#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
ZNF365	22891	broad.mit.edu	37	10	64136259	64136259	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:64136259A>T	ENST00000395254.3	+	2	587	c.307A>T	c.(307-309)Agc>Tgc	p.S103C	ZNF365_ENST00000395255.3_Missense_Mutation_p.S103C|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.S103C	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	62										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAACTTGTACAGCATTTCACA	0.498																																						ENST00000395254.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(307-309)Agc>Tgc		zinc finger protein 365							126.0	110.0	115.0					10																	64136259		2203	4300	6503	SO:0001583	missense	22891							g.chr10:64136259A>T	AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395254.3:c.307A>T	10.37:g.64136259A>T	ENSP00000378674:p.Ser103Cys					ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000410046.3_Missense_Mutation_p.S103C|ZNF365_ENST00000395255.3_Missense_Mutation_p.S103C	p.S103C	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN			2	587	+	Prostate(12;0.0297)|all_hematologic(501;0.228)		62						Missense_Mutation	SNP	ENST00000395254.3	37	c.307A>T	CCDS31209.1	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130161	0.56721	.	.	ENSG00000138311	ENST00000395254;ENST00000395255;ENST00000410046	T;T;T	0.35973	1.28;1.28;1.28	5.61	3.18	0.36537	.	0.272643	0.36740	N	0.002435	T	0.45418	0.1341	L	0.56769	1.78	0.24242	N	0.995357	D;D;D;D	0.76494	0.999;0.992;0.992;0.992	D;P;P;P	0.64595	0.927;0.794;0.724;0.794	T	0.33904	-0.9850	10	0.66056	D	0.02	-2.0655	2.9212	0.05770	0.536:0.2348:0.2292:0.0	.	103;103;103;118	Q70YC5-3;Q70YC5-2;Q70YC5;Q70YC5-4	.;.;ZN365_HUMAN;.	C	103	ENSP00000378674:S103C;ENSP00000378675:S103C;ENSP00000387091:S103C	ENSP00000378674:S103C	S	+	1	0	ZNF365	63806265	0.838000	0.29461	0.979000	0.43373	0.724000	0.41520	2.696000	0.47052	2.138000	0.66242	0.454000	0.30748	AGC		0.498	ZNF365-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048238.2	NM_014951		75	196	0	0	0	1	0	75	196				
BTN2A3P	54718	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs571530750	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:26422353C>T	ENST00000466808.2	+	0	7							Q96KV6	BT2A3_HUMAN	butyrophilin, subfamily 2, member A3, pseudogene							integral component of membrane (GO:0016021)		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622													C|||	7	0.00139776	0.0023	0.0	5008	,	,		16376	0.001		0.0	False		,,,				2504	0.0031					ENST00000466808.2																			2	Substitution - Missense(2)	p.P3S(2)	endometrium(1)|kidney(1)																																																0							g.chr6:26422353C>T	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.26422353C>T														0	7	+								A6NEF4	RNA	SNP	ENST00000466808.2	37																																																																																						0.622	BTN2A3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000040118.4	NR_027795		8	425	0	0	0	1	0	8	425				
ZNF500	26048	broad.mit.edu	37	16	4803036	4803036	+	Missense_Mutation	SNP	C	C	T	rs142409847		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:4803036C>T	ENST00000219478.6	-	6	1083	c.784G>A	c.(784-786)Ggc>Agc	p.G262S	ZNF500_ENST00000545009.1_Missense_Mutation_p.G262S|ZNF500_ENST00000591026.1_5'UTR|RP11-127I20.7_ENST00000588099.1_RNA			O60304	ZN500_HUMAN	zinc finger protein 500	262					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						CCATCACCGCCGTCCTCCAAC	0.587																																						ENST00000219478.6																			0				endometrium(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	21						c.(784-786)Ggc>Agc		zinc finger protein 500		C	SER/GLY	0,4382		0,0,2191	39.0	46.0	43.0		784	3.1	0.0	16	dbSNP_134	43	1,8583		0,1,4291	no	missense	ZNF500	NM_021646.1	56	0,1,6482	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	262/481	4803036	1,12965	2191	4292	6483	SO:0001583	missense	26048				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:4803036C>T	AB011129	CCDS32383.1	16p13.3	2013-01-09				ENSG00000103199		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23716	protein-coding gene	gene with protein product						9628581	Standard	XM_005255243		Approved	ZKSCAN18, KIAA0557, ZSCAN50	uc002cxp.1	O60304		ENST00000219478.6:c.784G>A	16.37:g.4803036C>T	ENSP00000219478:p.Gly262Ser					ZNF500_ENST00000591026.1_5'UTR|ZNF500_ENST00000545009.1_Missense_Mutation_p.G262S	p.G262S			O60304	ZN500_HUMAN			6	1083	-			262					A8K6X7|B4DNN9|Q0VAL2|Q96CQ8|Q9BTG0	Missense_Mutation	SNP	ENST00000219478.6	37	c.784G>A	CCDS32383.1	.	.	.	.	.	.	.	.	.	.	C	9.305	1.054035	0.19907	0.0	1.16E-4	ENSG00000103199	ENST00000545009;ENST00000219478	T;T	0.06294	3.41;3.32	4.04	3.08	0.35506	Krueppel-associated box (1);	.	.	.	.	T	0.03305	0.0096	N	0.14661	0.345	0.09310	N	1	B;B	0.33755	0.424;0.27	B;B	0.17098	0.017;0.017	T	0.45629	-0.9248	9	0.23891	T	0.37	.	9.1061	0.36698	0.0:0.8891:0.0:0.1109	.	262;262	B4DNN9;O60304	.;ZN500_HUMAN	S	262	ENSP00000445714:G262S;ENSP00000219478:G262S	ENSP00000219478:G262S	G	-	1	0	ZNF500	4743037	0.001000	0.12720	0.048000	0.18961	0.011000	0.07611	1.284000	0.33249	0.694000	0.31654	0.655000	0.94253	GGC		0.587	ZNF500-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432461.1	XM_085507		41	160	0	0	0	1	0	41	160				
SBNO1	55206	broad.mit.edu	37	12	123780517	123780517	+	Nonsense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:123780517G>A	ENST00000602398.1	-	32	4247	c.4120C>T	c.(4120-4122)Caa>Taa	p.Q1374*	SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q1373*|SBNO1_ENST00000420886.2_Nonsense_Mutation_p.Q1374*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q1373*			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1374					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TGTTTCTGTTGGACCGCAAGC	0.438																																						ENST00000420886.2																			0				NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(4120-4122)Caa>Taa		strawberry notch homolog 1 (Drosophila)							364.0	325.0	338.0					12																	123780517		2203	4300	6503	SO:0001587	stop_gained	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123780517G>A	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.4120C>T	12.37:g.123780517G>A	ENSP00000473665:p.Gln1374*					SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q1373*|SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q1373*|SBNO1_ENST00000602398.1_Nonsense_Mutation_p.Q1374*	p.Q1374*	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	31	4119	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1374					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Nonsense_Mutation	SNP	ENST00000602398.1	37	c.4120C>T	CCDS53844.1	.	.	.	.	.	.	.	.	.	.	G	42	9.178315	0.99091	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21540	T	0.41	-11.0209	20.5792	0.99380	0.0:0.0:1.0:0.0	.	.	.	.	X	1374;1373	.	ENSP00000267176:Q1373X	Q	-	1	0	SBNO1	122346470	1.000000	0.71417	0.930000	0.37139	0.978000	0.69477	9.431000	0.97494	2.873000	0.98535	0.561000	0.74099	CAA		0.438	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		6	736	0	0	0	1	0	6	736				
RSPH10B2	728194	broad.mit.edu	37	7	6797473	6797473	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:6797473G>A	ENST00000403107.1	+	2	552	c.165G>A	c.(163-165)gtG>gtA	p.V55V	RSPH10B2_ENST00000297186.3_Silent_p.V55V|RSPH10B2_ENST00000404077.1_Silent_p.V55V|RSPH10B2_ENST00000433859.2_Silent_p.V55V|RSPH10B2_ENST00000359718.3_5'UTR			B2RC85	R10B2_HUMAN	radial spoke head 10 homolog B2 (Chlamydomonas)	55										breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						TCAACGAAGTGAAACCCAAAA	0.453																																						ENST00000403107.1																			0				breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|skin(2)	15						c.(163-165)gtG>gtA		radial spoke head 10 homolog B2 (Chlamydomonas)							58.0	69.0	66.0					7																	6797473		2162	4263	6425	SO:0001819	synonymous_variant	728194							g.chr7:6797473G>A		CCDS43552.1	7p22.1	2008-07-04			ENSG00000169402	ENSG00000169402			34385	protein-coding gene	gene with protein product							Standard	NM_001099697		Approved		uc003sqw.1	B2RC85	OTTHUMG00000151856	ENST00000403107.1:c.165G>A	7.37:g.6797473G>A						RSPH10B2_ENST00000297186.3_Silent_p.V55V|RSPH10B2_ENST00000359718.3_5'UTR|RSPH10B2_ENST00000433859.2_Silent_p.V55V|RSPH10B2_ENST00000404077.1_Silent_p.V55V	p.V55V							2	552	+								A6NMW7|B2RXI4|B2RXJ0|Q86ST9|Q8NE68	Silent	SNP	ENST00000403107.1	37	c.165G>A	CCDS43552.1																																																																																				0.453	RSPH10B2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324184.4	NM_001099697		6	631	0	0	0	1	0	6	631				
KIF1A	547	broad.mit.edu	37	2	241713624	241713624	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:241713624T>C	ENST00000320389.7	-	12	1171	c.1013A>G	c.(1012-1014)tAc>tGc	p.Y338C	KIF1A_ENST00000498729.2_Missense_Mutation_p.Y338C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	338	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGTCTCATCGTAGTTGATGTC	0.572																																						ENST00000498729.2																			0				NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66						c.(1012-1014)tAc>tGc		kinesin family member 1A							76.0	83.0	81.0					2																	241713624		2159	4257	6416	SO:0001583	missense	547				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity	g.chr2:241713624T>C	AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.1013A>G	2.37:g.241713624T>C	ENSP00000322791:p.Tyr338Cys					KIF1A_ENST00000320389.7_Missense_Mutation_p.Y338C	p.Y338C	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)	12	1259	-		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)	338			Kinesin-motor.		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	ENST00000320389.7	37	c.1013A>G	CCDS46561.1	.	.	.	.	.	.	.	.	.	.	T	17.53	3.413213	0.62511	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308;ENST00000404283	T;T;T	0.76186	-1.0;-1.0;-1.0	4.33	4.33	0.51752	Kinesin, motor domain (3);	0.000000	0.85682	U	0.000000	D	0.87406	0.6169	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;0.998;1.0	D	0.89725	0.3922	10	0.87932	D	0	.	13.1872	0.59688	0.0:0.0:0.0:1.0	.	338;338;338	F5H045;Q12756-2;Q12756	.;.;KIF1A_HUMAN	C	338	ENSP00000322791:Y338C;ENSP00000438388:Y338C;ENSP00000384231:Y338C	ENSP00000322791:Y338C	Y	-	2	0	KIF1A	241362297	1.000000	0.71417	0.952000	0.39060	0.601000	0.36947	7.764000	0.85297	1.593000	0.50029	0.374000	0.22700	TAC		0.572	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324536.3	NM_138483		52	136	0	0	0	1	0	52	136				
LMF2	91289	broad.mit.edu	37	22	50941833	50941833	+	Missense_Mutation	SNP	C	C	T	rs144342127		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:50941833C>T	ENST00000474879.2	-	14	2126	c.2111G>A	c.(2110-2112)cGg>cAg	p.R704Q	LMF2_ENST00000216080.5_Missense_Mutation_p.R679Q|LMF2_ENST00000505981.1_5'Flank|LMF2_ENST00000380796.3_Missense_Mutation_p.R591Q	NM_033200.2	NP_149977.2	Q9BU23	LMF2_HUMAN	lipase maturation factor 2	704						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTTCTTTCGCCGGGTGGTCCT	0.672													c|||	1	0.000199681	0.0	0.0	5008	,	,		13642	0.0		0.001	False		,,,				2504	0.0					ENST00000216080.5																			0				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10						c.(2035-2037)cGg>cAg		lipase maturation factor 2		C	GLN/ARG	1,4313		0,1,2156	28.0	26.0	27.0		2111	5.1	1.0	22	dbSNP_134	27	0,8452		0,0,4226	no	missense	LMF2	NM_033200.2	43	0,1,6382	TT,TC,CC		0.0,0.0232,0.0078	probably-damaging	704/708	50941833	1,12765	2157	4226	6383	SO:0001583	missense	91289					endoplasmic reticulum membrane|integral to membrane		g.chr22:50941833C>T	BC002942	CCDS14093.1, CCDS14093.2	22q13.33	2008-02-04	2007-11-29	2007-11-29	ENSG00000100258	ENSG00000100258			25096	protein-coding gene	gene with protein product			"""transmembrane protein 153"", ""transmembrane protein 112B"""	TMEM153, TMEM112B		12477932	Standard	NM_033200		Approved		uc003blp.2	Q9BU23	OTTHUMG00000150206	ENST00000474879.2:c.2111G>A	22.37:g.50941833C>T	ENSP00000424381:p.Arg704Gln					LMF2_ENST00000380796.3_Missense_Mutation_p.R591Q|LMF2_ENST00000474879.2_Missense_Mutation_p.R704Q	p.R679Q			Q9BU23	LMF2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	14	2204	-		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)	704					A6NEZ0|Q13392|Q6ZNR2|Q8WU74|Q96C62	Missense_Mutation	SNP	ENST00000474879.2	37	c.2036G>A	CCDS14093.2	.	.	.	.	.	.	.	.	.	.	C	18.08	3.543489	0.65198	2.32E-4	0.0	ENSG00000100258	ENST00000380796;ENST00000474879;ENST00000216080	T;T;T	0.41758	0.99;1.65;1.64	5.14	5.14	0.70334	.	0.512980	0.18854	N	0.129333	T	0.61048	0.2316	M	0.71581	2.175	0.23356	N	0.997846	D;D	0.76494	0.999;0.999	P;P	0.62649	0.806;0.905	T	0.55995	-0.8052	10	0.62326	D	0.03	-0.3442	14.4462	0.67352	0.0:1.0:0.0:0.0	.	704;679	Q9BU23;Q9BU23-2	LMF2_HUMAN;.	Q	591;704;679	ENSP00000370173:R591Q;ENSP00000424381:R704Q;ENSP00000216080:R679Q	ENSP00000216080:R679Q	R	-	2	0	LMF2	49288699	0.435000	0.25577	0.972000	0.41901	0.066000	0.16364	1.010000	0.29898	2.549000	0.85964	0.491000	0.48974	CGG		0.672	LMF2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316833.2	NM_033200		40	112	0	0	0	1	0	40	112				
PRPF39	55015	broad.mit.edu	37	14	45578898	45578898	+	Missense_Mutation	SNP	T	T	C	rs377585844		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:45578898T>C	ENST00000355765.6	+	8	1261	c.1091T>C	c.(1090-1092)aTt>aCt	p.I364T	SNORD127_ENST00000458892.1_RNA	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	364					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						GAATTTGAAATTGAAAATGGG	0.333																																						ENST00000355765.6																			0				breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						c.(1090-1092)aTt>aCt		pre-mRNA processing factor 39		T	THR/ILE	1,4403	2.1+/-5.4	0,1,2201	65.0	61.0	62.0		1091	5.7	1.0	14		62	0,8598		0,0,4299	no	missense	PRPF39	NM_017922.3	89	0,1,6500	CC,CT,TT		0.0,0.0227,0.0077	benign	364/670	45578898	1,13001	2202	4299	6501	SO:0001583	missense	55015				mRNA processing|RNA splicing	nucleus	binding	g.chr14:45578898T>C	AK000673	CCDS9682.2	14q21.1	2013-10-03	2013-10-03		ENSG00000185246	ENSG00000185246			20314	protein-coding gene	gene with protein product		614907	"""PRP39 pre-mRNA processing factor 39 homolog (yeast)"", ""PRP39 pre-mRNA processing factor 39 homolog (S. cerevisiae)"""				Standard	NM_017922		Approved	FLJ20666, FLJ11128	uc001wvz.4	Q86UA1	OTTHUMG00000140265	ENST00000355765.6:c.1091T>C	14.37:g.45578898T>C	ENSP00000348010:p.Ile364Thr						p.I364T	NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN			8	1261	+			364					Q08AL1|Q08AL2|Q9NUU5	Missense_Mutation	SNP	ENST00000355765.6	37	c.1091T>C	CCDS9682.2	.	.	.	.	.	.	.	.	.	.	T	15.07	2.725036	0.48833	2.27E-4	0.0	ENSG00000185246	ENST00000355765	T	0.34072	1.38	5.72	5.72	0.89469	.	0.099811	0.64402	D	0.000003	T	0.44222	0.1283	M	0.61703	1.905	0.80722	D	1	P	0.38129	0.619	P	0.46299	0.511	T	0.24870	-1.0148	10	0.14252	T	0.57	-0.4776	14.8233	0.70091	0.0:0.0:0.0:1.0	.	364	Q86UA1	PRP39_HUMAN	T	364	ENSP00000348010:I364T	ENSP00000348010:I364T	I	+	2	0	PRPF39	44648648	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.845000	0.86875	2.184000	0.69523	0.383000	0.25322	ATT		0.333	PRPF39-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319683.2			13	67	0	0	0	1	0	13	67				
PITPNM1	9600	broad.mit.edu	37	11	67262964	67262964	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:67262964G>A	ENST00000534749.1	-	15	2615	c.2427C>T	c.(2425-2427)gcC>gcT	p.A809A	PITPNM1_ENST00000356404.3_Silent_p.A809A|PITPNM1_ENST00000526450.1_5'Flank|PITPNM1_ENST00000436757.2_Silent_p.A808A			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	809	DDHD. {ECO:0000255|PROSITE- ProRule:PRU00378}.				brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GGGGGTCAGTGGCCAACTCAC	0.647																																					GBM(28;144 709 4607 5525)	ENST00000356404.3																			0				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						c.(2425-2427)gcC>gcT		phosphatidylinositol transfer protein, membrane-associated 1							20.0	17.0	18.0					11																	67262964		2188	4284	6472	SO:0001819	synonymous_variant	9600				brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity	g.chr11:67262964G>A	X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.2427C>T	11.37:g.67262964G>A						PITPNM1_ENST00000436757.2_Silent_p.A808A|PITPNM1_ENST00000534749.1_Silent_p.A809A	p.A809A	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN			16	2652	-			809			DDHD.		A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	c.2427C>T	CCDS31620.1																																																																																				0.647	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910		9	27	0	0	0	1	0	9	27				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					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.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		6	221	0	0	0	1	0	6	221				
MN1	4330	broad.mit.edu	37	22	28194945	28194945	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194945C>T	ENST00000302326.4	-	1	2541	c.1587G>A	c.(1585-1587)caG>caA	p.Q529Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	529	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgctgctgctgct	0.647			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1585-1587)caG>caA		meningioma (disrupted in balanced translocation) 1							3.0	5.0	4.0					22																	28194945		1291	2827	4118	SO:0001819	synonymous_variant	4330						binding	g.chr22:28194945C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1587G>A	22.37:g.28194945C>T							p.Q529Q	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2541	-			529			Poly-Gln.		A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.1587G>A	CCDS42998.1																																																																																				0.647	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		14	18	0	0	0	1	0	14	18				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	12	213	0	0	0	1	0	12	213				
PKD1L1	168507	broad.mit.edu	37	7	47970835	47970835	+	Silent	SNP	C	C	T	rs141425680		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:47970835C>T	ENST00000289672.2	-	6	653	c.603G>A	c.(601-603)gcG>gcA	p.A201A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	201					detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCACATCCTCCGCACAGCACA	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18733	0.0		0.0	False		,,,				2504	0.0					ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(601-603)gcG>gcA		polycystic kidney disease 1 like 1		C		1,4405	2.1+/-5.4	0,1,2202	67.0	68.0	68.0		603	0.9	0.0	7	dbSNP_134	68	0,8600		0,0,4300	no	coding-synonymous	PKD1L1	NM_138295.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		201/2850	47970835	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	168507				cell-cell adhesion	integral to membrane		g.chr7:47970835C>T	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.603G>A	7.37:g.47970835C>T							p.A201A	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			6	653	-			201					Q6UWK1	Silent	SNP	ENST00000289672.2	37	c.603G>A	CCDS34633.1																																																																																				0.607	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		46	264	0	0	0	1	0	46	264				
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H|DCP1B_ENST00000541700.1_5'UTR	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					ENST00000280665.6																			8	Substitution - Missense(8)	p.Q252H(8)	endometrium(5)|lung(2)|large_intestine(1)	NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(754-756)caG>caC		decapping mRNA 1B							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	p.Q252H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	835	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		5	159	0	0	0	1	0	5	159				
EIF4ENIF1	56478	broad.mit.edu	37	22	31837984	31837984	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:31837984C>T	ENST00000397525.1	-	17	2550	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R602H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R776H|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R431H|EIF4ENIF1_ENST00000441289.1_5'Flank|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R752H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	776						cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTTGGTGTAACGGTTGGCCTG	0.507																																						ENST00000397525.1																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(2326-2328)cGt>cAt		eukaryotic translation initiation factor 4E nuclear import factor 1							261.0	250.0	253.0					22																	31837984		2203	4300	6503	SO:0001583	missense	56478					nucleus	protein binding|protein transporter activity	g.chr22:31837984C>T	AF240775	CCDS13898.1, CCDS54520.1	22q11.2	2007-01-16			ENSG00000184708	ENSG00000184708			16687	protein-coding gene	gene with protein product		607445				10856257	Standard	NM_019843		Approved	4E-T, FLJ21601, Clast4, 2610509L04Rik	uc003akz.2	Q9NRA8	OTTHUMG00000030793	ENST00000397525.1:c.2327G>A	22.37:g.31837984C>T	ENSP00000380659:p.Arg776His					EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.R431H|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.R602H|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.R776H|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.R752H	p.R776H	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN			17	2550	-			776					B1AKL2|B1AKL3|B2RBF1|Q8NCF2|Q9H708	Missense_Mutation	SNP	ENST00000397525.1	37	c.2327G>A	CCDS13898.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419760	0.83559	.	.	ENSG00000184708	ENST00000344710;ENST00000397525;ENST00000330125;ENST00000397523;ENST00000382180	.	.	.	6.17	6.17	0.99709	.	0.276957	0.42053	D	0.000777	T	0.77942	0.4206	M	0.61703	1.905	0.58432	D	0.999995	D;D;D;D	0.89917	0.988;1.0;0.975;0.999	P;D;P;D	0.78314	0.483;0.991;0.482;0.948	T	0.72871	-0.4161	9	0.35671	T	0.21	-4.8798	19.8676	0.96824	0.0:1.0:0.0:0.0	.	602;776;601;752	B1AKL3;Q9NRA8;Q9NRA8-2;B1AKL4	.;4ET_HUMAN;.;.	H	602;776;776;752;431	.	ENSP00000328103:R776H	R	-	2	0	EIF4ENIF1	30167984	1.000000	0.71417	1.000000	0.80357	0.792000	0.44763	4.410000	0.59774	2.941000	0.99782	0.655000	0.94253	CGT		0.507	EIF4ENIF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127926.1	NM_019843		224	206	0	0	0	1	0	224	206				
HMGN2P46	283651	broad.mit.edu	37	15	45848224	45848224	+	lincRNA	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:45848224G>T	ENST00000557965.1	+	0	0				HMGN2P46_ENST00000409454.1_RNA																							TGCAGATTTTGTTTAGCTTTT	0.318																																						ENST00000409454.1																			0																																																			0							g.chr15:45848224G>T																													15.37:g.45848224G>T														0	1219	+									RNA	SNP	ENST00000557965.1	37																																																																																						0.318	RP11-96O20.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000416553.1			10	73	1	0	1.58986e-06	1	1.64171e-06	10	73				
TENM4	26011	broad.mit.edu	37	11	78440582	78440582	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:78440582G>A	ENST00000278550.7	-	22	3707	c.3245C>T	c.(3244-3246)cCg>cTg	p.P1082L		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	1082					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GGGGATGGTCGGGTGGGTGAG	0.577																																						ENST00000278550.7																			0											c.(3244-3246)cCg>cTg		teneurin transmembrane protein 4							60.0	67.0	65.0					11																	78440582		1991	4158	6149	SO:0001583	missense	26011							g.chr11:78440582G>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.3245C>T	11.37:g.78440582G>A	ENSP00000278550:p.Pro1082Leu						p.P1082L	NM_001098816.2	NP_001092286.2					22	3707	-								A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.3245C>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	18.07	3.542110	0.65198	.	.	ENSG00000149256	ENST00000278550	D	0.89552	-2.53	4.73	3.81	0.43845	.	0.060449	0.64402	D	0.000002	T	0.78336	0.4267	N	0.24115	0.695	0.58432	D	0.999991	P	0.49358	0.923	B	0.33521	0.165	T	0.77335	-0.2626	9	.	.	.	.	15.1288	0.72503	0.0:0.1419:0.8581:0.0	.	1082	Q6N022	TEN4_HUMAN	L	1082	ENSP00000278550:P1082L	.	P	-	2	0	ODZ4	78118230	1.000000	0.71417	0.997000	0.53966	0.979000	0.70002	6.477000	0.73591	1.196000	0.43129	0.491000	0.48974	CCG		0.577	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2			39	147	0	0	0	1	0	39	147				
SALL2	6297	broad.mit.edu	37	14	21991588	21991588	+	Silent	SNP	C	C	T	rs200356033	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:21991588C>T	ENST00000327430.3	-	2	2568	c.2274G>A	c.(2272-2274)ccG>ccA	p.P758P	SALL2_ENST00000317492.5_Intron|AE000658.22_ENST00000535893.1_RNA|SALL2_ENST00000450879.2_Silent_p.P621P|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	758					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		ACTCCTCTTCCGGTGATGGCT	0.577													C|||	2	0.000399361	0.0	0.0029	5008	,	,		19925	0.0		0.0	False		,,,				2504	0.0					ENST00000327430.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43						c.(2272-2274)ccG>ccA		spalt-like transcription factor 2		C		0,4406		0,0,2203	51.0	50.0	50.0		2274	-4.5	0.2	14		50	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SALL2	NM_005407.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		758/1008	21991588	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6297						DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr14:21991588C>T	AB002358	CCDS32045.1	14q11.1-q12.1	2013-10-17	2013-10-17		ENSG00000165821	ENSG00000165821		"""Zinc fingers, C2H2-type"""	10526	protein-coding gene	gene with protein product		602219	"""sal (Drosophila)-like 2"", ""sal-like 2 (Drosophila)"""			8975705	Standard	XM_005267983		Approved	KIAA0360, Hsal2, ZNF795	uc001wbe.3	Q9Y467	OTTHUMG00000168826	ENST00000327430.3:c.2274G>A	14.37:g.21991588C>T						SALL2_ENST00000538754.1_Intron|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000450879.2_Silent_p.P621P	p.P758P	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN		GBM - Glioblastoma multiforme(265;0.0151)	2	2568	-	all_cancers(95;0.000662)		758					B2RMX6|B9EGK8|Q8N656|Q9Y4G1	Silent	SNP	ENST00000327430.3	37	c.2274G>A	CCDS32045.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	5.549	0.286213	0.10513	0.0	1.16E-4	ENSG00000165821	ENST00000546363	.	.	.	4.76	-4.5	0.03493	.	.	.	.	.	T	0.30198	0.0757	.	.	.	0.33671	D	0.61096	.	.	.	.	.	.	T	0.38023	-0.9680	4	.	.	.	-4.7548	2.0412	0.03550	0.1233:0.2335:0.3794:0.2638	.	.	.	.	Q	617	.	.	R	-	2	0	SALL2	21061428	0.000000	0.05858	0.236000	0.24074	0.786000	0.44442	-1.953000	0.01526	-1.030000	0.03312	-1.264000	0.01445	CGG		0.577	SALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401242.1	NM_005407		33	162	0	0	0	1	0	33	162				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	ENST00000420246.2	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	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"""		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)cGt>cAt	Other conserved DNA damage response genes	tumor protein p53							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	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.chr17:7577120C>T	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.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	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_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	p.R273H	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	950	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|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	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		53	57	0	0	0	1	0	53	57				
NUP210	23225	broad.mit.edu	37	3	13360637	13360637	+	Missense_Mutation	SNP	G	G	A	rs184792881	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:13360637G>A	ENST00000254508.5	-	39	5580	c.5498C>T	c.(5497-5499)aCg>aTg	p.T1833M		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1833					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					ATCCCGGGGCGTGCAGACAGT	0.637													G|||	3	0.000599042	0.0	0.0	5008	,	,		18218	0.003		0.0	False		,,,				2504	0.0					ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(5497-5499)aCg>aTg		nucleoporin 210kDa							73.0	73.0	73.0					3																	13360637		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13360637G>A	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.5498C>T	3.37:g.13360637G>A	ENSP00000254508:p.Thr1833Met						p.T1833M	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			39	5580	-	all_neural(104;0.187)		1833					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.5498C>T	CCDS33704.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	15.41	2.826752	0.50739	.	.	ENSG00000132182	ENST00000254508	T	0.05081	3.5	5.45	4.56	0.56223	.	1.369470	0.04485	N	0.378425	T	0.10078	0.0247	N	0.22421	0.69	0.09310	N	1	D	0.59767	0.986	P	0.47528	0.549	T	0.50591	-0.8810	10	0.46703	T	0.11	-0.0018	14.191	0.65637	0.0:0.1496:0.8504:0.0	.	1833	Q8TEM1	PO210_HUMAN	M	1833	ENSP00000254508:T1833M	ENSP00000254508:T1833M	T	-	2	0	NUP210	13335637	0.493000	0.26035	0.003000	0.11579	0.045000	0.14185	4.575000	0.60908	1.288000	0.44600	0.561000	0.74099	ACG		0.637	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		19	72	0	0	0	1	0	19	72				
ZNF702P	79986	broad.mit.edu	37	19	53473141	53473141	+	RNA	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:53473141A>G	ENST00000600068.1	-	0	489				ZNF702P_ENST00000270443.4_RNA																							GTGAATTACAATATGTTGTGC	0.393																																						ENST00000600068.1																			0																				136.0	123.0	127.0					19																	53473141		876	1991	2867			0							g.chr19:53473141A>G																													19.37:g.53473141A>G						ZNF702P_ENST00000270443.4_RNA								0	489	-									RNA	SNP	ENST00000600068.1	37																																																																																						0.393	CTD-2620I22.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000463881.1			5	512	0	0	0	1	0	5	512				
FSHR	2492	broad.mit.edu	37	2	49190190	49190190	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:49190190G>T	ENST00000406846.2	-	10	1889	c.1770C>A	c.(1768-1770)ttC>ttA	p.F590L	FSHR_ENST00000346173.3_Missense_Mutation_p.F528L|FSHR_ENST00000304421.4_Missense_Mutation_p.F564L|FSHR_ENST00000541117.1_Missense_Mutation_p.F326L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	590					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.F590L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	AAATGGCAAAGAAAGAAATGG	0.532									Gonadal Dysgenesis, 46 XX																													ENST00000406846.2																			1	Substitution - Missense(1)	p.F590L(1)	large_intestine(1)	NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1768-1770)ttC>ttA		follicle stimulating hormone receptor	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						61.0	60.0	60.0					2																	49190190		2203	4300	6503	SO:0001583	missense	0	Gonadal Dysgenesis, 46 XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49190190G>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.1770C>A	2.37:g.49190190G>T	ENSP00000384708:p.Phe590Leu					FSHR_ENST00000304421.4_Missense_Mutation_p.F564L|FSHR_ENST00000541117.1_Missense_Mutation_p.F326L|FSHR_ENST00000346173.3_Missense_Mutation_p.F528L	p.F590L	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		10	1889	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	590					A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.1770C>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	G	12.17	1.857498	0.32791	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000541117	T;T;T;T	0.70045	-0.45;-0.45;-0.45;-0.45	5.35	4.47	0.54385	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.57725	0.2073	L	0.53561	1.675	0.80722	D	1	B;B;B	0.11235	0.004;0.002;0.003	B;B;B	0.15870	0.014;0.008;0.014	T	0.53429	-0.8440	9	.	.	.	.	8.786	0.34821	0.231:0.0:0.769:0.0	.	564;528;590	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	L	590;528;564;326	ENSP00000384708:F590L;ENSP00000333908:F528L;ENSP00000306780:F564L;ENSP00000444172:F326L	.	F	-	3	2	FSHR	49043694	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.409000	0.44583	1.620000	0.50308	0.655000	0.94253	TTC		0.532	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			33	103	1	0	1.30897e-18	1	1.36651e-18	33	103				
TXNDC2	84203	broad.mit.edu	37	18	9886894	9886894	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr18:9886894A>G	ENST00000306084.6	+	2	617	c.418A>G	c.(418-420)Aaa>Gaa	p.K140E	TXNDC2_ENST00000357775.5_Missense_Mutation_p.K73E|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	140	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)	p.K140E(2)|p.K73E(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAAAAGCCATCCA	0.547																																						ENST00000306084.6																			4	Substitution - Missense(4)	p.K140E(2)|p.K73E(2)	urinary_tract(2)|lung(2)	NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(418-420)Aaa>Gaa		thioredoxin domain containing 2 (spermatozoa)							133.0	131.0	132.0					18																	9886894		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9886894A>G	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.418A>G	18.37:g.9886894A>G	ENSP00000304908:p.Lys140Glu					TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000584255.1_3'UTR|TXNDC2_ENST00000357775.4_Missense_Mutation_p.K73E|TXNDC2_ENST00000536353.2_Missense_Mutation_p.K73E	p.K140E	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	617	+			140			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.418A>G	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	a	8.625	0.892206	0.17613	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.20069	2.1;2.3;2.3	3.48	-6.96	0.01622	.	1.199930	0.06365	N	0.712409	T	0.12774	0.0310	L	0.35854	1.095	0.09310	N	1	B	0.25048	0.117	B	0.25884	0.064	T	0.32693	-0.9897	9	.	.	.	.	5.8007	0.18412	0.5013:0.2415:0.2572:0.0	.	140	Q86VQ3	TXND2_HUMAN	E	73;73;140;140	ENSP00000437393:K73E;ENSP00000350419:K73E;ENSP00000304908:K140E	.	K	+	1	0	TXNDC2	9876894	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.892000	0.04131	-1.042000	0.03262	-1.380000	0.01176	AAA		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			7	548	0	0	0	1	0	7	548				
NTNG2	84628	broad.mit.edu	37	9	135114577	135114577	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:135114577C>T	ENST00000393229.3	+	6	1917	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*	NTNG2_ENST00000393228.4_Nonsense_Mutation_p.R373*|NTNG2_ENST00000360670.3_Nonsense_Mutation_p.R387*	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	381	Laminin EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axonogenesis (GO:0007409)	anchored component of plasma membrane (GO:0046658)|axon (GO:0030424)				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		GCACAACACGCGAGGTCAGCA	0.607																																						ENST00000393229.3																			0				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(1141-1143)Cga>Tga		netrin G2							86.0	67.0	74.0					9																	135114577		2203	4300	6503	SO:0001587	stop_gained	84628				axonogenesis	anchored to plasma membrane		g.chr9:135114577C>T	AB058760	CCDS6946.1	9q34	2013-03-01	2003-12-02	2003-12-03	ENSG00000196358	ENSG00000196358		"""Netrins"""	14288	protein-coding gene	gene with protein product	"""Netrin-G2"""		"""netrin G1"""	NTNG1			Standard	NM_032536		Approved	KIAA1857, Lmnt2	uc004cbh.2	Q96CW9	OTTHUMG00000020835	ENST00000393229.3:c.1141C>T	9.37:g.135114577C>T	ENSP00000376921:p.Arg381*					NTNG2_ENST00000360670.3_Nonsense_Mutation_p.R387*|NTNG2_ENST00000393228.4_Nonsense_Mutation_p.R373*	p.R381*	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)	6	1917	+			381			Laminin EGF-like 2.		Q5JUJ2|Q6UXY0|Q96JH0	Nonsense_Mutation	SNP	ENST00000393229.3	37	c.1141C>T	CCDS6946.1	.	.	.	.	.	.	.	.	.	.	C	42	9.475566	0.99181	.	.	ENSG00000196358	ENST00000393229;ENST00000393228;ENST00000360670	.	.	.	4.94	3.05	0.35203	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10902	T	0.67	.	12.9469	0.58376	0.2951:0.7048:0.0:0.0	.	.	.	.	X	381;373;387	.	ENSP00000353888:R387X	R	+	1	2	NTNG2	134104398	0.026000	0.19158	0.331000	0.25455	0.354000	0.29330	0.378000	0.20569	0.471000	0.27319	-0.310000	0.09108	CGA		0.607	NTNG2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054779.1	NM_032536		83	169	0	0	0	1	0	83	169				
OR4S2	219431	broad.mit.edu	37	11	55418398	55418398	+	Missense_Mutation	SNP	G	G	A	rs145635951	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:55418398G>A	ENST00000312422.2	+	1	19	c.19G>A	c.(19-21)Gta>Ata	p.V7I		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AATAAACAACGTAACTGAATT	0.313													g|||	44	0.00878594	0.0	0.0	5008	,	,		14384	0.0		0.007	False		,,,				2504	0.0378					ENST00000312422.2																			0				endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(19-21)Gta>Ata		olfactory receptor, family 4, subfamily S, member 2		G	ILE/VAL	2,4350		0,2,2174	54.0	50.0	51.0		19	1.0	0.7	11	dbSNP_134	51	25,7979		5,15,3982	yes	missense	OR4S2	NM_001004059.2	29	5,17,6156	AA,AG,GG		0.3123,0.046,0.2185	benign	7/312	55418398	27,12329	2176	4002	6178	SO:0001583	missense	219431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55418398G>A	BK004390	CCDS31505.1	11q11	2012-08-09	2002-11-13	2002-11-15	ENSG00000174982	ENSG00000174982		"""GPCR / Class A : Olfactory receptors"""	15183	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily S, member 2 pseudogene"""	OR4S2P			Standard	NM_001004059		Approved	OST725	uc001nhs.1	Q8NH73	OTTHUMG00000166799	ENST00000312422.2:c.19G>A	11.37:g.55418398G>A	ENSP00000310337:p.Val7Ile						p.V7I	NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN			1	19	+		all_epithelial(135;0.0748)	7					Q6IF72	Missense_Mutation	SNP	ENST00000312422.2	37	c.19G>A	CCDS31505.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	7.327	0.618153	0.14129	4.6E-4	0.003123	ENSG00000174982	ENST00000312422	T	0.00672	5.89	5.05	1.02	0.19986	.	0.141107	0.32015	N	0.006710	T	0.00754	0.0025	L	0.45228	1.405	0.09310	N	1	B	0.28850	0.225	B	0.16722	0.016	T	0.49234	-0.8961	10	0.48119	T	0.1	.	7.0124	0.24869	0.513:0.0:0.487:0.0	.	7	Q8NH73	OR4S2_HUMAN	I	7	ENSP00000310337:V7I	ENSP00000310337:V7I	V	+	1	0	OR4S2	55174974	0.000000	0.05858	0.696000	0.30242	0.445000	0.32107	-0.700000	0.05081	0.530000	0.28619	0.448000	0.29417	GTA		0.313	OR4S2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391503.1	NM_001004059		69	274	0	0	0	1	0	69	274				
KCNG3	170850	broad.mit.edu	37	2	42671164	42671164	+	Missense_Mutation	SNP	A	A	T	rs373276662		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:42671164A>T	ENST00000306078.1	-	2	1816	c.1221T>A	c.(1219-1221)ttT>ttA	p.F407L	KCNG3_ENST00000394973.4_Missense_Mutation_p.F396L	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	407					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						TATGGTAGATAAAAGTGATAG	0.398																																						ENST00000306078.1																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						c.(1219-1221)ttT>ttA		potassium voltage-gated channel, subfamily G, member 3							128.0	126.0	127.0					2																	42671164		2203	4300	6503	SO:0001583	missense	170850					endoplasmic reticulum|voltage-gated potassium channel complex	protein binding	g.chr2:42671164A>T	AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.1221T>A	2.37:g.42671164A>T	ENSP00000304127:p.Phe407Leu					KCNG3_ENST00000394973.4_Missense_Mutation_p.F396L	p.F407L	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN			2	1816	-			407					Q53SC1	Missense_Mutation	SNP	ENST00000306078.1	37	c.1221T>A	CCDS1809.1	.	.	.	.	.	.	.	.	.	.	A	12.45	1.943128	0.34283	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	D;D	0.98207	-4.79;-4.79	5.2	-0.932	0.10435	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.96734	0.8934	N	0.11698	0.16	0.47065	D	0.999303	D;D	0.63046	0.992;0.974	D;D	0.76071	0.987;0.969	D	0.94389	0.7612	10	0.66056	D	0.02	.	12.9539	0.58416	0.3285:0.0:0.6715:0.0	.	407;396	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	L	407;396	ENSP00000304127:F407L;ENSP00000378424:F396L	ENSP00000304127:F407L	F	-	3	2	KCNG3	42524668	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	1.574000	0.36482	-0.176000	0.10707	-0.400000	0.06385	TTT		0.398	KCNG3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000250464.2	NM_172344		133	283	0	0	0	1	0	133	283				
ZNF99	7652	broad.mit.edu	37	19	22940908	22940908	+	Silent	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:22940908A>G	ENST00000596209.1	-	4	1893	c.1803T>C	c.(1801-1803)gcT>gcC	p.A601A	ZNF99_ENST00000397104.3_Silent_p.A510A	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	601					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGTGGTTAAAAGCTTTGCCAC	0.378																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1528-1530)gcT>gcC		zinc finger protein 99							42.0	47.0	45.0					19																	22940908		2045	4238	6283	SO:0001819	synonymous_variant	7652							g.chr19:22940908A>G	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1803T>C	19.37:g.22940908A>G						ZNF99_ENST00000596209.1_Silent_p.A601A	p.A510A							5	1529	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Silent	SNP	ENST00000596209.1	37	c.1530T>C	CCDS59369.1																																																																																				0.378	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		74	174	0	0	0	1	0	74	174				
SLC35G3	146861	broad.mit.edu	37	17	33520358	33520358	+	Silent	SNP	A	A	G	rs74740601		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:33520358A>G	ENST00000297307.5	-	1	1054	c.969T>C	c.(967-969)atT>atC	p.I323I	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	323	EamA 2.					integral component of membrane (GO:0016021)		p.I323I(1)									TCTGGGCTGTAATGATGGCAA	0.547																																						ENST00000297307.5																			1	Substitution - coding silent(1)	p.I323I(1)	lung(1)								c.(967-969)atT>atC		solute carrier family 35, member G3																																				SO:0001819	synonymous_variant	146861					integral to membrane		g.chr17:33520358A>G	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.969T>C	17.37:g.33520358A>G							p.I323I	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1054	-			323			DUF6 2.		B9EGE9	Silent	SNP	ENST00000297307.5	37	c.969T>C	CCDS11293.1																																																																																				0.547	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	282	0	0	0	1	0	5	282				
HIST1H2BO	8348	broad.mit.edu	37	6	27861401	27861401	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:27861401G>A	ENST00000303806.4	+	1	199	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3J_ENST00000479986.1_5'Flank|HIST1H3J_ENST00000359303.2_5'Flank|HIST1H2AM_ENST00000359611.2_5'Flank	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN	histone cluster 1, H2bo	54					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)										CCCGACACCGGCATCTCATCG	0.557																																						ENST00000303806.4																			0											c.(160-162)gGc>gAc		histone cluster 1, H2bo							161.0	145.0	151.0					6																	27861401		2203	4300	6503	SO:0001583	missense	8348				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27861401G>A	X57138	CCDS4640.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196331			"""Histones / Replication-dependent"""	4758	protein-coding gene	gene with protein product		602808	"""H2B histone family, member N"", ""histone 1, H2bo"""	H2BFN		1768865, 12408966	Standard	NM_003527		Approved	H2B/n, H2B.2	uc003nkc.1	P23527	OTTHUMG00000014493	ENST00000303806.4:c.161G>A	6.37:g.27861401G>A	ENSP00000303408:p.Gly54Asp						p.G54D	NM_003527.4	NP_003518.2	P23527	H2B1O_HUMAN			1	199	+			54					Q3KPI7|Q8TCV6	Missense_Mutation	SNP	ENST00000303806.4	37	c.161G>A	CCDS4640.1	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928991	0.73327	.	.	ENSG00000196331	ENST00000303806	T	0.69435	-0.4	3.55	3.55	0.40652	Histone-fold (2);Histone core (1);	.	.	.	.	T	0.82240	0.4994	M	0.93150	3.385	0.51767	D	0.999939	D	0.61697	0.99	D	0.64595	0.927	D	0.87114	0.2187	9	0.87932	D	0	.	14.9186	0.70818	0.0:0.0:1.0:0.0	.	54	P23527	H2B1O_HUMAN	D	54	ENSP00000303408:G54D	ENSP00000303408:G54D	G	+	2	0	HIST1H2BO	27969380	1.000000	0.71417	1.000000	0.80357	0.528000	0.34623	7.022000	0.76431	2.275000	0.75901	0.561000	0.74099	GGC		0.557	HIST1H2BO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040161.1	NM_003527		6	670	0	0	0	1	0	6	670				
PXK	54899	broad.mit.edu	37	3	58385103	58385103	+	Splice_Site	SNP	C	C	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:58385103C>G	ENST00000356151.2	+	12	1289	c.1180C>G	c.(1180-1182)Cca>Gca	p.P394A	PXK_ENST00000302779.5_Splice_Site_p.P377A|PXK_ENST00000484288.1_Splice_Site_p.P394A|PXK_ENST00000383715.4_Splice_Site_p.P377A|PXK_ENST00000536660.1_Splice_Site_p.P257A|PXK_ENST00000463280.1_Splice_Site_p.P361A|PXK_ENST00000479241.1_Splice_Site_p.P377A|PXK_ENST00000383716.3_Splice_Site_p.P361A	NM_017771.3	NP_060241.2			PX domain containing serine/threonine kinase											cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CTTACAGATGCCGTAAGTCAA	0.448																																						ENST00000463280.1																			0				cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19						c.e10+1		PX domain containing serine/threonine kinase							142.0	122.0	129.0					3																	58385103		2203	4300	6503	SO:0001630	splice_region_variant	54899				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity	g.chr3:58385103C>G	AY274811	CCDS2889.1, CCDS74952.1, CCDS74954.1, CCDS74955.1	3p21.2	2008-02-05			ENSG00000168297	ENSG00000168297			23326	protein-coding gene	gene with protein product		611450					Standard	XM_005265255		Approved	FLJ20335	uc003djz.1	Q7Z7A4	OTTHUMG00000159149	ENST00000356151.2:c.1181+1C>G	3.37:g.58385103C>G						PXK_ENST00000356151.2_Splice_Site_p.P394_splice|PXK_ENST00000383716.3_Splice_Site_p.P361_splice|PXK_ENST00000302779.5_Splice_Site_p.P377_splice|PXK_ENST00000479241.1_Splice_Site_p.P377_splice|PXK_ENST00000536660.1_Splice_Site_p.P257_splice|PXK_ENST00000484288.1_Splice_Site_p.P394_splice|PXK_ENST00000383715.4_Splice_Site_p.P377_splice	p.P361_splice			Q7Z7A4	PXK_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)	10	1172	+			394			Protein kinase.			Splice_Site	SNP	ENST00000356151.2	37	c.1082_splice	CCDS2889.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.8|26.8	4.770248|4.770248	0.90108|0.90108	.|.	.|.	ENSG00000168297|ENSG00000168297	ENST00000479134|ENST00000356151;ENST00000302779;ENST00000383716;ENST00000463280;ENST00000383715;ENST00000484288;ENST00000479241;ENST00000536660;ENST00000536750	.|T;T;T;T;T;T;T;T	.|0.34667	.|2.12;2.11;2.12;1.4;1.39;1.4;1.35;2.12	5.87|5.87	5.87|5.87	0.94306|0.94306	.|Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.65196|0.65196	0.2668|0.2668	M|M	0.80183|0.80183	2.485|2.485	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|0.996;0.998;0.989;1.0;0.997;1.0	.|D;D;P;D;D;D	.|0.79108	.|0.953;0.943;0.9;0.992;0.942;0.979	T|T	0.63497|0.63497	-0.6624|-0.6624	5|10	.|0.49607	.|T	.|0.09	-14.302|-14.302	20.5827|20.5827	0.99408|0.99408	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|361;361;361;394;377;394	.|E9PD56;Q7Z7A4-6;B4DID9;Q7Z7A4;Q7Z7A4-4;Q7Z7A4-2	.|.;.;.;PXK_HUMAN;.;.	W|A	148|394;377;361;361;377;394;377;257;257	.|ENSP00000348472:P394A;ENSP00000305045:P377A;ENSP00000373222:P361A;ENSP00000417903:P361A;ENSP00000373221:P377A;ENSP00000417915:P394A;ENSP00000419049:P377A;ENSP00000438356:P257A	.|ENSP00000305045:P377A	C|P	+|+	3|1	2|0	PXK|PXK	58360143|58360143	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.715000|4.715000	0.61909|0.61909	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	TGC|CCA		0.448	PXK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353499.1	NM_017771	Missense_Mutation	46	180	0	0	0	1	0	46	180				
ZNF554	115196	broad.mit.edu	37	19	2834140	2834140	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:2834140C>T	ENST00000317243.5	+	5	1105	c.907C>T	c.(907-909)Cag>Tag	p.Q303*	ZNF554_ENST00000591265.1_3'UTR	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	303					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAAATGGGCAGTCATTGAA	0.478																																						ENST00000317243.5																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23						c.(907-909)Cag>Tag		zinc finger protein 554							88.0	94.0	92.0					19																	2834140		2007	4165	6172	SO:0001587	stop_gained	115196				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:2834140C>T	AK027860	CCDS42462.1	19p13.3	2013-09-20			ENSG00000172006	ENSG00000172006		"""Zinc fingers, C2H2-type"", ""-"""	26629	protein-coding gene	gene with protein product						12477932	Standard	NM_001102651		Approved	FLJ34817	uc002lwm.2	Q86TJ5	OTTHUMG00000180493	ENST00000317243.5:c.907C>T	19.37:g.2834140C>T	ENSP00000321132:p.Gln303*					ZNF554_ENST00000591265.1_3'UTR	p.Q303*	NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	5	1105	+		Hepatocellular(1079;0.137)	303					Q8NAT3|Q9BWN3	Nonsense_Mutation	SNP	ENST00000317243.5	37	c.907C>T	CCDS42462.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.673776	0.67928	.	.	ENSG00000172006	ENST00000317243	.	.	.	2.77	0.44	0.16572	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.99999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9143	0.05748	0.5402:0.2836:0.1762:0.0	.	.	.	.	X	303	.	ENSP00000321132:Q303X	Q	+	1	0	ZNF554	2785140	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.558000	0.23469	-0.062000	0.13088	-0.505000	0.04504	CAG		0.478	ZNF554-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451598.3	NM_152303		118	289	0	0	0	1	0	118	289				
ZNF786	136051	broad.mit.edu	37	7	148767872	148767872	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:148767872G>A	ENST00000491431.1	-	4	2056	c.1992C>T	c.(1990-1992)atC>atT	p.I664I	ZNF786_ENST00000451334.3_Silent_p.I627I|ZNF786_ENST00000316286.9_Silent_p.I578I	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	664					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGATGTGCTCGATGAGCTTTG	0.582																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1732-1734)atC>atT		zinc finger protein 786							70.0	75.0	73.0					7																	148767872		2156	4276	6432	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148767872G>A	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1992C>T	7.37:g.148767872G>A						ZNF786_ENST00000491431.1_Silent_p.I664I|ZNF786_ENST00000451334.3_Silent_p.I627I	p.I578I			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	2006	-	Melanoma(164;0.15)		664					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.1734C>T	CCDS47738.1																																																																																				0.582	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		9	536	0	0	0	1	0	9	536				
OR2T6	254879	broad.mit.edu	37	1	248551551	248551551	+	Silent	SNP	G	G	C	rs373005006		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248551551G>C	ENST00000355728.2	+	1	642	c.642G>C	c.(640-642)gtG>gtC	p.V214V		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	214						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCGGTGGTGACTGCATCCT	0.537																																						ENST00000355728.2																			0				endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						c.(640-642)gtG>gtC		olfactory receptor, family 2, subfamily T, member 6							303.0	230.0	255.0					1																	248551551		2203	4300	6503	SO:0001819	synonymous_variant	254879				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248551551G>C	AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.642G>C	1.37:g.248551551G>C							p.V214V	NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	642	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		214					A6NE36	Silent	SNP	ENST00000355728.2	37	c.642G>C	CCDS31114.1																																																																																				0.537	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471		11	337	0	0	0	1	0	11	337				
PTPN21	11099	broad.mit.edu	37	14	88946299	88946299	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:88946299G>A	ENST00000556564.1	-	13	1760	c.1476C>T	c.(1474-1476)agC>agT	p.S492S	PTPN21_ENST00000328736.3_Silent_p.S492S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	492					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TCTCGGGCTGGCTGTAGACCA	0.677																																						ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1474-1476)agC>agT		protein tyrosine phosphatase, non-receptor type 21							31.0	37.0	35.0					14																	88946299		2203	4299	6502	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88946299G>A	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1476C>T	14.37:g.88946299G>A						PTPN21_ENST00000328736.3_Silent_p.S492S	p.S492S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	1760	-			492						Silent	SNP	ENST00000556564.1	37	c.1476C>T	CCDS9884.1																																																																																				0.677	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			5	263	0	0	0	1	0	5	263				
PCDH9	5101	broad.mit.edu	37	13	66878849	66878849	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:66878849T>A	ENST00000377865.2	-	4	3786	c.3652A>T	c.(3652-3654)Aat>Tat	p.N1218Y	PCDH9_ENST00000456367.1_Missense_Mutation_p.N1184Y|PCDH9_ENST00000328454.5_Missense_Mutation_p.N1184Y|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000544246.1_Missense_Mutation_p.N1218Y			Q9HC56	PCDH9_HUMAN	protocadherin 9	1218					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GACTTCAGATTTGCCAGAGGA	0.438																																						ENST00000544246.1																			0				breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103						c.(3652-3654)Aat>Tat		protocadherin 9							125.0	113.0	117.0					13																	66878849		2203	4300	6503	SO:0001583	missense	5101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr13:66878849T>A	AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3652A>T	13.37:g.66878849T>A	ENSP00000367096:p.Asn1218Tyr					PCDH9_ENST00000456367.1_Missense_Mutation_p.N1184Y|PCDH9_ENST00000377865.2_Missense_Mutation_p.N1218Y|PCDH9-AS1_ENST00000430861.1_RNA|PCDH9_ENST00000328454.5_Missense_Mutation_p.N1184Y	p.N1218Y	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN		GBM - Glioblastoma multiforme(99;0.00819)	5	4343	-		Hepatocellular(98;0.0906)|Breast(118;0.107)	1218					A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	c.3652A>T	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	T	15.50	2.852432	0.51270	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454	T;T;T;T	0.55588	0.58;0.58;0.51;0.51	6.05	6.05	0.98169	.	0.000000	0.50627	D	0.000113	T	0.43389	0.1245	N	0.19112	0.55	0.41796	D	0.989894	B;B;B	0.23442	0.085;0.042;0.085	B;B;B	0.28139	0.064;0.086;0.064	T	0.36890	-0.9729	10	0.56958	D	0.05	.	16.5932	0.84781	0.0:0.0:0.0:1.0	.	1176;1184;1218	B7ZM79;Q9HC56-2;Q9HC56	.;.;PCDH9_HUMAN	Y	1218;1218;1184;1184	ENSP00000442186:N1218Y;ENSP00000367096:N1218Y;ENSP00000401699:N1184Y;ENSP00000332060:N1184Y	ENSP00000332060:N1184Y	N	-	1	0	PCDH9	65776850	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.320000	0.78422	0.528000	0.53228	AAT		0.438	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487		44	285	0	0	0	1	0	44	285				
CNTNAP3B	728577	broad.mit.edu	37	9	43828112	43828112	+	Silent	SNP	A	A	G	rs555608997	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:43828112A>G	ENST00000377564.3	+	9	1761	c.1368A>G	c.(1366-1368)gtA>gtG	p.V456V		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	456	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						GGCACTCTGTATCCTTCTCTG	0.458													N|||	1273	0.254193	0.2209	0.2378	5008	,	,		7147	0.4355		0.2455	False		,,,				2504	0.1329					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1366-1368)gtA>gtG		contactin associated protein-like 3B																																				SO:0001819	synonymous_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43828112A>G	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1368A>G	9.37:g.43828112A>G							p.V456V	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			9	1761	+			456			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Silent	SNP	ENST00000377564.3	37	c.1368A>G	CCDS55312.1	.	.	.	.	.	.	.	.	.	.	N	5.461	0.270213	0.10349	.	.	ENSG00000154529	ENST00000377561	.	.	.	2.6	-5.2	0.02823	.	.	.	.	.	T	0.15782	0.0380	.	.	.	0.51767	P	6.499999999998174E-5	.	.	.	.	.	.	T	0.22034	-1.0228	3	.	.	.	.	0.8201	0.01109	0.4314:0.1307:0.1593:0.2786	.	.	.	.	C	505	.	.	Y	+	2	0	CNTNAP3B	43768108	0.072000	0.21174	0.010000	0.14722	0.245000	0.25701	-0.184000	0.09698	-1.395000	0.02074	-1.123000	0.02005	TAT		0.458	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			4	68	0	0	0	1	0	4	68				
KRTAP5-3	387266	broad.mit.edu	37	11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A	rs75371407		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:1629156T>A	ENST00000399685.1	-	1	537	c.460A>T	c.(460-462)Agc>Tgc	p.S154C		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	154	11 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627																																						ENST00000399685.1																			0				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8						c.(460-462)Agc>Tgc		keratin associated protein 5-3							127.0	139.0	135.0					11																	1629156		2202	4299	6501	SO:0001583	missense	387266					keratin filament		g.chr11:1629156T>A	AB126072	CCDS41591.1	11p15.5	2008-02-05			ENSG00000196224	ENSG00000196224		"""Keratin associated proteins"""	23598	protein-coding gene	gene with protein product						15144888	Standard	NM_001012708		Approved	KRTAP5.3, KRTAP5-9	uc001ltw.1	Q6L8H2	OTTHUMG00000057559	ENST00000399685.1:c.460A>T	11.37:g.1629156T>A	ENSP00000382592:p.Ser154Cys						p.S154C	NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	1	537	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	154			11 X 4 AA repeats of C-C-X-P.		Q6PL44|Q701N3	Missense_Mutation	SNP	ENST00000399685.1	37	c.460A>T	CCDS41591.1	.	.	.	.	.	.	.	.	.	.	T	2.139	-0.397181	0.04899	.	.	ENSG00000196224	ENST00000399685	T	0.01084	5.36	3.75	-3.61	0.04556	.	.	.	.	.	T	0.00468	0.0015	N	0.00742	-1.23	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.46331	-0.9199	9	0.51188	T	0.08	.	5.3378	0.15967	0.4233:0.1302:0.0:0.4465	.	154	Q6L8H2	KRA53_HUMAN	C	154	ENSP00000382592:S154C	ENSP00000382592:S154C	S	-	1	0	KRTAP5-3	1585732	.	.	0.594000	0.28785	0.041000	0.13682	.	.	-0.339000	0.08401	-1.270000	0.01421	AGC		0.627	KRTAP5-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127924.1			7	966	0	0	0	1	0	7	966				
ITGB2	3689	broad.mit.edu	37	21	46306690	46306690	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:46306690C>T	ENST00000397850.2	-	16	2660	c.2208G>A	c.(2206-2208)agG>agA	p.R736R	ITGB2_ENST00000302347.5_Silent_p.R736R|ITGB2_ENST00000397852.1_Silent_p.R736R|ITGB2_ENST00000355153.4_Silent_p.R736R|ITGB2_ENST00000397857.1_Silent_p.R736R|ITGB2_ENST00000397854.3_Silent_p.R679R			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	736					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TCTCAAAGCGCCTGTACTCCC	0.617																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(2206-2208)agG>agA		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						100.0	83.0	89.0					21																	46306690		2203	4300	6503	SO:0001819	synonymous_variant	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46306690C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.2208G>A	21.37:g.46306690C>T						ITGB2_ENST00000355153.4_Silent_p.R736R|ITGB2_ENST00000397852.1_Silent_p.R736R|ITGB2_ENST00000302347.5_Silent_p.R736R|ITGB2_ENST00000397857.1_Silent_p.R736R|ITGB2_ENST00000397854.3_Silent_p.R679R	p.R736R			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	16	2660	-			736					B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	ENST00000397850.2	37	c.2208G>A	CCDS13716.1																																																																																				0.617	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		71	186	0	0	0	1	0	71	186				
SLC35G3	146861	broad.mit.edu	37	17	33520392	33520392	+	Missense_Mutation	SNP	G	G	C	rs375936006		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:33520392G>C	ENST00000297307.5	-	1	1020	c.935C>G	c.(934-936)gCg>gGg	p.A312G	RP11-799D4.2_ENST00000590144.1_RNA	NM_152462.2	NP_689675.1	Q8N808	S35G3_HUMAN	solute carrier family 35, member G3	312	EamA 2.					integral component of membrane (GO:0016021)		p.A312G(4)									AACCCCTGCCGCCACGATGTC	0.567																																						ENST00000297307.5																			4	Substitution - Missense(4)	p.A312G(4)	kidney(4)								c.(934-936)gCg>gGg		solute carrier family 35, member G3							142.0	127.0	132.0					17																	33520392		2203	4300	6503	SO:0001583	missense	146861					integral to membrane		g.chr17:33520392G>C	AK097473	CCDS11293.1	17q21.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000164729	ENSG00000164729		"""Solute carriers"""	26848	protein-coding gene	gene with protein product			"""transmembrane protein 21A"", ""acyl-malonyl condensing enzyme 1"""	TMEM21A, AMAC1			Standard	NM_152462		Approved	FLJ40154	uc002hjd.2	Q8N808	OTTHUMG00000132929	ENST00000297307.5:c.935C>G	17.37:g.33520392G>C	ENSP00000297307:p.Ala312Gly						p.A312G	NM_152462.2	NP_689675.1	Q8N808	AMAC1_HUMAN			1	1020	-			312			DUF6 2.		B9EGE9	Missense_Mutation	SNP	ENST00000297307.5	37	c.935C>G	CCDS11293.1	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.804722	0.00611	.	.	ENSG00000164729	ENST00000297307	T	0.57273	0.41	.	.	.	.	0.000000	0.45126	N	0.000398	T	0.11067	0.0270	N	0.01048	-1.04	0.18873	N	0.999989	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	8	0.02654	T	1	-1.3046	.	.	.	.	312	Q8N808	S35G3_HUMAN	G	312	ENSP00000297307:A312G	ENSP00000297307:A312G	A	-	2	0	SLC35G3	30544505	1.000000	0.71417	0.032000	0.17829	0.032000	0.12392	1.924000	0.40065	-2.418000	0.00566	-2.366000	0.00237	GCG		0.567	SLC35G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256445.2	NM_152462		5	421	0	0	0	1	0	5	421				
HYDIN	54768	broad.mit.edu	37	16	70866926	70866926	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:70866926C>A	ENST00000393567.2	-	80	13874	c.13724G>T	c.(13723-13725)aGc>aTc	p.S4575I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4575					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTCTGGGCTAATGGAGAA	0.408																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(13723-13725)aGc>aTc		HYDIN, axonemal central pair apparatus protein							12.0	11.0	11.0					16																	70866926		1774	4001	5775	SO:0001583	missense	54768							g.chr16:70866926C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13724G>T	16.37:g.70866926C>A	ENSP00000377197:p.Ser4575Ile						p.S4575I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			80	13874	-		Ovarian(137;0.0654)	4575					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.13724G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244960	0.39697	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01092	5.35	4.62	-0.853	0.10709	.	0.182103	0.24965	U	0.034191	T	0.01835	0.0058	M	0.78801	2.425	0.09310	N	1	B	0.32862	0.387	B	0.34418	0.182	T	0.38436	-0.9661	10	0.34782	T	0.22	.	8.4169	0.32676	0.0:0.4301:0.424:0.1459	.	4574	F8WD23	.	I	4575;4574	ENSP00000377197:S4575I	ENSP00000313052:S4574I	S	-	2	0	HYDIN	69424427	0.000000	0.05858	0.991000	0.47740	0.958000	0.62258	-0.587000	0.05780	0.231000	0.21079	0.511000	0.50034	AGC		0.408	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			27	85	1	0	4.92203e-23	1	5.16677e-23	27	85				
ADAD2	161931	broad.mit.edu	37	16	84228145	84228145	+	Silent	SNP	G	G	A	rs541603528		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:84228145G>A	ENST00000315906.5	+	2	568	c.516G>A	c.(514-516)gcG>gcA	p.A172A	RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|ADAD2_ENST00000268624.3_Silent_p.A244A|RP11-486L19.2_ENST00000565643.1_RNA	NM_001145400.1	NP_001138872.1	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	172	DRBM. {ECO:0000255|PROSITE- ProRule:PRU00266}.				RNA processing (GO:0006396)		adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						AGCAGGCAGCGCTCTCTGCCC	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		18538	0.001		0.0	False		,,,				2504	0.0					ENST00000268624.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						c.(730-732)gcG>gcA		adenosine deaminase domain containing 2							43.0	39.0	41.0					16																	84228145		2200	4299	6499	SO:0001819	synonymous_variant	161931				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding	g.chr16:84228145G>A	AF447586	CCDS10944.1, CCDS45536.1	16q24.1	2007-05-31			ENSG00000140955	ENSG00000140955			30714	protein-coding gene	gene with protein product							Standard	NM_139174		Approved	TENRL, FLJ00337	uc002fhr.2	Q8NCV1	OTTHUMG00000137637	ENST00000315906.5:c.516G>A	16.37:g.84228145G>A						RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA|RP11-486L19.2_ENST00000561900.1_RNA|ADAD2_ENST00000315906.5_Silent_p.A172A	p.A244A	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN			3	825	+			172					B2RCL6|Q8NA94	Silent	SNP	ENST00000315906.5	37	c.732G>A	CCDS45536.1	.	.	.	.	.	.	.	.	.	.	G	1.347	-0.592612	0.03799	.	.	ENSG00000250685	ENST00000536986	.	.	.	4.15	-8.3	0.01005	.	0.000000	0.51477	D	0.000099	T	0.12050	0.0293	.	.	.	0.23791	N	0.996838	P	0.37997	0.614	B	0.29785	0.107	T	0.04825	-1.0924	8	0.87932	D	0	-25.5618	1.4709	0.02415	0.2479:0.1681:0.4182:0.1658	.	73	Q6ZW55	.	V	59	.	ENSP00000444170:A59V	A	-	2	0	AC009123.1	82785646	0.000000	0.05858	0.003000	0.11579	0.170000	0.22686	-3.759000	0.00373	-2.298000	0.00660	-1.291000	0.01355	GCG		0.642	ADAD2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433385.1	NM_139174		36	31	0	0	0	1	0	36	31				
STXBP4	252983	broad.mit.edu	37	17	53158469	53158469	+	Missense_Mutation	SNP	C	C	T	rs199941077	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:53158469C>T	ENST00000376352.2	+	16	1621	c.1414C>T	c.(1414-1416)Cgt>Tgt	p.R472C	STXBP4_ENST00000434978.2_Missense_Mutation_p.R450C	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	472					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AAGGAATGGACGTAGCATCCC	0.398													C|||	2	0.000399361	0.0015	0.0	5008	,	,		17175	0.0		0.0	False		,,,				2504	0.0					ENST00000376352.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1414-1416)Cgt>Tgt		syntaxin binding protein 4							136.0	123.0	127.0					17																	53158469		2203	4300	6503	SO:0001583	missense	252983					cytoplasm	calcium ion binding	g.chr17:53158469C>T	BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1414C>T	17.37:g.53158469C>T	ENSP00000365530:p.Arg472Cys					STXBP4_ENST00000434978.2_Missense_Mutation_p.R450C	p.R472C	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN			16	1621	+			472					Q8IVZ5	Missense_Mutation	SNP	ENST00000376352.2	37	c.1414C>T	CCDS11584.2	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.85	2.954687	0.53293	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.48201	0.82;0.82	5.47	4.5	0.54988	.	0.308438	0.36234	N	0.002705	T	0.50069	0.1594	M	0.63428	1.95	0.80722	D	1	D;D	0.60160	0.973;0.987	B;P	0.45610	0.325;0.487	T	0.58312	-0.7658	10	0.87932	D	0	-5.9541	13.5669	0.61824	0.1561:0.8439:0.0:0.0	.	450;472	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	C	472;450	ENSP00000365530:R472C;ENSP00000391087:R450C	ENSP00000365530:R472C	R	+	1	0	STXBP4	50513468	0.902000	0.30710	0.162000	0.22713	0.460000	0.32559	2.902000	0.48703	1.513000	0.48852	0.650000	0.86243	CGT		0.398	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157184.1	NM_178509		67	160	0	0	0	1	0	67	160				
WFDC10A	140832	broad.mit.edu	37	20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000372643.3																			0				large_intestine(2)	2						c.(79-81)aAg>aTg		WAP four-disulfide core domain 10A							164.0	128.0	140.0					20																	44258532		2203	4300	6503	SO:0001583	missense	140832					extracellular region	serine-type endopeptidase inhibitor activity	g.chr20:44258532A>T	AL031671	CCDS13363.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000180305	ENSG00000180305		"""WAP four-disulfide core domain containing"""	16139	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 146"""	C20orf146		12206714	Standard	NM_080753		Approved	dJ688G8.3, WAP10	uc002xoz.3	Q9H1F0	OTTHUMG00000046331	ENST00000372643.3:c.80A>T	20.37:g.44258532A>T	ENSP00000361726:p.Lys27Met		OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	922	WFDC9_ENST00000326000.1_Intron	p.K27M	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN			1	368	+		Myeloproliferative disorder(115;0.0122)	27					A2RRE9|Q5TGZ7	Missense_Mutation	SNP	ENST00000372643.3	37	c.80A>T	CCDS13363.1	.	.	.	.	.	.	.	.	.	.	A	10.60	1.394655	0.25205	.	.	ENSG00000180305	ENST00000372643	T	0.20069	2.1	2.43	-1.2	0.09554	.	3.060220	0.01594	N	0.021727	T	0.26159	0.0638	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.53912	0.737	T	0.11542	-1.0583	9	0.37606	T	0.19	.	2.1255	0.03737	0.4267:0.0:0.3261:0.2472	.	27	Q9H1F0	WF10A_HUMAN	M	27	ENSP00000361726:K27M	ENSP00000361726:K27M	K	+	2	0	WFDC10A	43691946	0.000000	0.05858	0.000000	0.03702	0.101000	0.19017	-0.356000	0.07661	-0.311000	0.08754	-0.274000	0.10170	AAG		0.587	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106944.2			4	164	0	0	0	1	0	4	164				
ZSCAN21	7589	broad.mit.edu	37	7	99654807	99654807	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:99654807C>T	ENST00000292450.4	+	2	342	c.178C>T	c.(178-180)Cga>Tga	p.R60*	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000543588.1_Nonsense_Mutation_p.R60*	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	60	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CCCTGGACCCCGAGAGGCCCT	0.577																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(178-180)Cga>Tga		zinc finger and SCAN domain containing 21							67.0	69.0	68.0					7																	99654807		2203	4300	6503	SO:0001587	stop_gained	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99654807C>T	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.178C>T	7.37:g.99654807C>T	ENSP00000292450:p.Arg60*					ZSCAN21_ENST00000456748.2_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000543588.1_Nonsense_Mutation_p.R60*|ZSCAN21_ENST00000477297.1_3'UTR	p.R60*	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	342	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		60			SCAN box.		A4D2A6|D6W5T9|Q9H0B5	Nonsense_Mutation	SNP	ENST00000292450.4	37	c.178C>T	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	C	32	5.126050	0.94429	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	.	.	.	4.91	3.06	0.35304	.	0.000000	0.35436	N	0.003206	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9397	0.19186	0.189:0.7149:0.0:0.0962	.	.	.	.	X	60	.	ENSP00000292450:R60X	R	+	1	2	ZSCAN21	99492743	0.350000	0.24878	0.968000	0.41197	0.669000	0.39330	0.544000	0.23253	0.758000	0.33059	0.655000	0.94253	CGA		0.577	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		105	319	0	0	0	1	0	105	319				
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:29091840T>C	ENST00000405598.1	-	12	1308	c.1117A>G	c.(1117-1119)Aag>Gag	p.K373E	CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000544772.1_Missense_Mutation_p.K152E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E			O96017	CHK2_HUMAN	checkpoint kinase 2	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			9	Substitution - Missense(9)	p.K373E(9)	kidney(4)|prostate(2)|endometrium(1)|stomach(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(454-456)Aag>Gag	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2																																				SO:0001583	missense	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091840T>C	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1117A>G	22.37:g.29091840T>C	ENSP00000386087:p.Lys373Glu					CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E	p.K152E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1890	-			373			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Missense_Mutation	SNP	ENST00000405598.1	37	c.454A>G	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	T	19.06	3.754336	0.69648	.	.	ENSG00000183765	ENST00000348295;ENST00000382578;ENST00000544772;ENST00000328354;ENST00000404276;ENST00000405598;ENST00000382580;ENST00000403642;ENST00000402731	T;T;T;T;T;T;T;T;T	0.54071	0.9;0.59;0.59;0.59;0.59;0.59;0.59;0.59;0.9	5.89	5.89	0.94794	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043710	0.85682	D	0.000000	T	0.56292	0.1975	N	0.11756	0.17	0.80722	D	1	D;D;D;D;D;D	0.76494	0.996;0.999;0.998;0.998;0.993;0.991	P;D;D;D;D;P	0.74674	0.905;0.984;0.943;0.969;0.923;0.896	T	0.64769	-0.6329	10	0.87932	D	0	-1.7726	15.4726	0.75453	0.0:0.0:0.0:1.0	.	282;152;373;344;373;416	O96017-4;Q9HBS5;A8JZZ5;O96017-12;O96017;O96017-9	.;.;.;.;CHK2_HUMAN;.	E	344;282;152;373;373;373;416;282;344	ENSP00000329012:K344E;ENSP00000372021:K282E;ENSP00000442458:K152E;ENSP00000329178:K373E;ENSP00000385747:K373E;ENSP00000386087:K373E;ENSP00000372023:K416E;ENSP00000384919:K282E;ENSP00000384835:K344E	ENSP00000329178:K373E	K	-	1	0	CHEK2	27421840	1.000000	0.71417	1.000000	0.80357	0.479000	0.33129	4.270000	0.58896	2.248000	0.74166	0.528000	0.53228	AAG		0.418	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		12	255	0	0	0	1	0	12	255				
FGF7	2252	broad.mit.edu	37	15	49776634	49776634	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:49776634C>T	ENST00000267843.4	+	4	1129	c.518C>T	c.(517-519)cCt>cTt	p.P173L	FAM227B_ENST00000299338.6_Intron|FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000561064.1_Intron	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	173					actin cytoskeleton reorganization (GO:0031532)|branching involved in salivary gland morphogenesis (GO:0060445)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis development (GO:0008544)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle morphogenesis (GO:0031069)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein localization to cell surface (GO:0034394)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|response to wounding (GO:0009611)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)		AAGGGGATTCCTGTAAGAGGA	0.363																																						ENST00000267843.4																			0				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						c.(517-519)cCt>cTt		fibroblast growth factor 7	Palifermin(DB00039)						22.0	22.0	22.0					15																	49776634		2016	3846	5862	SO:0001583	missense	2252				actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	g.chr15:49776634C>T	M60828	CCDS10131.1	15q21.2	2014-01-30	2010-08-18		ENSG00000140285	ENSG00000140285		"""Endogenous ligands"""	3685	protein-coding gene	gene with protein product	"""keratinocyte growth factor"""	148180	"""fibroblast growth factor 7 (keratinocyte growth factor)"""			7749227, 1409637	Standard	NM_002009		Approved	KGF	uc001zxn.3	P21781	OTTHUMG00000131517	ENST00000267843.4:c.518C>T	15.37:g.49776634C>T	ENSP00000267843:p.Pro173Leu					FGF7_ENST00000560704.1_3'UTR|FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron	p.P173L	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	4	1129	+		all_lung(180;0.00391)	173					H0YNY5|Q6FGV5|Q96FG5	Missense_Mutation	SNP	ENST00000267843.4	37	c.518C>T	CCDS10131.1	.	.	.	.	.	.	.	.	.	.	C	23.2	4.389361	0.82902	.	.	ENSG00000140285	ENST00000267843	D	0.82619	-1.63	5.81	5.81	0.92471	.	0.161108	0.56097	D	0.000032	D	0.90734	0.7092	.	.	.	0.80722	D	1	D	0.71674	0.998	D	0.67725	0.953	D	0.89600	0.3834	9	0.44086	T	0.13	.	19.6764	0.95936	0.0:1.0:0.0:0.0	.	173	P21781	FGF7_HUMAN	L	173	ENSP00000267843:P173L	ENSP00000267843:P173L	P	+	2	0	FGF7	47563926	1.000000	0.71417	0.913000	0.36048	0.986000	0.74619	7.626000	0.83164	2.730000	0.93505	0.650000	0.86243	CCT		0.363	FGF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254374.3	NM_002009		5	146	0	0	0	1	0	5	146				
CKAP2	26586	broad.mit.edu	37	13	53035900	53035900	+	Silent	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:53035900A>G	ENST00000378037.5	+	4	1032	c.942A>G	c.(940-942)ctA>ctG	p.L314L	CKAP2_ENST00000490903.1_Silent_p.L265L|CKAP2_ENST00000378034.3_Silent_p.L313L|CKAP2_ENST00000258607.5_Silent_p.L313L	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		ATAAGACTCTATCAAGATCCA	0.388																																						ENST00000378037.5																			0				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20						c.(940-942)ctA>ctG		cytoskeleton associated protein 2							77.0	82.0	81.0					13																	53035900		2203	4300	6503	SO:0001819	synonymous_variant	0				apoptosis|cell cycle	centrosome|microtubule|spindle pole		g.chr13:53035900A>G	AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.942A>G	13.37:g.53035900A>G						CKAP2_ENST00000378034.3_Silent_p.L313L|CKAP2_ENST00000490903.1_Silent_p.L265L|CKAP2_ENST00000258607.5_Silent_p.L313L	p.L314L	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN		GBM - Glioblastoma multiforme(99;2.6e-08)	4	1032	+		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	314						Silent	SNP	ENST00000378037.5	37	c.942A>G	CCDS41893.1																																																																																				0.388	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355010.2			8	596	0	0	0	1	0	8	596				
BCKDHA	593	broad.mit.edu	37	19	41916889	41916889	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:41916889G>A	ENST00000269980.2	+	3	718	c.350G>A	c.(349-351)cGc>cAc	p.R117H	CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R151H|BCKDHA_ENST00000457836.2_Missense_Mutation_p.R95H|BCKDHA_ENST00000595085.1_Missense_Mutation_p.R151H	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	117					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	mitochondrial alpha-ketoglutarate dehydrogenase complex (GO:0005947)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity (GO:0003863)|alpha-ketoacid dehydrogenase activity (GO:0003826)|carboxy-lyase activity (GO:0016831)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						ACCATGGACCGCATCCTCTAT	0.587																																						ENST00000269980.2																			0				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						c.(349-351)cGc>cAc		branched chain keto acid dehydrogenase E1, alpha polypeptide							144.0	131.0	136.0					19																	41916889		2203	4300	6503	SO:0001583	missense	593				branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding	g.chr19:41916889G>A	J04474	CCDS12581.1	19q13.1-q13.2	2008-07-09	2005-11-29		ENSG00000248098	ENSG00000248098			986	protein-coding gene	gene with protein product	"""maple syrup urine disease"""	608348	"""branched chain keto acid dehydrogenase E1, alpha polypeptide (maple syrup urine disease)"", ""2-oxoisovalerate dehydrogenase (lipoamide)"""	OVD1A			Standard	NM_000709		Approved	MSU	uc002oqq.3	P12694	OTTHUMG00000168128	ENST00000269980.2:c.350G>A	19.37:g.41916889G>A	ENSP00000269980:p.Arg117His					CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.R151H|BCKDHA_ENST00000457836.2_Missense_Mutation_p.R95H|BCKDHA_ENST00000595085.1_Missense_Mutation_p.R151H	p.R117H	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN			3	718	+			117					B4DP47|E7EW46|Q16034|Q16472	Missense_Mutation	SNP	ENST00000269980.2	37	c.350G>A	CCDS12581.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	34|34	5.349762|5.349762	0.95830|0.95830	.|.	.|.	ENSG00000248098|ENSG00000255730;ENSG00000248098;ENSG00000248098;ENSG00000248098	ENST00000541315|ENST00000540732;ENST00000269980;ENST00000457836;ENST00000378196	.|D;D;D	.|0.99194	.|-5.54;-5.54;-5.54	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Dehydrogenase, E1 component (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99093|0.99093	0.9688|0.9688	M|M	0.75085|0.75085	2.285|2.285	0.80722|0.80722	D|D	1|1	.|D;P;D;B	.|0.69078	.|0.997;0.49;0.986;0.129	.|D;B;P;B	.|0.64144	.|0.922;0.041;0.751;0.043	D|D	0.99620|0.99620	1.0983|1.0983	5|10	.|0.45353	.|T	.|0.12	-22.6744|-22.6744	17.984|17.984	0.89151|0.89151	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|95;117;117;151	.|B4DP47;Q59EI3;P12694;F5H5P2	.|.;.;ODBA_HUMAN;.	T|H	53|151;117;95;117	.|ENSP00000443246:R151H;ENSP00000269980:R117H;ENSP00000416000:R95H	.|ENSP00000269980:R117H	A|R	+|+	1|2	0|0	BCKDHA|BCKDHA;CTC-435M10.3	46608729|46608729	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.252000|9.252000	0.95491|0.95491	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	GCA|CGC		0.587	BCKDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398313.3	NM_000709		7	966	0	0	0	1	0	7	966				
ASPM	259266	broad.mit.edu	37	1	197112823	197112823	+	Silent	SNP	T	T	G	rs201333656		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:197112823T>G	ENST00000367409.4	-	3	815	c.559A>C	c.(559-561)Aga>Cga	p.R187R	ASPM_ENST00000294732.7_Silent_p.R187R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	187					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTCCTAACTCTGTCAACTTTT	0.343																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(559-561)Aga>Cga		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							53.0	56.0	55.0					1																	197112823		2203	4299	6502	SO:0001819	synonymous_variant	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197112823T>G	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.559A>C	1.37:g.197112823T>G						ASPM_ENST00000294732.7_Silent_p.R187R	p.R187R	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			3	815	-			187					Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	ENST00000367409.4	37	c.559A>C	CCDS1389.1																																																																																				0.343	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		160	241	0	0	0	1	0	160	241				
ZC3HAV1	56829	broad.mit.edu	37	7	138749667	138749667	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:138749667G>A	ENST00000242351.5	-	8	2267	c.1951C>T	c.(1951-1953)Cca>Tca	p.P651S	ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P773S|ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P651S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	651	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral genome replication (GO:0045071)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of mRNA catabolic process (GO:0061014)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						GCCTGAAATGGCACAACTCCC	0.453																																						ENST00000242351.5																			0				cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						c.(1951-1953)Cca>Tca		zinc finger CCCH-type, antiviral 1							131.0	122.0	125.0					7																	138749667		2203	4300	6503	SO:0001583	missense	56829				response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding	g.chr7:138749667G>A	BX571742	CCDS5851.1, CCDS55171.1	7q34	2012-07-05			ENSG00000105939	ENSG00000105939		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	23721	protein-coding gene	gene with protein product	"""zinc finger antiviral protein"", "" CCCH-type zinc finger antiviral protein"""	607312				12215647, 12851707	Standard	NM_024625		Approved	ZAP, FLB6421, FLJ13288, MGC48898, ZC3HDC2, ZC3H2, PARP13	uc003vun.3	Q7Z2W4	OTTHUMG00000157471	ENST00000242351.5:c.1951C>T	7.37:g.138749667G>A	ENSP00000242351:p.Pro651Ser					ZC3HAV1_ENST00000471652.1_Missense_Mutation_p.P651S|ZC3HAV1_ENST00000464606.1_Missense_Mutation_p.P773S	p.P651S	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN			8	2267	-			651			WWE.		A4D1R2|A4D1S4|Q8IW57|Q8TAJ3|Q96N79|Q9H8R9|Q9P0Y7	Missense_Mutation	SNP	ENST00000242351.5	37	c.1951C>T	CCDS5851.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.022|9.022	0.985173|0.985173	0.18889|0.18889	.|.	.|.	ENSG00000105939|ENSG00000105939	ENST00000460845|ENST00000242351;ENST00000464606;ENST00000471652;ENST00000540247	.|T;T;T	.|0.27402	.|1.67;1.67;1.67	4.32|4.32	1.18|1.18	0.20946|0.20946	.|WWE domain (1);	.|0.865061	.|0.09843	.|N	.|0.748673	T|T	0.17323|0.17323	0.0416|0.0416	N|N	0.26130|0.26130	0.795|0.795	0.09310|0.09310	N|N	1|1	.|B;B	.|0.13594	.|0.003;0.008	.|B;B	.|0.11329	.|0.004;0.006	T|T	0.32188|0.32188	-0.9916|-0.9916	5|10	.|0.16896	.|T	.|0.51	.|.	4.2286|4.2286	0.10592|0.10592	0.0932:0.1468:0.5896:0.1704|0.0932:0.1468:0.5896:0.1704	.|.	.|651;651	.|Q7Z2W4-2;Q7Z2W4	.|.;ZCCHV_HUMAN	V|S	215|651;773;651;411	.|ENSP00000242351:P651S;ENSP00000418385:P773S;ENSP00000419855:P651S	.|ENSP00000242351:P651S	A|P	-|-	2|1	0|0	ZC3HAV1|ZC3HAV1	138400207|138400207	0.001000|0.001000	0.12720|0.12720	0.027000|0.027000	0.17364|0.17364	0.001000|0.001000	0.01503|0.01503	0.409000|0.409000	0.21082|0.21082	0.536000|0.536000	0.28733|0.28733	-0.293000|-0.293000	0.09583|0.09583	GCC|CCA		0.453	ZC3HAV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348915.1	NM_020119		5	439	0	0	0	1	0	5	439				
LINC00969	440993	broad.mit.edu	37	3	195410687	195410687	+	lincRNA	SNP	T	T	A	rs6583274	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:195410687T>A	ENST00000445430.1	+	0	1884									long intergenic non-protein coding RNA 969																		CCCTTTGAGGTGCACTGGAGG	0.567													.|||	701	0.139976	0.0552	0.1571	5008	,	,		36746	0.1855		0.16	False		,,,				2504	0.1748					ENST00000445430.1																			0																																																			0							g.chr3:195410687T>A	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.195410687T>A														0	1884	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.567	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			7	77	0	0	0	1	0	7	77				
PTH2	113091	broad.mit.edu	37	19	49926533	49926533	+	Missense_Mutation	SNP	G	G	C	rs200733272|rs371950649	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:49926533G>C	ENST00000270631.1	-	1	165	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	22					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)		p.L22V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		GGCACCACcagcagcagcagc	0.692													g|||	17	0.00339457	0.003	0.0043	5008	,	,		11369	0.004		0.002	False		,,,				2504	0.0041					ENST00000270631.1																			2	Substitution - Missense(2)	p.L22V(2)	endometrium(2)	endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6						c.(64-66)Ctg>Gtg		parathyroid hormone 2			VAL/LEU	12,4376		0,12,2182	12.0	16.0	14.0		64	3.3	0.0	19		14	11,8561		0,11,4275	no	missense	PTH2	NM_178449.3	32	0,23,6457	CC,CG,GG		0.1283,0.2735,0.1775	possibly-damaging	22/101	49926533	23,12937	2194	4286	6480	SO:0001583	missense	113091				neuropeptide signaling pathway	extracellular region		g.chr19:49926533G>C	AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.64C>G	19.37:g.49926533G>C	ENSP00000270631:p.Leu22Val						p.L22V	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)	1	165	-			22					Q96DJ4	Missense_Mutation	SNP	ENST00000270631.1	37	c.64C>G	CCDS12763.1	.	.	.	.	.	.	.	.	.	.	g	6.292	0.421904	0.11928	0.002735	0.001283	ENSG00000142538	ENST00000270631	.	.	.	4.3	3.26	0.37387	.	0.489236	0.15528	U	0.257640	T	0.26521	0.0648	L	0.27053	0.805	0.09310	N	1	P	0.46142	0.873	B	0.39419	0.299	T	0.08066	-1.0740	9	0.87932	D	0	-7.2733	12.3672	0.55234	0.0:0.1717:0.8283:0.0	.	22	Q96A98	TIP39_HUMAN	V	22	.	ENSP00000270631:L22V	L	-	1	2	PTH2	54618345	0.088000	0.21588	0.012000	0.15200	0.011000	0.07611	-0.504000	0.06375	0.947000	0.37659	-0.370000	0.07254	CTG		0.692	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465366.1	NM_178449		5	117	0	0	0	1	0	5	117				
CROCCP2	84809	broad.mit.edu	37	1	16945566	16945566	+	lincRNA	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:16945566C>T	ENST00000412962.1	-	0	1953				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											TCTCTGACAGCGCCATCTTCT	0.622																																						ENST00000412962.1																			0																																																			0							g.chr1:16945566C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16945566C>T														0	1953	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.622	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		273	1517	0	0	0	1	0	273	1517				
MUC17	140453	broad.mit.edu	37	7	100681979	100681979	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:100681979G>A	ENST00000306151.4	+	3	7346	c.7282G>A	c.(7282-7284)Gtc>Atc	p.V2428I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2428	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACACCTGTCACCACTTC	0.517																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(7282-7284)Gtc>Atc		mucin 17, cell surface associated							363.0	355.0	357.0					7																	100681979		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100681979G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.7282G>A	7.37:g.100681979G>A	ENSP00000302716:p.Val2428Ile						p.V2428I	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	7346	+	Lung NSC(181;0.136)|all_lung(186;0.182)		2428			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.7282G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	g	7.438	0.640101	0.14386	.	.	ENSG00000169876	ENST00000306151	T	0.02369	4.32	1.52	-1.87	0.07737	.	.	.	.	.	T	0.01353	0.0044	N	0.19112	0.55	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.49283	-0.8956	9	0.17369	T	0.5	.	4.4761	0.11745	0.0:0.2804:0.5127:0.2069	.	2428	Q685J3	MUC17_HUMAN	I	2428	ENSP00000302716:V2428I	ENSP00000302716:V2428I	V	+	1	0	MUC17	100468699	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.694000	0.05115	-0.091000	0.12440	0.089000	0.15464	GTC		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		9	1775	0	0	0	1	0	9	1775				
TCERG1L	256536	broad.mit.edu	37	10	133058648	133058648	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:133058648C>T	ENST00000368642.4	-	4	815	c.730G>A	c.(730-732)Gcc>Acc	p.A244T		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	244	Poly-Ala.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		gcagcggcggcggcggtggcg	0.662																																						ENST00000368642.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31						c.(730-732)Gcc>Acc		transcription elongation regulator 1-like							16.0	18.0	18.0					10																	133058648		2193	4283	6476	SO:0001583	missense	256536							g.chr10:133058648C>T	AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.730G>A	10.37:g.133058648C>T	ENSP00000357631:p.Ala244Thr						p.A244T	NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)	4	815	-		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)	244			Poly-Ala.		Q5VWI2|Q86XM8	Missense_Mutation	SNP	ENST00000368642.4	37	c.730G>A	CCDS7662.2	.	.	.	.	.	.	.	.	.	.	C	9.872	1.199205	0.22121	.	.	ENSG00000176769	ENST00000368642	T	0.30448	1.53	4.78	2.6	0.31112	.	0.315243	0.26439	N	0.024363	T	0.14700	0.0355	N	0.19112	0.55	0.09310	N	1	B	0.25850	0.136	B	0.15052	0.012	T	0.10337	-1.0634	9	.	.	.	-6.2774	6.1164	0.20130	0.1907:0.6978:0.0:0.1115	.	244	Q5VWI1	TCRGL_HUMAN	T	244	ENSP00000357631:A244T	.	A	-	1	0	TCERG1L	132948638	0.050000	0.20438	0.652000	0.29579	0.039000	0.13416	0.093000	0.15086	2.189000	0.69895	0.655000	0.94253	GCC		0.662	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091619.2	NM_174937		7	33	0	0	0	1	0	7	33				
KSR2	283455	broad.mit.edu	37	12	117914339	117914339	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:117914339G>A	ENST00000339824.5	-	17	3239	c.2512C>T	c.(2512-2514)Cgc>Tgc	p.R838C	KSR2_ENST00000425217.1_Missense_Mutation_p.R809C|KSR2_ENST00000302438.5_3'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	838	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACAGCTGGCGGATGATCTCT	0.582																																						ENST00000425217.1																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						c.(2425-2427)Cgc>Tgc		kinase suppressor of ras 2							61.0	74.0	69.0					12																	117914339		2071	4213	6284	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117914339G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2512C>T	12.37:g.117914339G>A	ENSP00000339952:p.Arg838Cys					KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000339824.5_Missense_Mutation_p.R838C	p.R809C	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN			17	2479	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		838			Protein kinase.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.2425C>T		.	.	.	.	.	.	.	.	.	.	G	15.89	2.965842	0.53507	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.83419	-1.72;-1.72	5.69	4.81	0.61882	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057415	0.64402	D	0.000001	D	0.85217	0.5646	M	0.89904	3.07	0.58432	D	0.999999	B	0.19935	0.04	B	0.19391	0.025	D	0.83736	0.0201	10	0.66056	D	0.02	.	10.7666	0.46297	0.1442:0.0:0.8558:0.0	.	838	Q6VAB6	KSR2_HUMAN	C	809;838	ENSP00000389715:R809C;ENSP00000339952:R838C	ENSP00000339952:R838C	R	-	1	0	KSR2	116398722	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	8.061000	0.89467	1.407000	0.46875	-0.142000	0.14014	CGC		0.582	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		11	41	0	0	0	1	0	11	41				
FRG1B	284802	broad.mit.edu	37	20	29625908	29625908	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:29625908G>A	ENST00000278882.3	+	5	532	c.152G>A	c.(151-153)gGt>gAt	p.G51D	FRG1B_ENST00000358464.4_Missense_Mutation_p.G51D|FRG1B_ENST00000439954.2_Missense_Mutation_p.G56D			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	51										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						AAATATCTTGGTATAAATTCA	0.323																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(151-153)gGt>gAt																																						SO:0001583	missense	0							g.chr20:29625908G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.152G>A	20.37:g.29625908G>A	ENSP00000278882:p.Gly51Asp					FRG1B_ENST00000358464.4_Missense_Mutation_p.G51D|FRG1B_ENST00000439954.2_Missense_Mutation_p.G56D	p.G51D							5	532	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.152G>A		.	.	.	.	.	.	.	.	.	.	g	12.26	1.884329	0.33255	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50813	0.73	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.64427	0.2597	.	.	.	0.54753	D	0.999982	D	0.69078	0.997	D	0.91635	0.999	T	0.67515	-0.5651	9	0.72032	D	0.01	.	9.3557	0.38164	0.0:0.0:1.0:0.0	.	56	F5H5R5	.	D	51;56;51	ENSP00000408863:G56D	ENSP00000278882:G51D	G	+	2	0	FRG1B	28239569	1.000000	0.71417	1.000000	0.80357	0.037000	0.13140	8.114000	0.89570	1.250000	0.43966	0.184000	0.17185	GGT		0.323	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		7	544	0	0	0	1	0	7	544				
PCLO	27445	broad.mit.edu	37	7	82784468	82784468	+	Missense_Mutation	SNP	C	C	T	rs201660744	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:82784468C>T	ENST00000333891.9	-	2	1826	c.1489G>A	c.(1489-1491)Gca>Aca	p.A497T	PCLO_ENST00000423517.2_Missense_Mutation_p.A497T	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGGCTTTGCTGAGCCAGGC	0.612													C|||	4	0.000798722	0.0023	0.0014	5008	,	,		12144	0.0		0.0	False		,,,				2504	0.0					ENST00000423517.2																			0				breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						c.(1489-1491)Gca>Aca		piccolo presynaptic cytomatrix protein							92.0	100.0	97.0					7																	82784468		1946	4135	6081	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82784468C>T	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.1489G>A	7.37:g.82784468C>T	ENSP00000334319:p.Ala497Thr					PCLO_ENST00000333891.8_Missense_Mutation_p.A497T	p.A497T	NM_014510.2	NP_055325.2	Q9Y6V0	PCLO_HUMAN			2	1826	-			443			10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.			Missense_Mutation	SNP	ENST00000333891.9	37	c.1489G>A	CCDS47630.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.192|7.192	0.591653|0.591653	0.13812|0.13812	.|.	.|.	ENSG00000186472|ENSG00000186472	ENST00000431819|ENST00000333891;ENST00000423517	.|T;T	.|0.16324	.|2.35;2.36	4.64|4.64	1.63|1.63	0.23807|0.23807	.|.	.|.	.|.	.|.	.|.	.|T	.|0.10121	.|0.0248	N|N	0.16656|0.16656	0.425|0.425	0.22639|0.22639	N|N	0.998905|0.998905	.|B;B	.|0.23806	.|0.091;0.091	.|B;B	.|0.22386	.|0.039;0.039	.|T	.|0.29181	.|-1.0020	.|9	.|0.87932	.|D	.|0	.|.	5.9415|5.9415	0.19196|0.19196	0.2522:0.5969:0.0:0.1508|0.2522:0.5969:0.0:0.1508	.|.	.|497;497	.|Q9Y6V0-5;Q9Y6V0-6	.|.;.	.|T	-1|497	.|ENSP00000334319:A497T;ENSP00000388393:A497T	.|ENSP00000334319:A497T	.|A	-|-	.|1	.|0	PCLO|PCLO	82622404|82622404	0.000000|0.000000	0.05858|0.05858	0.028000|0.028000	0.17463|0.17463	0.096000|0.096000	0.18686|0.18686	-0.716000|-0.716000	0.04991|0.04991	0.508000|0.508000	0.28173|0.28173	-0.224000|-0.224000	0.12420|0.12420	.|GCA		0.612	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510		10	744	0	0	0	1	0	10	744				
KRTAP5-7	440050	broad.mit.edu	37	11	71238580	71238580	+	Silent	SNP	C	C	T	rs12271719		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:71238580C>T	ENST00000398536.4	+	1	268	c.234C>T	c.(232-234)ggC>ggT	p.G78G		NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN	keratin associated protein 5-7	78	7 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						GGGGCTGTGGCTCTTGTGGGG	0.642																																						ENST00000398536.4																			0				breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1)	12						c.(232-234)ggC>ggT		keratin associated protein 5-7							72.0	99.0	90.0					11																	71238580		2199	4294	6493	SO:0001819	synonymous_variant	440050					keratin filament		g.chr11:71238580C>T	AB126076	CCDS41682.1	11q13.4	2008-02-05			ENSG00000244411	ENSG00000244411		"""Keratin associated proteins"""	23602	protein-coding gene	gene with protein product						15144888	Standard	NM_001012503		Approved	KRTAP5.7, KRTAP5-3	uc001oqq.1	Q6L8G8	OTTHUMG00000057570	ENST00000398536.4:c.234C>T	11.37:g.71238580C>T							p.G78G	NM_001012503.1	NP_001012521.1	Q6L8G8	KRA57_HUMAN			1	268	+			78			7 X 4 AA repeats of C-C-X-P.		B2RNM3|Q701N5	Silent	SNP	ENST00000398536.4	37	c.234C>T	CCDS41682.1																																																																																				0.642	KRTAP5-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127953.1			6	815	0	0	0	1	0	6	815				
CCDC105	126402	broad.mit.edu	37	19	15131402	15131402	+	Nonsense_Mutation	SNP	C	C	T	rs372493151		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:15131402C>T	ENST00000292574.3	+	3	887	c.805C>T	c.(805-807)Cga>Tga	p.R269*		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	269						extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GAACCTCTCCCGAGCCCCCAC	0.597																																						ENST00000292574.3																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(805-807)Cga>Tga		coiled-coil domain containing 105		C	stop/ARG	0,4406		0,0,2203	55.0	51.0	52.0		805	-1.6	0.2	19		52	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	CCDC105	NM_173482.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		269/500	15131402	1,13005	2203	4300	6503	SO:0001587	stop_gained	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15131402C>T	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.805C>T	19.37:g.15131402C>T	ENSP00000292574:p.Arg269*						p.R269*	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			3	887	+			269					Q8N7T5|Q8NDL5	Nonsense_Mutation	SNP	ENST00000292574.3	37	c.805C>T	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528521	0.64860	0.0	1.16E-4	ENSG00000160994	ENST00000292574	.	.	.	4.09	-1.59	0.08453	.	0.492673	0.16678	N	0.204050	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.9272	5.0347	0.14428	0.5189:0.3698:0.0:0.1113	.	.	.	.	X	269	.	ENSP00000292574:R269X	R	+	1	2	CCDC105	14992402	0.001000	0.12720	0.185000	0.23176	0.317000	0.28152	-0.171000	0.09883	-0.391000	0.07763	0.558000	0.71614	CGA		0.597	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		35	106	0	0	0	1	0	35	106				
SEMA3A	10371	broad.mit.edu	37	7	83764207	83764207	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:83764207T>C	ENST00000265362.4	-	2	487	c.173A>G	c.(172-174)cAt>cGt	p.H58R	SEMA3A_ENST00000436949.1_Missense_Mutation_p.H58R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	58	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						AAGGAAGGTATGATAACTGGA	0.388																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(172-174)cAt>cGt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							114.0	106.0	109.0					7																	83764207		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83764207T>C	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.173A>G	7.37:g.83764207T>C	ENSP00000265362:p.His58Arg					SEMA3A_ENST00000436949.1_Missense_Mutation_p.H58R	p.H58R	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			2	487	-			58			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.173A>G	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	t	6.858	0.527583	0.13127	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.20332	2.08;2.08;2.08	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.251915	0.47455	D	0.000223	T	0.12178	0.0296	N	0.12422	0.21	0.58432	D	0.999995	B	0.24132	0.098	B	0.31191	0.125	T	0.04537	-1.0944	10	0.02654	T	1	.	14.8712	0.70459	0.0:0.0:0.0:1.0	.	58	Q14563	SEM3A_HUMAN	R	58	ENSP00000265362:H58R;ENSP00000415260:H58R;ENSP00000391900:H58R	ENSP00000265362:H58R	H	-	2	0	SEMA3A	83602143	1.000000	0.71417	0.992000	0.48379	0.987000	0.75469	7.596000	0.82721	1.970000	0.57323	0.383000	0.25322	CAT		0.388	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		143	183	0	0	0	1	0	143	183				
RSPH6A	81492	broad.mit.edu	37	19	46307741	46307741	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:46307741C>T	ENST00000221538.3	-	3	1564	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P	RSPH6A_ENST00000597055.1_Silent_p.P474P|RSPH6A_ENST00000600188.1_Silent_p.P210P	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	474						intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCTCGTTGCCCGGGAAGGGTG	0.632																																						ENST00000221538.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						c.(1420-1422)ccG>ccA		radial spoke head 6 homolog A (Chlamydomonas)							73.0	60.0	65.0					19																	46307741		2203	4300	6503	SO:0001819	synonymous_variant	81492					intracellular		g.chr19:46307741C>T	AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1422G>A	19.37:g.46307741C>T						RSPH6A_ENST00000597055.1_Silent_p.P474P|RSPH6A_ENST00000600188.1_Silent_p.P210P	p.P474P	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN			3	1564	-			474					Q53FE2|Q6PEZ9	Silent	SNP	ENST00000221538.3	37	c.1422G>A	CCDS12675.1																																																																																				0.632	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461657.1			54	329	0	0	0	1	0	54	329				
POTEE	445582	broad.mit.edu	37	2	132021474	132021474	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:132021474C>T	ENST00000356920.5	+	15	2540	c.2446C>T	c.(2446-2448)Cgc>Tgc	p.R816C	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	816	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.R816C(1)									CAAGGCCAACCGCGAGAAGAT	0.612																																						ENST00000356920.5																			1	Substitution - Missense(1)	p.R816C(1)	endometrium(1)								c.(2446-2448)Cgc>Tgc		POTE ankyrin domain family, member E							76.0	79.0	78.0					2																	132021474		2132	4201	6333	SO:0001583	missense	445582						ATP binding	g.chr2:132021474C>T	AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.2446C>T	2.37:g.132021474C>T	ENSP00000439189:p.Arg816Cys					POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	p.R816C	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN			15	2540	+			816			Actin-like.		Q6S8J4|Q6S8J5|Q6S8J8	Missense_Mutation	SNP	ENST00000356920.5	37	c.2446C>T	CCDS46414.1	.	.	.	.	.	.	.	.	.	.	.	13.51	2.259391	0.39995	.	.	ENSG00000188219	ENST00000356920	D	0.97114	-4.25	.	.	.	Actin/actin-like conserved site (1);	.	.	.	.	D	0.98988	0.9655	H	0.99954	5.04	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.95089	0.8220	8	0.87932	D	0	.	2.8768	0.05634	0.4949:0.5045:2.0E-4:3.0E-4	.	816	Q6S8J3	POTEE_HUMAN	C	816	ENSP00000439189:R816C	ENSP00000439189:R816C	R	+	1	0	AC131180.1	131737944	1.000000	0.71417	0.221000	0.23827	0.224000	0.24922	3.183000	0.50918	0.119000	0.18210	0.121000	0.15741	CGC		0.612	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001083538		115	390	0	0	0	1	0	115	390				
MAP2	4133	broad.mit.edu	37	2	210574822	210574822	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:210574822G>A	ENST00000360351.4	+	12	5423	c.4917G>A	c.(4915-4917)ccG>ccA	p.P1639P	MAP2_ENST00000392194.1_Silent_p.P283P|MAP2_ENST00000361559.4_Silent_p.P283P|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000199940.6_Silent_p.P340P|MAP2_ENST00000447185.1_Silent_p.P1635P	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1639					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TCTTGGTGCCGAGTGAGAAGA	0.542																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(4915-4917)ccG>ccA		microtubule-associated protein 2	Estramustine(DB01196)						111.0	101.0	104.0					2																	210574822		2203	4300	6503	SO:0001819	synonymous_variant	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210574822G>A		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4917G>A	2.37:g.210574822G>A						MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Silent_p.P1635P|MAP2_ENST00000361559.4_Silent_p.P283P|MAP2_ENST00000199940.6_Silent_p.P340P|MAP2_ENST00000392194.1_Silent_p.P283P	p.P1639P	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	12	5423	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	1639					Q17S04|Q8IUX2|Q99975|Q99976	Silent	SNP	ENST00000360351.4	37	c.4917G>A	CCDS2384.1																																																																																				0.542	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		5	264	0	0	0	1	0	5	264				
AQP4	361	broad.mit.edu	37	18	24436417	24436417	+	Missense_Mutation	SNP	C	C	T	rs374302276		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr18:24436417C>T	ENST00000383168.4	-	5	858	c.730G>A	c.(730-732)Gct>Act	p.A244T	AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.A222T|AQP4_ENST00000440832.3_Missense_Mutation_p.A222T|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	244					carbon dioxide transport (GO:0015670)|cellular response to estradiol stimulus (GO:0071392)|cellular response to interferon-gamma (GO:0071346)|female pregnancy (GO:0007565)|hyperosmotic salinity response (GO:0042538)|multicellular organismal water homeostasis (GO:0050891)|protein homooligomerization (GO:0051260)|renal water absorption (GO:0070295)|response to glucocorticoid (GO:0051384)|response to radiation (GO:0009314)|sensory perception of sound (GO:0007605)|transmembrane transport (GO:0055085)|transport (GO:0006810)|water transport (GO:0006833)	basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)	porin activity (GO:0015288)|water channel activity (GO:0015250)|water transmembrane transporter activity (GO:0005372)			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AGGCCACCAGCGAGGACAGCT	0.433																																						ENST00000383168.4																			0				kidney(2)|large_intestine(3)|lung(5)|skin(1)	11						c.(730-732)Gct>Act		aquaporin 4		C	THR/ALA,THR/ALA	0,4406		0,0,2203	83.0	82.0	82.0		730,664	5.8	1.0	18		82	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	AQP4	NM_001650.4,NM_004028.3	58,58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	probably-damaging,probably-damaging	244/324,222/302	24436417	2,13004	2203	4300	6503	SO:0001583	missense	361				cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity	g.chr18:24436417C>T	U63622	CCDS11889.1, CCDS58617.1	18q11.2-q12.1	2005-09-20			ENSG00000171885	ENSG00000171885		"""Ion channels / Aquaporins"""	637	protein-coding gene	gene with protein product		600308				7528931	Standard	NM_001650		Approved	MIWC	uc002kwa.3	P55087	OTTHUMG00000131955	ENST00000383168.4:c.730G>A	18.37:g.24436417C>T	ENSP00000372654:p.Ala244Thr					AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000583022.1_5'UTR|AQP4_ENST00000440832.3_Missense_Mutation_p.A222T|AQP4_ENST00000581374.1_Missense_Mutation_p.A222T	p.A244T	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN			5	858	-	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)		244					P78564	Missense_Mutation	SNP	ENST00000383168.4	37	c.730G>A	CCDS11889.1	.	.	.	.	.	.	.	.	.	.	C	35	5.463024	0.96257	0.0	2.33E-4	ENSG00000171885	ENST00000383168;ENST00000440832;ENST00000383170	D	0.96265	-3.96	5.84	5.84	0.93424	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.98220	0.9411	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.68943	0.961	D	0.98652	1.0680	10	0.87932	D	0	.	20.1535	0.98095	0.0:1.0:0.0:0.0	.	244	P55087	AQP4_HUMAN	T	244;224;140	ENSP00000372654:A244T	ENSP00000372654:A244T	A	-	1	0	AQP4	22690415	1.000000	0.71417	0.966000	0.40874	0.958000	0.62258	7.263000	0.78421	2.764000	0.94973	0.650000	0.86243	GCT		0.433	AQP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254914.2	NM_001650, NM_004028		91	233	0	0	0	1	0	91	233				
UBBP4	23666	broad.mit.edu	37	17	21730847	21730847	+	Missense_Mutation	SNP	G	G	T	rs570609187	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:21730847G>T	ENST00000578713.1	+	1	153	c.149G>T	c.(148-150)cGg>cTg	p.R50L	UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000584755.1_Missense_Mutation_p.R50L|UBBP4_ENST00000583708.1_Intron					ubiquitin B pseudogene 4											endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						GGCAAGCAGCGGGAAGATGGC	0.522													.|||	3	0.000599042	0.0008	0.0	5008	,	,		21142	0.002		0.0	False		,,,				2504	0.0					ENST00000584755.1																			0				endometrium(9)|kidney(4)|lung(4)|prostate(3)|urinary_tract(4)	24						c.(148-150)cGg>cTg																																						SO:0001583	missense	0							g.chr17:21730847G>T	X07499		17p11.2	2011-08-10				ENSG00000263563			12467	pseudogene	pseudogene						2834222	Standard	NG_002285		Approved		uc002gyy.3			ENST00000578713.1:c.149G>T	17.37:g.21730847G>T	ENSP00000464265:p.Arg50Leu					UBBP4_ENST00000583708.1_Intron|UBBP4_ENST00000584398.1_Intron|UBBP4_ENST00000578713.1_Missense_Mutation_p.R50L	p.R50L							2	546	+									Missense_Mutation	SNP	ENST00000578713.1	37	c.149G>T																																																																																					0.522	UBBP4-004	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000444589.2			4	159	1	0	0.00116845	1	0.00118719	4	159				
LINC00969	440993	broad.mit.edu	37	3	195410640	195410640	+	lincRNA	SNP	T	T	C	rs6583273	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:195410640T>C	ENST00000445430.1	+	0	1837									long intergenic non-protein coding RNA 969																		TTGATGAGTATGATCACTCCA	0.468																																						ENST00000445430.1																			0																																																			0							g.chr3:195410640T>C	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.195410640T>C														0	1837	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.468	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			4	71	0	0	0	1	0	4	71				
CENPJ	55835	broad.mit.edu	37	13	25466782	25466782	+	Splice_Site	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:25466782G>A	ENST00000381884.4	-	10	3400	c.3215C>T	c.(3214-3216)gCg>gTg	p.A1072V	CENPJ_ENST00000545981.1_Splice_Site_p.A1072V	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1072					cell division (GO:0051301)|centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|microtubule polymerization (GO:0046785)|mitotic cell cycle (GO:0000278)|regulation of centriole replication (GO:0046599)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin small complex (GO:0008275)|microtubule (GO:0005874)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)|tubulin binding (GO:0015631)			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CCTGCCTACCGCAAGCTTGTC	0.522																																						ENST00000381884.4																			0				endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.e10+1		centromere protein J							124.0	117.0	120.0					13																	25466782		2203	4300	6503	SO:0001630	splice_region_variant	55835				cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding	g.chr13:25466782G>A	AF139625	CCDS9310.1	13q12.12	2013-11-05			ENSG00000151849	ENSG00000151849			17272	protein-coding gene	gene with protein product	"""centrosomal P4.1-associated protein"""	609279	"""microcephaly, primary autosomal recessive 6"""	MCPH6		11003675, 22699936	Standard	NM_018451		Approved	CPAP, BM032, LAP, LIP1, Sas-4, SASS4, SCKL4	uc001upt.5	Q9HC77	OTTHUMG00000016595	ENST00000381884.4:c.3216+1C>T	13.37:g.25466782G>A						CENPJ_ENST00000545981.1_Splice_Site_p.A1072_splice	p.A1072_splice	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)	10	3400	-		Lung SC(185;0.0225)|Breast(139;0.0602)	1072					Q2KHM6|Q5JPD5|Q5T6R5|Q96KS5|Q9C067	Splice_Site	SNP	ENST00000381884.4	37	c.3216_splice	CCDS9310.1	.	.	.	.	.	.	.	.	.	.	G	3.659	-0.070010	0.07228	.	.	ENSG00000151849	ENST00000381884;ENST00000545981;ENST00000445729	T;T	0.34667	1.35;1.82	4.42	0.612	0.17591	.	1.551700	0.03144	N	0.167020	T	0.19208	0.0461	N	0.08118	0	0.09310	N	1	B;B	0.13594	0.008;0.005	B;B	0.11329	0.006;0.003	T	0.15122	-1.0448	10	0.31617	T	0.26	.	3.6362	0.08150	0.5195:0.0:0.3135:0.1669	.	153;1072	Q5T6R6;Q9HC77	.;CENPJ_HUMAN	V	1072	ENSP00000371308:A1072V;ENSP00000441090:A1072V	ENSP00000371308:A1072V	A	-	2	0	CENPJ	24364782	0.001000	0.12720	0.342000	0.25602	0.003000	0.03518	-0.331000	0.07914	0.206000	0.20587	-0.391000	0.06502	GCG		0.522	CENPJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044209.1	NM_018451	Missense_Mutation	84	400	0	0	0	1	0	84	400				
STXBP5L	9515	broad.mit.edu	37	3	120959317	120959317	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:120959317C>A	ENST00000273666.6	+	14	1634	c.1363C>A	c.(1363-1365)Ctt>Att	p.L455I	STXBP5L_ENST00000492541.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000497029.1_Missense_Mutation_p.L455I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	455					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCTTGGAACCTTGGAGCACA	0.323																																						ENST00000273666.6																			0				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68						c.(1363-1365)Ctt>Att		syntaxin binding protein 5-like							90.0	88.0	89.0					3																	120959317		1825	4080	5905	SO:0001583	missense	9515				exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		g.chr3:120959317C>A	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1363C>A	3.37:g.120959317C>A	ENSP00000273666:p.Leu455Ile					STXBP5L_ENST00000497029.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000471454.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000472879.1_Missense_Mutation_p.L455I|STXBP5L_ENST00000492541.1_Missense_Mutation_p.L455I	p.L455I	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN		GBM - Glioblastoma multiforme(114;0.0694)	14	1634	+			455					Q4G1B4|Q6PIC3	Missense_Mutation	SNP	ENST00000273666.6	37	c.1363C>A	CCDS43137.1	.	.	.	.	.	.	.	.	.	.	C	10.67	1.416075	0.25552	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.63096	1.59;-0.02;0.56;0.56;-0.02;-0.02	5.21	0.825	0.18824	WD40 repeat-like-containing domain (2);	0.346259	0.27214	N	0.020399	T	0.52693	0.1750	L	0.55103	1.725	0.47737	D	0.999504	B;B	0.16603	0.018;0.01	B;B	0.19148	0.024;0.021	T	0.46978	-0.9152	10	0.37606	T	0.19	-8.1379	10.0091	0.41975	0.3776:0.554:0.0:0.0684	.	455;455	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	I	455	ENSP00000273666:L455I;ENSP00000420019:L455I;ENSP00000419627:L455I;ENSP00000420287:L455I;ENSP00000420666:L455I;ENSP00000420167:L455I	ENSP00000273666:L455I	L	+	1	0	STXBP5L	122442007	0.232000	0.23762	0.997000	0.53966	0.892000	0.51952	0.713000	0.25794	0.297000	0.22615	-0.397000	0.06425	CTT		0.323	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355256.3			6	300	1	0	0.0293803	1	0.0293803	6	300				
OR4F6	390648	broad.mit.edu	37	15	102345944	102345944	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:102345944G>A	ENST00000328882.4	+	1	43	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			CAATCACTCTGTGGTCTCTGA	0.473																																						ENST00000328882.4																			0				breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(22-24)Gtg>Atg		olfactory receptor, family 4, subfamily F, member 6							133.0	121.0	125.0					15																	102345944		2203	4300	6503	SO:0001583	missense	390648				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr15:102345944G>A	AC025234	CCDS32341.1	15q26.3	2014-02-19	2002-02-28		ENSG00000184140	ENSG00000184140		"""GPCR / Class A : Olfactory receptors"""	15372	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily F, member 12"""	OR4F12			Standard	NM_001005326		Approved		uc010utr.2	Q8NGB9	OTTHUMG00000172267	ENST00000328882.4:c.22G>A	15.37:g.102345944G>A	ENSP00000327525:p.Val8Met						p.V8M	NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)		1	43	+	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		8					B9EH28|Q6IF95	Missense_Mutation	SNP	ENST00000328882.4	37	c.22G>A	CCDS32341.1	.	.	.	.	.	.	.	.	.	.	.	7.495	0.651526	0.14516	.	.	ENSG00000184140	ENST00000328882	T	0.20069	2.1	4.68	0.44	0.16572	.	0.780148	0.10877	N	0.624199	T	0.17365	0.0417	L	0.46670	1.46	0.24977	N	0.991629	B	0.25351	0.124	B	0.25405	0.06	T	0.26326	-1.0106	10	0.38643	T	0.18	.	6.7176	0.23312	0.4434:0.0:0.5566:0.0	.	8	Q8NGB9	OR4F6_HUMAN	M	8	ENSP00000327525:V8M	ENSP00000327525:V8M	V	+	1	0	OR4F6	100163467	0.000000	0.05858	0.314000	0.25224	0.168000	0.22595	0.041000	0.13927	-0.002000	0.14469	0.591000	0.81541	GTG		0.473	OR4F6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417593.1			86	232	0	0	0	1	0	86	232				
LCE2C	353140	broad.mit.edu	37	1	152648628	152648628	+	Missense_Mutation	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152648628C>A	ENST00000368783.1	+	2	192	c.137C>A	c.(136-138)tCt>tAt	p.S46Y	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	46	Cys-rich.				keratinization (GO:0031424)					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCAGTCTCTTCTTGCTGTGGT	0.627																																						ENST00000368783.1																			0				endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13						c.(136-138)tCt>tAt		late cornified envelope 2C							123.0	131.0	129.0					1																	152648628		2203	4300	6503	SO:0001583	missense	353140				keratinization			g.chr1:152648628C>A		CCDS1019.1	1q21.3	2008-02-05			ENSG00000187180	ENSG00000187180		"""Late cornified envelopes"""	29460	protein-coding gene	gene with protein product		612611				11698679	Standard	NM_178429		Approved	LEP11	uc001fah.4	Q5TA81	OTTHUMG00000012389	ENST00000368783.1:c.137C>A	1.37:g.152648628C>A	ENSP00000357772:p.Ser46Tyr					LCE2B_ENST00000417924.2_Intron	p.S46Y	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	192	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		46			Cys-rich.			Missense_Mutation	SNP	ENST00000368783.1	37	c.137C>A	CCDS1019.1	.	.	.	.	.	.	.	.	.	.	C	1.426	-0.571575	0.03882	.	.	ENSG00000187180	ENST00000368783	T	0.06218	3.33	3.39	0.0799	0.14418	.	.	.	.	.	T	0.02727	0.0082	M	0.79805	2.47	0.09310	N	1	P	0.47910	0.902	B	0.35413	0.202	T	0.33523	-0.9865	9	0.87932	D	0	.	5.4015	0.16299	0.0:0.4654:0.4079:0.1267	.	46	Q5TA81	LCE2C_HUMAN	Y	46	ENSP00000357772:S46Y	ENSP00000357772:S46Y	S	+	2	0	LCE2C	150915252	0.023000	0.18921	0.264000	0.24511	0.299000	0.27559	0.291000	0.18994	-0.081000	0.12662	0.563000	0.77884	TCT		0.627	LCE2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034509.1	NM_178429		190	857	1	0	7.09894e-72	1	7.57752e-72	190	857				
TXNDC2	84203	broad.mit.edu	37	18	9887074	9887074	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr18:9887074G>A	ENST00000306084.6	+	2	797	c.598G>A	c.(598-600)Gaa>Aaa	p.E200K	TXNDC2_ENST00000357775.5_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	200	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCTCAGAAGAAGCCATCCA	0.577																																						ENST00000306084.6																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						c.(598-600)Gaa>Aaa		thioredoxin domain containing 2 (spermatozoa)							152.0	154.0	153.0					18																	9887074		2203	4300	6503	SO:0001583	missense	0				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity	g.chr18:9887074G>A	AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.598G>A	18.37:g.9887074G>A	ENSP00000304908:p.Glu200Lys					TXNDC2_ENST00000357775.4_Missense_Mutation_p.E133K|TXNDC2_ENST00000536353.2_Intron	p.E200K	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN			2	797	+			200			22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	ENST00000306084.6	37	c.598G>A	CCDS42414.1	.	.	.	.	.	.	.	.	.	.	g	1.272	-0.612710	0.03690	.	.	ENSG00000168454	ENST00000357775;ENST00000306084;ENST00000426718	T;T	0.16457	2.34;2.34	3.48	-6.08	0.02151	.	1.613580	0.03995	N	0.295530	T	0.05456	0.0144	N	0.02539	-0.55	0.09310	N	1	B	0.18013	0.025	B	0.11329	0.006	T	0.34204	-0.9838	9	.	.	.	-1.8327	6.0796	0.19935	0.4735:0.3503:0.1761:0.0	.	200	Q86VQ3	TXND2_HUMAN	K	133;200;200	ENSP00000350419:E133K;ENSP00000304908:E200K	.	E	+	1	0	TXNDC2	9877074	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.583000	0.00904	-0.859000	0.04105	-0.300000	0.09419	GAA		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254487.1			11	680	0	0	0	1	0	11	680				
OR2L8	391190	broad.mit.edu	37	1	248112943	248112943	+	Silent	SNP	A	A	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248112943A>C	ENST00000357191.3	+	1	784	c.784A>C	c.(784-786)Aga>Cga	p.R262R	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	262						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TCTACGTCCAAGATCCCTGCG	0.483																																						ENST00000357191.3																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42						c.(784-786)Aga>Cga		olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)							120.0	91.0	101.0					1																	248112943		2203	4297	6500	SO:0001819	synonymous_variant	391190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248112943A>C	BK004459	CCDS31101.1	1q44	2013-10-10	2013-10-10		ENSG00000196936	ENSG00000196936		"""GPCR / Class A : Olfactory receptors"""	15014	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily L, member 8"""				Standard	NM_001001963		Approved		uc001idt.1	Q8NGY9	OTTHUMG00000040196	ENST00000357191.3:c.784A>C	1.37:g.248112943A>C						OR2L13_ENST00000366478.2_Intron	p.R262R	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0152)		1	784	+	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		262					Q6IF03	Silent	SNP	ENST00000357191.3	37	c.784A>C	CCDS31101.1																																																																																				0.483	OR2L8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096853.2			81	291	0	0	0	1	0	81	291				
TRH	7200	broad.mit.edu	37	3	129696025	129696025	+	Missense_Mutation	SNP	G	G	A	rs199889071	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:129696025G>A	ENST00000302649.3	+	3	1222	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	TRH_ENST00000507066.1_Missense_Mutation_p.R228Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	232					adult walking behavior (GO:0007628)|cell-cell signaling (GO:0007267)|eating behavior (GO:0042755)|histamine metabolic process (GO:0001692)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of feeding behavior (GO:2000252)|negative regulation of glutamate secretion (GO:0014050)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of insulin secretion (GO:0032024)|response to cold (GO:0009409)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	thyrotropin-releasing hormone activity (GO:0008437)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCTGGTCGGCGGGCAGCCTGG	0.617													g|||	54	0.0107827	0.0	0.0	5008	,	,		13422	0.002		0.0	False		,,,				2504	0.0532				Esophageal Squamous(60;321 1330 17401 41911)	ENST00000302649.3																			0				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						c.(694-696)cGg>cAg		thyrotropin-releasing hormone		G	GLN/ARG	1,4397		0,1,2198	20.0	21.0	21.0		695	3.5	0.0	3		21	1,8547		0,1,4273	yes	missense	TRH	NM_007117.3	43	0,2,6471	AA,AG,GG		0.0117,0.0227,0.0154	possibly-damaging	232/243	129696025	2,12944	2199	4274	6473	SO:0001583	missense	7200				cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	g.chr3:129696025G>A		CCDS3066.1	3q13.3-q21	2013-02-28				ENSG00000170893		"""Endogenous ligands"""	12298	protein-coding gene	gene with protein product	"""prothyroliberin"""	613879				2126343, 1900134	Standard	NM_007117		Approved		uc003enc.4	P20396		ENST00000302649.3:c.695G>A	3.37:g.129696025G>A	ENSP00000303452:p.Arg232Gln					TRH_ENST00000507066.1_Missense_Mutation_p.R228Q	p.R232Q	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN			3	1222	+			232					B2R8R1|Q2TB83	Missense_Mutation	SNP	ENST00000302649.3	37	c.695G>A	CCDS3066.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.889	0.953444	0.18431	2.27E-4	1.17E-4	ENSG00000170893	ENST00000302649;ENST00000507066	T;T	0.56941	0.44;0.43	4.42	3.51	0.40186	.	0.302445	0.35013	N	0.003517	T	0.40171	0.1106	L	0.49126	1.545	0.09310	N	0.999999	P	0.48640	0.913	B	0.35240	0.198	T	0.40831	-0.9542	10	0.56958	D	0.05	-6.4951	9.4211	0.38553	0.0:0.0:0.7781:0.2219	.	232	P20396	TRH_HUMAN	Q	232;228	ENSP00000303452:R232Q;ENSP00000426522:R228Q	ENSP00000303452:R232Q	R	+	2	0	TRH	131178715	0.660000	0.27420	0.018000	0.16275	0.005000	0.04900	1.356000	0.34079	1.146000	0.42352	0.563000	0.77884	CGG		0.617	TRH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356592.1	NM_007117		38	151	0	0	0	1	0	38	151				
DHRS2	10202	broad.mit.edu	37	14	24108419	24108419	+	Missense_Mutation	SNP	C	C	T	rs74036809		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:24108419C>T	ENST00000250383.6	+	3	648	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	DHRS2_ENST00000344777.7_Missense_Mutation_p.R58W|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	58					C21-steroid hormone metabolic process (GO:0008207)|cellular response to oxidative stress (GO:0034599)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|response to toxic substance (GO:0009636)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	carbonyl reductase (NADPH) activity (GO:0004090)			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ACGTCTGGCCCGGGACGGGGC	0.642													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16784	0.0		0.0	False		,,,				2504	0.0					ENST00000250383.6																			0				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(172-174)Cgg>Tgg		dehydrogenase/reductase (SDR family) member 2							76.0	83.0	81.0					14																	24108419		2203	4300	6503	SO:0001583	missense	10202				C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity	g.chr14:24108419C>T		CCDS9604.1, CCDS41927.1	14q11.2	2011-09-14			ENSG00000100867	ENSG00000100867		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18349	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 1"""	615194				7556196, 11944995, 16685466, 19027726	Standard	NM_182908		Approved	HEP27, SDR25C1	uc001wkt.4	Q13268	OTTHUMG00000028771	ENST00000250383.6:c.172C>T	14.37:g.24108419C>T	ENSP00000250383:p.Arg58Trp					DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.R58W	p.R58W	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN		GBM - Glioblastoma multiforme(265;0.00659)	3	648	+			36	L -> V (in Ref. 6; AA sequence).				D3DS54|Q53GS4|Q7Z789|Q9H2R2	Missense_Mutation	SNP	ENST00000250383.6	37	c.172C>T	CCDS9604.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	.	13.16	2.155684	0.38021	.	.	ENSG00000100867	ENST00000432832;ENST00000250383;ENST00000344777	T;T;T	0.45276	0.9;0.9;0.9	4.91	0.99	0.19807	NAD(P)-binding domain (1);	0.667396	0.15085	N	0.281419	T	0.52435	0.1734	M	0.78285	2.405	0.22591	N	0.998957	D;D;D;P	0.69078	0.991;0.978;0.997;0.875	P;P;P;B	0.56648	0.773;0.773;0.803;0.193	T	0.43782	-0.9370	10	0.87932	D	0	.	5.0764	0.14634	0.2895:0.5478:0.0:0.1626	.	36;58;58;36	Q13268;C9JZP6;D3DS54;Q13268-2	DHRS2_HUMAN;.;.;.	W	58	ENSP00000401213:R58W;ENSP00000250383:R58W;ENSP00000344674:R58W	ENSP00000250383:R58W	R	+	1	2	DHRS2	23178259	0.112000	0.22096	0.511000	0.27724	0.002000	0.02628	0.432000	0.21461	0.007000	0.14760	-0.350000	0.07774	CGG		0.642	DHRS2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000071842.2	NM_182908		156	577	0	0	0	1	0	156	577				
SIGLEC6	946	broad.mit.edu	37	19	52023419	52023419	+	Missense_Mutation	SNP	C	C	T	rs200754981		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52023419C>T	ENST00000425629.3	-	8	1433	c.1279G>A	c.(1279-1281)Gct>Act	p.A427T	SIGLEC6_ENST00000474054.1_5'UTR|CTD-3073N11.9_ENST00000598220.1_RNA|SIGLEC6_ENST00000343300.4_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000346477.3_Missense_Mutation_p.A411T|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A375T	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	427					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGTAGGACAGCGTAGTGGAGC	0.507																																						ENST00000346477.3																			0				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28						c.(1231-1233)Gct>Act		sialic acid binding Ig-like lectin 6		C	THR/ALA,,,THR/ALA,THR/ALA,	0,4008		0,0,2004	212.0	204.0	207.0		1123,,,1279,1231,	2.6	0.0	19		207	5,8373		0,5,4184	yes	missense,utr-3,utr-3,missense,missense,utr-3	SIGLEC6	NM_001177547.1,NM_001177548.1,NM_001177549.1,NM_001245.5,NM_198845.4,NM_198846.4	58,,,58,58,	0,5,6188	TT,TC,CC		0.0597,0.0,0.0404	benign,,,benign,benign,	375/402,,,427/454,411/438,	52023419	5,12381	2004	4189	6193	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52023419C>T	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.1279G>A	19.37:g.52023419C>T	ENSP00000401502:p.Ala427Thr					SIGLEC6_ENST00000425629.3_Missense_Mutation_p.A427T|SIGLEC6_ENST00000474054.1_5'UTR|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.A375T|SIGLEC6_ENST00000391797.3_3'UTR|SIGLEC6_ENST00000359982.4_3'UTR|SIGLEC6_ENST00000343300.4_3'UTR|CTD-3073N11.9_ENST00000598220.1_RNA	p.A411T	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	7	1299	-		all_neural(266;0.0199)	427					A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.1231G>A	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	.	12.92	2.081368	0.36758	0.0	5.97E-4	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000436458	T;T	0.09630	2.96;2.96	2.57	2.57	0.30868	.	.	.	.	.	T	0.33206	0.0855	M	0.84948	2.725	0.09310	N	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.955;0.994;0.955	T	0.03212	-1.1060	9	0.87932	D	0	.	8.7521	0.34622	0.0:1.0:0.0:0.0	.	375;411;427	C9JBE5;O43699-3;O43699	.;.;SIGL6_HUMAN	T	400;411;427;375	ENSP00000401502:A427T;ENSP00000410679:A375T	ENSP00000344064:A400T	A	-	1	0	SIGLEC6	56715231	0.165000	0.22948	0.028000	0.17463	0.009000	0.06853	1.102000	0.31050	1.726000	0.51525	0.609000	0.83330	GCT		0.507	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245		503	572	0	0	0	1	0	503	572				
NPHS2	7827	broad.mit.edu	37	1	179530445	179530445	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:179530445G>T	ENST00000367615.4	-	3	498	c.430C>A	c.(430-432)Cct>Act	p.P144T	NPHS2_ENST00000367616.4_Missense_Mutation_p.P144T	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	144					actin cytoskeleton reorganization (GO:0031532)|excretion (GO:0007588)|metanephric glomerular visceral epithelial cell development (GO:0072249)	cell-cell junction (GO:0005911)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|slit diaphragm (GO:0036057)				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCTCTTCCAGGAAGCAGATGT	0.373																																						ENST00000367615.4																			0				NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						c.(430-432)Cct>Act		nephrosis 2, idiopathic, steroid-resistant (podocin)							142.0	160.0	154.0					1																	179530445		2203	4300	6503	SO:0001583	missense	7827				excretion	integral to plasma membrane	protein binding	g.chr1:179530445G>T	AJ279254	CCDS1331.1, CCDS72988.1	1q25-q31	2014-06-27			ENSG00000116218	ENSG00000116218			13394	protein-coding gene	gene with protein product		604766				8589695, 10742096	Standard	XM_005245483		Approved	SRN1, PDCN	uc001gmq.4	Q9NP85	OTTHUMG00000035252	ENST00000367615.4:c.430C>A	1.37:g.179530445G>T	ENSP00000356587:p.Pro144Thr					NPHS2_ENST00000367616.4_Missense_Mutation_p.P144T	p.P144T	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN			3	498	-			144					B1AM32|B1AM33|Q8N6Q5	Missense_Mutation	SNP	ENST00000367615.4	37	c.430C>A	CCDS1331.1	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794586	0.50102	.	.	ENSG00000116218	ENST00000367615;ENST00000367616	D;D	0.99607	-6.27;-6.27	5.82	5.82	0.92795	.	0.210004	0.44097	D	0.000495	D	0.99140	0.9703	L	0.43923	1.385	0.38352	D	0.944353	D;D	0.59767	0.986;0.985	P;P	0.60886	0.88;0.844	D	0.98710	1.0704	10	0.54805	T	0.06	-18.3363	12.0534	0.53520	0.0787:0.0:0.9213:0.0	.	144;144	Q9NP85-2;Q9NP85	.;PODO_HUMAN	T	144	ENSP00000356587:P144T;ENSP00000356588:P144T	ENSP00000356587:P144T	P	-	1	0	NPHS2	177797068	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.032000	0.41127	2.765000	0.95021	0.650000	0.86243	CCT		0.373	NPHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085283.1			364	538	1	0	1.84265e-150	1	1.97799e-150	364	538				
OR2L2	26246	broad.mit.edu	37	1	248202362	248202362	+	Nonsense_Mutation	SNP	C	C	T	rs546778867		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:248202362C>T	ENST00000366479.2	+	1	889	c.793C>T	c.(793-795)Cga>Tga	p.R265*	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	265						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AAGATCCCTGCGATCTCCAAC	0.498													c|||	1	0.000199681	0.0	0.0014	5008	,	,		19946	0.0		0.0	False		,,,				2504	0.0					ENST00000366479.2																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42						c.(793-795)Cga>Tga		olfactory receptor, family 2, subfamily L, member 2							138.0	125.0	130.0					1																	248202362		2203	4300	6503	SO:0001587	stop_gained	26246				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248202362C>T	X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.793C>T	1.37:g.248202362C>T	ENSP00000355435:p.Arg265*					OR2L13_ENST00000366478.2_Intron	p.R265*	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	889	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		265					Q2M3T5	Nonsense_Mutation	SNP	ENST00000366479.2	37	c.793C>T	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	16.24	3.067941	0.55539	.	.	ENSG00000203663	ENST00000366479	.	.	.	1.9	0.911	0.19343	.	0.000000	0.27636	U	0.018492	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	3.04	0.06135	0.243:0.5305:0.0:0.2264	.	.	.	.	X	265	.	ENSP00000355435:R265X	R	+	1	2	OR2L2	246268985	0.000000	0.05858	0.000000	0.03702	0.207000	0.24258	-2.234000	0.01203	0.005000	0.14708	0.194000	0.17425	CGA		0.498	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1	NM_001004686		91	336	0	0	0	1	0	91	336				
SH3TC2	79628	broad.mit.edu	37	5	148424197	148424197	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr5:148424197A>T	ENST00000515425.1	-	4	385	c.284T>A	c.(283-285)cTc>cAc	p.L95H	SH3TC2_ENST00000512049.1_Missense_Mutation_p.L95H|SH3TC2_ENST00000394358.2_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	95					cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTGCTGAGAGGTCCTACGT	0.438																																						ENST00000515425.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39						c.(283-285)cTc>cAc		SH3 domain and tetratricopeptide repeats 2							91.0	78.0	82.0					5																	148424197		2203	4300	6503	SO:0001583	missense	79628						binding	g.chr5:148424197A>T	AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.284T>A	5.37:g.148424197A>T	ENSP00000423660:p.Leu95His					SH3TC2_ENST00000394358.2_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.L95H	p.L95H	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		4	385	-			95					B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Missense_Mutation	SNP	ENST00000515425.1	37	c.284T>A	CCDS4293.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.360433	0.61403	.	.	ENSG00000169247	ENST00000515425;ENST00000512049	D;D	0.90069	-2.56;-2.61	5.92	5.92	0.95590	.	0.085133	0.46758	D	0.000280	D	0.93973	0.8070	M	0.74647	2.275	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.94506	0.7714	10	0.87932	D	0	.	14.5824	0.68300	1.0:0.0:0.0:0.0	.	95;95	Q14CC0;Q8TF17	.;S3TC2_HUMAN	H	95	ENSP00000423660:L95H;ENSP00000421860:L95H	ENSP00000313025:L95H	L	-	2	0	SH3TC2	148404390	1.000000	0.71417	1.000000	0.80357	0.210000	0.24377	7.355000	0.79434	2.255000	0.74692	0.533000	0.62120	CTC		0.438	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252186.2	NM_024577		87	78	0	0	0	1	0	87	78				
LOC645752	645752	broad.mit.edu	37	15	78211548	78211548	+	lincRNA	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:78211548T>C	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA|RN7SL214P_ENST00000487317.2_RNA																							CCACCTGGGATTGGAGCTTTC	0.562																																						ENST00000565869.1																			0																																																			0							g.chr15:78211548T>C																													15.37:g.78211548T>C						RP11-114H24.2_ENST00000567226.1_RNA								0	111	+									RNA	SNP	ENST00000565869.1	37																																																																																						0.562	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			6	547	0	0	0	1	0	6	547				
TCHH	7062	broad.mit.edu	37	1	152082565	152082565	+	Missense_Mutation	SNP	A	A	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152082565A>C	ENST00000368804.1	-	2	3127	c.3128T>G	c.(3127-3129)cTc>cGc	p.L1043R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1043	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)	p.L1043R(1)		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)			CCGCTCCTGGAGTCTTCTTTT	0.592																																						ENST00000368804.1																			1	Substitution - Missense(1)	p.L1043R(1)	lung(1)	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.(3127-3129)cTc>cGc		trichohyalin							121.0	124.0	123.0					1																	152082565		1956	4131	6087	SO:0001583	missense	7062				keratinization	cytoskeleton	calcium ion binding	g.chr1:152082565A>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.3128T>G	1.37:g.152082565A>C	ENSP00000357794:p.Leu1043Arg						p.L1043R	NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	3127	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1043			10 X 30 AA tandem repeats.		Q5VUI3	Missense_Mutation	SNP	ENST00000368804.1	37	c.3128T>G	CCDS41396.1	.	.	.	.	.	.	.	.	.	.	C	5.617	0.298639	0.10622	.	.	ENSG00000159450	ENST00000368804	T	0.05025	3.51	3.32	2.39	0.29439	.	.	.	.	.	T	0.00608	0.0020	N	0.01168	-0.975	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45556	-0.9253	9	0.14252	T	0.57	.	9.3484	0.38122	0.5564:0.4436:0.0:0.0	.	1043	Q07283	TRHY_HUMAN	R	1043	ENSP00000357794:L1043R	ENSP00000357794:L1043R	L	-	2	0	TCHH	150349189	0.000000	0.05858	0.007000	0.13788	0.087000	0.18053	-5.896000	0.00092	-0.005000	0.14395	-2.437000	0.00212	CTC		0.592	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036671.2	NM_007113		11	1116	0	0	0	1	0	11	1116				
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs374686280		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3		Q8NHM4	TRY6_HUMAN	protease, serine, 3 pseudogene 2						endothelial cell migration (GO:0043542)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)										ACTACCCAGATGAGCTGCAGT	0.488																																						ENST00000603901.1																			0																																																			0							g.chr7:142481789T>C			7q34	2012-03-06			ENSG00000250606	ENSG00000275896			43788	pseudogene	pseudogene	"""trypsinogen C"""						Standard	NR_001296		Approved	TRY6	uc011ksq.2	Q8NHM4	OTTHUMG00000158904		7.37:g.142481789T>C								NR_001296.3						0	468	+									RNA	SNP	ENST00000603901.1	37																																																																																						0.488	PRSS3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470000.1	NR_001296		9	617	0	0	0	1	0	9	617				
GUCY2D	3000	broad.mit.edu	37	17	7917216	7917216	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:7917216G>A	ENST00000254854.4	+	12	2432	c.2282G>A	c.(2281-2283)cGg>cAg	p.R761Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	761	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				CAGAGGGTGCGGAGCCCCCCT	0.622																																						ENST00000254854.4																			0				skin(1)	1						c.(2281-2283)cGg>cAg		guanylate cyclase 2D, membrane (retina-specific)							76.0	78.0	78.0					17																	7917216		2203	4300	6503	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7917216G>A	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2282G>A	17.37:g.7917216G>A	ENSP00000254854:p.Arg761Gln						p.R761Q	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			12	2432	+		Prostate(122;0.157)	761			Protein kinase.		Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.2282G>A	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.109704	0.37242	.	.	ENSG00000132518	ENST00000254854	D	0.82619	-1.63	5.44	-5.28	0.02755	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.898770	0.09283	N	0.823427	T	0.71745	0.3376	L	0.48642	1.525	0.09310	N	1	B	0.19583	0.037	B	0.13407	0.009	T	0.58405	-0.7642	10	0.45353	T	0.12	.	5.9913	0.19465	0.447:0.0:0.3698:0.1832	.	761	Q02846	GUC2D_HUMAN	Q	761	ENSP00000254854:R761Q	ENSP00000254854:R761Q	R	+	2	0	GUCY2D	7857941	0.000000	0.05858	0.462000	0.27118	0.976000	0.68499	-0.284000	0.08422	-0.603000	0.05767	-0.345000	0.07892	CGG		0.622	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			6	370	0	0	0	1	0	6	370				
SPRR3	6707	broad.mit.edu	37	1	152975691	152975691	+	Silent	SNP	C	C	T	rs201771127		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152975691C>T	ENST00000295367.4	+	2	237	c.195C>T	c.(193-195)ggC>ggT	p.G65G	SPRR3_ENST00000542696.1_Silent_p.G65G|SPRR3_ENST00000331860.3_Silent_p.G65G	NM_001097589.1	NP_001091058.1	Q9UBC9	SPRR3_HUMAN	small proline-rich protein 3	65	14 X 8 AA approximate tandem repeats.			Missing (in Ref. 2; no nucleotide entry, 4; CAB65098 and 9; AAH17802). {ECO:0000305}.	epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	structural molecule activity (GO:0005198)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGAGCCAGGCTGTACCAAGG	0.557																																						ENST00000331860.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	11						c.(193-195)ggC>ggT		small proline-rich protein 3							51.0	45.0	47.0					1																	152975691		2203	4299	6502	SO:0001819	synonymous_variant	6707				keratinization|peptide cross-linking|wound healing	cytoplasm	protein binding|structural molecule activity	g.chr1:152975691C>T	AY118269	CCDS1033.1	1q21-q22	2008-02-05			ENSG00000163209	ENSG00000163209			11268	protein-coding gene	gene with protein product		182271				8325635	Standard	NM_005416		Approved		uc001faz.4	Q9UBC9	OTTHUMG00000013872	ENST00000295367.4:c.195C>T	1.37:g.152975691C>T						SPRR3_ENST00000542696.1_Silent_p.G65G|SPRR3_ENST00000295367.4_Silent_p.G65G	p.G65G	NM_005416.2	NP_005407.1	Q9UBC9	SPRR3_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		3	345	+	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		65	Missing (in Ref. 2; no nucleotide entry, 4; CAB65098 and 9; AAH17802).		14 X 8 AA approximate tandem repeats.		A5YKK8|B2R4G8|D3DV32|O75597|Q4ZGI7|Q5T525|Q8NET7|Q9UDG3	Silent	SNP	ENST00000295367.4	37	c.195C>T	CCDS1033.1																																																																																				0.557	SPRR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000038910.1	NM_005416		7	273	0	0	0	1	0	7	273				
LRRC37A4P	55073	broad.mit.edu	37	17	43587569	43587569	+	RNA	SNP	G	G	C	rs202189074		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	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		5	195	0	0	0	1	0	5	195				
PTPN13	5783	broad.mit.edu	37	4	87622708	87622708	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr4:87622708G>A	ENST00000411767.2	+	7	1012	c.949G>A	c.(949-951)Gag>Aag	p.E317K	PTPN13_ENST00000436978.1_Missense_Mutation_p.E317K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E317K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E317K|PTPN13_ENST00000316707.6_Missense_Mutation_p.E317K			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	317					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTCTTCAGGAGAGACTGCCAC	0.458																																						ENST00000436978.1																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93						c.(949-951)Gag>Aag		protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)							81.0	78.0	79.0					4																	87622708		1958	4148	6106	SO:0001583	missense	0					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity	g.chr4:87622708G>A		CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.949G>A	4.37:g.87622708G>A	ENSP00000407249:p.Glu317Lys					PTPN13_ENST00000316707.6_Missense_Mutation_p.E317K|PTPN13_ENST00000427191.2_Missense_Mutation_p.E317K|PTPN13_ENST00000411767.2_Missense_Mutation_p.E317K|PTPN13_ENST00000511467.1_Missense_Mutation_p.E317K	p.E317K	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00082)	7	1429	+		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	317					B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	ENST00000411767.2	37	c.949G>A	CCDS47094.1	.	.	.	.	.	.	.	.	.	.	G	14.69	2.612102	0.46631	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	6.02	5.17	0.71159	.	0.473238	0.18118	N	0.151133	T	0.36853	0.0982	L	0.57536	1.79	0.34254	D	0.679118	B;P;P;B	0.44627	0.037;0.675;0.839;0.259	B;B;B;B	0.36567	0.093;0.228;0.114;0.067	T	0.54450	-0.8292	10	0.38643	T	0.18	.	11.0908	0.48115	0.14:0.0:0.86:0.0	.	317;317;317;317	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	K	317;317;317;317;317;285	ENSP00000408368:E317K;ENSP00000394794:E317K;ENSP00000322675:E317K;ENSP00000407249:E317K;ENSP00000426626:E317K	ENSP00000322675:E317K	E	+	1	0	PTPN13	87841732	1.000000	0.71417	0.990000	0.47175	0.428000	0.31595	3.582000	0.53921	1.547000	0.49401	0.650000	0.86243	GAG		0.458	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363191.1			68	158	0	0	0	1	0	68	158				
ZNF585A	199704	broad.mit.edu	37	19	37644404	37644404	+	Missense_Mutation	SNP	C	C	T	rs533790578		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:37644404C>T	ENST00000356958.4	-	5	655	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000292841.5_Missense_Mutation_p.A78T|ZNF585A_ENST00000392157.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000355533.2_Missense_Mutation_p.A78T			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	133					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCAAATTTGGCGCATTCATAA	0.383													C|||	1	0.000199681	0.0	0.0	5008	,	,		17776	0.0		0.0	False		,,,				2504	0.001					ENST00000356958.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(397-399)Gcc>Acc		zinc finger protein 585A							160.0	160.0	160.0					19																	37644404		2203	4300	6503	SO:0001583	missense	199704				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:37644404C>T	AK074345	CCDS12499.1, CCDS74353.1	19q13.13	2013-01-08				ENSG00000196967		"""Zinc fingers, C2H2-type"", ""-"""	26305	protein-coding gene	gene with protein product						12477932	Standard	NM_199126		Approved	FLJ23765	uc002ofn.1	Q6P3V2		ENST00000356958.4:c.397G>A	19.37:g.37644404C>T	ENSP00000349440:p.Ala133Thr					ZNF585A_ENST00000292841.5_Missense_Mutation_p.A78T|ZNF585A_ENST00000355533.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000392157.2_Missense_Mutation_p.A78T|ZNF585A_ENST00000588723.1_Intron	p.A133T			Q6P3V2	Z585A_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	655	-			133					Q8TE95|Q96MV3	Missense_Mutation	SNP	ENST00000356958.4	37	c.397G>A		.	.	.	.	.	.	.	.	.	.	C	9.121	1.009054	0.19199	.	.	ENSG00000196967	ENST00000356958;ENST00000292841;ENST00000392157;ENST00000355533	T;T;T;T	0.35789	1.29;1.29;1.29;1.67	2.95	1.88	0.25563	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.224693	0.22663	U	0.057163	T	0.11067	0.0270	N	0.01742	-0.745	0.09310	N	1	B	0.26935	0.164	B	0.20577	0.03	T	0.23048	-1.0199	10	0.20046	T	0.44	.	5.5634	0.17157	0.2297:0.5464:0.2238:0.0	.	133	Q6P3V2	Z585A_HUMAN	T	133;78;78;78	ENSP00000349440:A133T;ENSP00000292841:A78T;ENSP00000375998:A78T;ENSP00000347724:A78T	ENSP00000292841:A78T	A	-	1	0	ZNF585A	42336244	0.000000	0.05858	0.004000	0.12327	0.002000	0.02628	-4.249000	0.00266	0.770000	0.33336	0.655000	0.94253	GCC		0.383	ZNF585A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000457980.2	NM_152655		6	877	0	0	0	1	0	6	877				
ZFAT	57623	broad.mit.edu	37	8	135614834	135614834	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:135614834C>T	ENST00000377838.3	-	6	1302	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000520727.1_Silent_p.A364A|ZFAT_ENST00000520214.1_Silent_p.A364A|ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT-AS1_ENST00000505776.1_RNA	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	376					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGGGTCATGCGCGTCTCGGA	0.552																																						ENST00000520727.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						c.(1090-1092)gcG>gcA		zinc finger and AT hook domain containing							74.0	75.0	74.0					8																	135614834		2114	4240	6354	SO:0001819	synonymous_variant	57623				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding	g.chr8:135614834C>T	BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.1128G>A	8.37:g.135614834C>T						ZFAT_ENST00000429442.2_Silent_p.A364A|ZFAT_ENST00000523399.1_Silent_p.A314A|ZFAT_ENST00000520356.1_Silent_p.A364A|ZFAT_ENST00000377838.3_Silent_p.A376A|ZFAT_ENST00000520214.1_Silent_p.A364A	p.A364A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0432)		7	1391	-	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		376					B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	c.1092G>A	CCDS47924.1																																																																																				0.552	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939		5	304	0	0	0	1	0	5	304				
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:29091841G>A	ENST00000405598.1	-	12	1307	c.1116C>T	c.(1114-1116)tcC>tcT	p.S372S	CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000464581.1_5'Flank|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000544772.1_Silent_p.S151S|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000348295.3_Silent_p.S343S			O96017	CHK2_HUMAN	checkpoint kinase 2	372	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.|T-loop/activation segment.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413			F			breast		Direct reversal of damage;Other conserved DNA damage response genes																														ENST00000544772.1			yes	Rec		familial breast cancer	22	22q12.1	11200	F	CHK2 checkpoint homolog (S. pombe)			E		breast			8	Substitution - coding silent(8)	p.S372S(8)	kidney(4)|prostate(2)|endometrium(1)|central_nervous_system(1)	central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						c.(451-453)tcC>tcT	Direct reversal of damage;Other conserved DNA damage response genes	checkpoint kinase 2							43.0	44.0	44.0					22																	29091841		2203	4300	6503	SO:0001819	synonymous_variant	11200				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr22:29091841G>A	AF086904	CCDS13843.1, CCDS13844.1, CCDS33629.1	22q12.1	2014-09-17	2011-11-11	2001-09-27	ENSG00000183765	ENSG00000183765			16627	protein-coding gene	gene with protein product		604373	"""CHK2 (checkpoint, S.pombe) homolog"", ""CHK2 checkpoint homolog (S. pombe)"""	RAD53		9836640, 10097108	Standard	NM_001257387		Approved	CDS1, CHK2, HuCds1, PP1425, bA444G7	uc003adt.1	O96017	OTTHUMG00000151023	ENST00000405598.1:c.1116C>T	22.37:g.29091841G>A						CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000382578.1_Silent_p.S281S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000404276.1_Silent_p.S372S	p.S151S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN			12	1889	-			372			FHA.		A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Silent	SNP	ENST00000405598.1	37	c.453C>T	CCDS13843.1	.	.	.	.	.	.	.	.	.	.	G	5.792	0.330417	0.10956	.	.	ENSG00000183765	ENST00000434810	.	.	.	5.89	-2.11	0.07187	.	.	.	.	.	T	0.42154	0.1190	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33854	-0.9852	4	.	.	.	-7.6356	3.2532	0.06822	0.327:0.1103:0.4613:0.1014	.	.	.	.	L	116	.	.	P	-	2	0	CHEK2	27421841	0.997000	0.39634	0.996000	0.52242	0.470000	0.32858	0.318000	0.19504	-0.075000	0.12798	-0.907000	0.02831	CCA		0.413	CHEK2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321150.1	NM_001005735		14	254	0	0	0	1	0	14	254				
C10orf90	118611	broad.mit.edu	37	10	128147738	128147738	+	Missense_Mutation	SNP	G	G	A	rs139123090	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:128147738G>A	ENST00000284694.7	-	6	1888	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	C10orf90_ENST00000544758.1_Missense_Mutation_p.R687W|C10orf90_ENST00000454341.1_Missense_Mutation_p.R493W|C10orf90_ENST00000356858.3_Missense_Mutation_p.R543W|C10orf90_ENST00000480379.1_De_novo_Start_OutOfFrame	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	590	ALMS motif. {ECO:0000250}.				mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of cell growth (GO:0030308)|protein stabilization (GO:0050821)|response to ionizing radiation (GO:0010212)|response to UV (GO:0009411)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		TTCTTCAGCCGTTCTTGTGAG	0.498													G|||	5	0.000998403	0.0	0.0014	5008	,	,		22360	0.0		0.004	False		,,,				2504	0.0					ENST00000480379.1																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65								chromosome 10 open reading frame 90		G	TRP/ARG	3,4403	6.2+/-15.9	0,3,2200	176.0	147.0	157.0		1768	4.1	1.0	10	dbSNP_134	157	33,8567	22.2+/-67.0	0,33,4267	yes	missense	C10orf90	NM_001004298.2	101	0,36,6467	AA,AG,GG		0.3837,0.0681,0.2768	probably-damaging	590/700	128147738	36,12970	2203	4300	6503	SO:0001583	missense	118611							g.chr10:128147738G>A	BC034828	CCDS31310.1	10q26.2	2012-05-31			ENSG00000154493	ENSG00000154493			26563	protein-coding gene	gene with protein product	"""fragile-site associated tumor suppressor"""					20843368, 20154723	Standard	NM_001004298		Approved	FLJ32938, bA422P15.2, FATS	uc001ljq.3	Q96M02	OTTHUMG00000019245	ENST00000284694.7:c.1768C>T	10.37:g.128147738G>A	ENSP00000284694:p.Arg590Trp					C10orf90_ENST00000356858.3_Missense_Mutation_p.R543W|C10orf90_ENST00000544758.1_Missense_Mutation_p.R687W|C10orf90_ENST00000284694.7_Missense_Mutation_p.R590W|C10orf90_ENST00000454341.1_Missense_Mutation_p.R493W				Q96M02	CJ090_HUMAN		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)	0	367	-		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)						B9EIQ9|Q5JRP6|Q5T023|Q8NCV5|Q8WU75	Translation_Start_Site	SNP	ENST00000284694.7	37		CCDS31310.1	4	0.0018315018315018315	0	0.0	0	0.0	0	0.0	4	0.005277044854881266	G	17.42	3.384498	0.61845	6.81E-4	0.003837	ENSG00000154493	ENST00000356858;ENST00000284694;ENST00000454341;ENST00000544758;ENST00000432642	T;T;T;T	0.68025	-0.3;-0.04;-0.04;-0.0	5.01	4.09	0.47781	.	0.000000	0.40064	N	0.001191	T	0.72020	0.3409	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.77216	-0.2669	10	0.87932	D	0	-28.7011	10.2933	0.43610	0.0:0.0:0.6407:0.3593	.	687;590;493	F5GZL2;Q96M02;Q96M02-2	.;CJ090_HUMAN;.	W	543;590;493;687;590	ENSP00000284694:R590W;ENSP00000398786:R493W;ENSP00000444369:R687W;ENSP00000405995:R590W	ENSP00000284694:R590W	R	-	1	2	C10orf90	128137728	0.993000	0.37304	0.992000	0.48379	0.861000	0.49209	2.467000	0.45093	1.289000	0.44618	0.655000	0.94253	CGG		0.498	C10orf90-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001004298		108	282	0	0	0	1	0	108	282				
PLEKHA5	54477	broad.mit.edu	37	12	19501393	19501393	+	Nonsense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:19501393G>T	ENST00000299275.6	+	19	2467	c.2461G>T	c.(2461-2463)Gaa>Taa	p.E821*	PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.E987*|PLEKHA5_ENST00000538714.1_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.E884*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.E579*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.E810*|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.E803*	NM_019012.5	NP_061885.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	821					reproductive system development (GO:0061458)	cytosol (GO:0005829)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AGAAGTTGATGAATCTAATGG	0.348																																					Pancreas(196;329 2193 11246 14234 19524)	ENST00000538714.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(2635-2637)Gaa>Taa		pleckstrin homology domain containing, family A member 5							97.0	98.0	97.0					12																	19501393		2203	4299	6502	SO:0001587	stop_gained	54477						1-phosphatidylinositol binding|protein binding	g.chr12:19501393G>T	AF302150	CCDS8682.1, CCDS44840.1, CCDS44840.2, CCDS55809.1, CCDS58213.1, CCDS58214.1	12p12	2013-01-10			ENSG00000052126	ENSG00000052126		"""Pleckstrin homology (PH) domain containing"""	30036	protein-coding gene	gene with protein product		607770				11214970, 11001876	Standard	NM_001143821		Approved	PEPP2, KIAA1686, FLJ10667	uc031qgo.1	Q9HAU0	OTTHUMG00000167921	ENST00000299275.6:c.2461G>T	12.37:g.19501393G>T	ENSP00000299275:p.Glu821*					PLEKHA5_ENST00000359180.3_Intron|PLEKHA5_ENST00000543806.1_Nonsense_Mutation_p.E803*|PLEKHA5_ENST00000539256.1_Nonsense_Mutation_p.E579*|PLEKHA5_ENST00000317589.4_Nonsense_Mutation_p.E884*|PLEKHA5_ENST00000299275.6_Nonsense_Mutation_p.E821*|PLEKHA5_ENST00000424268.1_Nonsense_Mutation_p.E810*|PLEKHA5_ENST00000355397.3_Nonsense_Mutation_p.E879*|PLEKHA5_ENST00000429027.2_Nonsense_Mutation_p.E987*	p.E879*	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN			21	2639	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)		821					A0JP03|B4DGS1|E9PHQ3|F5H0I0|Q6NSF8|Q86ST7|Q8N3K6|Q96DY9|Q9BVR4|Q9C0H7|Q9H924|Q9NVK8	Nonsense_Mutation	SNP	ENST00000299275.6	37	c.2635G>T	CCDS8682.1	.	.	.	.	.	.	.	.	.	.	G	42	9.521210	0.99193	.	.	ENSG00000052126	ENST00000317589;ENST00000355397;ENST00000542828;ENST00000429027;ENST00000299275;ENST00000539256;ENST00000538714;ENST00000424268;ENST00000543806;ENST00000536974	.	.	.	5.09	5.09	0.68999	.	0.284028	0.37136	N	0.002230	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-19.7244	18.8652	0.92289	0.0:0.0:1.0:0.0	.	.	.	.	X	884;879;983;987;821;579;879;810;803;776	.	ENSP00000299275:E821X	E	+	1	0	PLEKHA5	19392660	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.173000	0.89680	2.489000	0.83994	0.563000	0.77884	GAA		0.348	PLEKHA5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000397013.1	NM_019012		5	301	1	0	8.12818e-05	1	8.30298e-05	5	301				
SCN5A	6331	broad.mit.edu	37	3	38662392	38662392	+	Missense_Mutation	SNP	C	C	T	rs192113333		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:38662392C>T	ENST00000333535.4	-	5	702	c.553G>A	c.(553-555)Gcg>Acg	p.A185T	SCN5A_ENST00000443581.1_Missense_Mutation_p.A185T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A185T|SCN5A_ENST00000455624.2_Missense_Mutation_p.A185T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A185T|SCN5A_ENST00000413689.1_Missense_Mutation_p.A185T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A185T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A185T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A185T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A185T			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	185					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	AAAGTGAACGCGTGCAGGCAG	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		21080	0.0		0.001	False		,,,				2504	0.0					ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	GRCh37	CM044054	SCN5A	M	rs192113333	c.(553-555)Gcg>Acg		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						54.0	61.0	59.0					3																	38662392		1985	4185	6170	SO:0001583	missense	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38662392C>T	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.553G>A	3.37:g.38662392C>T	ENSP00000328968:p.Ala185Thr					SCN5A_ENST00000455624.2_Missense_Mutation_p.A185T|SCN5A_ENST00000451551.2_Missense_Mutation_p.A185T|SCN5A_ENST00000333535.4_Missense_Mutation_p.A185T|SCN5A_ENST00000449557.2_Missense_Mutation_p.A185T|SCN5A_ENST00000450102.2_Missense_Mutation_p.A185T|SCN5A_ENST00000443581.1_Missense_Mutation_p.A185T|SCN5A_ENST00000425664.1_Missense_Mutation_p.A185T|SCN5A_ENST00000423572.2_Missense_Mutation_p.A185T|SCN5A_ENST00000414099.2_Missense_Mutation_p.A185T	p.A185T	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	5	746	-	Medulloblastoma(35;0.163)		185					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Missense_Mutation	SNP	ENST00000333535.4	37	c.553G>A	CCDS46796.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	13.26	2.182805	0.38511	.	.	ENSG00000183873	ENST00000414099;ENST00000423572;ENST00000413689;ENST00000451551;ENST00000443581;ENST00000425664;ENST00000333535;ENST00000455624;ENST00000450102;ENST00000449557	D;D;D;D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	4.13	4.13	0.48395	Ion transport (1);	0.272885	0.36893	N	0.002355	D	0.94568	0.8250	N	0.22421	0.69	0.09310	N	1	P;P;P;P;P;P	0.50710	0.898;0.936;0.898;0.873;0.938;0.846	B;B;B;B;B;B	0.40165	0.249;0.321;0.249;0.255;0.299;0.079	D	0.90051	0.4149	10	0.44086	T	0.13	.	12.7806	0.57474	0.0:0.835:0.165:0.0	.	185;185;185;185;185;185	E9PEF3;E9PHB6;E9PG18;Q14524;Q14524-2;E9PEK2	.;.;.;SCN5A_HUMAN;.;.	T	185	ENSP00000398962:A185T;ENSP00000398266:A185T;ENSP00000410257:A185T;ENSP00000388797:A185T;ENSP00000397915:A185T;ENSP00000416634:A185T;ENSP00000328968:A185T;ENSP00000399524:A185T;ENSP00000403355:A185T;ENSP00000413996:A185T	ENSP00000328968:A185T	A	-	1	0	SCN5A	38637396	0.008000	0.16893	0.142000	0.22268	0.893000	0.52053	1.343000	0.33930	2.306000	0.77630	0.561000	0.74099	GCG		0.527	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		22	83	0	0	0	1	0	22	83				
TTN	7273	broad.mit.edu	37	2	179455980	179455980	+	Missense_Mutation	SNP	C	C	T	rs375009570		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:179455980C>T	ENST00000591111.1	-	254	55773	c.55549G>A	c.(55549-55551)Ggt>Agt	p.G18517S	TTN_ENST00000342992.6_Missense_Mutation_p.G17590S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11218S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11285S|TTN_ENST00000589042.1_Missense_Mutation_p.G20158S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11093S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	18517	Ig-like 106.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTGCTACCGGCTGCATTG	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(60472-60474)Ggt>Agt		titin							230.0	235.0	233.0					2																	179455980		1910	4131	6041	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179455980C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.55549G>A	2.37:g.179455980C>T	ENSP00000465570:p.Gly18517Ser					TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17590S|TTN_ENST00000342175.6_Missense_Mutation_p.G11285S|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G18517S|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11218S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11093S	p.G20158S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		304	60696	-			18517			Fibronectin type-III 46.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.60472G>A		.	.	.	.	.	.	.	.	.	.	C	14.91	2.675466	0.47781	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83	6.11	6.11	0.99139	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Fibronectin, type III (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.89729	0.6799	M	0.90369	3.11	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.90351	0.4366	9	0.87932	D	0	.	20.7342	0.99715	0.0:1.0:0.0:0.0	.	11093;11218;11285;18517	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	S	17590;11093;11285;11218;11091	ENSP00000343764:G17590S;ENSP00000434586:G11093S;ENSP00000340554:G11285S;ENSP00000352154:G11218S	ENSP00000340554:G11285S	G	-	1	0	TTN	179164226	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.818000	0.86416	2.906000	0.99361	0.655000	0.94253	GGT		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		201	593	0	0	0	1	0	201	593				
CAPRIN2	65981	broad.mit.edu	37	12	30873750	30873750	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:30873750G>C	ENST00000298892.5	-	12	2893	c.2143C>G	c.(2143-2145)Cct>Gct	p.P715A	CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P715A|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P382A|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.P715A	NM_023925.3	NP_076414.2			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TTTACCTCAGGAGTCTCTGAG	0.373																																						ENST00000251071.5																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48						c.(2143-2145)Cct>Gct		caprin family member 2							81.0	85.0	84.0					12																	30873750		2203	4300	6503	SO:0001583	missense	65981				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	g.chr12:30873750G>C	AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000298892.5:c.2143C>G	12.37:g.30873750G>C	ENSP00000298892:p.Pro715Ala					CAPRIN2_ENST00000395805.2_Intron|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.P715A|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.P715A|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.P382A	p.P715A	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN			12	2893	-	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)		715						Missense_Mutation	SNP	ENST00000298892.5	37	c.2143C>G	CCDS8720.1	.	.	.	.	.	.	.	.	.	.	G	15.66	2.900537	0.52227	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000537108	T;T;T;T;T;T	0.20738	2.05;2.05;2.05;2.05;2.05;2.05	5.45	3.56	0.40772	.	0.402823	0.26041	N	0.026690	T	0.18087	0.0434	L	0.46157	1.445	0.37841	D	0.92906	B;B;B;B	0.24721	0.11;0.012;0.015;0.026	B;B;B;B	0.22152	0.028;0.027;0.016;0.038	T	0.06427	-1.0827	10	0.09338	T	0.73	-5.5419	14.5087	0.67769	0.0:0.42:0.58:0.0	.	715;715;715;715	Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;CAPR2_HUMAN;.;.	A	461;715;715;382;715;634	ENSP00000415407:P461A;ENSP00000298892:P715A;ENSP00000251071:P715A;ENSP00000309785:P382A;ENSP00000391479:P715A;ENSP00000438010:P634A	ENSP00000251071:P715A	P	-	1	0	CAPRIN2	30765017	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.051000	0.30417	0.619000	0.30197	-0.282000	0.10007	CCT		0.373	CAPRIN2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000402778.1	NM_023925		7	313	0	0	0	1	0	7	313				
ETS1	2113	broad.mit.edu	37	11	128391808	128391808	+	Splice_Site	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:128391808C>T	ENST00000319397.6	-	1	391	c.82G>A	c.(82-84)Gat>Aat	p.D28N	ETS1_ENST00000392668.4_Intron|ETS1_ENST00000526145.2_Splice_Site_p.D28N|ETS1_ENST00000535549.1_Splice_Site_p.G28S|ETS1_ENST00000345075.4_Splice_Site_p.D28N|ETS1_ENST00000531611.1_Splice_Site_p.D28N	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	28					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		CGCCACTCACCCGGGGAGGGG	0.652																																						ENST00000345075.4																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.e1+1		v-ets avian erythroblastosis virus E26 oncogene homolog 1							39.0	44.0	42.0					11																	128391808		2201	4297	6498	SO:0001630	splice_region_variant	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128391808C>T		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.82+1G>A	11.37:g.128391808C>T						ETS1_ENST00000319397.5_Splice_Site_p.D28_splice|ETS1_ENST00000392668.3_Intron|ETS1_ENST00000535549.1_Splice_Site_p.G28_splice|ETS1_ENST00000526145.1_Splice_Site_p.D28_splice|ETS1_ENST00000531611.1_Splice_Site_p.D28_splice	p.D28_splice			P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	1	397	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	28					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Splice_Site	SNP	ENST00000319397.6	37	c.82_splice	CCDS8475.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.090046|5.090046	0.94149|0.94149	.|.	.|.	ENSG00000134954|ENSG00000134954	ENST00000345075;ENST00000531611;ENST00000319397;ENST00000526145|ENST00000535549	T;T;T;T|T	0.51817|0.17691	2.93;0.69;2.59;2.93|2.26	4.72|4.72	4.72|4.72	0.59763|0.59763	.|.	.|.	.|.	.|.	.|.	T|T	0.20333|0.20333	0.0489|0.0489	M|M	0.64404|0.64404	1.975|1.975	0.58432|0.58432	D|D	0.999999|0.999999	P;P|B	0.52316|0.17038	0.743;0.952|0.02	B;P|B	0.49140|0.18871	0.097;0.601|0.023	T|T	0.02901|0.02901	-1.1096|-1.1096	8|8	.|.	.|.	.|.	.|.	14.9724|14.9724	0.71243|0.71243	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	28;28|28	P14921;Q96AC5|F5GYX9	ETS1_HUMAN;.|.	N|S	28|28	ENSP00000340485:D28N;ENSP00000435666:D28N;ENSP00000324578:D28N;ENSP00000433500:D28N|ENSP00000441430:G28S	.|.	D|G	-|-	1|1	0|0	ETS1|ETS1	127897018|127897018	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.060000|4.060000	0.57477|0.57477	2.325000|2.325000	0.78763|0.78763	0.591000|0.591000	0.81541|0.81541	GAT|GGT		0.652	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238	Missense_Mutation	131	193	0	0	0	1	0	131	193				
IGF2R	3482	broad.mit.edu	37	6	160501166	160501166	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:160501166G>A	ENST00000356956.1	+	39	5840	c.5692G>A	c.(5692-5694)Gat>Aat	p.D1898N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1898	Fibronectin type-II. {ECO:0000255|PROSITE-ProRule:PRU00479}.				insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TCCAGAAACCGATGACGGCGT	0.532																																						ENST00000356956.1																			0				breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(5692-5694)Gat>Aat		insulin-like growth factor 2 receptor							155.0	142.0	146.0					6																	160501166		2203	4300	6503	SO:0001583	missense	3482				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity	g.chr6:160501166G>A	J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5692G>A	6.37:g.160501166G>A	ENSP00000349437:p.Asp1898Asn						p.D1898N	NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	39	5840	+		Breast(66;0.000777)|Ovarian(120;0.0305)	1898			Fibronectin type-II.		Q7Z7G9|Q96PT5	Missense_Mutation	SNP	ENST00000356956.1	37	c.5692G>A	CCDS5273.1	.	.	.	.	.	.	.	.	.	.	G	13.28	2.190890	0.38707	.	.	ENSG00000197081	ENST00000356956	T	0.42131	0.98	5.5	4.64	0.57946	Mannose-6-phosphate receptor, binding (1);Fibronectin, type II, collagen-binding (3);Kringle-like fold (1);	0.753844	0.13297	N	0.398503	T	0.21145	0.0509	L	0.54323	1.7	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.14671	-1.0464	10	0.31617	T	0.26	-21.8803	12.8987	0.58113	0.0752:0.0:0.9248:0.0	.	1898	P11717	MPRI_HUMAN	N	1898	ENSP00000349437:D1898N	ENSP00000349437:D1898N	D	+	1	0	IGF2R	160421156	0.963000	0.33076	0.009000	0.14445	0.005000	0.04900	4.116000	0.57871	1.459000	0.47892	0.655000	0.94253	GAT		0.532	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042931.1	NM_000876		117	321	0	0	0	1	0	117	321				
CACNA1F	778	broad.mit.edu	37	X	49063557	49063557	+	Missense_Mutation	SNP	G	G	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:49063557G>C	ENST00000376265.2	-	44	5234	c.5173C>G	c.(5173-5175)Ctc>Gtc	p.L1725V	CACNA1F_ENST00000323022.5_Missense_Mutation_p.L1714V|CACNA1F_ENST00000376251.1_Missense_Mutation_p.L1660V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1725					axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGAAAATGAGAGCCCCAGAG	0.547																																						ENST00000376265.2																			0				autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85						c.(5173-5175)Ctc>Gtc		calcium channel, voltage-dependent, L type, alpha 1F subunit	Verapamil(DB00661)						114.0	79.0	91.0					X																	49063557		2201	4296	6497	SO:0001583	missense	778				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity	g.chrX:49063557G>C	AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.5173C>G	X.37:g.49063557G>C	ENSP00000365441:p.Leu1725Val					CACNA1F_ENST00000376251.1_Missense_Mutation_p.L1660V|CACNA1F_ENST00000323022.5_Missense_Mutation_p.L1714V	p.L1725V	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN			44	5234	-			1725					A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	ENST00000376265.2	37	c.5173C>G	CCDS35253.1	.	.	.	.	.	.	.	.	.	.	G	2.789	-0.251861	0.05829	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.96265	-3.96;-3.88;-3.88	3.97	-0.788	0.10939	.	16.143700	0.00166	N	0.000000	D	0.89795	0.6818	N	0.08118	0	0.09310	N	1	B;B	0.21905	0.062;0.001	B;B	0.22152	0.038;0.001	D	0.83992	0.0338	10	0.15499	T	0.54	.	7.2841	0.26328	0.4927:0.0:0.5073:0.0	.	1714;1725	F5CIQ9;O60840	.;CAC1F_HUMAN	V	1660;1714;1725	ENSP00000365427:L1660V;ENSP00000321618:L1714V;ENSP00000365441:L1725V	ENSP00000321618:L1714V	L	-	1	0	CACNA1F	48950501	0.029000	0.19370	0.052000	0.19188	0.992000	0.81027	-0.100000	0.10990	-0.292000	0.08999	0.529000	0.55759	CTC		0.547	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358157.1	NM_005183		16	5	0	0	0	1	0	16	5				
CEACAM4	1089	broad.mit.edu	37	19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488																																						ENST00000221954.2																			1	Substitution - Missense(1)	p.A94T(1)	lung(1)	NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						c.(280-282)Gca>Aca		carcinoembryonic antigen-related cell adhesion molecule 4							166.0	157.0	160.0					19																	42132119		2203	4300	6503	SO:0001583	missense	1089					integral to plasma membrane|membrane fraction		g.chr19:42132119C>T	D90276	CCDS33033.1	19q13.2	2013-01-11			ENSG00000105352	ENSG00000105352		"""Immunoglobulin superfamily / V-set domain containing"""	1816	protein-coding gene	gene with protein product				CGM7		2050678	Standard	XM_005258434		Approved		uc002orh.1	O75871	OTTHUMG00000151065	ENST00000221954.2:c.280G>A	19.37:g.42132119C>T	ENSP00000221954:p.Ala94Thr					CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN			2	390	-			94			Ig-like V-type.		Q03715|Q7LDZ7	Missense_Mutation	SNP	ENST00000221954.2	37	c.280G>A	CCDS33033.1	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639939	0.47153	.	.	ENSG00000105352	ENST00000221954	T	0.66280	-0.2	1.76	1.76	0.24704	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.76278	0.3965	M	0.84219	2.685	0.09310	N	1	D;D	0.89917	0.997;1.0	D;D	0.73380	0.921;0.98	T	0.61207	-0.7109	9	0.66056	D	0.02	.	6.9535	0.24558	0.0:1.0:0.0:0.0	.	94;94	E7EMX3;O75871	.;CEAM4_HUMAN	T	94	ENSP00000221954:A94T	ENSP00000221954:A94T	A	-	1	0	CEACAM4	46823959	0.000000	0.05858	0.009000	0.14445	0.015000	0.08874	0.618000	0.24373	1.281000	0.44480	0.205000	0.17691	GCA		0.488	CEACAM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321148.1	NM_001817		8	987	0	0	0	1	0	8	987				
SP140	11262	broad.mit.edu	37	2	231120208	231120208	+	Missense_Mutation	SNP	C	C	T	rs201685101		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:231120208C>T	ENST00000392045.3	+	12	1315	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	SP140_ENST00000420434.3_Intron|SP140_ENST00000486687.2_Missense_Mutation_p.R325C|SP140_ENST00000417495.3_Missense_Mutation_p.R287C|SP140_ENST00000350136.5_Missense_Mutation_p.R270C|SP140_ENST00000343805.6_Missense_Mutation_p.R341C	NM_007237.4	NP_009168.4	Q13342	SP140_HUMAN	SP140 nuclear body protein	401					defense response (GO:0006952)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGAGAAGAGCGCCAGGAAGC	0.527																																						ENST00000392045.3																			0				NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						c.(1201-1203)Cgc>Tgc		SP140 nuclear body protein							100.0	94.0	96.0					2																	231120208		1909	4105	6014	SO:0001583	missense	11262				defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:231120208C>T	U63420	CCDS33392.1, CCDS42831.1, CCDS63149.1, CCDS63150.1, CCDS63151.1	2q37.1	2013-01-28			ENSG00000079263	ENSG00000079263		"""Zinc fingers, PHD-type"""	17133	protein-coding gene	gene with protein product		608602				8695863, 8910577, 12368356	Standard	NM_001005176		Approved	LYSP100-B, LYSP100-A	uc002vql.3	Q13342	OTTHUMG00000153670	ENST00000392045.3:c.1201C>T	2.37:g.231120208C>T	ENSP00000375899:p.Arg401Cys					SP140_ENST00000486687.2_Missense_Mutation_p.R325C|SP140_ENST00000343805.6_Missense_Mutation_p.R341C|SP140_ENST00000417495.3_Missense_Mutation_p.R287C|SP140_ENST00000420434.3_Intron|SP140_ENST00000350136.5_Missense_Mutation_p.R270C	p.R401C	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)	12	1315	+		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)	401					E7ESH9|E7EUR5|E9PFJ6|Q0VGE5|Q13341|Q3KR17|Q4ZG66|Q53TG1|Q6NSG4|Q92881|Q96TG3	Missense_Mutation	SNP	ENST00000392045.3	37	c.1201C>T	CCDS42831.1	.	.	.	.	.	.	.	.	.	.	c	9.688	1.151170	0.21371	.	.	ENSG00000079263	ENST00000486687;ENST00000392044;ENST00000350136;ENST00000392045;ENST00000343805	T;T;T;T	0.60040	0.56;0.86;0.62;0.22	2.9	-1.08	0.09936	.	.	.	.	.	T	0.30198	0.0757	N	0.14661	0.345	0.09310	N	1	P;D;P	0.56968	0.688;0.978;0.561	B;B;B	0.37422	0.188;0.249;0.063	T	0.24190	-1.0167	9	0.66056	D	0.02	3.0597	3.4175	0.07381	0.0:0.4239:0.2039:0.3723	.	341;401;367	E9PFJ6;Q13342;E7EX75	.;LY10_HUMAN;.	C	325;367;270;401;341	ENSP00000440107:R325C;ENSP00000345846:R270C;ENSP00000375899:R401C;ENSP00000342096:R341C	ENSP00000342096:R341C	R	+	1	0	SP140	230828452	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.367000	0.20382	-0.283000	0.09115	-0.283000	0.09986	CGC		0.527	SP140-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000332015.1	NM_007237		57	204	0	0	0	1	0	57	204				
CDC25A	993	broad.mit.edu	37	3	48219349	48219349	+	Missense_Mutation	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:48219349G>T	ENST00000302506.3	-	7	1087	c.679C>A	c.(679-681)Ctg>Atg	p.L227M	RNU7-128P_ENST00000517247.1_RNA|CDC25A_ENST00000351231.3_Missense_Mutation_p.L187M	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	227					cell proliferation (GO:0008283)|cellular response to UV (GO:0034644)|DNA replication (GO:0006260)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to radiation (GO:0009314)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GGTACCTTCAGATTCTCTCCA	0.448																																						ENST00000302506.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20						c.(679-681)Ctg>Atg		cell division cycle 25A							184.0	178.0	180.0					3																	48219349		2203	4300	6503	SO:0001583	missense	993				cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr3:48219349G>T	M81933	CCDS2760.1, CCDS2761.1	3p21	2013-01-17	2013-01-17		ENSG00000164045	ENSG00000164045		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1725	protein-coding gene	gene with protein product		116947	"""cell division cycle 25A"", ""cell division cycle 25 homolog A (S. cerevisiae)"", ""cell division cycle 25 homolog A (S. pombe)"""			1836978	Standard	NM_001789		Approved		uc003csh.1	P30304	OTTHUMG00000133535	ENST00000302506.3:c.679C>A	3.37:g.48219349G>T	ENSP00000303706:p.Leu227Met					CDC25A_ENST00000351231.3_Missense_Mutation_p.L187M	p.L227M	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)	7	1087	-			227					Q8IZH5|Q96IL3|Q9H2F2	Missense_Mutation	SNP	ENST00000302506.3	37	c.679C>A	CCDS2760.1	.	.	.	.	.	.	.	.	.	.	G	12.09	1.834951	0.32421	.	.	ENSG00000164045	ENST00000302506;ENST00000351231;ENST00000443342	T;T;T	0.36520	1.25;1.25;1.25	5.86	-1.61	0.08399	.	0.298652	0.32068	N	0.006637	T	0.25195	0.0612	L	0.40543	1.245	0.31540	N	0.660029	B;B	0.22746	0.074;0.053	B;B	0.36534	0.145;0.227	T	0.17228	-1.0376	10	0.37606	T	0.19	.	0.6643	0.00848	0.2883:0.1209:0.3425:0.2483	.	187;227	P30304-2;P30304	.;MPIP1_HUMAN	M	227;187;226	ENSP00000303706:L227M;ENSP00000343166:L187M;ENSP00000416483:L226M	ENSP00000303706:L227M	L	-	1	2	CDC25A	48194353	0.984000	0.35163	0.843000	0.33291	0.723000	0.41478	0.184000	0.16939	-0.685000	0.05177	-0.291000	0.09656	CTG		0.448	CDC25A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257512.2	NM_001789		481	635	1	0	3.58181e-153	1	3.86673e-153	481	635				
TYROBP	7305	broad.mit.edu	37	19	36399086	36399086	+	Silent	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:36399086G>T	ENST00000262629.4	-	1	111	c.45C>A	c.(43-45)ctC>ctA	p.L15L	TYROBP_ENST00000585901.2_Silent_p.L15L|TYROBP_ENST00000589517.1_Silent_p.L15L|TYROBP_ENST00000544690.2_Silent_p.L15L|TYROBP_ENST00000424586.3_Silent_p.L15L	NM_003332.3|NM_198125.2	NP_003323.1|NP_937758.1	O43914	TYOBP_HUMAN	TYRO protein tyrosine kinase binding protein	15					axon guidance (GO:0007411)|cellular defense response (GO:0006968)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|regulation of immune response (GO:0050776)|regulation of osteoclast development (GO:2001204)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|receptor binding (GO:0005102)|receptor signaling protein activity (GO:0005057)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CAGCCAGCAGGAGAGGCAGGA	0.657																																						ENST00000585901.2																			0				NS(1)|central_nervous_system(1)|large_intestine(1)|lung(4)|skin(1)	8						c.(43-45)ctC>ctA		TYRO protein tyrosine kinase binding protein							39.0	38.0	39.0					19																	36399086		2203	4300	6503	SO:0001819	synonymous_variant	7305				axon guidance|cell junction assembly|cellular defense response|intracellular signal transduction|regulation of immune response	integral to plasma membrane|intracellular	identical protein binding|receptor signaling protein activity	g.chr19:36399086G>T	AF019563	CCDS12482.1, CCDS46058.1, CCDS54255.1, CCDS59378.1	19q13.1	2014-09-17				ENSG00000011600			12449	protein-coding gene	gene with protein product	"""killer activating receptor associated protein"", ""DNAX-activation protein 12"""	604142		PLOSL		9490415, 10888890	Standard	NM_003332		Approved	DAP12, PLO-SL, KARAP	uc002ocm.3	O43914		ENST00000262629.4:c.45C>A	19.37:g.36399086G>T						TYROBP_ENST00000424586.3_Silent_p.L15L|TYROBP_ENST00000262629.4_Silent_p.L15L|TYROBP_ENST00000589517.1_Silent_p.L15L|TYROBP_ENST00000544690.2_Silent_p.L15L	p.L15L			O43914	TYOBP_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		1	63	-	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		15					A8K2X0|F5H389|Q6FGA5|Q9UMT3	Silent	SNP	ENST00000262629.4	37	c.45C>A	CCDS12482.1																																																																																				0.657	TYROBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457397.1			7	180	1	0	0.00307968	1	0.00309597	7	180				
GPR125	166647	broad.mit.edu	37	4	22390725	22390725	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr4:22390725C>T	ENST00000334304.5	-	18	2978	c.2709G>A	c.(2707-2709)cgG>cgA	p.R903R	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	903					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.R903R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTGCGTTTGGCCGACTGCCGT	0.418																																						ENST00000334304.5																			1	Substitution - coding silent(1)	p.R903R(1)	lung(1)	breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56						c.(2707-2709)cgG>cgA		G protein-coupled receptor 125							206.0	217.0	213.0					4																	22390725		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22390725C>T	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2709G>A	4.37:g.22390725C>T						GPR125_ENST00000282943.5_5'UTR	p.R903R	NM_145290.2	NP_660333.2	Q8IWK6	GP125_HUMAN			18	2978	-		Breast(46;0.198)	903					Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2709G>A	CCDS33964.1																																																																																				0.418	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			8	1141	0	0	0	1	0	8	1141				
C17orf97	400566	broad.mit.edu	37	17	263636	263636	+	Silent	SNP	C	C	T	rs71369083|rs71145728		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:263636C>T	ENST00000360127.6	+	2	1018	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	364	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G334G(4)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCTCAAGGGCTTCCACCCCG	0.697																																						ENST00000360127.6																			4	Substitution - coding silent(4)	p.G334G(4)	lung(2)|kidney(2)	breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(1000-1002)ggC>ggT		chromosome 17 open reading frame 97																																				SO:0001819	synonymous_variant	400566							g.chr17:263636C>T	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.1002C>T	17.37:g.263636C>T						AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	p.G334G	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	1018	+			364			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000360127.6	37	c.1002C>T	CCDS32519.2																																																																																				0.697	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		9	167	0	0	0	1	0	9	167				
MN1	4330	broad.mit.edu	37	22	28194939	28194939	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:28194939C>T	ENST00000302326.4	-	1	2547	c.1593G>A	c.(1591-1593)caG>caA	p.Q531Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	531	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgttgctgctgctgctgct	0.652			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(1591-1593)caG>caA		meningioma (disrupted in balanced translocation) 1							4.0	6.0	5.0					22																	28194939		1796	3654	5450	SO:0001819	synonymous_variant	4330						binding	g.chr22:28194939C>T	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1593G>A	22.37:g.28194939C>T							p.Q531Q	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	2547	-			531			Poly-Gln.		A9Z1V9	Silent	SNP	ENST00000302326.4	37	c.1593G>A	CCDS42998.1																																																																																				0.652	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		10	18	0	0	0	1	0	10	18				
YLPM1	56252	broad.mit.edu	37	14	75248343	75248343	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:75248343A>G	ENST00000552421.1	+	4	1721	c.1597A>G	c.(1597-1599)Atg>Gtg	p.M533V	YLPM1_ENST00000325680.7_Missense_Mutation_p.M533V|YLPM1_ENST00000238571.3_Intron			P49750	YLPM1_HUMAN	YLP motif containing 1	0					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCTACCTACAATGCCCCCTCC	0.527																																						ENST00000325680.7																			0				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62						c.(1597-1599)Atg>Gtg		YLP motif containing 1							209.0	217.0	214.0					14																	75248343		2100	4203	6303	SO:0001583	missense	56252				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck		g.chr14:75248343A>G	AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.1597A>G	14.37:g.75248343A>G	ENSP00000447921:p.Met533Val					YLPM1_ENST00000552421.1_Missense_Mutation_p.M533V|YLPM1_ENST00000238571.3_Intron	p.M533V	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)	4	1721	+			340					P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	ENST00000552421.1	37	c.1597A>G		.	.	.	.	.	.	.	.	.	.	A	11.07	1.531914	0.27387	.	.	ENSG00000119596	ENST00000552421;ENST00000325680;ENST00000423680	.	.	.	5.84	4.67	0.58626	.	.	.	.	.	T	0.39572	0.1083	N	0.24115	0.695	0.80722	D	1	B	0.15930	0.015	B	0.14023	0.01	T	0.14282	-1.0478	8	0.12430	T	0.62	.	10.5131	0.44874	0.8549:0.0:0.0:0.1451	.	533	P49750-4	.	V	533;533;246	.	ENSP00000324463:M533V	M	+	1	0	YLPM1	74318096	0.874000	0.30092	1.000000	0.80357	0.994000	0.84299	1.654000	0.37334	1.006000	0.39211	0.482000	0.46254	ATG		0.527	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404450.1	NM_019589		11	701	0	0	0	1	0	11	701				
TMEM198	130612	broad.mit.edu	37	2	220409474	220409474	+	Missense_Mutation	SNP	C	C	T	rs201245165		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:220409474C>T	ENST00000344458.2	+	3	610	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	CHPF_ENST00000535926.1_5'Flank|TMEM198_ENST00000373883.3_Missense_Mutation_p.R9W|CHPF_ENST00000243776.6_5'Flank|RP11-256I23.1_ENST00000596829.1_RNA|CHPF_ENST00000373891.2_5'Flank			Q66K66	TM198_HUMAN	transmembrane protein 198	9					multicellular organismal development (GO:0007275)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGCAACACTGCGGTTCCAGCT	0.617													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18477	0.0		0.0	False		,,,				2504	0.0					ENST00000344458.2																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16						c.(25-27)Cgg>Tgg		transmembrane protein 198							97.0	89.0	92.0					2																	220409474		2203	4300	6503	SO:0001583	missense	130612					integral to membrane		g.chr2:220409474C>T	BC068567	CCDS33385.1	2q35	2011-12-06			ENSG00000188760	ENSG00000188760			33704	protein-coding gene	gene with protein product							Standard	NM_001005209		Approved	MGC99813, TMEM198A	uc002vmf.3	Q66K66	OTTHUMG00000059156	ENST00000344458.2:c.25C>T	2.37:g.220409474C>T	ENSP00000343507:p.Arg9Trp					TMEM198_ENST00000373883.3_Missense_Mutation_p.R9W	p.R9W			Q66K66	TM198_HUMAN		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)	3	610	+		Renal(207;0.0376)	9						Missense_Mutation	SNP	ENST00000344458.2	37	c.25C>T	CCDS33385.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.17	3.776201	0.70107	.	.	ENSG00000188760	ENST00000344458;ENST00000421791;ENST00000373883	.	.	.	3.94	3.94	0.45596	.	0.562550	0.17727	N	0.164020	T	0.39911	0.1096	N	0.08118	0	0.39157	D	0.962335	B	0.12013	0.005	B	0.01281	0.0	T	0.42899	-0.9424	9	0.66056	D	0.02	-9.0173	16.1416	0.81528	0.0:1.0:0.0:0.0	.	9	Q66K66	TM198_HUMAN	W	9	.	ENSP00000343507:R9W	R	+	1	2	TMEM198	220117718	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	2.182000	0.42556	2.226000	0.72624	0.555000	0.69702	CGG		0.617	TMEM198-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131063.1	NM_001005209		57	197	0	0	0	1	0	57	197				
PLEKHA4	57664	broad.mit.edu	37	19	49362745	49362745	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:49362745G>A	ENST00000263265.6	-	7	1228	c.673C>T	c.(673-675)Cgg>Tgg	p.R225W	PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W|PLEKHA4_ENST00000596713.1_5'UTR	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	225	Pro-rich.					cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol binding (GO:0005545)			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CTCGCCCTCCGCATCTGGAGT	0.637																																						ENST00000263265.6																			0				NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30						c.(673-675)Cgg>Tgg		pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4							45.0	39.0	41.0					19																	49362745		2203	4300	6503	SO:0001583	missense	0					cytoplasm|membrane	1-phosphatidylinositol binding	g.chr19:49362745G>A	AY007233	CCDS12737.1, CCDS54291.1	19q13.33	2013-01-10	2002-01-14			ENSG00000105559		"""Pleckstrin homology (PH) domain containing"""	14339	protein-coding gene	gene with protein product		607769	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 4"""			11001876	Standard	NM_020904		Approved	PEPP1	uc002pkx.3	Q9H4M7		ENST00000263265.6:c.673C>T	19.37:g.49362745G>A	ENSP00000263265:p.Arg225Trp					PLEKHA4_ENST00000596713.1_5'UTR|PLEKHA4_ENST00000355496.5_Missense_Mutation_p.R225W	p.R225W	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)	7	1228	-		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)	225			Pro-rich.		Q8N4M8|Q8N658	Missense_Mutation	SNP	ENST00000263265.6	37	c.673C>T	CCDS12737.1	.	.	.	.	.	.	.	.	.	.	G	13.25	2.179782	0.38511	.	.	ENSG00000105559	ENST00000263265;ENST00000355496	T;T	0.15834	2.99;2.39	4.7	2.52	0.30459	.	0.654908	0.13453	N	0.386789	T	0.15435	0.0372	L	0.27053	0.805	0.09310	N	1	D;D	0.71674	0.987;0.998	P;P	0.50896	0.653;0.65	T	0.10132	-1.0643	10	0.41790	T	0.15	.	5.648	0.17600	0.1:0.0:0.7059:0.1941	.	225;225	Q9H4M7-2;Q9H4M7	.;PKHA4_HUMAN	W	225	ENSP00000263265:R225W;ENSP00000347683:R225W	ENSP00000263265:R225W	R	-	1	2	PLEKHA4	54054557	0.004000	0.15560	0.354000	0.25760	0.004000	0.04260	0.418000	0.21230	0.691000	0.31592	0.462000	0.41574	CGG		0.637	PLEKHA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466216.1			181	149	0	0	0	1	0	181	149				
AJAP1	55966	broad.mit.edu	37	1	4772146	4772146	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:4772146G>A	ENST00000378191.4	+	2	597	c.216G>A	c.(214-216)gcG>gcA	p.A72A	AJAP1_ENST00000378190.3_Silent_p.A72A|AJAP1_ENST00000466761.1_3'UTR	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	72					cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A72A(1)		endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		GACAGCCAGCGCGGGTCCCGG	0.771																																						ENST00000378191.4																			1	Substitution - coding silent(1)	p.A72A(1)	urinary_tract(1)	endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24						c.(214-216)gcG>gcA		adherens junctions associated protein 1							9.0	13.0	12.0					1																	4772146		1651	3572	5223	SO:0001819	synonymous_variant	55966				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane		g.chr1:4772146G>A	AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.216G>A	1.37:g.4772146G>A						AJAP1_ENST00000466761.1_3'UTR|AJAP1_ENST00000378190.3_Silent_p.A72A	p.A72A	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)	2	597	+	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)	72					Q9Y229	Silent	SNP	ENST00000378191.4	37	c.216G>A	CCDS54.1																																																																																				0.771	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001542.3	NM_018836		32	78	0	0	0	1	0	32	78				
FGFR1	2260	broad.mit.edu	37	8	38275843	38275843	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:38275843G>A	ENST00000447712.2	-	10	2274	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	FGFR1_ENST00000341462.5_Missense_Mutation_p.R445W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R435W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R354W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R443W|FGFR1_ENST00000397103.1_Missense_Mutation_p.R356W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R443W|FGFR1_ENST00000356207.5_Missense_Mutation_p.R356W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R443W|FGFR1_ENST00000425967.3_Missense_Mutation_p.R476W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R443W	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	445					angiogenesis (GO:0001525)|auditory receptor cell development (GO:0060117)|axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell maturation (GO:0048469)|cell migration (GO:0016477)|chondrocyte differentiation (GO:0002062)|chordate embryonic development (GO:0043009)|embryonic limb morphogenesis (GO:0030326)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lung-associated mesenchyme development (GO:0060484)|MAPK cascade (GO:0000165)|mesenchymal cell differentiation (GO:0048762)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|outer ear morphogenesis (GO:0042473)|paraxial mesoderm development (GO:0048339)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of cell differentiation (GO:0045595)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of lateral mesodermal cell fate specification (GO:0048378)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ventricular zone neuroblast division (GO:0021847)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)	p.R445W(3)|p.R435W(1)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)	CGTGATGGCCGAACCAGAAGA	0.607		1	T	"""BCR, FOP, ZNF198, CEP1"""	"""MPD, NHL"""		"""Pfeiffer syndrome, Kallman syndrome"""																														Melanoma(146;1153 1840 21453 21841 43625)	ENST00000447712.2		1		Dom	yes		8	8p11.2-p11.1	2260	T	fibroblast growth factor receptor 1	yes	"""Pfeiffer syndrome, Kallman syndrome"""	L	"""BCR, FOP, ZNF198, CEP1"""		"""MPD, NHL"""	FGFR1/ZNF703(2)	4	Substitution - Missense(4)	p.R445W(3)|p.R435W(1)	lung(4)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50						c.(1333-1335)Cgg>Tgg		fibroblast growth factor receptor 1	Palifermin(DB00039)						44.0	51.0	48.0					8																	38275843		2129	4236	6365	SO:0001583	missense	2260				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	g.chr8:38275843G>A	M34185	CCDS6107.2, CCDS43730.1, CCDS43731.1, CCDS43732.1, CCDS55221.1, CCDS55222.1, CCDS55223.1	8p11.23-p11.22	2014-04-03	2008-08-01		ENSG00000077782	ENSG00000077782	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3688	protein-coding gene	gene with protein product	"""Pfeiffer syndrome"""	136350	"""fms-related tyrosine kinase 2"""	FLT2, KAL2		2162671	Standard	NM_015850		Approved	H2, H3, H4, H5, CEK, FLG, BFGFR, N-SAM, CD331	uc011lbu.2	P11362	OTTHUMG00000147366	ENST00000447712.2:c.1333C>T	8.37:g.38275843G>A	ENSP00000400162:p.Arg445Trp					FGFR1_ENST00000425967.3_Missense_Mutation_p.R476W|FGFR1_ENST00000397091.5_Missense_Mutation_p.R443W|FGFR1_ENST00000397103.1_Missense_Mutation_p.R356W|FGFR1_ENST00000397108.4_Missense_Mutation_p.R443W|FGFR1_ENST00000397113.2_Missense_Mutation_p.R443W|FGFR1_ENST00000356207.5_Missense_Mutation_p.R356W|FGFR1_ENST00000341462.5_Missense_Mutation_p.R445W|FGFR1_ENST00000335922.5_Missense_Mutation_p.R435W|FGFR1_ENST00000326324.6_Missense_Mutation_p.R354W|FGFR1_ENST00000532791.1_Missense_Mutation_p.R443W	p.R445W	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		10	2274	-	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	445					A8K6T9|A8K8V5|C1KBH8|P17049|Q02063|Q02065|Q14306|Q14307|Q53H63|Q59H40|Q5BJG2|Q8N685|Q9UD50|Q9UDF0|Q9UDF1|Q9UDF2	Missense_Mutation	SNP	ENST00000447712.2	37	c.1333C>T	CCDS6107.2	.	.	.	.	.	.	.	.	.	.	G	19.77	3.888857	0.72524	.	.	ENSG00000077782	ENST00000397091;ENST00000425967;ENST00000447712;ENST00000341462;ENST00000310729;ENST00000532791;ENST00000397113;ENST00000356207;ENST00000335922;ENST00000326324;ENST00000397103;ENST00000397108	D;D;D;D;D;D;D;D;D;D;D	0.89875	-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58;-2.58	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	M	0.89534	3.04	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;0.999;1.0;1.0	D	0.95698	0.8746	10	0.87932	D	0	.	14.3551	0.66733	0.0:0.0:0.8519:0.1481	.	354;354;445;435;443	P11362-14;P11362-4;P11362;P11362-20;P11362-2	.;.;FGFR1_HUMAN;.;.	W	443;476;445;445;445;443;443;356;435;354;356;443	ENSP00000380280:R443W;ENSP00000393312:R476W;ENSP00000400162:R445W;ENSP00000340636:R445W;ENSP00000432972:R443W;ENSP00000380302:R443W;ENSP00000348537:R356W;ENSP00000337247:R435W;ENSP00000327229:R354W;ENSP00000380292:R356W;ENSP00000380297:R443W	ENSP00000311337:R445W	R	-	1	2	FGFR1	38395000	0.957000	0.32711	0.989000	0.46669	0.475000	0.33008	1.615000	0.36922	2.678000	0.91216	0.655000	0.94253	CGG		0.607	FGFR1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				7	892	0	0	0	1	0	7	892				
RPTN	126638	broad.mit.edu	37	1	152128689	152128689	+	Missense_Mutation	SNP	C	C	T	rs201025925		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:152128689C>T	ENST00000316073.3	-	3	950	c.886G>A	c.(886-888)Ggt>Agt	p.G296S		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	296	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TCCGTCTGACCGTAGTGGGAA	0.498													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22400	0.0		0.0	False		,,,				2504	0.0					ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(886-888)Ggt>Agt		repetin							597.0	514.0	540.0					1																	152128689		1568	3582	5150	SO:0001583	missense	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152128689C>T	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.886G>A	1.37:g.152128689C>T	ENSP00000317895:p.Gly296Ser						p.G296S	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	950	-			296			Gln-rich.		B7ZBZ3	Missense_Mutation	SNP	ENST00000316073.3	37	c.886G>A	CCDS41397.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	16.30	3.083172	0.55861	.	.	ENSG00000215853	ENST00000316073	T	0.12984	2.63	4.73	-0.515	0.11954	.	.	.	.	.	T	0.07098	0.0180	L	0.33792	1.035	0.09310	N	1	D	0.65815	0.995	P	0.54140	0.743	T	0.25398	-1.0133	9	0.49607	T	0.09	-8.2231	8.1514	0.31143	0.0:0.4582:0.0:0.5418	.	296	Q6XPR3	RPTN_HUMAN	S	296	ENSP00000317895:G296S	ENSP00000317895:G296S	G	-	1	0	RPTN	150395313	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.770000	0.04705	0.098000	0.17522	-0.409000	0.06214	GGT		0.498	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		10	2346	0	0	0	1	0	10	2346				
REG1P	5969	broad.mit.edu	37	2	79365058	79365058	+	RNA	SNP	G	G	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:79365058G>T	ENST00000444841.1	-	0	166									regenerating islet-derived 1 pseudogene																		CAGGGCTGGGGTTGTGGGAGG	0.483																																						ENST00000444841.1																			0																																																			0							g.chr2:79365058G>T			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79365058G>T														0	166	-									RNA	SNP	ENST00000444841.1	37																																																																																						0.483	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		17	46	1	0	4.7546e-09	1	4.93647e-09	17	46				
NBPF20	100288142	broad.mit.edu	37	1	148346684	148346684	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:148346684G>A	ENST00000369202.1	-	2	270	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C			Q3BBV1	NBPFK_HUMAN	neuroblastoma breakpoint family, member 20	25						cytoplasm (GO:0005737)		p.R25C(1)		breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						AACTGGGGGCGCAATTTCTCG	0.507																																						ENST00000369202.1																			1	Substitution - Missense(1)	p.R25C(1)	lung(1)	breast(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	27						c.(73-75)Cgc>Tgc		neuroblastoma breakpoint family, member 20							49.0	57.0	54.0					1																	148346684		2125	4271	6396	SO:0001583	missense	100288142							g.chr1:148346684G>A		CCDS72856.1	1q21.2	2014-01-16			ENSG00000203832			"""neuroblastoma breakpoint family"""	32000	protein-coding gene	gene with protein product		614007				16079250	Standard	NM_001278267		Approved			Q3BBV1	OTTHUMG00000042439	ENST00000369202.1:c.73C>T	1.37:g.148346684G>A	ENSP00000358203:p.Arg25Cys					NBPF20_ENST00000414710.2_Missense_Mutation_p.R25C	p.R25C							2	270	-									Missense_Mutation	SNP	ENST00000369202.1	37	c.73C>T		.	.	.	.	.	.	.	.	.	.	.	5.006	0.186830	0.09547	.	.	ENSG00000203832	ENST00000369202;ENST00000369188;ENST00000414710	T;T;T	0.04917	3.85;3.91;3.53	0.521	0.521	0.17046	.	.	.	.	.	T	0.05044	0.0135	.	.	.	0.23751	N	0.996944	D;B	0.56521	0.976;0.024	P;B	0.52066	0.689;0.012	T	0.34925	-0.9809	6	0.48119	T	0.1	.	.	.	.	.	25;25	Q6P3W6;F5H1Q5	NBPFA_HUMAN;.	C	25	ENSP00000358203:R25C;ENSP00000358189:R25C;ENSP00000389520:R25C	ENSP00000358189:R25C	R	-	1	0	NBPF20	146713308	0.005000	0.15991	0.001000	0.08648	0.003000	0.03518	1.201000	0.32259	0.529000	0.28599	0.184000	0.17185	CGC		0.507	NBPF20-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000100689.2			7	1166	0	0	0	1	0	7	1166				
ARHGEF4	50649	broad.mit.edu	37	2	131797606	131797606	+	Silent	SNP	C	C	T	rs551214782		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:131797606C>T	ENST00000326016.5	+	7	1284	c.765C>T	c.(763-765)gaC>gaT	p.D255D	ARHGEF4_ENST00000409303.1_Silent_p.D255D|ARHGEF4_ENST00000392953.3_Silent_p.D255D|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Silent_p.D255D|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000355771.3_Silent_p.D184D	NM_015320.2	NP_056135.2	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	255					apoptotic signaling pathway (GO:0097190)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein domain specific binding (GO:0019904)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGAATCAGGACGAGCCCGCGG	0.731																																						ENST00000392953.3																			0				NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29						c.(763-765)gaC>gaT		Rho guanine nucleotide exchange factor (GEF) 4							26.0	28.0	28.0					2																	131797606		2166	4258	6424	SO:0001819	synonymous_variant	50649				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity	g.chr2:131797606C>T	AL137289	CCDS2165.1, CCDS42754.1	2q22	2013-01-10			ENSG00000136002	ENSG00000136002		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	684	protein-coding gene	gene with protein product	"""APC-stimulated guanine nucleotide exchange factor"""	605216				10873612	Standard	NM_015320		Approved	STM6, KIAA1112, ASEF	uc002tsa.1	Q9NR80	OTTHUMG00000131657	ENST00000326016.5:c.765C>T	2.37:g.131797606C>T						ARHGEF4_ENST00000355771.3_Silent_p.D184D|ARHGEF4_ENST00000525839.1_Silent_p.D255D|ARHGEF4_ENST00000409303.1_Silent_p.D255D|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000326016.5_Silent_p.D255D|ARHGEF4_ENST00000428230.2_Intron	p.D255D	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.097)	7	1284	+		Prostate(154;0.055)	255					Q9HDC6|Q9UPP0	Silent	SNP	ENST00000326016.5	37	c.765C>T	CCDS2165.1																																																																																				0.731	ARHGEF4-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000254554.4			3	15	0	0	0	1	0	3	15				
PDZRN4	29951	broad.mit.edu	37	12	41966931	41966931	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:41966931G>A	ENST00000402685.2	+	10	2358	c.2350G>A	c.(2350-2352)Gga>Aga	p.G784R	PDZRN4_ENST00000539469.2_Missense_Mutation_p.G526R|PDZRN4_ENST00000298919.7_Missense_Mutation_p.G524R	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	784			G -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.				ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G526R(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GTCCTCTTCCGGACAGAGCAG	0.512																																						ENST00000298919.7																			1	Substitution - Missense(1)	p.G526R(1)	large_intestine(1)	breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77						c.(1570-1572)Gga>Aga		PDZ domain containing ring finger 4							109.0	109.0	109.0					12																	41966931		2203	4300	6503	SO:0001583	missense	29951						ubiquitin-protein ligase activity|zinc ion binding	g.chr12:41966931G>A	AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.2350G>A	12.37:g.41966931G>A	ENSP00000384197:p.Gly784Arg					PDZRN4_ENST00000402685.2_Missense_Mutation_p.G784R|PDZRN4_ENST00000539469.2_Missense_Mutation_p.G526R	p.G524R			Q6ZMN7	PZRN4_HUMAN			10	1958	+	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)	784					Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	ENST00000402685.2	37	c.1570G>A	CCDS53777.1	.	.	.	.	.	.	.	.	.	.	G	0.033	-1.323271	0.01309	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.43294	0.95;0.95;0.95	5.02	3.16	0.36331	.	1.516350	0.03598	N	0.232999	T	0.29524	0.0736	N	0.16656	0.425	0.29554	N	0.851159	B;B;B	0.13145	0.006;0.007;0.003	B;B;B	0.08055	0.002;0.003;0.003	T	0.23190	-1.0195	10	0.17832	T	0.49	-16.4014	9.327	0.37999	0.2387:0.0:0.7613:0.0	.	784;524;526	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	R	784;526;524	ENSP00000384197:G784R;ENSP00000439990:G526R;ENSP00000298919:G524R	ENSP00000298919:G524R	G	+	1	0	PDZRN4	40253198	0.921000	0.31238	0.178000	0.23040	0.064000	0.16182	1.339000	0.33885	0.763000	0.33175	0.650000	0.86243	GGA		0.512	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403701.1	NM_013377		5	577	0	0	0	1	0	5	577				
ZNF845	91664	broad.mit.edu	37	19	53855452	53855452	+	Silent	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:53855452A>G	ENST00000595091.1	+	5	1743	c.1524A>G	c.(1522-1524)tcA>tcG	p.S508S	ZNF845_ENST00000458035.1_Silent_p.S508S			Q96IR2	ZN845_HUMAN	zinc finger protein 845	508					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(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTTTCAAATCAAACCTTGAAA	0.388																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(1522-1524)tcA>tcG		zinc finger protein 845							22.0	21.0	21.0					19																	53855452		692	1590	2282	SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53855452A>G	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.1524A>G	19.37:g.53855452A>G						ZNF845_ENST00000595091.1_Silent_p.S508S	p.S508S	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	1641	+			508						Silent	SNP	ENST00000595091.1	37	c.1524A>G	CCDS46170.1																																																																																				0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		8	397	0	0	0	1	0	8	397				
SESTD1	91404	broad.mit.edu	37	2	180014068	180014068	+	Missense_Mutation	SNP	C	C	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:180014068C>G	ENST00000428443.3	-	7	853	c.537G>C	c.(535-537)ttG>ttC	p.L179F		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	179							phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			CATTGTTAATCAAAGCAAGTT	0.294																																						ENST00000428443.3																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30						c.(535-537)ttG>ttC		SEC14 and spectrin domains 1							90.0	79.0	83.0					2																	180014068		2201	4297	6498	SO:0001583	missense	91404				regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding	g.chr2:180014068C>G	AK096232	CCDS33338.1	2q31.3	2014-01-28			ENSG00000187231	ENSG00000187231			18379	protein-coding gene	gene with protein product						12837271	Standard	NM_178123		Approved	DKFZp434O0515, Solo	uc002uni.4	Q86VW0	OTTHUMG00000154554	ENST00000428443.3:c.537G>C	2.37:g.180014068C>G	ENSP00000415332:p.Leu179Phe						p.L179F	NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)		7	853	-			179					Q53R38|Q53SP3|Q5GM69|Q8N6M1|Q96LQ2	Missense_Mutation	SNP	ENST00000428443.3	37	c.537G>C	CCDS33338.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.269212	0.23221	.	.	ENSG00000187231	ENST00000428443	T	0.05258	3.47	5.45	3.65	0.41850	.	0.133962	0.48286	D	0.000189	T	0.02610	0.0079	N	0.08118	0	0.47123	D	0.999326	B	0.29085	0.232	B	0.27170	0.077	T	0.50988	-0.8762	9	.	.	.	-11.3706	3.1066	0.06344	0.1961:0.5273:0.0:0.2766	.	179	Q86VW0	SESD1_HUMAN	F	179	ENSP00000415332:L179F	.	L	-	3	2	SESTD1	179722313	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	0.934000	0.28910	1.296000	0.44742	0.655000	0.94253	TTG		0.294	SESTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335916.2	NM_178123		19	87	0	0	0	1	0	19	87				
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:114270000G>A	ENST00000393494.2	+	5	816	c.537G>A	c.(535-537)caG>caA	p.Q179Q	FOXP2_ENST00000393500.3_Silent_p.Q104Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000360232.4_Silent_p.Q179Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498																																						ENST00000393500.3																			1	Substitution - coding silent(1)	p.Q204Q(1)	lung(1)	breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						c.(310-312)caG>caA		forkhead box P2							41.0	38.0	39.0					7																	114270000		2199	4282	6481	SO:0001819	synonymous_variant	93986				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	g.chr7:114270000G>A	U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.537G>A	7.37:g.114270000G>A						FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000350908.4_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q	p.Q104Q			O15409	FOXP2_HUMAN			11	1132	+			179			Gln-rich.		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Silent	SNP	ENST00000393494.2	37	c.312G>A	CCDS5760.1																																																																																				0.498	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317366.1	NM_014491		8	202	0	0	0	1	0	8	202				
TPTE	7179	broad.mit.edu	37	21	10951332	10951332	+	Missense_Mutation	SNP	C	C	T	rs113140892	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:10951332C>T	ENST00000361285.4	-	10	709	c.380G>A	c.(379-381)cGt>cAt	p.R127H	TPTE_ENST00000298232.7_Missense_Mutation_p.R109H|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R89H	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	127					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.R109H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAAATAGAACGATACTCCAA	0.338																																						ENST00000298232.7																			1	Substitution - Missense(1)	p.R109H(1)	central_nervous_system(1)	NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.(325-327)cGt>cAt		transmembrane phosphatase with tensin homology		C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	99.0	107.0	104.0		326,266,380	0.9	0.0	21	dbSNP_132	104	1,8593		0,1,4296	no	missense,missense,missense	TPTE	NM_199259.2,NM_199260.2,NM_199261.2	29,29,29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,benign	109/534,89/514,127/552	10951332	1,12999	2203	4297	6500	SO:0001583	missense	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10951332C>T	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.380G>A	21.37:g.10951332C>T	ENSP00000355208:p.Arg127His					TPTE_ENST00000361285.4_Missense_Mutation_p.R127H|TPTE_ENST00000342420.5_Missense_Mutation_p.R89H|TPTE_ENST00000415664.2_5'UTR	p.R109H	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	9	693	-			127					B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Missense_Mutation	SNP	ENST00000361285.4	37	c.326G>A	CCDS13560.2	.	.	.	.	.	.	.	.	.	.	.	9.751	1.167533	0.21621	0.0	1.16E-4	ENSG00000166157	ENST00000298232;ENST00000361285;ENST00000342420;ENST00000328758	D;D;D	0.97430	-4.38;-4.38;-4.38	1.8	0.877	0.19145	.	0.456228	0.21930	U	0.067036	D	0.92140	0.7508	L	0.49126	1.545	0.09310	N	1	P;P;P	0.39759	0.687;0.687;0.56	B;B;B	0.30716	0.119;0.119;0.056	D	0.86249	0.1648	10	0.52906	T	0.07	-1.829	4.1712	0.10331	0.0:0.7811:0.0:0.2189	.	89;109;127	P56180-3;P56180-2;P56180	.;.;TPTE_HUMAN	H	109;127;89;109	ENSP00000298232:R109H;ENSP00000355208:R127H;ENSP00000344441:R89H	ENSP00000298232:R109H	R	-	2	0	TPTE	9973203	0.000000	0.05858	0.031000	0.17742	0.132000	0.20833	-0.561000	0.05957	0.313000	0.23062	0.194000	0.17425	CGT		0.338	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1			67	654	0	0	0	1	0	67	654				
RANBP2	5903	broad.mit.edu	37	2	109371692	109371692	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:109371692T>C	ENST00000283195.6	+	17	2569	c.2443T>C	c.(2443-2445)Tgc>Cgc	p.C815R		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	815					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAAATGATTTGCCAACAAGT	0.348																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.(2443-2445)Tgc>Cgc		RAN binding protein 2							155.0	170.0	165.0					2																	109371692		2202	4299	6501	SO:0001583	missense	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371692T>C	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2443T>C	2.37:g.109371692T>C	ENSP00000283195:p.Cys815Arg						p.C815R	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2569	+			815					Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	ENST00000283195.6	37	c.2443T>C	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	t	12.30	1.895881	0.33442	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.24350	1.86	5.8	5.8	0.92144	.	.	.	.	.	T	0.40839	0.1133	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.11542	-1.0583	9	0.36615	T	0.2	-2.8232	16.1496	0.81605	0.0:0.0:0.0:1.0	.	815	P49792	RBP2_HUMAN	R	815	ENSP00000283195:C815R	ENSP00000283195:C815R	C	+	1	0	RANBP2	108738124	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.914000	0.75764	2.210000	0.71456	0.443000	0.29094	TGC		0.348	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267		7	710	0	0	0	1	0	7	710				
GPR26	2849	broad.mit.edu	37	10	125426411	125426411	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:125426411C>T	ENST00000284674.1	+	1	541	c.488C>T	c.(487-489)cCa>cTa	p.P163L		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	163					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				AGCCGGCGGCCAGACGAGCGC	0.682																																						ENST00000284674.1																			0				breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20						c.(487-489)cCa>cTa		G protein-coupled receptor 26							18.0	17.0	17.0					10																	125426411		2202	4296	6498	SO:0001583	missense	2849				activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:125426411C>T		CCDS7636.1	10q26.2-q26.3	2012-08-21			ENSG00000154478	ENSG00000154478		"""GPCR / Class A : Orphans"""	4481	protein-coding gene	gene with protein product		604847					Standard	NM_153442		Approved		uc001lhh.3	Q8NDV2	OTTHUMG00000019204	ENST00000284674.1:c.488C>T	10.37:g.125426411C>T	ENSP00000284674:p.Pro163Leu						p.P163L	NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN			1	541	+		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)	163					Q2M2E2	Missense_Mutation	SNP	ENST00000284674.1	37	c.488C>T	CCDS7636.1	.	.	.	.	.	.	.	.	.	.	C	10.87	1.472992	0.26423	.	.	ENSG00000154478	ENST00000284674	T	0.39229	1.09	4.02	3.02	0.34903	GPCR, rhodopsin-like superfamily (1);	0.137029	0.49916	D	0.000132	T	0.28632	0.0709	L	0.36672	1.1	0.51233	D	0.99991	B	0.09022	0.002	B	0.11329	0.006	T	0.07195	-1.0785	10	0.20046	T	0.44	-26.7238	8.7659	0.34702	0.1627:0.7461:0.0:0.0912	.	163	Q8NDV2	GPR26_HUMAN	L	163	ENSP00000284674:P163L	ENSP00000284674:P163L	P	+	2	0	GPR26	125416401	1.000000	0.71417	0.902000	0.35471	0.707000	0.40811	4.679000	0.61649	2.067000	0.61834	0.655000	0.94253	CCA		0.682	GPR26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050850.1			15	66	0	0	0	1	0	15	66				
CNTNAP3B	728577	broad.mit.edu	37	9	43828154	43828154	+	Silent	SNP	T	T	C	rs140150445	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:43828154T>C	ENST00000377564.3	+	9	1803	c.1410T>C	c.(1408-1410)gaT>gaC	p.D470D		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	470	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						TGGTGGTGGATGATGACACAG	0.488													N|||	1183	0.236222	0.1959	0.2205	5008	,	,		7253	0.4127		0.2316	False		,,,				2504	0.1247					ENST00000377564.3																			0				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						c.(1408-1410)gaT>gaC		contactin associated protein-like 3B																																				SO:0001819	synonymous_variant	728577				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr9:43828154T>C	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1410T>C	9.37:g.43828154T>C							p.D470D	NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN			9	1803	+			470			Laminin G-like 2.		B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Silent	SNP	ENST00000377564.3	37	c.1410T>C	CCDS55312.1	384	0.17582417582417584	58	0.11788617886178862	46	0.1270718232044199	151	0.263986013986014	129	0.17018469656992086	N	2.598	-0.293646	0.05568	.	.	ENSG00000154529	ENST00000377561	.	.	.	2.66	-2.45	0.06481	.	.	.	.	.	T	0.00012	0.0000	.	.	.	0.54753	P	1.6000000000016E-5	.	.	.	.	.	.	T	0.26052	-1.0114	3	.	.	.	.	8.7373	0.34537	0.0:0.505:0.0:0.495	.	.	.	.	T	519	.	.	M	+	2	0	CNTNAP3B	43768150	0.002000	0.14202	0.000000	0.03702	0.123000	0.20343	-1.157000	0.03157	-0.975000	0.03546	-2.339000	0.00246	ATG		0.488	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036930.3			4	62	0	0	0	1	0	4	62				
MYT1L	23040	broad.mit.edu	37	2	1893097	1893097	+	Silent	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:1893097G>A	ENST00000399161.2	-	16	3183	c.2436C>T	c.(2434-2436)ggC>ggT	p.G812G	MYT1L_ENST00000428368.2_Silent_p.G810G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	812					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|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)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AGTCGCCCTCGCCCAGCTGGA	0.582																																						ENST00000399161.2																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97						c.(2434-2436)ggC>ggT		myelin transcription factor 1-like							71.0	77.0	75.0					2																	1893097		2041	4156	6197	SO:0001819	synonymous_variant	23040				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr2:1893097G>A	AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.2436C>T	2.37:g.1893097G>A						MYT1L_ENST00000428368.2_Silent_p.G810G	p.G812G	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)	16	3183	-	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)	812					A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Silent	SNP	ENST00000399161.2	37	c.2436C>T																																																																																					0.582	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000322493.1	NM_015025		77	209	0	0	0	1	0	77	209				
SGSM1	129049	broad.mit.edu	37	22	25294015	25294015	+	Missense_Mutation	SNP	A	A	G	rs373981289		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:25294015A>G	ENST00000400359.4	+	20	2271	c.2264A>G	c.(2263-2265)aAt>aGt	p.N755S	SGSM1_ENST00000400358.4_Missense_Mutation_p.N700S	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	755	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AAGATCCCCAATGGGAACCTA	0.552																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(2098-2100)aAt>aGt		small G protein signaling modulator 1		A	SER/ASN,SER/ASN,SER/ASN,SER/ASN	0,4072		0,0,2036	66.0	77.0	74.0		2264,2099,1916,2081	3.1	1.0	22		74	1,8387		0,1,4193	no	missense,missense,missense,missense	SGSM1	NM_001039948.2,NM_001098497.1,NM_001098498.1,NM_133454.2	46,46,46,46	0,1,6229	GG,GA,AA		0.0119,0.0,0.0080	probably-damaging,probably-damaging,probably-damaging,probably-damaging	755/1149,700/1094,639/1033,694/1088	25294015	1,12459	2036	4194	6230	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25294015A>G	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2264A>G	22.37:g.25294015A>G	ENSP00000383212:p.Asn755Ser					SGSM1_ENST00000400359.4_Missense_Mutation_p.N755S	p.N700S	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			19	2156	+			755			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.2099A>G	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	A	8.860	0.946679	0.18356	0.0	1.19E-4	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.06608	3.29;3.28	5.24	3.13	0.36017	Rab-GAP/TBC domain (2);	0.054567	0.64402	U	0.000001	T	0.05640	0.0148	N	0.25890	0.77	0.50467	D	0.999874	P;P;P;P	0.50369	0.571;0.934;0.914;0.85	B;P;P;P	0.49276	0.121;0.53;0.605;0.449	T	0.33214	-0.9877	10	0.05351	T	0.99	-9.6086	8.7962	0.34881	0.8466:0.0:0.1534:0.0	.	700;755;772;755	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	S	755;700;755	ENSP00000383211:N700S;ENSP00000383212:N755S	ENSP00000383211:N700S	N	+	2	0	SGSM1	23624015	1.000000	0.71417	0.991000	0.47740	0.987000	0.75469	4.392000	0.59659	0.419000	0.25927	0.482000	0.46254	AAT		0.552	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		68	61	0	0	0	1	0	68	61				
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	A	rs121913529		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:25398284C>A	ENST00000256078.4	-	2	98	c.35G>T	c.(34-36)gGt>gTt	p.G12V	KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000311936.3_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	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>gTt		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>A	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>T	12.37:g.25398284C>A	ENSP00000256078:p.Gly12Val	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)				KRAS_ENST00000556131.1_Missense_Mutation_p.G12V|KRAS_ENST00000256078.4_Missense_Mutation_p.G12V|KRAS_ENST00000557334.1_Missense_Mutation_p.G12V	p.G12V	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>T	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.2	4.808637	0.90707	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90373	0.6987	M	0.90650	3.135	0.80722	D	1	D;D	0.76494	0.997;0.999	D;D	0.72625	0.969;0.978	D	0.91773	0.5429	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	V	12	ENSP00000308495:G12V;ENSP00000452512:G12V;ENSP00000256078:G12V;ENSP00000451856:G12V	ENSP00000256078:G12V	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		101	89	1	0	3.0332e-58	1	3.2196e-58	101	89				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					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.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		7	238	0	0	0	1	0	7	238				
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	RNA	SNP	G	G	A	rs201972834		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	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		8	32	0	0	0	1	0	8	32				
AHNAK	79026	broad.mit.edu	37	11	62295897	62295897	+	Silent	SNP	G	G	A	rs574331119		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:62295897G>A	ENST00000378024.4	-	5	6266	c.5992C>T	c.(5992-5994)Ctg>Ttg	p.L1998L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1998					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.L1998L(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGGCCTTTCAGGTGTAAGTCC	0.483													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23967	0.0		0.0	False		,,,				2504	0.0					ENST00000378024.4																			1	Substitution - coding silent(1)	p.L1998L(1)	endometrium(1)	NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5992-5994)Ctg>Ttg		AHNAK nucleoprotein							333.0	337.0	336.0					11																	62295897		2202	4299	6501	SO:0001819	synonymous_variant	79026				nervous system development	nucleus	protein binding	g.chr11:62295897G>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5992C>T	11.37:g.62295897G>A						AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.L1998L	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6266	-		Melanoma(852;0.155)	1998					A1A586	Silent	SNP	ENST00000378024.4	37	c.5992C>T	CCDS31584.1																																																																																				0.483	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		7	1634	0	0	0	1	0	7	1634				
SNX29P2	440352	broad.mit.edu	37	16	29376089	29376089	+	RNA	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:29376089C>T	ENST00000507381.1	+	0	828				SNX29P2_ENST00000398878.3_lincRNA			Q8IUI4	S29P2_HUMAN	sorting nexin 29 pseudogene 2									p.S125F(1)									GAGCAGAACTCTGGGGACATG	0.453																																						ENST00000398878.3																			1	Substitution - Missense(1)	p.S125F(1)	kidney(1)																	45.0	52.0	50.0					16																	29376089		2192	4295	6487			0							g.chr16:29376089C>T	BX648280		16p11.2	2014-03-21	2011-08-16	2011-08-16	ENSG00000198106	ENSG00000198106			31914	pseudogene	pseudogene			"""RUN domain containing 2C"""	RUNDC2C			Standard	NR_002939		Approved		uc021tfw.1	Q8IUI4			16.37:g.29376089C>T						SNX29P2_ENST00000507381.1_RNA								0	1517	+									RNA	SNP	ENST00000507381.1	37			.	.	.	.	.	.	.	.	.	.	C	0.868	-0.732981	0.03135	.	.	ENSG00000198106	ENST00000398878;ENST00000507381;ENST00000356328	.	.	.	1.53	0.484	0.16825	.	0.744318	0.13310	N	0.397537	T	0.25344	0.0616	.	.	.	0.23696	N	0.997083	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.18840	-1.0324	8	0.52906	T	0.07	-18.9288	2.8458	0.05542	0.0:0.4958:0.3074:0.1968	.	125;144	Q8IUI4;E9PDE2	RUN2B_HUMAN;.	F	125;144;125	.	ENSP00000348682:S125F	S	+	2	0	RUNDC2C	29283590	0.981000	0.34729	0.309000	0.25155	0.240000	0.25518	2.024000	0.41049	0.185000	0.20105	-0.746000	0.03513	TCT		0.453	SNX29P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000361855.1	NR_002939		7	267	0	0	0	1	0	7	267				
CHDC2	286464	broad.mit.edu	37	X	36090000	36090000	+	Silent	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:36090000T>C	ENST00000313548.4	+	3	288	c.102T>C	c.(100-102)gcT>gcC	p.A34A		NM_173695.2	NP_775966.1	Q8N9S7	CHDC2_HUMAN	calponin homology domain containing 2	34						integral component of membrane (GO:0016021)											ACCAGGATGCTAAACCACCCT	0.378																																						ENST00000378660.1																			0											c.(100-102)gcT>gcC		calponin homology domain containing 2							93.0	78.0	83.0					X																	36090000		2202	4300	6502	SO:0001819	synonymous_variant	286464							g.chrX:36090000T>C	AK093920	CCDS14238.1	Xp21.1	2014-08-07	2012-11-28	2012-11-28	ENSG00000176034	ENSG00000176034			26708	protein-coding gene	gene with protein product			"""chromosome X open reading frame 59"""	CXorf59			Standard	NM_173695		Approved	FLJ36601, RP13-11B7.1	uc004ddk.1	Q8N9S7	OTTHUMG00000021351	ENST00000313548.4:c.102T>C	X.37:g.36090000T>C						CHDC2_ENST00000313548.4_Silent_p.A34A	p.A34A							3	290	+									Silent	SNP	ENST00000313548.4	37	c.102T>C	CCDS14238.1																																																																																				0.378	CHDC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_173695		48	46	0	0	0	1	0	48	46				
SIGLEC14	100049587	broad.mit.edu	37	19	52149092	52149092	+	Missense_Mutation	SNP	C	C	T	rs111981406	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52149092C>T	ENST00000360844.6	-	3	684	c.643G>A	c.(643-645)Gtg>Atg	p.V215M	SIGLEC5_ENST00000534261.2_5'Flank|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000222107.4_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	215	Ig-like C2-type 1.				cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.V215M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TGGCGTTTCACCTGACAGGTG	0.647													C|||	4	0.000798722	0.0	0.0	5008	,	,		10676	0.002		0.001	False		,,,				2504	0.001					ENST00000360844.6																			2	Substitution - Missense(2)	p.V215M(2)	central_nervous_system(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29						c.(643-645)Gtg>Atg		sialic acid binding Ig-like lectin 14							85.0	81.0	82.0					19																	52149092		2071	4198	6269	SO:0001583	missense	100049587				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	g.chr19:52149092C>T	AY854038	CCDS42604.1	19q13.41	2013-01-29			ENSG00000254415	ENSG00000254415		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32926	protein-coding gene	gene with protein product						17012248	Standard	NM_001098612		Approved		uc002pxf.4	Q08ET2	OTTHUMG00000165511	ENST00000360844.6:c.643G>A	19.37:g.52149092C>T	ENSP00000354090:p.Val215Met					SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000429354.3_Intron|SIGLEC5_ENST00000599649.1_Intron	p.V215M	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)	3	684	-		all_neural(266;0.0299)	215			Ig-like C2-type 1.		Q6UXG0	Missense_Mutation	SNP	ENST00000360844.6	37	c.643G>A	CCDS42604.1	5	0.0022893772893772895	1	0.0020325203252032522	0	0.0	3	0.005244755244755245	1	0.0013192612137203166	C	16.24	3.066375	0.55539	.	.	ENSG00000254415	ENST00000360844	D	0.89810	-2.57	3.1	3.1	0.35709	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.000000	0.41396	D	0.000886	D	0.90628	0.7061	M	0.85859	2.78	0.19775	N	0.999952	D	0.64830	0.994	P	0.60345	0.873	D	0.83788	0.0229	10	0.66056	D	0.02	.	9.82	0.40876	0.0:1.0:0.0:0.0	.	215	Q08ET2	SIG14_HUMAN	M	215	ENSP00000354090:V215M	ENSP00000354090:V215M	V	-	1	0	SIGLEC14	56840904	0.048000	0.20356	0.215000	0.23724	0.789000	0.44602	1.698000	0.37794	1.755000	0.51935	0.514000	0.50259	GTG		0.647	SIGLEC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466899.2	NM_001098612		5	339	0	0	0	1	0	5	339				
GRIA4	2893	broad.mit.edu	37	11	105836750	105836750	+	Intron	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:105836750G>A	ENST00000530497.1	+	14	2294				GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000393127.2_Missense_Mutation_p.D791N|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000525187.1_Missense_Mutation_p.D791N			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.D791N(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		ATGGTGGTACGACAAAGGAGA	0.418																																						ENST00000393127.2																			1	Substitution - Missense(1)	p.D791N(1)	skin(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82						c.(2371-2373)Gac>Aac		glutamate receptor, ionotropic, AMPA 4	L-Glutamic Acid(DB00142)						76.0	79.0	78.0					11																	105836750		2197	4299	6496	SO:0001627	intron_variant	0				glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	g.chr11:105836750G>A	U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.2295-5891G>A	11.37:g.105836750G>A						GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000525187.1_Missense_Mutation_p.D791N|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000533094.1_3'UTR	p.D791N	NM_001077243.2	NP_001070711.2	P48058	GRIA4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	15	2817	+		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)	791					Q86XE8	Missense_Mutation	SNP	ENST00000530497.1	37	c.2371G>A	CCDS8333.1	.	.	.	.	.	.	.	.	.	.	G	35	5.503792	0.96371	.	.	ENSG00000152578	ENST00000393127;ENST00000525187;ENST00000539249	T;T	0.38401	1.14;1.14	6.03	6.03	0.97812	.	.	.	.	.	T	0.57888	0.2084	L	0.52759	1.655	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.50448	-0.8827	9	0.46703	T	0.11	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	791	G3V164	.	N	791;791;96	ENSP00000376835:D791N;ENSP00000432180:D791N	ENSP00000376835:D791N	D	+	1	0	GRIA4	105341960	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.835000	0.99442	2.861000	0.98227	0.655000	0.94253	GAC		0.418	GRIA4-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000388593.1			68	105	0	0	0	1	0	68	105				
SIGLEC11	114132	broad.mit.edu	37	19	50462047	50462047	+	Missense_Mutation	SNP	A	A	C	rs201935510	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:50462047A>C	ENST00000447370.2	-	7	1306	c.1216T>G	c.(1216-1218)Tgg>Ggg	p.W406G	CTC-326K19.6_ENST00000451973.1_5'Flank|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	406	Ig-like C2-type 3.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GTCTGTCCCCACCGGGTCCAG	0.682																																						ENST00000447370.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32						c.(1216-1218)Tgg>Ggg		sialic acid binding Ig-like lectin 11							31.0	37.0	35.0					19																	50462047		2203	4299	6502	SO:0001583	missense	114132				cell adhesion	integral to membrane	sugar binding	g.chr19:50462047A>C	AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1216T>G	19.37:g.50462047A>C	ENSP00000412361:p.Trp406Gly					SIGLEC11_ENST00000426971.2_Missense_Mutation_p.W406G	p.W406G	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)	7	1306	-		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)	406			Ig-like C2-type 3.			Missense_Mutation	SNP	ENST00000447370.2	37	c.1216T>G	CCDS12790.2	.	.	.	.	.	.	.	.	.	.	A	0.410	-0.913951	0.02415	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.06608	3.28	2.6	0.235	0.15431	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	1.580110	0.03342	N	0.194914	T	0.00754	0.0025	N	0.00002	-3.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.50750	-0.8791	9	.	.	.	.	3.7679	0.08630	0.2384:0.6144:0.0:0.1472	.	406;406	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	G	406	ENSP00000412361:W406G	.	W	-	1	0	SIGLEC11	55153859	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.318000	0.08050	0.003000	0.14656	-1.045000	0.02358	TGG		0.682	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347382.1	NM_052884		7	406	0	0	0	1	0	7	406				
PIF1	80119	broad.mit.edu	37	15	65116102	65116102	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:65116102G>A	ENST00000268043.4	-	2	527	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PIF1_ENST00000333425.6_Missense_Mutation_p.R145C|PIF1_ENST00000559239.1_Missense_Mutation_p.R145C					PIF1 5'-to-3' DNA helicase											kidney(1)|lung(1)	2						ACGAAGTCGCGGGGCCGCGGG	0.761																																						ENST00000268043.4																			0				kidney(1)|lung(1)	2						c.(433-435)Cgc>Tgc		PIF1 5'-to-3' DNA helicase							4.0	5.0	5.0					15																	65116102		1528	3381	4909	SO:0001583	missense	80119				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding	g.chr15:65116102G>A	AK026345	CCDS10195.2, CCDS66797.1	15q22.1	2013-05-13	2013-05-13	2006-11-24	ENSG00000140451	ENSG00000140451	3.6.4.12		26220	protein-coding gene	gene with protein product		610953	"""chromosome 15 open reading frame 20"", ""PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae)"""	C15orf20		10926538, 16522649	Standard	NM_025049		Approved	FLJ22692	uc002ant.2	Q9H611	OTTHUMG00000132974	ENST00000268043.4:c.433C>T	15.37:g.65116102G>A	ENSP00000268043:p.Arg145Cys					PIF1_ENST00000559239.1_Missense_Mutation_p.R145C|PIF1_ENST00000333425.6_Missense_Mutation_p.R145C	p.R145C			Q9H611	PIF1_HUMAN			2	527	-			145						Missense_Mutation	SNP	ENST00000268043.4	37	c.433C>T	CCDS10195.2	.	.	.	.	.	.	.	.	.	.	G	14.41	2.528021	0.44969	.	.	ENSG00000140451	ENST00000268043;ENST00000333425	T;T	0.78364	-0.14;-1.17	4.47	4.47	0.54385	.	0.272984	0.35677	N	0.003051	T	0.80385	0.4613	M	0.61703	1.905	0.53688	D	0.999977	D;D	0.69078	0.968;0.997	B;P	0.49999	0.406;0.628	T	0.83148	-0.0105	10	0.59425	D	0.04	-11.2753	15.0059	0.71513	0.0:0.0:1.0:0.0	.	145;145	Q9H611-2;Q9H611	.;PIF1_HUMAN	C	145	ENSP00000268043:R145C;ENSP00000328174:R145C	ENSP00000268043:R145C	R	-	1	0	PIF1	62903155	1.000000	0.71417	0.996000	0.52242	0.071000	0.16799	4.455000	0.60075	2.188000	0.69820	0.313000	0.20887	CGC		0.761	PIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256533.1	NM_025049		15	29	0	0	0	1	0	15	29				
TBC1D3P2	440452	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498																																						ENST00000581291.1																			0				breast(2)|kidney(1)|lung(2)	5																																														0							g.chr17:60342186T>C			17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60342186T>C														0	1967	-									RNA	SNP	ENST00000581291.1	37																																																																																						0.498	TBC1D3P2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000445021.1	NR_027486		3	49	0	0	0	1	0	3	49				
PRMT8	56341	broad.mit.edu	37	12	3701463	3701463	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:3701463G>A	ENST00000382622.3	+	9	1436	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.R340Q	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	349	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)	p.R349Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTCACTGTCCGGAGGGGGGAG	0.542																																						ENST00000382622.3																			1	Substitution - Missense(1)	p.R349Q(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37						c.(1045-1047)cGg>cAg		protein arginine methyltransferase 8							123.0	124.0	124.0					12																	3701463		2203	4300	6503	SO:0001583	missense	56341				regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	g.chr12:3701463G>A	AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1046G>A	12.37:g.3701463G>A	ENSP00000372067:p.Arg349Gln					PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.R340Q	p.R349Q	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)		9	1436	+			349					B2RDP0|Q8TBJ8	Missense_Mutation	SNP	ENST00000382622.3	37	c.1046G>A	CCDS8521.2	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920919	0.52653	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.76316	-1.01;-1.01	5.24	5.24	0.73138	.	0.045992	0.85682	D	0.000000	T	0.68035	0.2957	N	0.25647	0.755	0.43476	D	0.995693	B;B	0.18863	0.031;0.01	B;B	0.16722	0.016;0.007	T	0.63462	-0.6632	10	0.37606	T	0.19	.	16.3206	0.82950	0.0:0.0:1.0:0.0	.	340;349	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	Q	340;349	ENSP00000414507:R340Q;ENSP00000372067:R349Q	ENSP00000372067:R349Q	R	+	2	0	PRMT8	3571724	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.377000	0.52425	2.440000	0.82611	0.561000	0.74099	CGG		0.542	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250297.2	NM_019854		5	488	0	0	0	1	0	5	488				
GRIK4	2900	broad.mit.edu	37	11	120776148	120776148	+	Silent	SNP	C	C	T	rs144767530		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:120776148C>T	ENST00000527524.2	+	13	1709	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	GRIK4_ENST00000438375.2_Silent_p.G474G	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	474					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.G474G(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		GCGTGTACGGCGTTCCCGAGG	0.612																																						ENST00000527524.2																			1	Substitution - coding silent(1)	p.G474G(1)	ovary(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1420-1422)ggC>ggT		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						133.0	131.0	132.0					11																	120776148		2203	4299	6502	SO:0001819	synonymous_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120776148C>T	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1422C>T	11.37:g.120776148C>T						GRIK4_ENST00000438375.2_Silent_p.G474G	p.G474G			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	13	1709	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	474					A8K9L1	Silent	SNP	ENST00000527524.2	37	c.1422C>T	CCDS8433.1																																																																																				0.612	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		244	361	0	0	0	1	0	244	361				
KY	339855	broad.mit.edu	37	3	134322916	134322916	+	Silent	SNP	G	G	A	rs142832129	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:134322916G>A	ENST00000423778.2	-	11	1552	c.1491C>T	c.(1489-1491)caC>caT	p.H497H	KY_ENST00000508956.1_Silent_p.H476H|KY_ENST00000503669.1_3'UTR	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	497					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CATCATCCCCGTGGAGGGAAG	0.617													G|||	30	0.00599042	0.0	0.0	5008	,	,		19751	0.0298		0.0	False		,,,				2504	0.0					ENST00000508956.1																			0				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						c.(1426-1428)caC>caT		kyphoscoliosis peptidase		G		2,4152		0,2,2075	33.0	35.0	34.0		1491	-3.1	0.9	3	dbSNP_134	34	1,8411		0,1,4205	no	coding-synonymous	KY	NM_178554.4		0,3,6280	AA,AG,GG		0.0119,0.0481,0.0239		497/662	134322916	3,12563	2077	4206	6283	SO:0001819	synonymous_variant	339855					cytoskeleton|Z disc	peptidase activity	g.chr3:134322916G>A	AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.1491C>T	3.37:g.134322916G>A						KY_ENST00000503669.1_3'UTR|KY_ENST00000423778.2_Silent_p.H497H	p.H476H			Q8NBH2	KY_HUMAN			10	1485	-			497					B7Z1S4|Q6ZT15	Silent	SNP	ENST00000423778.2	37	c.1428C>T	CCDS46920.1																																																																																				0.617	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357320.1	NM_178554		24	96	0	0	0	1	0	24	96				
MS4A1	931	broad.mit.edu	37	11	60235849	60235849	+	Nonsense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:60235849C>T	ENST00000534668.1	+	7	1091	c.802C>T	c.(802-804)Caa>Taa	p.Q268*	MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q268*|MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q255*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q268*|MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q101*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	268					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	TATTCCAATCCAAGAAGAGGA	0.373																																						ENST00000534668.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(802-804)Caa>Taa		membrane-spanning 4-domains, subfamily A, member 1	Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)						85.0	83.0	84.0					11																	60235849		2203	4300	6503	SO:0001587	stop_gained	931				B cell activation|immune response	integral to plasma membrane		g.chr11:60235849C>T	M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.802C>T	11.37:g.60235849C>T	ENSP00000433277:p.Gln268*					MS4A1_ENST00000532073.1_Nonsense_Mutation_p.Q255*|MS4A1_ENST00000389939.2_Nonsense_Mutation_p.Q268*|MS4A1_ENST00000528313.1_Nonsense_Mutation_p.Q101*|MS4A1_ENST00000345732.4_Nonsense_Mutation_p.Q268*	p.Q268*	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN			7	1091	+			268					A6NMS4|B4DT24|P08984|Q13963	Nonsense_Mutation	SNP	ENST00000534668.1	37	c.802C>T	CCDS31570.1	.	.	.	.	.	.	.	.	.	.	C	33	5.224347	0.95139	.	.	ENSG00000156738	ENST00000345732;ENST00000532073;ENST00000534668;ENST00000528313;ENST00000389939	.	.	.	5.32	3.34	0.38264	.	0.624912	0.17254	N	0.181052	.	.	.	.	.	.	0.51482	D	0.999925	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-22.9187	8.6631	0.34103	0.158:0.6261:0.2159:0.0	.	.	.	.	X	268;255;268;101;268	.	ENSP00000314620:Q268X	Q	+	1	0	MS4A1	59992425	0.973000	0.33851	0.913000	0.36048	0.966000	0.64601	2.113000	0.41902	0.651000	0.30788	0.655000	0.94253	CAA		0.373	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395402.1			52	199	0	0	0	1	0	52	199				
NCOA6	23054	broad.mit.edu	37	20	33345744	33345744	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:33345744C>T	ENST00000374796.2	-	8	3377	c.807G>A	c.(805-807)caG>caA	p.Q269Q	NCOA6_ENST00000359003.2_Silent_p.Q269Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	269	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development (GO:0007420)|cellular lipid metabolic process (GO:0044255)|cellular response to DNA damage stimulus (GO:0006974)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-templated transcription, initiation (GO:0006352)|glucocorticoid receptor signaling pathway (GO:0042921)|heart development (GO:0007507)|intracellular estrogen receptor signaling pathway (GO:0030520)|labyrinthine layer blood vessel development (GO:0060716)|myeloid cell differentiation (GO:0030099)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)	histone methyltransferase complex (GO:0035097)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q269Q(15)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgctgctgctgttgttgtt	0.537																																						ENST00000374796.2																			15	Substitution - coding silent(15)	p.Q269Q(15)	lung(5)|prostate(4)|endometrium(3)|central_nervous_system(1)|urinary_tract(1)|kidney(1)	NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						c.(805-807)caG>caA		nuclear receptor coactivator 6							64.0	52.0	56.0					20																	33345744		2203	4300	6503	SO:0001819	synonymous_variant	23054				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding	g.chr20:33345744C>T	AF128458	CCDS13241.1, CCDS74720.1	20q11	2008-08-01			ENSG00000198646	ENSG00000198646			15936	protein-coding gene	gene with protein product	"""nuclear receptor coactivator RAP250"", ""activating signal cointegrator-2"", ""peroxisome proliferator-activated receptor interacting protein"""	605299				8724849, 8263591	Standard	NM_014071		Approved	KIAA0181, RAP250, ASC2, AIB3, PRIP, TRBP, NRC	uc002xaw.3	Q14686	OTTHUMG00000032311	ENST00000374796.2:c.807G>A	20.37:g.33345744C>T						NCOA6_ENST00000359003.2_Silent_p.Q269Q	p.Q269Q			Q14686	NCOA6_HUMAN			8	3377	-			269			CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.		A6NLF1|B2RMN5|E1P5P7|Q9NTZ9|Q9UH74|Q9UK86	Silent	SNP	ENST00000374796.2	37	c.807G>A	CCDS13241.1																																																																																				0.537	NCOA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078811.2	NM_014071		13	238	0	0	0	1	0	13	238				
GPR153	387509	broad.mit.edu	37	1	6313858	6313858	+	Missense_Mutation	SNP	C	C	T	rs189356842		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:6313858C>T	ENST00000377893.2	-	3	965	c.706G>A	c.(706-708)Gcc>Acc	p.A236T		NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN	G protein-coupled receptor 153	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GAGGTTTTGGCGGGCTCCGAG	0.677													C|||	1	0.000199681	0.0	0.0014	5008	,	,		17995	0.0		0.0	False		,,,				2504	0.0					ENST00000377893.2																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14						c.(706-708)Gcc>Acc		G protein-coupled receptor 153							77.0	79.0	79.0					1																	6313858		2201	4300	6501	SO:0001583	missense	387509					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:6313858C>T	AY255529	CCDS64.1	1p36.31	2012-08-21			ENSG00000158292	ENSG00000158292		"""GPCR / Class A : Orphans"""	23618	protein-coding gene	gene with protein product		614269				12679517	Standard	NM_207370		Approved	PGR1	uc001amp.2	Q6NV75	OTTHUMG00000001272	ENST00000377893.2:c.706G>A	1.37:g.6313858C>T	ENSP00000367125:p.Ala236Thr						p.A236T	NM_207370.2	NP_997253.2	Q6NV75	GP153_HUMAN		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)	3	965	-	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)	236					Q5TGR5|Q6AHW8|Q86SP8	Missense_Mutation	SNP	ENST00000377893.2	37	c.706G>A	CCDS64.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	12.87	2.067016	0.36470	.	.	ENSG00000158292	ENST00000377893	T	0.71934	-0.61	4.9	3.77	0.43336	GPCR, rhodopsin-like superfamily (1);	0.373744	0.28914	N	0.013730	T	0.56949	0.2020	N	0.19112	0.55	0.29397	N	0.86221	D	0.54772	0.968	P	0.47346	0.544	T	0.53753	-0.8394	10	0.28530	T	0.3	-50.623	9.4756	0.38869	0.0:0.8127:0.0:0.1873	.	236	Q6NV75	GP153_HUMAN	T	236	ENSP00000367125:A236T	ENSP00000367125:A236T	A	-	1	0	GPR153	6236445	0.042000	0.20092	0.950000	0.38849	0.814000	0.46013	0.331000	0.19733	2.277000	0.76020	0.462000	0.41574	GCC		0.677	GPR153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003717.2			6	201	0	0	0	1	0	6	201				
OR14A16	284532	broad.mit.edu	37	1	247978702	247978702	+	Silent	SNP	C	C	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:247978702C>A	ENST00000357627.1	-	1	329	c.330G>T	c.(328-330)ctG>ctT	p.L110L		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TGAGGAGGAGCAGCTCTGCAG	0.468																																					Ovarian(112;180 1586 15073 21914 33526)	ENST00000357627.1																			0				breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						c.(328-330)ctG>ctT		olfactory receptor, family 14, subfamily A, member 16							108.0	102.0	104.0					1																	247978702		2203	4300	6503	SO:0001819	synonymous_variant	284532				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247978702C>A	BK004366	CCDS31097.1	1q44	2012-08-09	2008-04-02	2008-04-02	ENSG00000196772	ENSG00000196772		"""GPCR / Class A : Olfactory receptors"""	15022	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily AT, member 1"""	OR5AT1			Standard	NM_001001966		Approved		uc001idm.1	Q8NHC5	OTTHUMG00000040199	ENST00000357627.1:c.330G>T	1.37:g.247978702C>A							p.L110L	NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN			1	329	-			110					Q6IF96	Silent	SNP	ENST00000357627.1	37	c.330G>T	CCDS31097.1																																																																																				0.468	OR14A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096856.1	NM_001001966		69	300	1	0	4.83814e-26	1	5.10692e-26	69	300				
SLC7A2	6542	broad.mit.edu	37	8	17409385	17409385	+	Silent	SNP	G	G	A	rs141741899		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr8:17409385G>A	ENST00000494857.1	+	7	1163	c.945G>A	c.(943-945)ccG>ccA	p.P315P	SLC7A2_ENST00000522656.1_Silent_p.P315P|SLC7A2_ENST00000398090.3_Silent_p.P355P|SLC7A2_ENST00000470360.1_Silent_p.P355P|SLC7A2_ENST00000004531.10_Silent_p.P355P	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	315					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TTATGATGCCGTACTACCTCC	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		15404	0.0		0.0	False		,,,				2504	0.001					ENST00000470360.1																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(1063-1065)ccG>ccA		solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	L-Lysine(DB00123)|L-Ornithine(DB00129)	G	,,	2,4404	4.2+/-10.8	0,2,2201	216.0	200.0	205.0		945,1065,1065	-10.8	0.0	8	dbSNP_134	205	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	SLC7A2	NM_001008539.3,NM_001164771.1,NM_003046.5	,,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,,	315/659,355/699,355/698	17409385	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17409385G>A	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.945G>A	8.37:g.17409385G>A						SLC7A2_ENST00000398090.3_Silent_p.P355P|SLC7A2_ENST00000494857.1_Silent_p.P315P|SLC7A2_ENST00000522656.1_Silent_p.P315P|SLC7A2_ENST00000004531.10_Silent_p.P355P	p.P355P			P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	8	1182	+			315					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Silent	SNP	ENST00000494857.1	37	c.1065G>A	CCDS34852.1																																																																																				0.483	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046		5	398	0	0	0	1	0	5	398				
FCGBP	8857	broad.mit.edu	37	19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:40395919G>A	ENST00000221347.6	-	15	7485	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	2493	VWFD 6. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)		p.A2493V(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627																																						ENST00000221347.6																			1	Substitution - Missense(1)	p.A2493V(1)	urinary_tract(1)	NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165						c.(7477-7479)gCc>gTc		Fc fragment of IgG binding protein							214.0	180.0	192.0					19																	40395919		2152	3957	6109	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40395919G>A	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.7478C>T	19.37:g.40395919G>A	ENSP00000221347:p.Ala2493Val						p.A2493V	NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		15	7485	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		2493			VWFD 6.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.7478C>T	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698696	0.48307	.	.	ENSG00000090920	ENST00000221347	T	0.58210	0.35	2.91	2.91	0.33838	von Willebrand factor, type D domain (3);	.	.	.	.	T	0.43055	0.1230	N	0.22421	0.69	0.09310	N	1	B	0.29188	0.236	B	0.37989	0.262	T	0.36212	-0.9757	9	0.23302	T	0.38	.	13.0539	0.58969	0.0:0.0:1.0:0.0	.	2493	Q9Y6R7	FCGBP_HUMAN	V	2493	ENSP00000221347:A2493V	ENSP00000221347:A2493V	A	-	2	0	FCGBP	45087759	0.000000	0.05858	0.012000	0.15200	0.130000	0.20726	0.716000	0.25836	1.649000	0.50652	0.298000	0.19748	GCC		0.627	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890		8	1039	0	0	0	1	0	8	1039				
TRIM48	79097	broad.mit.edu	37	11	55035844	55035844	+	Missense_Mutation	SNP	T	T	C	rs544106865	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:55035844T>C	ENST00000417545.2	+	4	660	c.574T>C	c.(574-576)Tac>Cac	p.Y192H		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	176						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.Y192H(11)|p.Y176H(11)		endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGACATATTATACAGGTGAGT	0.338													t|||	59	0.0117812	0.0023	0.0043	5008	,	,		11619	0.0089		0.001	False		,,,				2504	0.044					ENST00000417545.2																			22	Substitution - Missense(22)	p.Y192H(11)|p.Y176H(11)	endometrium(22)	endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(574-576)Tac>Cac		tripartite motif containing 48							109.0	112.0	111.0					11																	55035844		2189	4259	6448	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55035844T>C	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.574T>C	11.37:g.55035844T>C	ENSP00000402414:p.Tyr192His						p.Y192H	NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN			4	660	+			176					Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.574T>C	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	t	1.777	-0.482977	0.04383	.	.	ENSG00000150244	ENST00000417545	T	0.71934	-0.61	.	.	.	.	.	.	.	.	T	0.38108	0.1028	N	0.02142	-0.665	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.23655	-1.0182	7	0.24483	T	0.36	.	.	.	.	.	176	Q8IWZ4	TRI48_HUMAN	H	192	ENSP00000402414:Y192H	ENSP00000402414:Y192H	Y	+	1	0	TRIM48	54792420	0.459000	0.25768	0.171000	0.22900	0.171000	0.22731	-0.564000	0.05936	0.103000	0.17682	0.102000	0.15555	TAC		0.338	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			5	336	0	0	0	1	0	5	336				
MRPL45	84311	broad.mit.edu	37	17	36478035	36478035	+	Silent	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:36478035C>T	ENST00000312513.5	+	7	848	c.687C>T	c.(685-687)ggC>ggT	p.G229G		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	229						mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACCGGTTTGGCCGGTTGATGT	0.438																																						ENST00000312513.5																			0				breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13						c.(685-687)ggC>ggT		mitochondrial ribosomal protein L45							120.0	113.0	115.0					17																	36478035		2203	4300	6503	SO:0001819	synonymous_variant	84311				intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome	g.chr17:36478035C>T	BC006235	CCDS11326.1, CCDS74047.1	17q21.2	2014-05-06			ENSG00000174100	ENSG00000278845		"""Mitochondrial ribosomal proteins / large subunits"""	16651	protein-coding gene	gene with protein product		611850				11551941, 12706105	Standard	XM_006725366		Approved	MGC11321	uc002hpy.3	Q9BRJ2	OTTHUMG00000188489	ENST00000312513.5:c.687C>T	17.37:g.36478035C>T							p.G229G	NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN			7	848	+	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	229					A1L436|Q6ZMJ5	Silent	SNP	ENST00000312513.5	37	c.687C>T	CCDS11326.1																																																																																				0.438	MRPL45-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256792.3	NM_032351		5	417	0	0	0	1	0	5	417				
PCNX	22990	broad.mit.edu	37	14	71500186	71500186	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:71500186T>G	ENST00000304743.2	+	17	4045	c.3599T>G	c.(3598-3600)aTt>aGt	p.I1200S	PCNX_ENST00000238570.5_Missense_Mutation_p.I1200S|PCNX_ENST00000439984.3_Missense_Mutation_p.I1089S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1200						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTTTTCTCCATTTTTTGTGGT	0.338																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(3598-3600)aTt>aGt		pecanex homolog (Drosophila)							168.0	150.0	156.0					14																	71500186		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71500186T>G	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.3599T>G	14.37:g.71500186T>G	ENSP00000304192:p.Ile1200Ser					PCNX_ENST00000238570.5_Missense_Mutation_p.I1200S|PCNX_ENST00000439984.3_Missense_Mutation_p.I1089S	p.I1200S	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	17	4045	+			1200					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.3599T>G	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.1|20.1	3.934512|3.934512	0.73442|0.73442	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000554691|ENST00000304743;ENST00000238570;ENST00000439984	.|T;T;T	.|0.11063	.|3.25;3.23;2.81	5.72|5.72	5.72|5.72	0.89469|0.89469	.|.	.|0.547984	.|0.21165	.|N	.|0.079081	T|T	0.14743|0.14743	0.0356|0.0356	L|L	0.43923|0.43923	1.385|1.385	0.25807|0.25807	N|N	0.984448|0.984448	.|B;B;B	.|0.21606	.|0.039;0.037;0.058	.|B;B;B	.|0.31191	.|0.125;0.053;0.085	T|T	0.13442|0.13442	-1.0509|-1.0509	5|10	.|0.87932	.|D	.|0	.|.	15.9971|15.9971	0.80260|0.80260	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|1200;1089;1200	.|Q96RV3-3;B2RTR6;Q96RV3	.|.;.;PCX1_HUMAN	V|S	259|1200;1200;1089	.|ENSP00000304192:I1200S;ENSP00000238570:I1200S;ENSP00000396617:I1089S	.|ENSP00000238570:I1200S	F|I	+|+	1|2	0|0	PCNX|PCNX	70569939|70569939	1.000000|1.000000	0.71417|0.71417	0.286000|0.286000	0.24833|0.24833	0.995000|0.995000	0.86356|0.86356	7.436000|7.436000	0.80404|0.80404	2.186000|2.186000	0.69663|0.69663	0.528000|0.528000	0.53228|0.53228	TTT|ATT		0.338	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		82	295	0	0	0	1	0	82	295				
BCRP7	100133163	broad.mit.edu	37	22	18844763	18844763	+	3'UTR	SNP	T	T	C	rs1064849		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:18844763T>C	ENST00000412938.1	+	0	3013																											TCACAGCCTCTGAGGGCAGCA	0.562																																						ENST00000412938.1																			0																																																	SO:0001624	3_prime_UTR_variant	0							g.chr22:18844763T>C																												ENST00000412938.1:c.*3010T>C	22.37:g.18844763T>C														0	3013	+									RNA	SNP	ENST00000412938.1	37																																																																																						0.562	AC008132.13-002	KNOWN	basic	processed_transcript	protein_coding	OTTHUMT00000471615.1			11	33	0	0	0	1	0	11	33				
EFCAB6	64800	broad.mit.edu	37	22	43996133	43996133	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:43996133C>T	ENST00000262726.7	-	23	2945	c.2692G>A	c.(2692-2694)Gag>Aag	p.E898K	EFCAB6_ENST00000396231.2_Missense_Mutation_p.E746K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	898	EF-hand 10. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.E898K(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CCTTTTCCCTCGGTGTCGTAT	0.428																																						ENST00000262726.7																			1	Substitution - Missense(1)	p.E898K(1)	lung(1)	breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(2692-2694)Gag>Aag		EF-hand calcium binding domain 6							112.0	115.0	114.0					22																	43996133		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:43996133C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.2692G>A	22.37:g.43996133C>T	ENSP00000262726:p.Glu898Lys					EFCAB6_ENST00000396231.2_Missense_Mutation_p.E746K	p.E898K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			23	2945	-		Ovarian(80;0.0247)|all_neural(38;0.025)	898			EF-hand 10.		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.2692G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.149491	0.37923	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.07800	3.16;3.16	5.0	2.86	0.33363	EF-hand-like domain (1);	0.251434	0.29940	N	0.010811	T	0.07999	0.0200	L	0.59436	1.845	0.22468	N	0.999077	P;D	0.56746	0.897;0.977	B;B	0.39465	0.196;0.3	T	0.31779	-0.9931	10	0.25751	T	0.34	-28.7596	9.1154	0.36755	0.0:0.8248:0.0:0.1752	.	746;898	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	K	746;898	ENSP00000379533:E746K;ENSP00000262726:E898K	ENSP00000262726:E898K	E	-	1	0	EFCAB6	42327466	0.060000	0.20803	0.872000	0.34217	0.680000	0.39746	1.029000	0.30140	1.333000	0.45449	0.655000	0.94253	GAG		0.428	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		138	406	0	0	0	1	0	138	406				
TCHH	7062	broad.mit.edu	37	1	152082606	152082606	+	Silent	SNP	T	T	C	rs201965717		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	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	1098	0	0	0	1	0	8	1098				
FPR1	2357	broad.mit.edu	37	19	52249584	52249584	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:52249584C>T	ENST00000595042.1	-	3	805	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	FPR1_ENST00000304748.4_Missense_Mutation_p.G222R	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	222					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GCAATAAGCCCATAACTGACA	0.517																																						ENST00000595042.1																			0				endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20						c.(664-666)Ggg>Agg		formyl peptide receptor 1	Nedocromil(DB00716)						122.0	110.0	114.0					19																	52249584		2203	4300	6503	SO:0001583	missense	2357				activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity	g.chr19:52249584C>T	M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.664G>A	19.37:g.52249584C>T	ENSP00000471493:p.Gly222Arg					FPR1_ENST00000304748.4_Missense_Mutation_p.G222R	p.G222R	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	3	805	-		all_neural(266;0.0189)|Medulloblastoma(540;0.146)	222					Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	c.664G>A	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	12.24	1.878537	0.33162	.	.	ENSG00000171051	ENST00000304748	T	0.72725	-0.68	3.65	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.431534	0.23098	N	0.051955	D	0.85465	0.5703	M	0.94063	3.49	0.30381	N	0.781935	D	0.89917	1.0	D	0.87578	0.998	T	0.82550	-0.0401	10	0.62326	D	0.03	.	7.6654	0.28428	0.0:0.8765:0.0:0.1235	.	222	P21462	FPR1_HUMAN	R	222	ENSP00000302707:G222R	ENSP00000302707:G222R	G	-	1	0	FPR1	56941396	0.000000	0.05858	0.484000	0.27391	0.048000	0.14542	0.029000	0.13666	1.956000	0.56807	0.650000	0.86243	GGG		0.517	FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029		249	274	0	0	0	1	0	249	274				
TNR	7143	broad.mit.edu	37	1	175365844	175365844	+	Missense_Mutation	SNP	T	T	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:175365844T>A	ENST00000367674.2	-	5	1784	c.1076A>T	c.(1075-1077)tAc>tTc	p.Y359F	TNR_ENST00000263525.2_Missense_Mutation_p.Y359F			Q92752	TENR_HUMAN	tenascin R	359	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					CGTCGGCTGGTAAGAGATCAC	0.617																																						ENST00000367674.1																			0				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177						c.(1075-1077)tAc>tTc		tenascin R							74.0	75.0	75.0					1																	175365844		2203	4300	6503	SO:0001583	missense	7143				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		g.chr1:175365844T>A	X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1076A>T	1.37:g.175365844T>A	ENSP00000356646:p.Tyr359Phe					TNR_ENST00000263525.2_Missense_Mutation_p.Y359F	p.Y359F	NM_003285.2	NP_003276.3	Q92752	TENR_HUMAN			5	1784	-	Renal(580;0.146)		359			Fibronectin type-III 1.		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	c.1076A>T	CCDS1318.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	29.5|29.5	5.010028|5.010028	0.93346|0.93346	.|.	.|.	ENSG00000116147|ENSG00000116147	ENST00000422274|ENST00000367674;ENST00000263525;ENST00000367673	.|T;T	.|0.61859	.|0.07;0.07	5.96|5.96	5.96|5.96	0.96718|0.96718	.|Fibronectin, type III (4);Immunoglobulin-like fold (1);	.|0.067516	.|0.64402	.|D	.|0.000009	T|T	0.72342|0.72342	0.3448|0.3448	L|L	0.54965|0.54965	1.715|1.715	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|D	.|0.87578	.|0.998	T|T	0.72779|0.72779	-0.4190|-0.4190	5|10	.|0.51188	.|T	.|0.08	.|.	16.0892|16.0892	0.81080|0.81080	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|359	.|Q92752	.|TENR_HUMAN	F|F	83|359	.|ENSP00000356646:Y359F;ENSP00000263525:Y359F	.|ENSP00000263525:Y359F	L|Y	-|-	3|2	2|0	TNR|TNR	173632467|173632467	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.774000|3.774000	0.55341|0.55341	2.279000|2.279000	0.76181|0.76181	0.533000|0.533000	0.62120|0.62120	TTA|TAC		0.617	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285		96	384	0	0	0	1	0	96	384				
DUOXA2	405753	broad.mit.edu	37	15	45410081	45410081	+	Missense_Mutation	SNP	T	T	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:45410081T>G	ENST00000323030.5	+	6	1222	c.937T>G	c.(937-939)Tta>Gta	p.L313V	DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000267803.4_Intron|DUOXA1_ENST00000430224.2_Intron|DUOXA1_ENST00000559014.1_Intron	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	313					hydrogen peroxide metabolic process (GO:0042743)|protein transport (GO:0015031)|regulation of inflammatory response (GO:0050727)|regulation of thyroid hormone generation (GO:2000609)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		TCTCCCAGACTTAAAATGTAT	0.627											OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000323030.5																			0											c.(937-939)Tta>Gta		dual oxidase maturation factor 2							56.0	67.0	63.0					15																	45410081		2198	4298	6496	SO:0001583	missense	405753				protein transport	endoplasmic reticulum membrane|integral to membrane		g.chr15:45410081T>G	BX537581	CCDS10118.2	15q21.1	2008-10-30		2006-07-25	ENSG00000140274	ENSG00000140274			32698	protein-coding gene	gene with protein product		612772				16651268	Standard	NM_207581		Approved		uc001zuo.3	Q1HG44	OTTHUMG00000131354	ENST00000323030.5:c.937T>G	15.37:g.45410081T>G	ENSP00000319705:p.Leu313Val		OREG0023102	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	931	DUOXA1_ENST00000559014.1_Intron|DUOXA1_ENST00000558996.1_3'UTR|DUOXA1_ENST00000267803.4_Intron|DUOXA1_ENST00000430224.2_Intron	p.L313V	NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)	6	1222	+		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	313					B2RPI9|H0YNQ6	Missense_Mutation	SNP	ENST00000323030.5	37	c.937T>G	CCDS10118.2	.	.	.	.	.	.	.	.	.	.	T	12.13	1.847058	0.32606	.	.	ENSG00000140274	ENST00000323030	T	0.58060	0.36	4.74	0.676	0.17958	.	1.222260	0.05905	N	0.630659	T	0.29684	0.0741	N	0.08118	0	0.09310	N	0.999996	B	0.22800	0.075	B	0.19148	0.024	T	0.19976	-1.0289	10	0.34782	T	0.22	-0.0761	4.5387	0.12047	0.3478:0.0:0.18:0.4722	.	313	Q1HG44	DOXA2_HUMAN	V	313	ENSP00000319705:L313V	ENSP00000319705:L313V	L	+	1	2	DUOXA2	43197373	0.002000	0.14202	0.005000	0.12908	0.048000	0.14542	0.541000	0.23207	0.346000	0.23899	0.459000	0.35465	TTA		0.627	DUOXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254142.1	NM_207581		116	277	0	0	0	1	0	116	277				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron|AQP7_ENST00000539936.1_3'UTR			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		7	267	0	0	0	1	0	7	267				
FEM1B	10116	broad.mit.edu	37	15	68583276	68583276	+	Missense_Mutation	SNP	C	C	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:68583276C>T	ENST00000306917.4	+	2	2195	c.1580C>T	c.(1579-1581)gCc>gTc	p.A527V		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	527					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						GAGGTGAATGCCGTGGACAAT	0.463																																						ENST00000306917.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						c.(1579-1581)gCc>gTc		fem-1 homolog b (C. elegans)							218.0	198.0	205.0					15																	68583276		2200	4298	6498	SO:0001583	missense	10116				apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity	g.chr15:68583276C>T		CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.1580C>T	15.37:g.68583276C>T	ENSP00000307298:p.Ala527Val						p.A527V	NM_015322.3	NP_056137.1	Q9UK73	FEM1B_HUMAN			2	2195	+			527					O43146	Missense_Mutation	SNP	ENST00000306917.4	37	c.1580C>T	CCDS10228.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905847	0.72868	.	.	ENSG00000169018	ENST00000306917	T	0.71698	-0.59	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.77150	0.4088	L	0.58510	1.815	0.80722	D	1	D	0.55172	0.97	P	0.52646	0.705	T	0.74185	-0.3747	10	0.34782	T	0.22	-0.258	19.2149	0.93772	0.0:1.0:0.0:0.0	.	527	Q9UK73	FEM1B_HUMAN	V	527	ENSP00000307298:A527V	ENSP00000307298:A527V	A	+	2	0	FEM1B	66370330	1.000000	0.71417	0.967000	0.41034	0.953000	0.61014	5.948000	0.70249	2.791000	0.96007	0.491000	0.48974	GCC		0.463	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257065.1			5	516	0	0	0	1	0	5	516				
MYL9	10398	broad.mit.edu	37	20	35177521	35177521	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:35177521A>G	ENST00000279022.2	+	4	492	c.388A>G	c.(388-390)Atg>Gtg	p.M130V	MYL9_ENST00000346786.2_Missense_Mutation_p.M76V|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	130	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GCTCACCACCATGGGTGACCG	0.577																																						ENST00000279022.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8						c.(388-390)Atg>Gtg		myosin, light chain 9, regulatory							96.0	83.0	87.0					20																	35177521		2203	4300	6503	SO:0001583	missense	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35177521A>G	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.388A>G	20.37:g.35177521A>G	ENSP00000279022:p.Met130Val					MYL9_ENST00000346786.2_Missense_Mutation_p.M76V|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	p.M130V	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN			4	492	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	130			EF-hand 2.		E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Missense_Mutation	SNP	ENST00000279022.2	37	c.388A>G	CCDS13276.1	.	.	.	.	.	.	.	.	.	.	A	18.75	3.690061	0.68271	.	.	ENSG00000101335	ENST00000279022;ENST00000346786	T;T	0.78595	-1.19;-1.01	4.7	4.7	0.59300	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.75339	0.3836	L	0.48642	1.525	0.30375	N	0.782556	P;B	0.36392	0.551;0.006	P;B	0.44394	0.448;0.004	T	0.71563	-0.4555	10	0.19590	T	0.45	.	13.3054	0.60349	1.0:0.0:0.0:0.0	.	76;130	Q9BUF9;P24844	.;MYL9_HUMAN	V	130;76	ENSP00000279022:M130V;ENSP00000217313:M76V	ENSP00000279022:M130V	M	+	1	0	MYL9	34610935	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.236000	0.95360	1.880000	0.54463	0.533000	0.62120	ATG		0.577	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		111	199	0	0	0	1	0	111	199				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		5	393	0	0	0	1	0	5	393				
AHNAK	79026	broad.mit.edu	37	11	62296070	62296070	+	Missense_Mutation	SNP	A	A	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:62296070A>G	ENST00000378024.4	-	5	6093	c.5819T>C	c.(5818-5820)gTg>gCg	p.V1940A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1940					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CGACACATCCACATCCCCTTT	0.502																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(5818-5820)gTg>gCg		AHNAK nucleoprotein							212.0	223.0	219.0					11																	62296070		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62296070A>G	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5819T>C	11.37:g.62296070A>G	ENSP00000367263:p.Val1940Ala					AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	p.V1940A	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	6093	-		Melanoma(852;0.155)	1940					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.5819T>C	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	a	4.561	0.104230	0.08731	.	.	ENSG00000124942	ENST00000244934;ENST00000378024	T	0.01347	4.99	2.29	0.902	0.19290	.	.	.	.	.	T	0.03651	0.0104	M	0.91663	3.23	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.21861	-1.0233	9	0.46703	T	0.11	.	7.4842	0.27423	0.8688:0.0:0.1312:0.0	.	1940	Q09666	AHNK_HUMAN	A	29;1940	ENSP00000367263:V1940A	ENSP00000244934:V29A	V	-	2	0	AHNAK	62052646	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.071000	0.14594	-0.202000	0.10268	-2.704000	0.00135	GTG		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		8	1171	0	0	0	1	0	8	1171				
GGCX	2677	broad.mit.edu	37	2	85779621	85779621	+	Missense_Mutation	SNP	G	G	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:85779621G>A	ENST00000233838.4	-	10	1437	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	GGCX_ENST00000473665.1_5'UTR|GGCX_ENST00000430215.3_Missense_Mutation_p.R396C	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	453					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GGAAGCAGGCGGCTCAGGCAA	0.522											OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000233838.3																			0				endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15						c.(1357-1359)Cgc>Tgc		gamma-glutamyl carboxylase	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						137.0	129.0	132.0					2																	85779621		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85779621G>A		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.1357C>T	2.37:g.85779621G>A	ENSP00000233838:p.Arg453Cys		OREG0014747	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1239	GGCX_ENST00000430215.3_Missense_Mutation_p.R396C|GGCX_ENST00000473665.1_5'UTR	p.R453C	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN			10	1437	-			453					B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.1357C>T	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	G	19.07	3.756141	0.69648	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.92299	-3.01;-3.01	5.95	5.95	0.96441	.	0.567099	0.20201	N	0.097085	D	0.92120	0.7502	L	0.49778	1.585	0.34474	D	0.703168	D;P;D	0.61080	0.978;0.807;0.989	P;B;P	0.51453	0.606;0.417;0.67	D	0.94367	0.7592	10	0.54805	T	0.06	-1.5644	13.4692	0.61273	0.0:0.1567:0.8433:0.0	.	396;292;453	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	C	453;396	ENSP00000233838:R453C;ENSP00000408045:R396C	ENSP00000233838:R453C	R	-	1	0	GGCX	85633132	0.988000	0.35896	0.998000	0.56505	0.996000	0.88848	1.939000	0.40213	2.824000	0.97209	0.655000	0.94253	CGC		0.522	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		149	342	0	0	0	1	0	149	342				
MUC7	4589	broad.mit.edu	37	4	71346978	71346978	+	Missense_Mutation	SNP	T	T	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr4:71346978T>C	ENST00000304887.5	+	3	707	c.517T>C	c.(517-519)Tct>Cct	p.S173P	MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000413702.1_Missense_Mutation_p.S173P	NM_152291.2	NP_689504.2	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	173	Thr-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S173P(3)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			ACCCACACCTTCTGCAACTAC	0.522																																						ENST00000413702.1																			3	Substitution - Missense(3)	p.S173P(3)	lung(2)|kidney(1)	central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(517-519)Tct>Cct		mucin 7, secreted							341.0	284.0	303.0					4																	71346978		2203	4300	6503	SO:0001583	missense	4589					extracellular region	protein binding	g.chr4:71346978T>C	BC025688	CCDS3541.1	4q13.3	2008-02-05	2006-03-14		ENSG00000171195	ENSG00000171195		"""Mucins"""	7518	protein-coding gene	gene with protein product		158375	"""mucin 7, salivary"""			8838308	Standard	NM_152291		Approved	FLJ27047, MG2	uc003hfj.3	Q8TAX7	OTTHUMG00000129916	ENST00000304887.5:c.517T>C	4.37:g.71346978T>C	ENSP00000302021:p.Ser173Pro					MUC7_ENST00000304887.5_Missense_Mutation_p.S173P|MUC7_ENST00000456088.1_Missense_Mutation_p.S173P|MUC7_ENST00000514512.1_3'UTR	p.S173P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	Lung(101;0.211)		4	805	+			173			Thr-rich.		Q9UCD7|Q9UCD8	Missense_Mutation	SNP	ENST00000304887.5	37	c.517T>C	CCDS3541.1	.	.	.	.	.	.	.	.	.	.	T	8.294	0.818323	0.16607	.	.	ENSG00000171195	ENST00000413702;ENST00000456088;ENST00000304887	T;T;T	0.52754	0.65;0.65;0.65	2.59	-1.83	0.07833	.	.	.	.	.	T	0.22360	0.0539	N	0.12182	0.205	0.09310	N	1	B	0.14805	0.011	B	0.10450	0.005	T	0.19451	-1.0305	8	.	.	.	-1.8981	3.858	0.08984	0.0:0.2646:0.3931:0.3423	.	173	Q8TAX7	MUC7_HUMAN	P	173	ENSP00000407422:S173P;ENSP00000400585:S173P;ENSP00000302021:S173P	.	S	+	1	0	MUC7	71381567	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.097000	0.01348	-0.350000	0.08262	-0.605000	0.04089	TCT		0.522	MUC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252168.2	NM_152291		7	534	0	0	0	1	0	7	534				
WRAP73	49856	broad.mit.edu	37	1	3549997	3549998	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:3549997_3549998insC	ENST00000270708.7	-	9	959_960	c.886_887insG	c.(886-888)gccfs	p.A296fs	WRAP73_ENST00000378322.3_Frame_Shift_Ins_p.A296fs	NM_017818.3	NP_060288.3	Q9P2S5	WRP73_HUMAN	WD repeat containing, antisense to TP73	296						centrosome (GO:0005813)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						gccggccccggcccggggcggc	0.569																																						ENST00000378322.3																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)	12						c.(886-888)cggfs		WD repeat containing, antisense to TP73																																				SO:0001589	frameshift_variant	49856					centrosome	protein binding	g.chr1:3549997_3549998insC	AB034912, EF494669	CCDS48.1	1p36.3	2013-05-21	2011-04-13	2011-04-13	ENSG00000116213	ENSG00000116213		"""WD repeat domain containing"""	12759	protein-coding gene	gene with protein product		606040	"""WD repeat domain 8"""	WDR8			Standard	NM_017818		Approved		uc001ako.3	Q9P2S5	OTTHUMG00000000612	ENST00000270708.7:c.887dupG	1.37:g.3550000_3550000dupC	ENSP00000270708:p.Ala296fs					WRAP73_ENST00000270708.7_Frame_Shift_Ins_p.R296fs	p.R296fs			Q9P2S5	WRP73_HUMAN			9	944_945	-			296					Q5T0D6|Q9BUH7|Q9NTK7|Q9NX56	Frame_Shift_Ins	INS	ENST00000270708.7	37	c.886_887insG	CCDS48.1																																																																																				0.569	WRAP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001470.1			8	256						8	256	---	---	---	---
VAMP3	9341	broad.mit.edu	37	1	7838212	7838214	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:7838212_7838214delTCA	ENST00000054666.6	+	4	381_383	c.266_268delTCA	c.(265-270)ttcatc>ttc	p.I94del	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_In_Frame_Del_p.I66del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	94					calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CTGGTTATCTTCATCATCATCAT	0.365																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(265-270)ttc>t		vesicle-associated membrane protein 3																																				SO:0001651	inframe_deletion	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7838212_7838214delTCA	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.266_268delTCA	1.37:g.7838221_7838223delTCA	ENSP00000054666:p.Ile94del					VAMP3_ENST00000470357.1_In_Frame_Del_p.FI61del	p.FI89del	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	4	381_383	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	89					Q9BRV4	In_Frame_Del	DEL	ENST00000054666.6	37	c.266_268delTCA	CCDS88.1																																																																																				0.365	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		8	779						8	779	---	---	---	---
SPEN	23013	broad.mit.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gagfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431																																						ENST00000375759.3																			0				NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149						c.(2407-2409)gfs		spen family transcriptional repressor																																				SO:0001589	frameshift_variant	23013				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding	g.chr1:16255142_16255143delGA		CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2407_2408delGA	1.37:g.16255152_16255153delGA	ENSP00000364912:p.Glu803fs						p.E803fs	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)	11	2611_2612	+		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)	803			Arg-rich.		Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	ENST00000375759.3	37	c.2407_2408delGA	CCDS164.1																																																																																				0.431	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025993.1	NM_015001		8	569						8	569	---	---	---	---
CROCCP2	84809	broad.mit.edu	37	1	16959732	16959733	+	lincRNA	INS	-	-	GGGCCTGCAGCA	rs12063740|rs372501429|rs112000683|rs148795493	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:16959732_16959733insGGGCCTGCAGCA	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCCTCCAGCTGGGCCTGCTTC	0.668														1937	0.386781	0.4644	0.3818	5008	,	,		54334	0.3363		0.3439	False		,,,				2504	0.3814					ENST00000412962.1																			0																																																			0							g.chr1:16959732_16959733insGGGCCTGCAGCA	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959732_16959733insGGGCCTGCAGCA														0	74	-								Q8NF65|Q96FR5|Q9BRE8	RNA	INS	ENST00000412962.1	37																																																																																						0.668	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		13	104						13	104	---	---	---	---
MST1L	11223	broad.mit.edu	37	1	17084791	17084791	+	RNA	DEL	A	A	-	rs142033643		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:17084791delA	ENST00000455405.2	-	0	228							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										GGCCCTGCCTAGAGGAGTGGG	0.582																																						ENST00000455405.2																			0																																																			0							g.chr1:17084791delA	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084791delA														0	228	-								B7WPB1|Q13209	RNA	DEL	ENST00000455405.2	37																																																																																						0.582	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		10	131						10	131	---	---	---	---
PADI6	353238	broad.mit.edu	37	1	17723476	17723477	+	RNA	INS	-	-	CA	rs397791237|rs367811358|rs561097279|rs61476146	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:17723476_17723477insCA	ENST00000434762.2	+	0	1669							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAATGCACCCAGGTGGCTGG	0.629														1693	0.338059	0.4024	0.3689	5008	,	,		20008	0.1716		0.3728	False		,,,				2504	0.365					ENST00000434762.2																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29								peptidyl arginine deiminase, type VI	L-Citrulline(DB00155)																																					353238				peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity	g.chr1:17723476_17723477insCA	AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17723477_17723478dupCA										Q6TGC4	PADI6_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	0	1669	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)						Q330K5|Q70SX3	RNA	INS	ENST00000434762.2	37																																																																																						0.629	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421		24	22						24	22	---	---	---	---
EXTL1	2134	broad.mit.edu	37	1	26349533	26349535	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:26349533_26349535delCCT	ENST00000374280.3	+	1	1263_1265	c.396_398delCCT	c.(394-399)tgcctc>tgc	p.L137del		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	137					protein glycosylation (GO:0006486)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0050508)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGGGCCTGCCTCCTCCTCCTC	0.606																																						ENST00000374280.3																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23						c.(394-399)tgc>tg		exostosin-like glycosyltransferase 1																																				SO:0001651	inframe_deletion	2134				skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding	g.chr1:26349533_26349535delCCT	U67191	CCDS271.1	1p36.1	2013-03-01	2013-03-01		ENSG00000158008	ENSG00000158008	2.4.1.224	"""Exostosin glycosyltransferase family"""	3515	protein-coding gene	gene with protein product	"""glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase"", ""alpha-N-acetylglucosaminyltransferase II"", ""glucuronyl-N-acetylglucosaminylproteoglycan alpha-1,4-N- acetylglucosaminyltransferase"", ""exostosin-L"""	601738	"""exostoses (multiple)-like 1"""			9037597	Standard	NM_004455		Approved	EXTL, MGC70794	uc001blf.3	Q92935	OTTHUMG00000007509	ENST00000374280.3:c.396_398delCCT	1.37:g.26349542_26349544delCCT	ENSP00000363398:p.Leu137del						p.CL132del	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)	1	1263_1265	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	132					Q6GSC1	In_Frame_Del	DEL	ENST00000374280.3	37	c.396_398delCCT	CCDS271.1																																																																																				0.606	EXTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019749.1	NM_004455		9	299						9	299	---	---	---	---
B4GALT2	8704	broad.mit.edu	37	1	44447007	44447009	+	In_Frame_Del	DEL	AGC	AGC	-	rs149892509		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:44447007_44447009delAGC	ENST00000356836.6	+	2	965_967	c.175_177delAGC	c.(175-177)agcdel	p.S65del	B4GALT2_ENST00000434555.2_In_Frame_Del_p.A14del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	65					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|lactose synthase activity (GO:0004461)|metal ion binding (GO:0046872)|N-acetyllactosamine synthase activity (GO:0003945)			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCCAGCTGCTagcagcagcagca	0.685																																						ENST00000356836.6																			0				endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						c.(175-177)del		UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2	N-Acetyl-D-glucosamine(DB00141)		,,	4,48,4198		0,0,4,5,38,2078					,,		1.0		dbSNP_130	46	6,104,8118		1,0,4,11,82,4016	no	codingComplex,codingComplex,codingComplex	B4GALT2	NM_030587.2,NM_003780.4,NM_001005417.2	,,	1,0,8,16,120,6094	A1A1,A1A2,A1R,A2A2,A2R,RR		1.3369,1.2235,1.2983	,,	,,		10,152,12316				SO:0001651	inframe_deletion	8704				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity	g.chr1:44447007_44447009delAGC	AF038660	CCDS506.1, CCDS55596.1	1p34-p33	2013-02-19			ENSG00000117411	ENSG00000117411		"""Beta 4-glycosyltransferases"""	925	protein-coding gene	gene with protein product		604013				9405390, 9597550	Standard	NM_003780		Approved	beta4Gal-T2	uc010okl.2	O60909	OTTHUMG00000008296	ENST00000356836.6:c.175_177delAGC	1.37:g.44447016_44447018delAGC	ENSP00000349293:p.Ser65del					B4GALT2_ENST00000434555.2_In_Frame_Del_p.LA7del|B4GALT2_ENST00000372324.1_In_Frame_Del_p.S65del|B4GALT2_ENST00000309519.7_In_Frame_Del_p.S94del	p.S65del	NM_001005417.2|NM_030587.2	NP_001005417.1|NP_085076.2	O60909	B4GT2_HUMAN			2	965_967	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)	65					B3KTP0|B4DE14|D3DPY6|D3DPY7|O60511|Q4V9L9|Q5T4X5|Q5T4Y5|Q9BUP6|Q9NSY7	In_Frame_Del	DEL	ENST00000356836.6	37	c.175_177delAGC	CCDS506.1																																																																																				0.685	B4GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022840.1	NM_003780		7	392						7	392	---	---	---	---
PVRL4	81607	broad.mit.edu	37	1	161044057	161044059	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:161044057_161044059delCAC	ENST00000368012.3	-	6	1407_1409	c.1105_1107delGTG	c.(1105-1107)gtgdel	p.V369del	PVRL4_ENST00000486694.1_5'Flank|PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	369					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)			GGGACATGAGCACCACCACCACC	0.571																																					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.(1105-1107)del		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.chr1:161044057_161044059delCAC	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.1105_1107delGTG	1.37:g.161044066_161044068delCAC	ENSP00000356991:p.Val369del					PVRL4_ENST00000453926.2_In_Frame_Del_p.V103del	p.V369del	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00165)		6	1407_1409	-	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		369					B4DQW3|Q96K15	In_Frame_Del	DEL	ENST00000368012.3	37	c.1105_1107delGTG	CCDS1216.1																																																																																				0.571	PVRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077074.1	NM_030916		8	725						8	725	---	---	---	---
LMX1A	4009	broad.mit.edu	37	1	165177332	165177334	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:165177332_165177334delTGC	ENST00000342310.3	-	7	1165_1167	c.783_785delGCA	c.(781-786)cagcaa>caa	p.261_262QQ>Q	LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000294816.2_In_Frame_Del_p.261_262QQ>Q|RP11-38C18.2_ENST00000457106.1_RNA|LMX1A_ENST00000367893.4_In_Frame_Del_p.261_262QQ>Q	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	261	Gln-rich.|Poly-Gln.				axon guidance (GO:0007411)|central nervous system neuron differentiation (GO:0021953)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|dopaminergic neuron differentiation (GO:0071542)|midbrain development (GO:0030901)|negative regulation of neuron differentiation (GO:0045665)|regulation of cell growth (GO:0001558)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CTGCTGATCTTGCTGCTGCTGCT	0.567																																						ENST00000342310.3																			0				NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35						c.(781-786)caa>ca		LIM homeobox transcription factor 1, alpha																																				SO:0001651	inframe_deletion	4009					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:165177332_165177334delTGC	AY078391	CCDS1247.1	1q24.1	2011-06-20			ENSG00000162761	ENSG00000162761		"""Homeoboxes / LIM class"""	6653	protein-coding gene	gene with protein product		600298		LMX1		7698771	Standard	NM_177398		Approved	LMX1.1	uc001gcz.2	Q8TE12	OTTHUMG00000034575	ENST00000342310.3:c.783_785delGCA	1.37:g.165177341_165177343delTGC	ENSP00000340226:p.Gln262del					LMX1A_ENST00000489443.2_5'UTR|LMX1A_ENST00000367893.4_In_Frame_Del_p.QQ261del|LMX1A_ENST00000294816.2_In_Frame_Del_p.QQ261del	p.QQ261del	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN			7	1165_1167	-	all_hematologic(923;0.248)		261			Gln-rich.|Poly-Gln.		B3KXP6|Q0VDB5|Q5VWG4|Q8TE11	In_Frame_Del	DEL	ENST00000342310.3	37	c.783_785delGCA	CCDS1247.1																																																																																				0.567	LMX1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083668.2	NM_177398		13	236						13	236	---	---	---	---
POU2F1	5451	broad.mit.edu	37	1	167385016	167385018	+	In_Frame_Del	DEL	CCA	CCA	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:167385016_167385018delCCA	ENST00000541643.3	+	17	2363_2365	c.2201_2203delCCA	c.(2200-2205)tccacc>tcc	p.T738del	POU2F1_ENST00000429375.2_In_Frame_Del_p.T698del|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000367862.5_In_Frame_Del_p.T750del|POU2F1_ENST00000367866.2_In_Frame_Del_p.T761del|POU2F1_ENST00000420254.3_Intron			P14859	PO2F1_HUMAN	POU class 2 homeobox 1	738					gene expression (GO:0010467)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GGGGCTGCGTCCACCACCACCAC	0.601																																						ENST00000367862.5																			0				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						c.(2236-2241)tcc>t		POU class 2 homeobox 1																																				SO:0001651	inframe_deletion	5451				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr1:167385016_167385018delCCA	BC001664	CCDS1259.1, CCDS1259.2, CCDS55655.1, CCDS55656.1	1q24.2	2011-06-20	2007-07-13		ENSG00000143190	ENSG00000143190		"""Homeoboxes / POU class"""	9212	protein-coding gene	gene with protein product		164175	"""POU domain class 2, transcription factor 1"""	OTF1		1887216	Standard	NM_002697		Approved	OCT1	uc001gee.3	P14859	OTTHUMG00000034436	ENST00000541643.3:c.2201_2203delCCA	1.37:g.167385025_167385027delCCA	ENSP00000441285:p.Thr738del					POU2F1_ENST00000367866.2_In_Frame_Del_p.ST757del|POU2F1_ENST00000429375.2_In_Frame_Del_p.ST694del|POU2F1_ENST00000420254.3_Intron|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000541643.3_In_Frame_Del_p.ST734del	p.ST746del	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN			16	2472_2474	+			734					B1AL91|B1AL93|B4E029|J3KP77|Q5TBT7|Q6PK46|Q8NEU9|Q9BPV1	In_Frame_Del	DEL	ENST00000541643.3	37	c.2237_2239delCCA																																																																																					0.601	POU2F1-203	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_002697		7	983						7	983	---	---	---	---
MIA3	375056	broad.mit.edu	37	1	222838734	222838735	+	Frame_Shift_Ins	INS	-	-	G			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:222838734_222838735insG	ENST00000344922.5	+	28	5522_5523	c.5497_5498insG	c.(5497-5499)cggfs	p.R1833fs	MIA3_ENST00000344441.6_Frame_Shift_Ins_p.R1833fs|AIDA_ENST00000474863.1_5'Flank|MIA3_ENST00000340535.7_Frame_Shift_Ins_p.R711fs|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1833	Pro-rich.				chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.R1833L(1)		breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TCTCCACCCTCGGGGATTTTTA	0.515																																						ENST00000344922.5																			1	Substitution - Missense(1)	p.R1833L(1)	lung(1)	breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80						c.(5497-5499)gggfs		melanoma inhibitory activity family, member 3																																				SO:0001589	frameshift_variant	375056				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr1:222838734_222838735insG		CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.5501dupG	1.37:g.222838738_222838738dupG	ENSP00000340900:p.Arg1833fs					MIA3_ENST00000344441.6_Frame_Shift_Ins_p.G1833fs|MIA3_ENST00000340535.7_Frame_Shift_Ins_p.G711fs|MIA3_ENST00000344507.1_Intron	p.G1833fs	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN		GBM - Glioblastoma multiforme(131;0.0199)	28	5522_5523	+			1833			Pro-rich.		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Frame_Shift_Ins	INS	ENST00000344922.5	37	c.5497_5498insG	CCDS41470.1																																																																																				0.515	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000091489.4	NM_198551		7	1516						7	1516	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2092-2094)cafs		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)			61,4205		23,15,2095	67.0	69.0	68.0			3.8	1.0	1		69	81,8173		35,11,4081	no	frameshift	MTR	NM_000254.2		58,26,6176	A1A1,A1R,RR		0.9813,1.4299,1.1342			237024474	142,12378	2203	4300	6503	SO:0001589	frameshift_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024474delA	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2093delA	1.37:g.237024474delA	ENSP00000355536:p.Gln698fs					MTR_ENST00000535889.1_Intron	p.Q698fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2487	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	698			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Del	DEL	ENST00000366577.5	37	c.2093delA	CCDS1614.1																																																																																				0.308	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		9	421						9	421	---	---	---	---
SMC6	79677	broad.mit.edu	37	2	17898126	17898126	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr2:17898126delT	ENST00000448223.2	-	14	1497	c.1228delA	c.(1228-1230)atafs	p.I410fs	SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	410					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCAAGATATTTTTTTTTGT	0.343																																						ENST00000448223.2																			0				NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43						c.(1228-1230)tafs		structural maintenance of chromosomes 6							82.0	78.0	80.0					2																	17898126		2203	4297	6500	SO:0001589	frameshift_variant	79677				DNA recombination|DNA repair	chromosome|nucleus	ATP binding	g.chr2:17898126delT	AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.1228delA	2.37:g.17898126delT	ENSP00000404092:p.Ile410fs					SMC6_ENST00000351948.4_Frame_Shift_Del_p.I410fs|SMC6_ENST00000381272.4_Frame_Shift_Del_p.I436fs|SMC6_ENST00000402989.1_Frame_Shift_Del_p.I410fs	p.I410fs	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN			14	1497	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)		410					A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Frame_Shift_Del	DEL	ENST00000448223.2	37	c.1228delA	CCDS1690.1																																																																																				0.343	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207359.1	NM_024624		11	205						11	205	---	---	---	---
XPC	7508	broad.mit.edu	37	3	14219966	14219968	+	Splice_Site	DEL	CCT	CCT	-	rs72561774	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:14219966_14219968delCCT	ENST00000285021.7	-	1	315_317	c.101_103delAGG	c.(100-105)gaggat>gat	p.E34del	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.E34del	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	34	Glu-rich (acidic).|Poly-Glu.				DNA repair (GO:0006281)|intra-S DNA damage checkpoint (GO:0031573)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|regulation of mitotic cell cycle phase transition (GO:1901990)|response to drug (GO:0042493)|response to UV-B (GO:0010224)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|XPC complex (GO:0071942)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|heteroduplex DNA loop binding (GO:0000404)|single-stranded DNA binding (GO:0003697)	p.E34delE(1)		NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGCTCTCACCCTCCTCCTCCTC	0.734			"""Mis, N, F, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																													ENST00000285021.7			yes	Rec		Xeroderma pigmentosum (C)	3	3p25	7508	"""Mis, N, F, S"""	"""xeroderma pigmentosum, complementation group C"""			E		"""skin basal cell, skin squamous cell, melanoma"""			1	Deletion - In frame(1)	p.E34delE(1)	upper_aerodigestive_tract(1)	NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.e1+1	Nucleotide excision repair (NER)	xeroderma pigmentosum, complementation group C			,	315,1,3348		29,0,257,0,1,1545					,	5.2	1.0			23	706,1,7113		33,0,640,0,1,3236	no	codingComplex-near-splice,codingComplex-near-splice	XPC	NM_004628.4,NM_001145769.1	,	62,0,897,0,2,4781	A1A1,A1A2,A1R,A2A2,A2R,RR		9.0409,8.6245,8.908	,	,		1021,2,10461				SO:0001630	splice_region_variant	7508	Xeroderma Pigmentosum	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding	g.chr3:14219966_14219968delCCT		CCDS46763.1	3p25.1	2014-09-17			ENSG00000154767	ENSG00000154767			12816	protein-coding gene	gene with protein product	"""xeroderma pigmentosum group C protein"""	613208				1522891	Standard	NM_004628		Approved	XPCC, RAD4	uc011ave.2	Q01831	OTTHUMG00000155526	ENST00000285021.7:c.103+1AGG>-	3.37:g.14219975_14219977delCCT						LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Splice_Site_p.ED34_splice	p.ED34_splice	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN			1	315_317	-			34			Glu-rich (acidic).|Poly-Glu.		B4DIP3|E9PB96|E9PH69|Q53GT7|Q96AX0	Splice_Site	DEL	ENST00000285021.7	37	c.103_splice	CCDS46763.1																																																																																				0.734	XPC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000340517.3	NM_004628	In_Frame_Del	7	361						7	361	---	---	---	---
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)gatdel	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507																																						ENST00000383693.3																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						c.(13-15)del		leukemia NUP98 fusion partner 1																																				SO:0001651	inframe_deletion	348801							g.chr3:100148586_100148588delGAT		CCDS43120.1	3q12.2	2014-05-12			ENSG00000206535	ENSG00000206535			28014	protein-coding gene	gene with protein product						16467868	Standard	NM_001085451		Approved	NP3	uc003dtx.4	A1A4G5	OTTHUMG00000159082	ENST00000383693.3:c.13_15delGAT	3.37:g.100148595_100148597delGAT	ENSP00000373191:p.Asp10del					LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN			2	1293_1295	+			10			Poly-Asp.		B7ZLT3	In_Frame_Del	DEL	ENST00000383693.3	37	c.13_15delGAT	CCDS43120.1																																																																																				0.507	LNP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353232.1			11	1062						11	1062	---	---	---	---
SLCO2A1	6578	broad.mit.edu	37	3	133670082	133670083	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:133670082_133670083insA	ENST00000310926.4	-	6	1103_1104	c.830_831insT	c.(829-831)ttcfs	p.F277fs	SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	277					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CTCGAGGGAAGAAAAAAAAGGG	0.49																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(829-831)tttfs		solute carrier organic anion transporter family, member 2A1				1,4265		0,1,2132						4.8	1.0			90	0,8254		0,0,4127	no	frameshift	SLCO2A1	NM_005630.2		0,1,6259	A1A1,A1R,RR		0.0,0.0234,0.0080				1,12519				SO:0001589	frameshift_variant	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133670082_133670083insA		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.831dupT	3.37:g.133670090_133670090dupA	ENSP00000311291:p.Phe277fs					SLCO2A1_ENST00000493729.1_Frame_Shift_Ins_p.F201fs	p.F277fs	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			6	1103_1104	-			277					Q86V98|Q8IUN2	Frame_Shift_Ins	INS	ENST00000310926.4	37	c.830_831insT	CCDS3084.1																																																																																				0.490	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		7	577						7	577	---	---	---	---
DVL3	1857	broad.mit.edu	37	3	183887876	183887876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:183887876delG	ENST00000313143.3	+	14	1829	c.1581delG	c.(1579-1581)ccgfs	p.P527fs	DVL3_ENST00000431765.1_Frame_Shift_Del_p.P510fs|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	527					canonical Wnt signaling pathway (GO:0060070)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|intracellular signal transduction (GO:0035556)|non-canonical Wnt signaling pathway (GO:0035567)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|outflow tract septum morphogenesis (GO:0003148)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cell cortex (GO:0005938)	beta-catenin binding (GO:0008013)|frizzled binding (GO:0005109)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			TGCCGCACCCGGGGGCCGCCC	0.682																																						ENST00000313143.3																			0				breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35						c.(1579-1581)ccfs		dishevelled segment polarity protein 3							50.0	52.0	51.0					3																	183887876		2203	4300	6503	SO:0001589	frameshift_variant	1857				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity	g.chr3:183887876delG	D86963	CCDS3253.1	3q27	2013-05-22	2013-05-22		ENSG00000161202	ENSG00000161202		"""Dishevelled homologs"""	3087	protein-coding gene	gene with protein product		601368	"""dishevelled 3 (homologous to Drosophila dsh)"", ""dishevelled, dsh homolog 3 (Drosophila)"""			8817329	Standard	NM_004423		Approved	KIAA0208	uc003fms.3	Q92997	OTTHUMG00000156841	ENST00000313143.3:c.1581delG	3.37:g.183887876delG	ENSP00000316054:p.Pro527fs					DVL3_ENST00000431765.1_Frame_Shift_Del_p.P510fs|EIF2B5_ENST00000444495.1_Intron	p.P527fs	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)		14	1829	+	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		527					B4E3E5|D3DNT0|O14642|Q13531|Q8N5E9|Q92607	Frame_Shift_Del	DEL	ENST00000313143.3	37	c.1581delG	CCDS3253.1																																																																																				0.682	DVL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346184.1	NM_004423		7	494						7	494	---	---	---	---
TMEM41A	90407	broad.mit.edu	37	3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral component of membrane (GO:0016021)				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446																																						ENST00000421852.1																			0				large_intestine(1)|lung(2)|skin(1)	4						c.(466-468)tttfs		transmembrane protein 41A				0,4266		0,0,2133						1.0	0.8			116	1,8253		0,1,4126	no	frameshift	TMEM41A	NM_080652.3		0,1,6259	A1A1,A1R,RR		0.0121,0.0,0.0080				1,12519				SO:0001589	frameshift_variant	90407					integral to membrane		g.chr3:185212517_185212518insA	BC019884	CCDS3271.1	3q27.2	2006-04-12			ENSG00000163900	ENSG00000163900			30544	protein-coding gene	gene with protein product						12975309	Standard	NM_080652		Approved	MGC15397	uc003fpj.2	Q96HV5	OTTHUMG00000156660	ENST00000421852.1:c.468dupT	3.37:g.185212525_185212525dupA	ENSP00000406885:p.Phe156fs					TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	p.F156fs	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		4	562_563	-	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		156					A8K4B3|D3DNU2|Q6ZMJ0	Frame_Shift_Ins	INS	ENST00000421852.1	37	c.467_468insT	CCDS3271.1																																																																																				0.446	TMEM41A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345174.1	NM_080652		7	880						7	880	---	---	---	---
PRDM8	56978	broad.mit.edu	37	4	81123250	81123252	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr4:81123250_81123252delCAG	ENST00000504452.1	+	8	1473_1475	c.634_636delCAG	c.(634-636)cagdel	p.Q217del	PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del|PRDM8_ENST00000339711.4_In_Frame_Del_p.Q217del			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	217	Gly-rich.|Poly-Gln.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						tggcaaagaccagcagcagcagc	0.655											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(634-636)del		PR domain containing 8			,	0,83,3743		0,0,0,8,67,1838					,	-0.4	0.0			26	6,139,7809		0,0,6,5,129,3837	no	codingComplex,codingComplex	PRDM8	NM_020226.3,NM_001099403.1	,	0,0,6,13,196,5675	A1A1,A1A2,A1R,A2A2,A2R,RR		1.823,2.1694,1.9355	,	,		6,222,11552				SO:0001651	inframe_deletion	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123250_81123252delCAG	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.634_636delCAG	4.37:g.81123259_81123261delCAG	ENSP00000423985:p.Gln217del		OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_In_Frame_Del_p.Q217del|PRDM8_ENST00000415738.2_In_Frame_Del_p.Q217del	p.Q217del	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1865_1867	+			217			Gly-rich.|Poly-Gln.		A8K7X2|Q6IQ36	In_Frame_Del	DEL	ENST00000504452.1	37	c.634_636delCAG	CCDS43243.1																																																																																				0.655	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			10	198						10	198	---	---	---	---
ADAD1	132612	broad.mit.edu	37	4	123302211	123302211	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr4:123302211delA	ENST00000296513.2	+	4	422	c.237delA	c.(235-237)ccafs	p.P79fs	ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs|ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	79					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCCTTCCTCCAAAAAAAATAC	0.358																																						ENST00000296513.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(235-237)ccfs		adenosine deaminase domain containing 1 (testis-specific)							63.0	70.0	68.0					4																	123302211		2202	4300	6502	SO:0001589	frameshift_variant	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123302211delA	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.237delA	4.37:g.123302211delA	ENSP00000296513:p.Pro79fs					ADAD1_ENST00000388724.2_Frame_Shift_Del_p.P79fs|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Frame_Shift_Del_p.P61fs	p.P79fs	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN			4	422	+			79					A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Frame_Shift_Del	DEL	ENST00000296513.2	37	c.237delA	CCDS34058.1																																																																																				0.358	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		7	359						7	359	---	---	---	---
PROP1	5626	broad.mit.edu	37	5	177419902	177419904	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr5:177419902_177419904delTGG	ENST00000308304.2	-	3	795_797	c.487_489delCCA	c.(487-489)ccadel	p.P163del		NM_006261.4	NP_006252	O75360	PROP1_HUMAN	PROP paired-like homeobox 1	163					blood vessel development (GO:0001568)|canonical Wnt signaling pathway (GO:0060070)|cell migration (GO:0016477)|central nervous system development (GO:0007417)|dorsal/ventral pattern formation (GO:0009953)|hypophysis morphogenesis (GO:0048850)|hypothalamus cell differentiation (GO:0021979)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatotropin secreting cell differentiation (GO:0060126)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCAGGTCACTGGTGGTGGTGGT	0.596																																						ENST00000308304.2																			0				endometrium(1)|large_intestine(2)|lung(9)|stomach(1)	13						c.(487-489)del		PROP paired-like homeobox 1																																				SO:0001651	inframe_deletion	5626				central nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:177419902_177419904delTGG	AF076215	CCDS4430.1	5q35.3	2011-06-20	2007-07-12		ENSG00000175325	ENSG00000175325		"""Homeoboxes / PRD class"""	9455	protein-coding gene	gene with protein product		601538	"""prophet of Pit1, paired-like homeodomain transcription factor"""			9462743	Standard	NM_006261		Approved		uc003mif.1	O75360	OTTHUMG00000130887	ENST00000308304.2:c.487_489delCCA	5.37:g.177419911_177419913delTGG	ENSP00000311290:p.Pro163del						p.P163del	NM_006261.4	NP_006252.3	O75360	PROP1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		3	795_797	-	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	163						In_Frame_Del	DEL	ENST00000308304.2	37	c.487_489delCCA	CCDS4430.1																																																																																				0.596	PROP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253472.1	NM_006261		7	137						7	137	---	---	---	---
HLA-DRB6	3128	broad.mit.edu	37	6	32523273	32523274	+	RNA	DEL	GA	GA	-	rs142054686		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:32523273_32523274delGA	ENST00000411500.1	-	0	458					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		ATTCCACTGTGAGAGGGCTCAT	0.396																																						ENST00000411500.1																			0																																																			0							g.chr6:32523273_32523274delGA	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32523275_32523276delGA								NR_001298.1						0	458	-									RNA	DEL	ENST00000411500.1	37																																																																																						0.396	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		16	56						16	56	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155743925	155743926	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr6:155743925_155743926delCA	ENST00000159060.2	-	10	1312_1313	c.1210_1211delTG	c.(1210-1212)tgcfs	p.C404fs		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	404					detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CGCGGCAACGCACACACACACT	0.53																																						ENST00000159060.2																			0				cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45						c.(1210-1212)cfs		NADPH oxidase 3																																				SO:0001589	frameshift_variant	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155743925_155743926delCA	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1210_1211delTG	6.37:g.155743933_155743934delCA	ENSP00000159060:p.Cys404fs						p.C404fs	NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	10	1312_1313	-		Breast(66;0.0183)	404					Q9HBJ9	Frame_Shift_Del	DEL	ENST00000159060.2	37	c.1210_1211delTG	CCDS5250.1																																																																																				0.530	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			8	583						8	583	---	---	---	---
BBS9	27241	broad.mit.edu	37	7	33312723	33312723	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:33312723delT	ENST00000242067.6	+	8	1323	c.802delT	c.(802-804)tttfs	p.F269fs	BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	269					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TGAGAGAAACTTTTTTTGCCT	0.393									Bardet-Biedl syndrome																													ENST00000242067.6																		BBS9/PKD1L1(2)	0				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50						c.(802-804)ttfs		Bardet-Biedl syndrome 9							211.0	205.0	207.0					7																	33312723		2203	4300	6503	SO:0001589	frameshift_variant	27241	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33312723delT		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.802delT	7.37:g.33312723delT	ENSP00000242067:p.Phe269fs					BBS9_ENST00000396127.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000355070.2_Frame_Shift_Del_p.F269fs|BBS9_ENST00000354265.4_Frame_Shift_Del_p.F269fs|BBS9_ENST00000350941.3_Frame_Shift_Del_p.F269fs|BBS9_ENST00000425508.2_Frame_Shift_Del_p.F224fs	p.F269fs	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		8	1323	+			269					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Frame_Shift_Del	DEL	ENST00000242067.6	37	c.802delT	CCDS43566.1																																																																																				0.393	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			7	805						7	805	---	---	---	---
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:39379288_39379290delCAG	ENST00000403058.1	+	6	713_715	c.559_561delCAG	c.(559-561)cagdel	p.Q196del	POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000518318.2_In_Frame_Del_p.Q196del|POU6F2_ENST00000517348.1_3'UTR	NM_001166018.1|NM_007252.3	NP_001159490.1|NP_009183.3	P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728). {ECO:0000305}.	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						gctccagctccagcagcagcagc	0.616																																						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.(559-561)del		POU class 6 homeobox 2																																				SO:0001651	inframe_deletion	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.chr7:39379288_39379290delCAG	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.559_561delCAG	7.37:g.39379297_39379299delCAG	ENSP00000384004:p.Gln196del					POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del|POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR	p.Q196del			P78424	PO6F2_HUMAN			5	601_603	+			196	Q -> QQ (in Ref. 1; AAB49727/AAB49728).		Gln-rich.		A4D1W2|C4AMB9|P78425|Q75ME8|Q86UM6|Q9UDS7	In_Frame_Del	DEL	ENST00000403058.1	37	c.559_561delCAG	CCDS34620.2																																																																																				0.616	POU6F2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320146.3	NM_007252		8	114						8	114	---	---	---	---
TRBV6-6	28601	broad.mit.edu	37	7	142162268	142162268	+	RNA	DEL	G	G	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:142162268delG	ENST00000390371.3	-	0	93									T cell receptor beta variable 6-6																		CCAATGGAAAGGGGCTGGGCC	0.567																																						ENST00000390371.3																			0																				53.0	54.0	54.0					7																	142162268		1883	4108	5991			0							g.chr7:142162268delG	L36092		7q34	2012-02-07			ENSG00000211724	ENSG00000211724		"""T cell receptors / TRB locus"""	12231	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV66, TCRBV13S6A2T, TCRBV6S6			OTTHUMG00000158509		7.37:g.142162268delG														0	93	-									RNA	DEL	ENST00000390371.3	37																																																																																						0.567	TRBV6-6-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351215.2	NG_001333		7	361						7	361	---	---	---	---
RBM33	155435	broad.mit.edu	37	7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53																																						ENST00000401878.3																			0				breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27						c.(1711-1716)cccafs		RNA binding motif protein 33																																				SO:0001589	frameshift_variant	155435						nucleotide binding|RNA binding	g.chr7:155531073_155531074delCA	AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.1713_1714delCA	7.37:g.155531083_155531084delCA	ENSP00000384160:p.Thr572fs						p.PT571fs	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)	11	1911_1912	+	all_neural(206;0.101)	all_hematologic(28;0.0592)	571			Pro-rich.		A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Frame_Shift_Del	DEL	ENST00000401878.3	37	c.1713_1714delCA	CCDS5941.2																																																																																				0.530	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317225.3	NM_001008408		9	315						9	315	---	---	---	---
C5	727	broad.mit.edu	37	9	123785771	123785772	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr9:123785771_123785772insT	ENST00000223642.1	-	10	1055_1056	c.1026_1027insA	c.(1024-1029)atacctfs	p.P343fs		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	343					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TTGATGCCAGGTATTTCTGCCT	0.411																																						ENST00000223642.1																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1024-1029)atctggfs		complement component 5	Eculizumab(DB01257)																																			SO:0001589	frameshift_variant	727				activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity	g.chr9:123785771_123785772insT	M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1027dupA	9.37:g.123785772_123785772dupT	ENSP00000223642:p.Pro343fs						p.W343fs	NM_001735.2	NP_001726.2	P01031	CO5_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	10	1055_1056	-			343					Q14CJ0|Q27I61	Frame_Shift_Ins	INS	ENST00000223642.1	37	c.1026_1027insA	CCDS6826.1																																																																																				0.411	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053844.1	NM_001735		180	179						180	179	---	---	---	---
ANK3	288	broad.mit.edu	37	10	61828745	61828747	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr10:61828745_61828747delGTG	ENST00000280772.2	-	37	12083_12085	c.11892_11894delCAC	c.(11890-11895)accact>act	p.3964_3965TT>T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3964	Thr-rich.				axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ggtggtggcagtggtggtggtgg	0.498																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(11890-11895)act>ac		ankyrin 3, node of Ranvier (ankyrin G)																																				SO:0001651	inframe_deletion	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61828745_61828747delGTG	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.11892_11894delCAC	10.37:g.61828754_61828756delGTG	ENSP00000280772:p.Thr3965del					ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	p.TT3964del	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	12083_12085	-			3964			Thr-rich.		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	In_Frame_Del	DEL	ENST00000280772.2	37	c.11892_11894delCAC	CCDS7258.1																																																																																				0.498	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		7	371						7	371	---	---	---	---
FADS2	9415	broad.mit.edu	37	11	61607885	61607887	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:61607885_61607887delTCC	ENST00000278840.4	+	3	1028_1030	c.398_400delTCC	c.(397-402)ttcctc>ttc	p.L137del	FADS2_ENST00000522056.1_In_Frame_Del_p.L106del|FADS2_ENST00000257261.6_In_Frame_Del_p.L115del|FADS2_ENST00000521849.1_In_Frame_Del_p.L137del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	137				LLLL -> RTRG (in Ref. 9; CAB43280). {ECO:0000305}.	alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537																																						ENST00000278840.4																			0				breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(397-402)ttc>t		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)																																			SO:0001651	inframe_deletion	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61607885_61607887delTCC	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.398_400delTCC	11.37:g.61607894_61607896delTCC	ENSP00000278840:p.Leu137del					FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del	p.FL133del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			3	1028_1030	+			133					A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	In_Frame_Del	DEL	ENST00000278840.4	37	c.398_400delTCC	CCDS8012.1																																																																																				0.537	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		8	836						8	836	---	---	---	---
INTS5	80789	broad.mit.edu	37	11	62416219	62416221	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:62416219_62416221delGCA	ENST00000330574.2	-	2	1383_1385	c.1331_1333delTGC	c.(1330-1335)ctgcac>cac	p.L444del	GANAB_ENST00000534779.1_5'Flank|GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000346178.4_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	444					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						TTTTGCAGGTGCAGCAGCAGCAG	0.621																																						ENST00000330574.2																			0				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1330-1335)cac>c		integrator complex subunit 5																																				SO:0001651	inframe_deletion	80789				snRNA processing	integral to membrane|integrator complex	protein binding	g.chr11:62416219_62416221delGCA	AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.1331_1333delTGC	11.37:g.62416228_62416230delGCA	ENSP00000327889:p.Leu444del						p.LH444del	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN			2	1383_1385	-			444					Q8N6W5|Q9C0G5	In_Frame_Del	DEL	ENST00000330574.2	37	c.1331_1333delTGC	CCDS8027.1																																																																																				0.621	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395327.1	NM_030628		7	332						7	332	---	---	---	---
MYO7A	4647	broad.mit.edu	37	11	76873960	76873961	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:76873960_76873961insC	ENST00000409709.3	+	14	1888_1889	c.1616_1617insC	c.(1615-1620)atccccfs	p.IP539fs	MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.IP539fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.IP539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.IP528fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	539	Myosin motor.				actin filament-based movement (GO:0030048)|auditory receptor cell stereocilium organization (GO:0060088)|equilibrioception (GO:0050957)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|lysosome organization (GO:0007040)|metabolic process (GO:0008152)|phagolysosome assembly (GO:0001845)|pigment granule transport (GO:0051904)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|myosin VII complex (GO:0031477)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|stereocilium (GO:0032420)|synapse (GO:0045202)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|spectrin binding (GO:0030507)	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564																																						ENST00000409709.3																			1	Deletion - Frameshift(1)	p.K542fs*80(1)	large_intestine(1)	NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(1615-1617)accfs		myosin VIIA																																				SO:0001589	frameshift_variant	4647				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	g.chr11:76873960_76873961insC	U39226	CCDS53683.1, CCDS53684.1, CCDS53685.1	11q13.5	2013-01-08	2005-09-12		ENSG00000137474	ENSG00000137474		"""A-kinase anchor proteins"", ""Myosins / Myosin superfamily : Class VII"""	7606	protein-coding gene	gene with protein product		276903	"""myosin VIIA (Usher syndrome 1B (autosomal recessive, severe))"""	USH1B, DFNB2, DFNA11		8884266	Standard	NM_000260		Approved	NSRD2	uc001oyb.2	Q13402	OTTHUMG00000152822	ENST00000409709.3:c.1623dupC	11.37:g.76873967_76873967dupC	ENSP00000386331:p.Ile539fs					MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.T528fs	p.T539fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN			14	1888_1889	+			539			Myosin head-like.		B9A011|F8VUN5|P78427|Q13321|Q14785|Q92821|Q92822	Frame_Shift_Ins	INS	ENST00000409709.3	37	c.1616_1617insC	CCDS53683.1																																																																																				0.564	MYO7A-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328133.1	NM_000260		7	789						7	789	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89407177	89407177	+	RNA	DEL	C	C	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:89407177delC	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTTTTTTTTCCCCAATCTGG	0.303																																						ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B																																						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89407177delC	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89407177delC										Q9HBA9	FOH1B_HUMAN			0	1114	+									RNA	DEL	ENST00000532352.1	37																																																																																						0.303	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		7	157						7	157	---	---	---	---
DDX10	1662	broad.mit.edu	37	11	108788635	108788637	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:108788635_108788637delTGA	ENST00000322536.3	+	17	2469_2471	c.2340_2342delTGA	c.(2338-2343)agtgat>agt	p.D788del	DDX10_ENST00000526794.1_In_Frame_Del_p.D788del	NM_004398.2	NP_004389.2	Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	788					metabolic process (GO:0008152)		ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TGGATTGGAGtgatgatgatgat	0.355			T	NUP98	AML*																																	ENST00000526794.1				Dom	yes		11	11q22-q23	1662	T	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10			L	NUP98		AML*		0				breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27						c.(2338-2343)agt>ag		DEAD (Asp-Glu-Ala-Asp) box polypeptide 10				25,260,77,3902		0,2,0,23,4,0,250,5,67,1781						4.9	1.0			85	14,28,155,8057		0,0,0,14,0,0,28,12,131,3942	no	codingComplex	DDX10	NM_004398.2		0,2,0,37,4,0,278,17,198,5723	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		2.3867,8.4897,4.4656				39,288,232,11959				SO:0001651	inframe_deletion	1662						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	g.chr11:108788635_108788637delTGA	U28042	CCDS8342.1	11q22-q23	2005-10-11	2003-06-13		ENSG00000178105	ENSG00000178105		"""DEAD-boxes"""	2735	protein-coding gene	gene with protein product		601235	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 10 (RNA helicase)"""			8660968	Standard	NM_004398		Approved	HRH-J8	uc001pkm.3	Q13206	OTTHUMG00000166540	ENST00000322536.3:c.2340_2342delTGA	11.37:g.108788644_108788646delTGA	ENSP00000314348:p.Asp788del					DDX10_ENST00000322536.3_In_Frame_Del_p.SD780del	p.SD780del			Q13206	DDX10_HUMAN		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)	17	2372_2374	+		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)	780					B2RCQ3|Q5BJD8	In_Frame_Del	DEL	ENST00000322536.3	37	c.2340_2342delTGA	CCDS8342.1																																																																																				0.355	DDX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390343.1	NM_004398		7	356						7	356	---	---	---	---
PVRL1	5818	broad.mit.edu	37	11	119535678	119535680	+	In_Frame_Del	DEL	CCT	CCT	-	rs539461545|rs375181781|rs369523216		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr11:119535678_119535680delCCT	ENST00000264025.3	-	6	1861_1863	c.1331_1333delAGG	c.(1330-1335)gagggc>ggc	p.E444del	PVRL1_ENST00000341398.2_Intron	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	444	Poly-Glu.				adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|desmosome organization (GO:0002934)|enamel mineralization (GO:0070166)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|immune response (GO:0006955)|iron ion transport (GO:0006826)|lens morphogenesis in camera-type eye (GO:0002089)|regulation of synapse assembly (GO:0051963)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|viral entry into host cell (GO:0046718)	adherens junction (GO:0005912)|axon (GO:0030424)|cell-cell adherens junction (GO:0005913)|extracellular region (GO:0005576)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|protein homodimerization activity (GO:0042803)|virion binding (GO:0046790)|virus receptor activity (GO:0001618)	p.E444fs*>73(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCTCCACCGCcctcctcctcctc	0.66																																						ENST00000264025.3																			1	Deletion - Frameshift(1)	p.E444fs*>73(1)	kidney(1)	breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(1330-1335)ggc>g		poliovirus receptor-related 1 (herpesvirus entry mediator C)																																				SO:0001651	inframe_deletion	5818				adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr11:119535678_119535680delCCT	X76400	CCDS8425.1, CCDS8426.1, CCDS8427.1	11q23-q24	2013-01-29	2007-06-07		ENSG00000110400	ENSG00000110400		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9706	protein-coding gene	gene with protein product	"""nectin"""	600644		HVEC, ED4		7721102, 9616127	Standard	NM_203285		Approved	PRR, PRR1, PVRR1, SK-12, HIgR, CLPED1, CD111, OFC7	uc001pwv.3	Q15223	OTTHUMG00000166177	ENST00000264025.3:c.1331_1333delAGG	11.37:g.119535687_119535689delCCT	ENSP00000264025:p.Glu444del					PVRL1_ENST00000341398.2_Intron	p.EG444del	NM_002855.4	NP_002846.3	Q15223	PVRL1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)	6	1861_1863	-		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	444			Poly-Glu.		O75465|Q2M3D3|Q9HBE6|Q9HBW2	In_Frame_Del	DEL	ENST00000264025.3	37	c.1331_1333delAGG	CCDS8426.1																																																																																				0.660	PVRL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388231.1			8	165						8	165	---	---	---	---
DNM1L	10059	broad.mit.edu	37	12	32861115	32861117	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:32861115_32861117delAAG	ENST00000549701.1	+	4	400_402	c.326_328delAAG	c.(325-330)caagaa>caa	p.E110del	Y_RNA_ENST00000364693.1_RNA|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000381000.4_In_Frame_Del_p.E123del|DNM1L_ENST00000266481.6_In_Frame_Del_p.E110del|DNM1L_ENST00000547312.1_In_Frame_Del_p.E110del|DNM1L_ENST00000358214.5_In_Frame_Del_p.E123del|DNM1L_ENST00000452533.2_In_Frame_Del_p.E110del|DNM1L_ENST00000553257.1_In_Frame_Del_p.E123del|DNM1L_ENST00000548671.1_3'UTR			O00429	DNM1L_HUMAN	dynamin 1-like	110	Dynamin-type G.|GTPase domain.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|dynamin polymerization involved in mitochondrial fission (GO:0003374)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|membrane fission involved in mitochondrial fission (GO:0090149)|membrane fusion (GO:0061025)|mitochondrial fission (GO:0000266)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mitochondrion morphogenesis (GO:0070584)|necroptotic process (GO:0070266)|peroxisome fission (GO:0016559)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein secretion (GO:0050714)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|protein homotetramerization (GO:0051289)|protein localization to mitochondrion (GO:0070585)|regulation of mitochondrion organization (GO:0010821)|regulation of peroxisome organization (GO:1900063)|regulation of protein oligomerization (GO:0032459)|release of cytochrome c from mitochondria (GO:0001836)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)|protein complex (GO:0043234)|synapse (GO:0045202)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAAATTCGACAAGAAATTGAAAA	0.291																																						ENST00000452533.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23						c.(325-330)caa>c		dynamin 1-like																																				SO:0001651	inframe_deletion	10059				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	g.chr12:32861115_32861117delAAG	AF000430	CCDS8728.1, CCDS8729.1, CCDS8730.1, CCDS61095.1, CCDS61096.1, CCDS61098.1, CCDS61099.1	12p11.21	2012-10-02			ENSG00000087470	ENSG00000087470			2973	protein-coding gene	gene with protein product		603850				9348079, 9731200	Standard	NM_012062		Approved	DRP1, DVLP, HDYNIV, DYMPLE, VPS1	uc001rld.2	O00429	OTTHUMG00000169451	ENST00000549701.1:c.326_328delAAG	12.37:g.32861115_32861117delAAG	ENSP00000450399:p.Glu110del					DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000553257.1_In_Frame_Del_p.QE122del|DNM1L_ENST00000547312.1_In_Frame_Del_p.QE109del|DNM1L_ENST00000266481.6_In_Frame_Del_p.QE109del|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000549701.1_In_Frame_Del_p.QE109del|DNM1L_ENST00000381000.4_In_Frame_Del_p.QE122del|DNM1L_ENST00000358214.5_In_Frame_Del_p.QE122del	p.QE109del	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN			4	490_492	+	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)		109			GTPase domain.		A8K4X9|B4DGC9|B4DSU8|J3KPI2|O14541|O60709|Q59GN9|Q7L6B3|Q8TBT7|Q9BWM1|Q9Y5J2	In_Frame_Del	DEL	ENST00000549701.1	37	c.326_328delAAG	CCDS8729.1																																																																																				0.291	DNM1L-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404124.1	NM_012062		77	103						77	103	---	---	---	---
OR10A7	121364	broad.mit.edu	37	12	55615114	55615116	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:55615114_55615116delCTT	ENST00000326258.1	+	1	306_308	c.306_308delCTT	c.(304-309)tacttc>tac	p.F107del		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	107						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						CCCAGATGTACTTCTTCTTCTTC	0.414																																						ENST00000326258.1																			0				endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						c.(304-309)tac>ta		olfactory receptor, family 10, subfamily A, member 7																																				SO:0001651	inframe_deletion	121364				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55615114_55615116delCTT	BK004327	CCDS31815.1	12q13.13	2012-08-09				ENSG00000179919		"""GPCR / Class A : Olfactory receptors"""	15329	protein-coding gene	gene with protein product							Standard	NM_001005280		Approved		uc010spf.2	Q8NGE5	OTTHUMG00000169860	ENST00000326258.1:c.306_308delCTT	12.37:g.55615123_55615125delCTT	ENSP00000326718:p.Phe107del						p.YF102del	NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN			1	306_308	+			102					Q6IFD5|Q96R19	In_Frame_Del	DEL	ENST00000326258.1	37	c.306_308delCTT	CCDS31815.1																																																																																				0.414	OR10A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406308.1			7	608						7	608	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)agcdel	p.S45del	ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000547843.1_5'Flank|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(133-135)del		zinc finger, C3H1-type containing				2,34,3866		0,0,2,4,26,1919						4.0	1.0			58	1,83,7932		0,0,1,9,65,3933	no	codingComplex	ZFC3H1	NM_144982.4		0,0,3,13,91,5852	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0479,0.9226,1.0069				3,117,11798				SO:0001651	inframe_deletion	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057256_72057258delGCT	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.133_135delAGC	12.37:g.72057265_72057267delGCT	ENSP00000368017:p.Ser45del		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del	p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	491_493	-			45			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	In_Frame_Del	DEL	ENST00000378743.3	37	c.133_135delAGC	CCDS41813.1																																																																																				0.631	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		9	482						9	482	---	---	---	---
HVCN1	84329	broad.mit.edu	37	12	111099110	111099112	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:111099110_111099112delCTC	ENST00000356742.5	-	3	916_918	c.163_165delGAG	c.(163-165)gagdel	p.E55del	HVCN1_ENST00000242607.8_In_Frame_Del_p.E55del|HVCN1_ENST00000548312.1_In_Frame_Del_p.E55del|HVCN1_ENST00000439744.2_In_Frame_Del_p.E35del			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	55	Poly-Glu.				cellular response to pH (GO:0071467)|cellular response to zinc ion (GO:0071294)|multicellular organism reproduction (GO:0032504)|proton transport (GO:0015992)|response to pH (GO:0009268)|response to zinc ion (GO:0010043)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	voltage-gated cation channel activity (GO:0022843)|voltage-gated proton channel activity (GO:0030171)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						GTGGTGGCTGctcctcctcctcc	0.606																																						ENST00000356742.5																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						c.(163-165)del		hydrogen voltage-gated channel 1																																				SO:0001651	inframe_deletion	84329				response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	g.chr12:111099110_111099112delCTC	BC007277	CCDS31900.1, CCDS58278.1	12q24.11	2011-12-09	2006-03-24	2006-03-24	ENSG00000122986	ENSG00000122986		"""Voltage-gated ion channels / Hydrogen voltage-gated channel"""	28240	protein-coding gene	gene with protein product	"""voltage sensor domain-only protein"""	611227				20961760, 16556803, 18356202, 22020278	Standard	NM_032369		Approved	MGC15619, Hv1, VSOP	uc001trs.2	Q96D96		ENST00000356742.5:c.163_165delGAG	12.37:g.111099119_111099121delCTC	ENSP00000349181:p.Glu55del					HVCN1_ENST00000548312.1_In_Frame_Del_p.E55del|HVCN1_ENST00000242607.8_In_Frame_Del_p.E55del|HVCN1_ENST00000439744.2_In_Frame_Del_p.E35del	p.E55del			Q96D96	HVCN1_HUMAN			3	916_918	-			55			Poly-Glu.		A8MQ37|B4DEB3|F8WCH5|Q6UW11|Q96IS5	In_Frame_Del	DEL	ENST00000356742.5	37	c.163_165delGAG	CCDS31900.1																																																																																				0.606	HVCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404653.1	NM_032369		7	239						7	239	---	---	---	---
MLEC	9761	broad.mit.edu	37	12	121134166	121134168	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr12:121134166_121134168delGAA	ENST00000228506.3	+	5	1125_1127	c.697_699delGAA	c.(697-699)gaadel	p.E238del	RP11-173P15.3_ENST00000541383.1_RNA|MLEC_ENST00000412616.2_In_Frame_Del_p.K159del|RP11-173P15.3_ENST00000535720.1_RNA	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN	malectin	238	Poly-Glu.				cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|enzyme binding (GO:0019899)	p.E233E(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						gaaagaagaggaagaagaagaag	0.458																																						ENST00000228506.3																			1	Substitution - coding silent(1)	p.E233E(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	16						c.(697-699)del		malectin				4,33,4227		0,0,4,8,17,2103						1.0	1.0			129	1,29,8224		0,0,1,6,17,4103	no	codingComplex	MLEC	NM_014730.2		0,0,5,14,34,6206	A1A1,A1A2,A1R,A2A2,A2R,RR		0.3635,0.8677,0.5352				5,62,12451				SO:0001651	inframe_deletion	9761				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	carbohydrate binding	g.chr12:121134166_121134168delGAA	BC000371	CCDS9206.1	12q24.31	2013-03-06	2008-11-05	2008-11-05	ENSG00000110917	ENSG00000110917			28973	protein-coding gene	gene with protein product	"""oligosaccharyltransferase complex subunit (non-catalytic)"""	613802	"""KIAA0152"""	KIAA0152		18524852	Standard	NM_014730		Approved		uc001tyy.1	Q14165	OTTHUMG00000169187	ENST00000228506.3:c.697_699delGAA	12.37:g.121134175_121134177delGAA	ENSP00000228506:p.Glu238del					MLEC_ENST00000412616.2_In_Frame_Del_p.RK154del	p.E238del	NM_014730.2	NP_055545.1	Q14165	MLEC_HUMAN			5	1125_1127	+			238			Poly-Glu.			In_Frame_Del	DEL	ENST00000228506.3	37	c.697_699delGAA	CCDS9206.1																																																																																				0.458	MLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402781.2	NM_014730		9	572						9	572	---	---	---	---
ZMYM5	9205	broad.mit.edu	37	13	20426143	20426145	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:20426143_20426145delCAT	ENST00000337963.4	-	3	440_442	c.176_178delATG	c.(175-180)gatgtt>gtt	p.D59del	ZMYM5_ENST00000382905.4_In_Frame_Del_p.D59del|ZMYM5_ENST00000382907.4_In_Frame_Del_p.D59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	59	Poly-Asp.					nucleus (GO:0005634)	zinc ion binding (GO:0008270)			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		ATAAACACAAcatcatcatcatc	0.379																																						ENST00000337963.4																			0				kidney(1)|large_intestine(5)|lung(9)	15						c.(175-180)gtt>g		zinc finger, MYM-type 5																																				SO:0001651	inframe_deletion	9205					nucleus	zinc ion binding	g.chr13:20426143_20426145delCAT	AF161535	CCDS31942.1, CCDS31943.1	13q12	2013-01-08	2005-09-12	2005-09-12	ENSG00000132950	ENSG00000132950		"""Zinc fingers, MYM type"""	13029	protein-coding gene	gene with protein product			"""zinc finger protein 237"""	ZNF237			Standard	NM_001039650		Approved	ZNF198L1, MYM	uc010tcn.1	Q9UJ78	OTTHUMG00000016504	ENST00000337963.4:c.176_178delATG	13.37:g.20426152_20426154delCAT	ENSP00000337034:p.Asp59del					ZMYM5_ENST00000382907.4_In_Frame_Del_p.DV59del|ZMYM5_ENST00000382905.4_In_Frame_Del_p.DV59del	p.DV59del	NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)	3	440_442	-		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	59			Poly-Asp.		B2R6V1|Q5T6E1|Q5T6E2|Q5T6E4|Q96IY6|Q9NZY5|Q9UBW0|Q9UJ77	In_Frame_Del	DEL	ENST00000337963.4	37	c.176_178delATG																																																																																					0.379	ZMYM5-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_014242		7	427						7	427	---	---	---	---
ZIC2	7546	broad.mit.edu	37	13	100635008	100635010	+	In_Frame_Del	DEL	CCA	CCA	-	rs375069774		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr13:100635008_100635010delCCA	ENST00000376335.3	+	1	983_985	c.690_692delCCA	c.(688-693)gcccac>gcc	p.H239del		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	239	Necessary for interaction with MDFIC and transcriptional activation or repression. {ECO:0000250}.|Poly-His.		H -> HH. {ECO:0000269|PubMed:15221788}.|Missing. {ECO:0000269|PubMed:15221788}.		brain development (GO:0007420)|developmental pigmentation (GO:0048066)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal ganglion cell axon guidance (GO:0031290)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCCGCGGCccaccaccaccac	0.621																																					Pancreas(97;119 1522 31925 44771 48764)	ENST00000376335.3																			0				large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(688-693)gcc>gc		Zic family member 2																																				SO:0001651	inframe_deletion	7546				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr13:100635008_100635010delCCA	AF104902	CCDS9495.1	13q32	2013-01-08	2011-05-19		ENSG00000043355	ENSG00000043355		"""Zinc fingers, C2H2-type"""	12873	protein-coding gene	gene with protein product	"""Zinc finger protein of the cerebellum 2"""	603073	"""Zic family member 2 (odd-paired Drosophila homolog)"", ""Zic family member 2 (odd-paired homolog, Drosophila)"""			9771712	Standard	NM_007129		Approved	HPE5	uc001von.3	O95409	OTTHUMG00000017279	ENST00000376335.3:c.690_692delCCA	13.37:g.100635017_100635019delCCA	ENSP00000365514:p.His239del						p.AH230del	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN			1	983_985	+	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		230			Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).|Poly-Ala.		Q5VYA9|Q9H309	In_Frame_Del	DEL	ENST00000376335.3	37	c.690_692delCCA	CCDS9495.1																																																																																				0.621	ZIC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045618.2	NM_007129		11	300						11	300	---	---	---	---
MIS18BP1	55320	broad.mit.edu	37	14	45693722	45693722	+	Frame_Shift_Del	DEL	T	T	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:45693722delT	ENST00000310806.4	-	11	2526	c.2068delA	c.(2068-2070)agtfs	p.S690fs		NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN	MIS18 binding protein 1	690					CENP-A containing nucleosome assembly (GO:0034080)|mitotic nuclear division (GO:0007067)|nucleosome assembly (GO:0006334)	chromosome, centromeric region (GO:0000775)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						CTGATGGGACTTTTTTTTTGA	0.373																																						ENST00000310806.4																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	39						c.(2068-2070)gtfs		MIS18 binding protein 1				10,4254		2,6,2124	97.0	100.0	99.0			-1.0	0.0	14		100	20,8234		2,16,4109	no	frameshift	MIS18BP1	NM_018353.4		4,22,6233	A1A1,A1R,RR		0.2423,0.2345,0.2397			45693722	30,12488	2203	4300	6503	SO:0001589	frameshift_variant	55320				cell division|CenH3-containing nucleosome assembly at centromere|mitosis	chromosome, centromeric region|nucleoplasm	DNA binding	g.chr14:45693722delT	AB067490	CCDS9684.1	14q21.1	2011-06-03	2011-02-23	2011-02-23	ENSG00000129534	ENSG00000129534			20190	protein-coding gene	gene with protein product	"""kinetochore null 2 homolog (C. elegans)"""		"""chromosome 14 open reading frame 106"""	C14orf106		17339379, 17199038	Standard	NM_018353		Approved	M18BP1, FLJ11186, KIAA1903, KNL2	uc001wwf.3	Q6P0N0	OTTHUMG00000140266	ENST00000310806.4:c.2068delA	14.37:g.45693722delT	ENSP00000309790:p.Ser690fs						p.S690fs	NM_018353.4	NP_060823.3	Q6P0N0	M18BP_HUMAN			11	2526	-			690					D3DSA7|Q86V14|Q96PY4|Q9NUR5|Q9Y4X9	Frame_Shift_Del	DEL	ENST00000310806.4	37	c.2068delA	CCDS9684.1																																																																																				0.373	MIS18BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276795.2			16	530						16	530	---	---	---	---
IGHV3-21	28444	broad.mit.edu	37	14	106691799	106691801	+	RNA	DEL	ACT	ACT	-	rs553767931|rs571911882	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr14:106691799_106691801delACT	ENST00000390607.2	-	0	301_303									immunoglobulin heavy variable 3-21																		AGTATATGTAACTACTACTACTA	0.517																																						ENST00000390607.2																			0																																																			0							g.chr14:106691799_106691801delACT	Z14073		14q32.33	2012-02-08			ENSG00000211947	ENSG00000211947		"""Immunoglobulins / IGH locus"""	5586	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152279		14.37:g.106691808_106691810delACT														0	301_303	-									RNA	DEL	ENST00000390607.2	37																																																																																						0.517	IGHV3-21-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325667.1	NG_001019		7	1278						7	1278	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23331163	23331163	+	RNA	DEL	A	A	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:23331163delA	ENST00000560464.1	-	0	908									hect domain and RLD 2 pseudogene 2																		AATAAATACTAAAAAAAAAAA	0.368																																						ENST00000560464.1																			0																																																			0							g.chr15:23331163delA	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23331163delA														0	908	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.368	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			9	42						9	42	---	---	---	---
UBE2Q2P1	388165	broad.mit.edu	37	15	85077360	85077360	+	RNA	DEL	A	A	-	rs376357384	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:85077360delA	ENST00000339094.1	-	0	1678					NR_003661.2				ubiquitin-conjugating enzyme E2Q family member 2 pseudogene 1																		tttttaaactaaaaaaaaaaa	0.373													|||unknown(NO_COVERAGE)	2110	0.421326	0.4274	0.4049	5008	,	,		13748	0.4395		0.4095	False		,,,				2504	0.4182					ENST00000339094.1																			0																																																			0							g.chr15:85077360delA			15q25.2	2013-11-05	2009-12-17	2009-12-17	ENSG00000189136	ENSG00000189136			37439	pseudogene	pseudogene			"""ubiquitin-conjugating enzyme E2Q family pseudogene 1"""	UBE2QP1			Standard	NR_003661		Approved	FLJ43276	uc002bkn.1		OTTHUMG00000148662		15.37:g.85077360delA								NR_003661.2						0	1678	-									RNA	DEL	ENST00000339094.1	37																																																																																						0.373	UBE2Q2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000308970.2	NR_003661		18	24						18	24	---	---	---	---
RP11-266O8.1	0	broad.mit.edu	37	15	93974509	93974510	+	lincRNA	DEL	TC	TC	-	rs376790777|rs57286078|rs534087513|rs552210225	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr15:93974509_93974510delTC	ENST00000543286.1	+	0	545																											TTGGCTGGGTTCtttttttttt	0.431																																						ENST00000543286.1																			0																																																			0							g.chr15:93974509_93974510delTC																													15.37:g.93974509_93974510delTC														0	545	+									RNA	DEL	ENST00000543286.1	37																																																																																						0.431	RP11-266O8.1-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000415156.1			8	121						8	121	---	---	---	---
HERC2P4	100289574	broad.mit.edu	37	16	32126912	32126912	+	IGR	DEL	A	A	-	rs371297979		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:32126912delA								RP11-1166P10.6 (30806 upstream) : HERC2P4 (54392 downstream)																							TATTTTGCCCACCCGCCGCCG	0.602																																						ENST00000564145.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr16:32126912delA																													16.37:g.32126912delA														0	456	-									RNA	DEL		37																																																																																					0	0.602									17	19						17	19	---	---	---	---
ANKRD11	29123	broad.mit.edu	37	16	89349640	89349641	+	Frame_Shift_Ins	INS	-	-	T			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr16:89349640_89349641insT	ENST00000301030.4	-	9	3769_3770	c.3309_3310insA	c.(3307-3312)aaagatfs	p.D1104fs	ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.D1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1104	Lys-rich.				bone development (GO:0060348)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|odontogenesis of dentin-containing tooth (GO:0042475)|skeletal system morphogenesis (GO:0048705)|tissue homeostasis (GO:0001894)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGTCATCTTTTTTTTCAG	0.465																																						ENST00000301030.4																			0				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83						c.(3307-3312)aaatgafs		ankyrin repeat domain 11																																				SO:0001589	frameshift_variant	29123					nucleus		g.chr16:89349640_89349641insT	AY373756	CCDS32513.1	16q24.3	2013-01-10				ENSG00000167522		"""Ankyrin repeat domain containing"""	21316	protein-coding gene	gene with protein product		611192				11483580	Standard	NM_001256182		Approved	LZ16, T13	uc002fnc.2	Q6UB99		ENST00000301030.4:c.3310dupA	16.37:g.89349648_89349648dupT	ENSP00000301030:p.Asp1104fs					ANKRD11_ENST00000378330.2_Frame_Shift_Ins_p.*1104fs	p.*1104fs	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)	9	3769_3770	-		all_hematologic(23;0.00824)|Colorectal(91;0.0475)	1104			Lys-rich.		Q6NTG1|Q6QMF8	Frame_Shift_Ins	INS	ENST00000301030.4	37	c.3309_3310insA	CCDS32513.1																																																																																				0.465	ANKRD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000430462.3	NM_013275		11	729						11	729	---	---	---	---
CHD3	1107	broad.mit.edu	37	17	7801857	7801859	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:7801857_7801859delAAG	ENST00000330494.7	+	13	2245_2247	c.2095_2097delAAG	c.(2095-2097)aagdel	p.K703del	CHD3_ENST00000358181.4_In_Frame_Del_p.K703del|CHD3_ENST00000380358.4_In_Frame_Del_p.K762del	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	703	Poly-Lys.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CCGCAAGTATAAGAAGAAGAAGA	0.488																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(2272-2274)del		chromodomain helicase DNA binding protein 3			,,	1,4263		0,1,2131					,,	-0.1	1.0			78	5,8249		0,5,4122	no	coding,coding,coding	CHD3	NM_005852.3,NM_001005273.2,NM_001005271.2	,,	0,6,6253	A1A1,A1R,RR		0.0606,0.0235,0.0479	,,	,,		6,12512				SO:0001651	inframe_deletion	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7801857_7801859delAAG	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2095_2097delAAG	17.37:g.7801866_7801868delAAG	ENSP00000332628:p.Lys703del					CHD3_ENST00000330494.7_In_Frame_Del_p.K703del|CHD3_ENST00000358181.4_In_Frame_Del_p.K703del	p.K762del	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			13	2273_2275	+		Prostate(122;0.202)	703			Helicase ATP-binding.		D3DTQ9|E9PG89|Q9Y4I0	In_Frame_Del	DEL	ENST00000330494.7	37	c.2272_2274delAAG	CCDS32554.1																																																																																				0.488	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		8	274						8	274	---	---	---	---
MIEF2	125170	broad.mit.edu	37	17	18167778	18167780	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:18167778_18167780delGCT	ENST00000323019.4	+	4	1276_1278	c.1065_1067delGCT	c.(1063-1068)cggctg>cgg	p.L360del	MIEF2_ENST00000395706.2_In_Frame_Del_p.L371del|MIEF2_ENST00000395704.4_3'UTR	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	MID49_HUMAN	mitochondrial elongation factor 2	360					mitochondrion organization (GO:0007005)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein homooligomerization (GO:0032464)|positive regulation of protein targeting to membrane (GO:0090314)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.L356R(1)									CTCGCCGGCGGCTGCTGCTGCTG	0.685																																						ENST00000323019.4																			1	Substitution - Missense(1)	p.L356R(1)	central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9						c.(1063-1068)cgg>cg																																						SO:0001651	inframe_deletion	0					integral to membrane	protein binding	g.chr17:18167778_18167780delGCT	BC014973	CCDS11193.1, CCDS45624.1, CCDS45625.1	17p11.2	2013-09-23	2013-09-23	2013-09-23	ENSG00000177427	ENSG00000177427			17920	protein-coding gene	gene with protein product		615498	"""Smith-Magenis syndrome chromosome region, candidate 7"""	SMCR7		11997338, 21508961	Standard	NM_001144900		Approved	MGC23130, MiD49	uc010vxq.2	Q96C03	OTTHUMG00000059392	ENST00000323019.4:c.1065_1067delGCT	17.37:g.18167787_18167789delGCT	ENSP00000323591:p.Leu360del					SMCR7_ENST00000395706.2_In_Frame_Del_p.RL366del|SMCR7_ENST00000395704.4_3'UTR	p.RL355del	NM_001144900.1|NM_139162.3	NP_001138372.1|NP_631901.2	Q96C03	SMCR7_HUMAN			4	1276_1278	+	all_neural(463;0.228)		355					J3KPT3|Q6ZRD4|Q96N07	In_Frame_Del	DEL	ENST00000323019.4	37	c.1065_1067delGCT	CCDS11193.1																																																																																				0.685	MIEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132060.2	NM_139162		9	346						9	346	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354|rs73995411|rs57786397|rs369163670	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr17:56056605_56056607delTGC	ENST00000581208.1	-	5	1084_1086	c.1044_1046delGCA	c.(1042-1047)cagcaa>caa	p.348_349QQ>Q	VEZF1_ENST00000584396.1_In_Frame_Del_p.339_340QQ>Q	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	348	Poly-Gln.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1015-1020)caa>ca		vascular endothelial zinc finger 1																																				SO:0001651	inframe_deletion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056605_56056607delTGC	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1044_1046delGCA	17.37:g.56056614_56056616delTGC	ENSP00000462337:p.Gln354del					VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del	p.QQ343del			Q14119	VEZF1_HUMAN			5	1105_1107	-			352			Poly-Gln.			In_Frame_Del	DEL	ENST00000581208.1	37	c.1017_1019delGCA	CCDS32687.1																																																																																				0.463	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			7	752						7	752	---	---	---	---
RBBP8	5932	broad.mit.edu	37	18	20572852	20572853	+	Frame_Shift_Ins	INS	-	-	A	rs200956310		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr18:20572852_20572853insA	ENST00000399722.2	+	11	1413_1414	c.1062_1063insA	c.(1063-1065)aaafs	p.K355fs	RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.K355fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.K355fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.K355fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	355					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.K357fs*3(2)|p.K355E(2)|p.G354G(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TACAGCCTGGGAAAAAAAAACA	0.361								Homologous recombination																														ENST00000399722.2																			6	Substitution - Missense(2)|Deletion - Frameshift(2)|Substitution - coding silent(2)	p.K357fs*3(2)|p.K355E(2)|p.G354G(2)	ovary(2)|central_nervous_system(2)|endometrium(2)	central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24						c.(1060-1065)ggaaaafs	Homologous recombination	retinoblastoma binding protein 8																																				SO:0001589	frameshift_variant	5932				cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	g.chr18:20572852_20572853insA	AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1071dupA	18.37:g.20572861_20572861dupA	ENSP00000382628:p.Lys355fs					RBBP8_ENST00000399725.2_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000360790.5_Frame_Shift_Ins_p.GK354fs|RBBP8_ENST00000327155.5_Frame_Shift_Ins_p.GK354fs	p.GK354fs	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;0.00196)		11	1413_1414	+	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		354					A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Frame_Shift_Ins	INS	ENST00000399722.2	37	c.1062_1063insA	CCDS11875.1																																																																																				0.361	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446387.1	NM_203291		9	541						9	541	---	---	---	---
YIPF2	78992	broad.mit.edu	37	19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	C19orf52_ENST00000270502.6_5'Flank|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621																																						ENST00000586748.1																			0				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						c.(220-225)ccg>c		Yip1 domain family, member 2																																				SO:0001651	inframe_deletion	78992					integral to membrane|transport vesicle		g.chr19:11038362_11038364delGCT	BC013014	CCDS12251.1	19p13.2	2008-02-05				ENSG00000130733		"""Yip1 domain family"""	28476	protein-coding gene	gene with protein product						12477932	Standard	NM_024029		Approved	MGC3262, FinGER2	uc002mqc.3	Q9BWQ6		ENST00000586748.1:c.221_223delAGC	19.37:g.11038371_11038373delGCT	ENSP00000466055:p.Gln74del					YIPF2_ENST00000253031.2_In_Frame_Del_p.QP74del|YIPF2_ENST00000590329.1_In_Frame_Del_p.QP74del	p.QP74del			Q9BWQ6	YIPF2_HUMAN			4	393_395	-			74						In_Frame_Del	DEL	ENST00000586748.1	37	c.221_223delAGC	CCDS12251.1																																																																																				0.621	YIPF2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453045.1	NM_024029		7	250						7	250	---	---	---	---
ATP4A	495	broad.mit.edu	37	19	36054349	36054351	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:36054349_36054351delCTT	ENST00000262623.3	-	2	119_121	c.91_93delAAG	c.(91-93)aagdel	p.K31del		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	31					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CGCCACCCGCCTTCTTCTTCTTG	0.601																																						ENST00000262623.3																			0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53						c.(91-93)del		ATPase, H+/K+ exchanging, alpha polypeptide	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)																																			SO:0001651	inframe_deletion	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36054349_36054351delCTT		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.91_93delAAG	19.37:g.36054358_36054360delCTT	ENSP00000262623:p.Lys31del						p.K31del	NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		2	119_121	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		31					O00738	In_Frame_Del	DEL	ENST00000262623.3	37	c.91_93delAAG	CCDS12467.1																																																																																				0.601	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2	NM_000704		7	1545						7	1545	---	---	---	---
KMT2B	9757	broad.mit.edu	37	19	36214865	36214866	+	Frame_Shift_Ins	INS	-	-	G	rs34014681	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:36214865_36214866insG	ENST00000222270.7	+	8	3291_3292	c.3291_3292insG	c.(3292-3294)gggfs	p.G1098fs	KMT2B_ENST00000420124.1_Frame_Shift_Ins_p.G1098fs|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1098					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										ACTCGGAGCCCGGGGGCCCCCC	0.574																																						ENST00000222270.7																			0											c.(3289-3294)ccggggfs																																						SO:0001589	frameshift_variant	0							g.chr19:36214865_36214866insG	AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.3296dupG	19.37:g.36214870_36214870dupG	ENSP00000222270:p.Gly1098fs					WBP7_ENST00000420124.1_Frame_Shift_Ins_p.PG1097fs|KMT2B_ENST00000607650.1_RNA	p.PG1097fs	NM_014727.1	NP_055542.1					8	3291_3292	+								O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Frame_Shift_Ins	INS	ENST00000222270.7	37	c.3291_3292insG	CCDS46055.1																																																																																				0.574	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014727		20	249						20	249	---	---	---	---
WDR62	284403	broad.mit.edu	37	19	36583666	36583668	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:36583666_36583668delGCA	ENST00000270301.7	+	19	2286_2288	c.2286_2288delGCA	c.(2284-2289)cggcag>cgg	p.Q766del	WDR62_ENST00000401500.2_In_Frame_Del_p.Q766del			O43379	WDR62_HUMAN	WD repeat domain 62	766					cerebral cortex development (GO:0021987)|neurogenesis (GO:0022008)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle pole (GO:0000922)				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTGACCACCGGCAGCAGCAGCAG	0.616																																						ENST00000401500.2																			0				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43						c.(2284-2289)cgg>cg		WD repeat domain 62																																				SO:0001651	inframe_deletion	284403				cerebral cortex development	nucleus		g.chr19:36583666_36583668delGCA	BX647726	CCDS33001.1, CCDS46059.1	19q13.12	2013-01-09	2005-05-09	2005-05-09	ENSG00000075702	ENSG00000075702		"""WD repeat domain containing"""	24502	protein-coding gene	gene with protein product		613583	"""chromosome 19 open reading frame 14"", ""microcephaly, primary autosomal recessive 2"""	C19orf14, MCPH2		19910486, 20729831, 20890278, 21496009	Standard	NM_001083961		Approved	DKFZP434J046, FLJ33298	uc002odd.2	O43379	OTTHUMG00000048139	ENST00000270301.7:c.2286_2288delGCA	19.37:g.36583675_36583677delGCA	ENSP00000270301:p.Gln766del					WDR62_ENST00000270301.7_In_Frame_Del_p.RQ762del	p.RQ762del	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		19	2321_2323	+	Esophageal squamous(110;0.162)		762					Q63HP9|Q659D7|Q8NBF7|Q96AD9	In_Frame_Del	DEL	ENST00000270301.7	37	c.2286_2288delGCA	CCDS33001.1																																																																																				0.616	WDR62-006	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000457436.1	NM_015671		9	881						9	881	---	---	---	---
SPRED3	399473	broad.mit.edu	37	19	38882864	38882866	+	In_Frame_Del	DEL	CCT	CCT	-	rs151129136		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:38882864_38882866delCCT	ENST00000338502.4	+	3	462_464	c.359_361delCCT	c.(358-363)ccctcc>ccc	p.S128del	SPRED3_ENST00000586301.1_In_Frame_Del_p.S128del|SPRED3_ENST00000587013.1_In_Frame_Del_p.S172del|SPRED3_ENST00000587564.2_3'UTR	NM_001042522.2	NP_001035987.1	Q2MJR0	SPRE3_HUMAN	sprouty-related, EVH1 domain containing 3	128	Ser-rich.				inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)	plasma membrane (GO:0005886)				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TCACTCAccccctcctcctcctc	0.645																																						ENST00000587013.1																			0				central_nervous_system(2)|large_intestine(1)|lung(5)|skin(1)	9						c.(490-495)ccc>c		sprouty-related, EVH1 domain containing 3			,	401,4,3395		26,0,349,0,4,1521					,	3.3	0.9		dbSNP_134	44	1035,11,6892		107,0,821,1,9,3031	no	codingComplex,codingComplex	SPRED3	NM_001042522.1,NM_001039616.1	,	133,0,1170,1,13,4552	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1771,10.6579,12.3616	,	,		1436,15,10287				SO:0001651	inframe_deletion	399473				multicellular organismal development			g.chr19:38882864_38882866delCCT		CCDS42560.1	19q13	2007-10-05				ENSG00000188766			31041	protein-coding gene	gene with protein product		609293				14618415	Standard	NM_001042522		Approved		uc002oim.4	Q2MJR0		ENST00000338502.4:c.359_361delCCT	19.37:g.38882873_38882875delCCT	ENSP00000345405:p.Ser128del					SPRED3_ENST00000587564.2_3'UTR|SPRED3_ENST00000338502.4_In_Frame_Del_p.PS120del|SPRED3_ENST00000586301.1_In_Frame_Del_p.PS120del	p.PS164del			Q2MJR0	SPRE3_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		3	569_571	+	all_cancers(60;3.4e-06)		120					Q2MJR1	In_Frame_Del	DEL	ENST00000338502.4	37	c.491_493delCCT	CCDS42560.1																																																																																				0.645	SPRED3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459216.1	XM_351191		9	140						9	140	---	---	---	---
ERF	2077	broad.mit.edu	37	19	42753149	42753151	+	In_Frame_Del	DEL	GAA	GAA	-	rs199960550		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:42753149_42753151delGAA	ENST00000222329.4	-	4	1270_1272	c.1113_1115delTTC	c.(1111-1116)tcttcc>tcc	p.371_372SS>S	AC006486.9_ENST00000594664.1_Intron|ERF_ENST00000595941.1_5'Flank|ERF_ENST00000440177.2_In_Frame_Del_p.296_297SS>S	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN	Ets2 repressor factor	371	Poly-Ser.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|chorio-allantoic fusion (GO:0060710)|ectodermal cell differentiation (GO:0010668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|trophoblast giant cell differentiation (GO:0060707)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17		Prostate(69;0.00682)				GAATGGGGAGGAAGAAGAAGAAG	0.68																																						ENST00000222329.4																			0				central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	17						c.(1111-1116)tcc>tc		Ets2 repressor factor				95,3823		27,41,1891						-1.6	0.9			39	51,7895		7,37,3929	no	coding	ERF	NM_006494.2		34,78,5820	A1A1,A1R,RR		0.6418,2.4247,1.2306				146,11718				SO:0001651	inframe_deletion	2077				cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:42753149_42753151delGAA	U58535	CCDS12600.1	19q13	2008-07-16				ENSG00000105722			3444	protein-coding gene	gene with protein product	"""Ets2 repressor factor"""	611888				7588608, 9192842	Standard	XM_005258644		Approved	PE-2, PE2	uc002ote.4	P50548		ENST00000222329.4:c.1113_1115delTTC	19.37:g.42753158_42753160delGAA	ENSP00000222329:p.Ser373del					ERF_ENST00000440177.2_In_Frame_Del_p.SS296del|AC006486.9_ENST00000594664.1_Intron	p.SS371del	NM_006494.2	NP_006485.2	P50548	ERF_HUMAN			4	1270_1272	-		Prostate(69;0.00682)	371			Poly-Ser.		B2RAP1|B7Z4R0|Q59G38|Q9UPI7	In_Frame_Del	DEL	ENST00000222329.4	37	c.1113_1115delTTC	CCDS12600.1																																																																																				0.680	ERF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463684.1	NM_006494		9	740						9	740	---	---	---	---
BCL3	602	broad.mit.edu	37	19	45262726	45262726	+	Frame_Shift_Del	DEL	C	C	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:45262726delC	ENST00000164227.5	+	9	1463	c.1219delC	c.(1219-1221)cccfs	p.P408fs		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	408	Pro/Ser-rich.				antimicrobial humoral response (GO:0019730)|cellular response to DNA damage stimulus (GO:0006974)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|extracellular matrix organization (GO:0030198)|follicular dendritic cell differentiation (GO:0002268)|germinal center formation (GO:0002467)|humoral immune response mediated by circulating immunoglobulin (GO:0002455)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-8 biosynthetic process (GO:0045415)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 biosynthetic process (GO:0045082)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|protein import into nucleus, translocation (GO:0000060)|regulation of apoptotic process (GO:0042981)|regulation of DNA binding (GO:0051101)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to UV-C (GO:0010225)|response to virus (GO:0009615)|spleen development (GO:0048536)|T-helper 1 type immune response (GO:0042088)|T-helper 2 cell differentiation (GO:0045064)|transcription, DNA-templated (GO:0006351)	Bcl3-Bcl10 complex (GO:0032996)|Bcl3/NF-kappaB2 complex (GO:0033257)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				CTCCCAGTCTCCCCCCAGGGA	0.627			T	IGH@	CLL																																	ENST00000164227.5				Dom	yes		19	19q13	602	T	B-cell CLL/lymphoma 3			L	IGH@		CLL		0				kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(1219-1221)ccfs		B-cell CLL/lymphoma 3							199.0	212.0	208.0					19																	45262726		2203	4300	6503	SO:0001589	frameshift_variant	602				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding	g.chr19:45262726delC	M31732	CCDS12642.2	19q13.1-q13.2	2013-01-10			ENSG00000069399	ENSG00000069399		"""Ankyrin repeat domain containing"""	998	protein-coding gene	gene with protein product	"""B-cell lymphoma 3-encoded protein"", ""B-cell leukemia/lymphoma 3"", ""chronic lymphatic leukemia protein"""	109560		D19S37, BCL4		1501714, 2180580	Standard	NM_005178		Approved		uc010xxe.2	P20749	OTTHUMG00000151517	ENST00000164227.5:c.1219delC	19.37:g.45262726delC	ENSP00000164227:p.Pro408fs						p.P408fs	NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN			9	1463	+	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)	408			Pro/Ser-rich.			Frame_Shift_Del	DEL	ENST00000164227.5	37	c.1219delC	CCDS12642.2																																																																																				0.627	BCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322976.1	NM_005178		7	2227						7	2227	---	---	---	---
PVRL2	5819	broad.mit.edu	37	19	45381749	45381751	+	Intron	DEL	GAG	GAG	-	rs558397688	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:45381749_45381751delGAG	ENST00000252483.5	+	6	1042				PVRL2_ENST00000252485.4_In_Frame_Del_p.E445del	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)						acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TGGCAaggatgaggaggaggagg	0.591														41	0.0081869	0.0197	0.0014	5008	,	,		15541	0.003		0.003	False		,,,				2504	0.0082					ENST00000252485.4																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1312-1314)del		poliovirus receptor-related 2 (herpesvirus entry mediator B)			,	121,4143		6,109,2017					,	-4.6	0.1			51	244,8010		12,220,3895	no	coding,intron	PVRL2	NM_002856.2,NM_001042724.1	,	18,329,5912	A1A1,A1R,RR		2.9561,2.8377,2.9158	,	,		365,12153				SO:0001627	intron_variant	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45381749_45381751delGAG	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1043-3717GAG>-	19.37:g.45381758_45381760delGAG						PVRL2_ENST00000252483.5_Intron	p.E445del	NM_002856.2	NP_002847.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	6	1663_1665	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	504					A8K5L5|O75455|Q6IBI6|Q96J29	In_Frame_Del	DEL	ENST00000252483.5	37	c.1312_1314delGAG	CCDS42576.1																																																																																				0.591	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		12	126						12	126	---	---	---	---
ZC3H4	23211	broad.mit.edu	37	19	47572401	47572403	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:47572401_47572403delCTC	ENST00000253048.5	-	14	2381_2383	c.2344_2346delGAG	c.(2344-2346)gagdel	p.E782del	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	782							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TCCTCGCTCTCTCCTCCTCCTCC	0.7																																						ENST00000253048.5																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41						c.(2344-2346)del		zinc finger CCCH-type containing 4																																				SO:0001651	inframe_deletion	23211						nucleic acid binding|zinc ion binding	g.chr19:47572401_47572403delCTC	AB028987	CCDS42582.1	19q13.33	2012-07-05	2007-10-18	2007-10-18		ENSG00000130749		"""Zinc fingers, CCCH-type domain containing"""	17808	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 7"""	C19orf7			Standard	NM_015168		Approved	KIAA1064	uc002pga.4	Q9UPT8		ENST00000253048.5:c.2344_2346delGAG	19.37:g.47572410_47572412delCTC	ENSP00000253048:p.Glu782del					ZC3H4_ENST00000594019.1_Intron	p.E782del	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)	14	2381_2383	-		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)	782					Q9Y420	In_Frame_Del	DEL	ENST00000253048.5	37	c.2344_2346delGAG	CCDS42582.1																																																																																				0.700	ZC3H4-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466667.1			7	797						7	797	---	---	---	---
TMC4	147798	broad.mit.edu	37	19	54675747	54675749	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr19:54675747_54675749delTCC	ENST00000376591.4	-	2	332_334	c.201_203delGGA	c.(199-204)gaggat>gat	p.E67del	TMC4_ENST00000301187.4_In_Frame_Del_p.E61del|TMC4_ENST00000476013.2_5'Flank	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	67	Poly-Glu.				ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CCTTCCTCCATCCTCCTCCTCCT	0.645																																						ENST00000376591.4																			0				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22						c.(199-204)gat>ga		transmembrane channel-like 4			,	38,3,4223		14,0,10,0,3,2105					,	-8.3	0.0			104	37,2,8215		15,0,7,0,2,4103	no	codingComplex,codingComplex	TMC4	NM_144686.2,NM_001145303.1	,	29,0,17,0,5,6208	A1A1,A1A2,A1R,A2A2,A2R,RR		0.4725,0.9615,0.6391	,	,		75,5,12438				SO:0001651	inframe_deletion	147798					integral to membrane		g.chr19:54675747_54675749delTCC	AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.201_203delGGA	19.37:g.54675756_54675758delTCC	ENSP00000365776:p.Glu67del					TMC4_ENST00000301187.4_In_Frame_Del_p.ED61del	p.ED67del	NM_001145303.1|NM_144686.2	NP_001138775.1|NP_653287.1	Q7Z404	TMC4_HUMAN			2	332_334	-	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)		67			Poly-Glu.		Q7Z5M3|Q8N5E4|Q8TBS7	In_Frame_Del	DEL	ENST00000376591.4	37	c.201_203delGGA	CCDS46174.1																																																																																				0.645	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000156164.2			13	545						13	545	---	---	---	---
HNF4A	3172	broad.mit.edu	37	20	43052773	43052775	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:43052773_43052775delGCT	ENST00000316099.4	+	8	1097_1099	c.1008_1010delGCT	c.(1006-1011)gagctg>gag	p.L341del	HNF4A_ENST00000457232.1_In_Frame_Del_p.L319del|HNF4A_ENST00000609795.1_In_Frame_Del_p.L319del|AL132772.1_ENST00000581483.1_RNA|HNF4A_ENST00000443598.2_In_Frame_Del_p.L341del|HNF4A_ENST00000316673.4_In_Frame_Del_p.L319del|HNF4A_ENST00000415691.2_In_Frame_Del_p.L341del	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha	341					blood coagulation (GO:0007596)|endocrine pancreas development (GO:0031018)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|lipid homeostasis (GO:0055088)|lipid metabolic process (GO:0006629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|ornithine metabolic process (GO:0006591)|phospholipid homeostasis (GO:0055091)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gastrulation (GO:0010470)|regulation of growth hormone receptor signaling pathway (GO:0060398)|regulation of insulin secretion (GO:0050796)|regulation of lipid metabolic process (GO:0019216)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to glucose (GO:0009749)|sex differentiation (GO:0007548)|signal transduction involved in regulation of gene expression (GO:0023019)|SMAD protein signal transduction (GO:0060395)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|fatty acid binding (GO:0005504)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCTTTGGAGAGCTGCTGCTGCTG	0.576																																					Colon(79;2 1269 8820 14841 52347)	ENST00000316099.3																			0				endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34						c.(1006-1011)gag>ga		hepatocyte nuclear factor 4, alpha																																				SO:0001651	inframe_deletion	3172				blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr20:43052773_43052775delGCT	X76930	CCDS13330.1, CCDS13331.1, CCDS42876.1, CCDS46604.1, CCDS46605.1, CCDS68131.1, CCDS74728.1	20q13.12	2014-09-17			ENSG00000101076	ENSG00000101076		"""Nuclear hormone receptors"""	5024	protein-coding gene	gene with protein product		600281		TCF14, MODY, MODY1		7926813, 9048927	Standard	NM_001030003		Approved	NR2A1, HNF4	uc010zwo.1	P41235	OTTHUMG00000032531	ENST00000316099.4:c.1008_1010delGCT	20.37:g.43052782_43052784delGCT	ENSP00000312987:p.Leu341del					HNF4A_ENST00000443598.2_In_Frame_Del_p.EL336del|HNF4A_ENST00000415691.1_In_Frame_Del_p.EL336del|HNF4A_ENST00000457232.1_In_Frame_Del_p.EL314del	p.EL336del	NM_000457.4|NM_001258355.1	NP_000448.3|NP_001245284.1	P41235	HNF4A_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		8	1097_1099	+		Myeloproliferative disorder(115;0.0122)	336					A5JW41|B2RPP8|O00659|O00723|Q14540|Q5QPB8|Q6B4V5|Q6B4V6|Q6B4V7|Q92653|Q92654|Q92655|Q99864|Q9NQH0	In_Frame_Del	DEL	ENST00000316099.4	37	c.1008_1010delGCT	CCDS13330.1																																																																																				0.576	HNF4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079363.3			7	161						7	161	---	---	---	---
ZNF334	55713	broad.mit.edu	37	20	45130985	45130985	+	Frame_Shift_Del	DEL	A	A	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:45130985delA	ENST00000347606.4	-	5	1175	c.993delT	c.(991-993)tttfs	p.F331fs	ZNF334_ENST00000457685.2_Frame_Shift_Del_p.F293fs|ZNF334_ENST00000593880.1_Frame_Shift_Del_p.F354fs	NM_018102.4	NP_060572.3	Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	331					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTGACTTCCGAAAAAAGGTCT	0.438																																						ENST00000457685.2																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32						c.(877-879)ttfs		zinc finger protein 334							121.0	125.0	123.0					20																	45130985		2201	4300	6501	SO:0001589	frameshift_variant	55713				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:45130985delA	AK001331	CCDS33480.1, CCDS74736.1	20q13.12	2013-09-20			ENSG00000198185	ENSG00000198185		"""Zinc fingers, C2H2-type"", ""-"""	15806	protein-coding gene	gene with protein product							Standard	NM_018102		Approved	bA179N14.1	uc002xsc.4	Q9HCZ1	OTTHUMG00000032654	ENST00000347606.4:c.993delT	20.37:g.45130985delA	ENSP00000255129:p.Phe331fs					ZNF334_ENST00000347606.4_Frame_Shift_Del_p.F331fs|ZNF334_ENST00000593880.1_Frame_Shift_Del_p.F354fs	p.F293fs			Q9HCZ1	ZN334_HUMAN			6	2202	-		Myeloproliferative disorder(115;0.0122)	331					Q5T6U2|Q9NVW4	Frame_Shift_Del	DEL	ENST00000347606.4	37	c.879delT	CCDS33480.1																																																																																				0.438	ZNF334-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079575.1			7	931						7	931	---	---	---	---
RP5-843L14.1	0	broad.mit.edu	37	20	55162531	55162533	+	lincRNA	DEL	AGG	AGG	-	rs55743303|rs200677250	byFrequency	TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:55162531_55162533delAGG	ENST00000434176.1	+	0	557																											ggggaggattaggaggaggagga	0.483														324	0.0646965	0.0174	0.0994	5008	,	,		24524	0.003		0.1571	False		,,,				2504	0.0726					ENST00000434176.1																			0																																																			0							g.chr20:55162531_55162533delAGG																													20.37:g.55162540_55162542delAGG														0	557	+									RNA	DEL	ENST00000434176.1	37																																																																																						0.483	RP5-843L14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000259432.1			3	3						3	3	---	---	---	---
MYT1	4661	broad.mit.edu	37	20	62848481	62848482	+	Frame_Shift_Ins	INS	-	-	C			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr20:62848481_62848482insC	ENST00000328439.1	+	11	2057_2058	c.1693_1694insC	c.(1693-1695)gccfs	p.A565fs	MYT1_ENST00000536311.1_Frame_Shift_Ins_p.A565fs|MYT1_ENST00000360149.4_Frame_Shift_Ins_p.A267fs	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					GCCCAACGTGGCCCCCGCCACA	0.594																																					GBM(59;481 1041 20555 21139 33705)	ENST00000536311.1																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(1693-1695)cccfs		myelin transcription factor 1																																				SO:0001589	frameshift_variant	4661				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:62848481_62848482insC	M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.1698dupC	20.37:g.62848486_62848486dupC	ENSP00000327465:p.Ala565fs					MYT1_ENST00000360149.4_Frame_Shift_Ins_p.P267fs|MYT1_ENST00000328439.1_Frame_Shift_Ins_p.P565fs	p.P565fs			Q01538	MYT1_HUMAN			11	2057_2058	+	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)		565					B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Frame_Shift_Ins	INS	ENST00000328439.1	37	c.1693_1694insC	CCDS13558.1																																																																																				0.594	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080297.1	NM_004535		7	924						7	924	---	---	---	---
BAGE2	85319	broad.mit.edu	37	21	11049306	11049307	+	RNA	INS	-	-	T	rs57143135		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:11049306_11049307insT	ENST00000470054.1	-	0	659							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATATCCAGTAATTTTTTTAAGT	0.272																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11049306_11049307insT	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11049313_11049313dupT												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	659	-								A8K925|Q08ER0	RNA	INS	ENST00000470054.1	37																																																																																						0.272	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		15	197						15	197	---	---	---	---
ANKRD20A18P	391269	broad.mit.edu	37	21	15441192	15441193	+	RNA	INS	-	-	T	rs148464975		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:15441192_15441193insT	ENST00000428809.1	+	0	177				AP001347.6_ENST00000448463.1_RNA|RNA5SP488_ENST00000364942.1_RNA|AP001347.6_ENST00000432621.1_RNA																							TGTATTTTGAATTCTTGGAATT	0.361																																						ENST00000428809.1																			0																																																			0							g.chr21:15441192_15441193insT																													21.37:g.15441194_15441194dupT														0	177	+									RNA	INS	ENST00000428809.1	37																																																																																						0.361	AP001347.6-001	KNOWN	basic	antisense	antisense	OTTHUMT00000157812.1			8	366						8	366	---	---	---	---
PTTG1IP	754	broad.mit.edu	37	21	46276194	46276196	+	In_Frame_Del	DEL	GCA	GCA	-	rs375347383		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr21:46276194_46276196delGCA	ENST00000330938.3	-	4	581_583	c.361_363delTGC	c.(361-363)tgcdel	p.C121del	PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397887.3_Intron	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN	pituitary tumor-transforming 1 interacting protein	121	Poly-Cys.				multicellular organismal development (GO:0007275)|protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)			ovary(1)|prostate(1)	2				Colorectal(79;0.0659)		TCTTCCTCCTGCAGCAGCAGCAG	0.616																																						ENST00000330938.3																			0				ovary(1)|prostate(1)	2						c.(361-363)del		pituitary tumor-transforming 1 interacting protein																																				SO:0001651	inframe_deletion	754				protein import into nucleus	cytoplasm|integral to membrane|nucleus		g.chr21:46276194_46276196delGCA	AF149785	CCDS13715.1, CCDS68221.1	21q22.3	2008-07-04			ENSG00000183255	ENSG00000183255			13524	protein-coding gene	gene with protein product		603784		C21orf3, C21orf1		9570958, 10830953	Standard	NM_004339		Approved	PBF	uc002zgb.2	P53801	OTTHUMG00000090254	ENST00000330938.3:c.361_363delTGC	21.37:g.46276203_46276205delGCA	ENSP00000328325:p.Cys121del					PTTG1IP_ENST00000445724.2_Intron|PTTG1IP_ENST00000397886.3_In_Frame_Del_p.C100del|PTTG1IP_ENST00000494690.1_5'UTR|PTTG1IP_ENST00000397887.3_Intron	p.C121del	NM_004339.3	NP_004330.1	P53801	PTTG_HUMAN		Colorectal(79;0.0659)	4	581_583	-			121			Poly-Cys.		B2RDP7|D3DSL9|Q9NS09	In_Frame_Del	DEL	ENST00000330938.3	37	c.361_363delTGC	CCDS13715.1																																																																																				0.616	PTTG1IP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206553.1			7	287						7	287	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610573	42610575	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chr22:42610573_42610575delAGG	ENST00000359486.3	-	1	873_875	c.737_739delCCT	c.(736-741)tccttc>ttc	p.S246del	TCF20_ENST00000335626.4_In_Frame_Del_p.S246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	246	Ser-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGAAGGGAaggaggaggagga	0.507																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(736-741)ttc>t		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610573_42610575delAGG	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.737_739delCCT	22.37:g.42610582_42610584delAGG	ENSP00000352463:p.Ser246del					TCF20_ENST00000335626.4_In_Frame_Del_p.SF246del	p.SF246del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	873_875	-			246			Ser-rich.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.737_739delCCT	CCDS14033.1																																																																																				0.507	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		7	353						7	353	---	---	---	---
NAP1L2	4674	broad.mit.edu	37	X	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-	rs369450592		TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly (GO:0006334)|positive regulation of histone H3-K14 acetylation (GO:0071442)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of neuron differentiation (GO:0045666)|regulation of stem cell division (GO:2000035)	nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424														95	0.0251656	0.0272	0.0173	3775	,	,		14422	0.0069		0.0089	False		,,,				2504	0.0317					ENST00000373517.3																			0				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29						c.(661-666)gac>ga		nucleosome assembly protein 1-like 2																																				SO:0001651	inframe_deletion	4674				nucleosome assembly	chromatin assembly complex		g.chrX:72433664_72433666delTCC	AF136178	CCDS14423.1	Xq13	2008-02-05			ENSG00000186462	ENSG00000186462			7638	protein-coding gene	gene with protein product		300026				8789438	Standard	NM_021963		Approved	BPX, MGC26243	uc004ebi.3	Q9ULW6	OTTHUMG00000021827	ENST00000373517.3:c.663_665delGGA	X.37:g.72433673_72433675delTCC	ENSP00000362616:p.Glu221del					NAP1L2_ENST00000536638.1_In_Frame_Del_p.ED79del	p.ED221del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN			1	1018_1020	-	Renal(35;0.156)		221			Glu-rich (acidic).		B2RE61|B4E161|Q8TAN6	In_Frame_Del	DEL	ENST00000373517.3	37	c.663_665delGGA	CCDS14423.1																																																																																				0.424	NAP1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057225.1	NM_021963		9	94						9	94	---	---	---	---
MAMLD1	10046	broad.mit.edu	37	X	149639633	149639635	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:149639633_149639635delGCA	ENST00000370401.2	+	4	2098_2100	c.1788_1790delGCA	c.(1786-1791)ctgcag>ctg	p.Q606del	MAMLD1_ENST00000426613.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.Q581del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.Q87del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.Q606del			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	606	Poly-Gln.				male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTgcagctgcagcagcagcag	0.611																																						ENST00000370401.2																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37						c.(1786-1791)ctg>ct		mastermind-like domain containing 1																																				SO:0001651	inframe_deletion	10046				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chrX:149639633_149639635delGCA	U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1788_1790delGCA	X.37:g.149639642_149639644delGCA	ENSP00000359428:p.Gln606del					MAMLD1_ENST00000426613.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000432680.2_In_Frame_Del_p.LQ571del|MAMLD1_ENST00000262858.5_In_Frame_Del_p.LQ596del|MAMLD1_ENST00000455522.2_In_Frame_Del_p.LQ77del	p.LQ596del			Q13495	MAMD1_HUMAN			4	2098_2100	+	Acute lymphoblastic leukemia(192;6.56e-05)		596			Poly-Gln.		B2RCQ4|B4DG93|B9EGA5	In_Frame_Del	DEL	ENST00000370401.2	37	c.1788_1790delGCA	CCDS14693.2																																																																																				0.611	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491		14	515						14	515	---	---	---	---
CD99L2	83692	broad.mit.edu	37	X	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion (GO:0007155)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552																																						ENST00000370377.3																			0				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23						c.(154-159)aca>ac		CD99 molecule-like 2																																				SO:0001651	inframe_deletion	83692				cell adhesion	cell junction|integral to membrane		g.chrX:149984524_149984526delGTG	BC030536	CCDS14697.1, CCDS14698.1, CCDS35427.1, CCDS55527.1, CCDS76044.1	Xq28	2007-12-04	2006-03-28	2003-02-14	ENSG00000102181	ENSG00000102181			18237	protein-coding gene	gene with protein product		300846	"""MIC2 like 1"", ""CD99 antigen-like 2"""	MIC2L1			Standard	NM_001184808		Approved	CD99B	uc004fek.3	Q8TCZ2	OTTHUMG00000024247	ENST00000370377.3:c.156_158delCAC	X.37:g.149984533_149984535delGTG	ENSP00000359403:p.Thr54del					CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.TT52del	p.TT52del	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN			3	273_275	-	Acute lymphoblastic leukemia(192;6.56e-05)		52			Poly-Thr.		A8K2D5|A8K5R0|B3KWG2|B4DDL7|E7EMK5|E9PD27|Q8TAW2|Q8TCZ0|Q8TCZ1|Q9BQG9	In_Frame_Del	DEL	ENST00000370377.3	37	c.156_158delCAC	CCDS35427.1																																																																																				0.552	CD99L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000061199.1	NM_031462		9	940						9	940	---	---	---	---
RP13-228J13.1	0	broad.mit.edu	37	X	154578866	154578866	+	RNA	DEL	T	T	-			TCGA-2J-AAB6-01A-11D-A40W-08	TCGA-2J-AAB6-10A-01D-A40W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	095c6a38-144a-466c-8d4f-f8a49a0f4741	d7a2fe3d-4d0f-468c-ae43-8c6ae58b2b7b	g.chrX:154578866delT	ENST00000412436.1	-	0	98				RP13-228J13.1_ENST00000444722.1_RNA|RP13-228J13.5_ENST00000453508.1_RNA																							TTTCTCTCTGTTTTTTTTTTT	0.418														73	0.0193377	0.0121	0.0086	3775	,	,		10483	0.0139		0.0149	False		,,,				2504	0.0225					ENST00000412436.1																			0																																																			0							g.chrX:154578866delT																													X.37:g.154578866delT						RP13-228J13.1_ENST00000444722.1_RNA|RP13-228J13.5_ENST00000453508.1_RNA								0	98	-									RNA	DEL	ENST00000412436.1	37																																																																																						0.418	RP13-228J13.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000058799.1			19	112						19	112	---	---	---	---
