1954	c.1619_1620insC	c.(1618-1620)ccafs	p.P540fs	FXR2_ENST00000573057.1_5'Flank|SOX15_ENST00000570788.1_5'Flank|SOX15_ENST00000538513.2_5'Flank|SOX15_ENST00000250055.2_5'Flank	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	540						cytoplasm (GO:0005737)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.P540fs*32(1)|p.A541fs*14(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGGCACTTGCTGGGGGGGGTTC	0.609																																						ENST00000250113.7																			2	Deletion - Frameshift(1)|Insertion - Frameshift(1)	p.P540fs*32(1)|p.A541fs*14(1)	large_intestine(2)	NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26						c.(1618-1620)cgcfs		fragile X mental retardation, autosomal homolog 2																																				SO:0001589	frameshift_variant	9513					cytosolic large ribosomal subunit	protein binding|RNA binding	g.chr17:7496121_7496122insG	U31501	CCDS45604.1	17p13.3	2014-09-17				ENSG00000129245			4024	protein-coding gene	gene with protein product		605339		FMR1L2		7489725, 9259278	Standard	NM_004860		Approved		uc002gia.2	P51116		ENST00000250113.7:c.1620dupC	17.37:g.7496129_7496129dupG	ENSP00000250113:p.Pro540fs						p.R540fs	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN		READ - Rectum adenocarcinoma(115;0.17)	14	1953_1954	-			540					B2R9M2|D3DTQ1|Q86V09|Q8WUM2	Frame_Shift_Ins	INS	ENST00000250113.7	37	c.1619_1620insC	CCDS45604.1																																																																																				0.609	FXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441084.1			7	208						7	208	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7577131	7577132	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:7577131_7577132delGC	ENST00000269305.4	-	8	995_996	c.806_807delGC	c.(805-807)agcfs	p.S269fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.S269fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000413465.2_Intron	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	269	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in a sporadic cancer; 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.0?(8)|p.S269N(4)|p.S269S(3)|p.S269_F270>I(2)|p.?(2)|p.G266_E271delGRNSFE(2)|p.S269T(2)|p.G262_S269delGNLLGRNS(2)|p.G262_F270delGNLLGRNSF(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.L265_K305del41(1)|p.S269_F270insX(1)|p.E258fs*71(1)|p.S269R(1)|p.S269fs*34(1)|p.S269fs*21(1)|p.S269>XXXXX(1)|p.G262fs*2(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)	GCACCTCAAAGCTGTTCCGTCC	0.535		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"""		38	Whole gene deletion(8)|Deletion - In frame(7)|Substitution - Missense(7)|Deletion - Frameshift(6)|Substitution - coding silent(3)|Unknown(2)|Complex - deletion inframe(2)|Insertion - Frameshift(1)|Insertion - In frame(1)|Complex - insertion inframe(1)	p.0?(8)|p.S269N(4)|p.S269S(3)|p.S269_F270>I(2)|p.?(2)|p.G266_E271delGRNSFE(2)|p.S269T(2)|p.G262_S269delGNLLGRNS(2)|p.G262_F270delGNLLGRNSF(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.S269fs*3(1)|p.L265_K305del41(1)|p.S269_F270insX(1)|p.E258fs*71(1)|p.S269R(1)|p.S269fs*34(1)|p.S269fs*21(1)|p.S269>XXXXX(1)|p.G262fs*2(1)	haematopoietic_and_lymphoid_tissue(8)|large_intestine(4)|bone(4)|urinary_tract(3)|oesophagus(3)|breast(3)|upper_aerodigestive_tract(2)|stomach(2)|central_nervous_system(2)|lung(2)|ovary(2)|cervix(1)|eye(1)|prostate(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						c.(805-807)afs	Other conserved DNA damage response genes	tumor protein p53																																				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.chr17:7577131_7577132delGC	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.806_807delGC	17.37:g.7577131_7577132delGC	ENSP00000269305:p.Ser269fs	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_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.S269fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S269fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S269fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.S269fs	p.S269fs	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)	8	938_939	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	269		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|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.806_807delGC	CCDS11118.1																																																																																				0.535	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		21	73						21	73	---	---	---	---
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	IGR	DEL	T	T	-	rs548240589	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr17:60347260delT	ENST00000602932.1	-	0	397				TBC1D3P2_ENST00000581291.1_RNA																							CTCTGAATGATTTTTTTTTTT	0.448													|||unknown(NO_COVERAGE)	1228	0.245208	0.1778	0.2882	5008	,	,		28738	0.1518		0.3688	False		,,,				2504	0.2751					ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																												SO:0001628	intergenic_variant	0							g.chr17:60347260delT																													17.37:g.60347260delT														0	581	-									RNA	DEL	ENST00000602932.1	37																																																																																						0.448	RP11-51L5.7-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000467667.1			4	8						4	8	---	---	---	---
DHX34	9704	broad.mit.edu	37	19	47883158	47883160	+	In_Frame_Del	DEL	GGA	GGA	-	rs533574046|rs539350022	byFrequency	TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:47883158_47883160delGGA	ENST00000328771.4	+	14	3247_3249	c.2898_2900delGGA	c.(2896-2901)ctggag>ctg	p.E971del		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	971					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGCAGCAGCTGGAGGAGGAGGAG	0.66																																						ENST00000328771.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2896-2901)ctg>ct		DEAH (Asp-Glu-Ala-His) box polypeptide 34																																				SO:0001651	inframe_deletion	9704					intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding	g.chr19:47883158_47883160delGGA	D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2898_2900delGGA	19.37:g.47883167_47883169delGGA	ENSP00000331907:p.Glu971del						p.LE966del	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)	14	3247_3249	+		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)	966					B4DMY8	In_Frame_Del	DEL	ENST00000328771.4	37	c.2898_2900delGGA	CCDS12700.1																																																																																				0.660	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314313.3	NM_014681		7	162						7	162	---	---	---	---
ZNF160	90338	broad.mit.edu	37	19	53573085	53573085	+	Frame_Shift_Del	DEL	T	T	-			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr19:53573085delT	ENST00000429604.1	-	7	1117	c.702delA	c.(700-702)aaafs	p.K234fs	ZNF160_ENST00000418871.1_Frame_Shift_Del_p.K234fs|ZNF160_ENST00000599056.1_Frame_Shift_Del_p.K234fs|ZNF160_ENST00000601421.1_Frame_Shift_Del_p.K198fs	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	234					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GTTCATGATATTTTTTAGACC	0.368																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(592-594)aafs		zinc finger protein 160							142.0	141.0	141.0					19																	53573085		2203	4300	6503	SO:0001589	frameshift_variant	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53573085delT	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.702delA	19.37:g.53573085delT	ENSP00000406201:p.Lys234fs					ZNF160_ENST00000429604.1_Frame_Shift_Del_p.K234fs|ZNF160_ENST00000418871.1_Frame_Shift_Del_p.K234fs|ZNF160_ENST00000599056.1_Frame_Shift_Del_p.K234fs	p.K198fs			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1470	-			234					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Frame_Shift_Del	DEL	ENST00000429604.1	37	c.594delA	CCDS12859.1																																																																																				0.368	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		7	490						7	490	---	---	---	---
DSTN	11034	broad.mit.edu	37	20	17581488	17581489	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr20:17581488_17581489insT	ENST00000246069.7	+	2	455_456	c.109_110insT	c.(109-111)attfs	p.I37fs	DSTN_ENST00000474024.1_Frame_Shift_Ins_p.I20fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)	37	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				actin filament depolymerization (GO:0030042)|actin filament severing (GO:0051014)|actin polymerization or depolymerization (GO:0008154)|cellular component movement (GO:0006928)|positive regulation of actin filament depolymerization (GO:0030836)	actin cytoskeleton (GO:0015629)|cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						GAAGGCTGTCATTTTTTGTCTC	0.386																																						ENST00000246069.6																			0				endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						c.(109-111)tttfs		destrin (actin depolymerizing factor)																																				SO:0001589	frameshift_variant	11034				actin filament severing|actin polymerization or depolymerization		actin binding	g.chr20:17581488_17581489insT	S65738	CCDS13127.1, CCDS46580.1	20p12.1	2010-08-20			ENSG00000125868	ENSG00000125868			15750	protein-coding gene	gene with protein product		609114				8399167, 2156828	Standard	NM_006870		Approved	ADF, ACTDP	uc002wpr.3	P60981	OTTHUMG00000031947	ENST00000246069.7:c.115dupT	20.37:g.17581494_17581494dupT	ENSP00000246069:p.Ile37fs					DSTN_ENST00000474024.1_3'UTR|DSTN_ENST00000543261.1_Frame_Shift_Ins_p.F20fs	p.F37fs	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN			2	455_456	+			37			ADF-H.		B2R6N2|B4DYA6|P18282|Q5W166|Q6IAW2	Frame_Shift_Ins	INS	ENST00000246069.7	37	c.109_110insT	CCDS13127.1																																																																																				0.386	DSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078131.6	NM_001011546		9	408						9	408	---	---	---	---
BIK	638	broad.mit.edu	37	22	43525245	43525247	+	In_Frame_Del	DEL	GCT	GCT	-	rs542081559		TCGA-FB-AAPQ-01A-11D-A40W-08	TCGA-FB-AAPQ-11A-11D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	99ad1f02-6c55-4c69-863d-6b47298b0c43	29a5cf73-0904-450f-ac74-6b46dfb2e4f4	g.chr22:43525245_43525247delGCT	ENST00000216115.2	+	5	480_482	c.417_419delGCT	c.(415-420)gcgctg>gcg	p.L144del		NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN	BCL2-interacting killer (apoptosis-inducing)	144	Leucine-zipper. {ECO:0000255}.				apoptotic mitochondrial changes (GO:0008637)|apoptotic process (GO:0006915)|male gonad development (GO:0008584)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5		Ovarian(80;0.0694)				tgctgctggcgctgctgctgctg	0.724																																						ENST00000216115.2																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|urinary_tract(1)	5						c.(415-420)gcg>gc		BCL2-interacting killer (apoptosis-inducing)				9,134,3841		1,0,7,18,98,1868						-8.8	0.0			26	9,256,7523		1,0,7,46,164,3676	no	codingComplex	BIK	NM_001197.4		2,0,14,64,262,5544	A1A1,A1A2,A1R,A2A2,A2R,RR		3.4027,3.5894,3.4659				18,390,11364				SO:0001651	inframe_deletion	638				apoptosis|induction of apoptosis|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	endomembrane system|integral to membrane		g.chr22:43525245_43525247delGCT	U34584	CCDS14044.1	22q13.31	2014-03-07			ENSG00000100290	ENSG00000100290			1051	protein-coding gene	gene with protein product		603392				7478623, 10591208	Standard	NM_001197		Approved	NBK	uc003bdk.3	Q13323	OTTHUMG00000150703	ENST00000216115.2:c.417_419delGCT	22.37:g.43525254_43525256delGCT	ENSP00000216115:p.Leu144del						p.AL139del	NM_001197.4	NP_001188.1	Q13323	BIK_HUMAN			5	480_482	+		Ovarian(80;0.0694)	139			Leucine-zipper (Potential).		Q16582|Q6FH93	In_Frame_Del	DEL	ENST00000216115.2	37	c.417_419delGCT	CCDS14044.1																																																																																				0.724	BIK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319676.1	NM_001197		7	363						7	363	---	---	---	---
