#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_IsAdjacentToRepeatRegion	i_IsMicroSat	i_MUTSIG_Published_Results	i_Mutation_Status	i_NumberOfSatRepeats	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_is_in_m2pon	i_refseq_mrna_id	i_secondary_variant_classification	i_site
OR52D1	390066	broad.mit.edu	37	11	5510540	5510541	+	Frame_Shift_Ins	INS	-	-	GGCT	rs146317894|rs576495879|rs190320444|rs36066208|rs377247106	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr11:5510540_5510541insGGCT	ENST00000322641.5	+	1	626_627	c.604_605insGGCT	c.(604-606)gggfs	p.-203fs	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1						detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTGTCTATGGGCTAACTGTG	0.49														471	0.0940495	0.0212	0.1715	5008	,	,		23752	0.0754		0.1779	False		,,,				2504	0.0706					ENST00000322641.5		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(604-606)gggfs		olfactory receptor, family 52, subfamily D, member 1				221,4041		4,213,1914						5.5	1.0		dbSNP_130	269	1217,7035		95,1027,3004	no	frameshift	OR52D1	NM_001005163.2		99,1240,4918	A1A1,A1R,RR		14.7479,5.1854,11.4911				1438,11076				SO:0001589	frameshift_variant	390066				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5510540_5510541insGGCT	BK004276	CCDS31384.1	11p15.4	2012-08-09			ENSG00000181609	ENSG00000181609		"""GPCR / Class A : Olfactory receptors"""	15212	protein-coding gene	gene with protein product							Standard	NM_001005163		Approved		uc010qzg.2	Q9H346	OTTHUMG00000066895	ENST00000322641.5:c.605_608dupGGCT	11.37:g.5510541_5510544dupGGCT	ENSP00000326232:p.Leu203fs	True	False		Somatic	1				HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA	p.-203fs	NM_001005163.2	NP_001005163.1	WXS	Illumina HiSeq	Phase_I	Q9H346	O52D1_HUMAN		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	626_627	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	NA					B9EGY9|Q6IFI6	Frame_Shift_Ins	INS	ENST00000322641.5	37	c.604_605insGGCT	CCDS31384.1																																																																																				0.490	OR52D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143372.1	0	NM_001005163		11:5510540
RBM4	5936	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000409406.1	+	2	1633_1653	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000412278.2_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM14-RBM4_ENST00000500635.2_Intron			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4	286	Interaction with TNPO3.|Poly-Ala.				cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615																																						ENST00000412278.2		NA																	0					NA						c.(781-801)gctgctgctgcagcagcagccdel																																						SO:0001651	inframe_deletion	0							g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.856_876delGCTGCTGCTGCAGCAGCAGCC	11.37:g.66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENSP00000386894:p.Ala286_Ala292del	True	False		Somatic	1				RBM4_ENST00000398692.4_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del	p.AAAAAAA261del	NM_001198845.1	NP_001185774.1	WXS	Illumina HiSeq	Phase_I					2	876_896	+			NA					B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	In_Frame_Del	DEL	ENST00000409406.1	37	c.781_801delGCTGCTGCTGCAGCAGCAGCC	CCDS41676.1																																																																																				0.615	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	0	NM_002896		11:66411364
SIK3	23387	broad.mit.edu	37	11	116729011	116729013	+	In_Frame_Del	DEL	TGT	TGT	-	rs539858|rs537893827	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	TGT	TGT	-	-	TGT	TGT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr11:116729011_116729013delTGT	ENST00000292055.4	-	20	2885_2887	c.2850_2852delACA	c.(2848-2853)caacag>cag	p.950_951QQ>Q	SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000446921.2_In_Frame_Del_p.948_949QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|AP006216.12_ENST00000444200.1_RNA	NM_025164.3	NP_079440.3	Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	950	Gln-rich.				protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ctgttgctgctgttgctgctgct	0.596														5	0.000998403	0.003	0.0	5008	,	,		18493	0.0		0.0	False		,,,				2504	0.001					ENST00000446921.2		NA																	0				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						c.(2842-2847)caacag>cag		SIK family kinase 3																																				SO:0001651	inframe_deletion	23387					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	g.chr11:116729011_116729013delTGT	AB023216	CCDS8379.1, CCDS60974.1, CCDS8379.2	11q23.3	2010-02-17			ENSG00000160584	ENSG00000160584			29165	protein-coding gene	gene with protein product		614776				10231032, 8889548	Standard	NM_025164		Approved	FLJ12240, L19, KIAA0999, QSK	uc001ppy.3	Q9Y2K2	OTTHUMG00000066628	ENST00000292055.4:c.2850_2852delACA	11.37:g.116729011_116729013delTGT	ENSP00000292055:p.Gln955del	True	False		Somatic	1				SIK3_ENST00000542607.1_In_Frame_Del_p.890_891QQ>Q|SIK3_ENST00000434315.2_In_Frame_Del_p.789_790QQ>Q|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_In_Frame_Del_p.285_286QQ>Q|SIK3_ENST00000375300.1_In_Frame_Del_p.1008_1009QQ>Q|SIK3_ENST00000292055.4_In_Frame_Del_p.950_951QQ>Q	p.948_949QQ>Q			WXS	Illumina HiSeq	Phase_I	Q9Y2K2	SIK3_HUMAN			20	2865_2867	-			950			Gln-rich.		A1A5A8|Q59FY2|Q5M9N1|Q6P3R6|Q8IYM8|Q9HA50	In_Frame_Del	DEL	ENST00000292055.4	37	c.2844_2846delACA	CCDS8379.1																																																																																				0.596	SIK3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		0	NM_025164		11:116729011
LCE2A	353139	broad.mit.edu	37	1	152671515	152671556	+	In_Frame_Del	DEL	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	rs188756601|rs61812671|rs544324398|rs142857579|rs61812672|rs200927371|rs369853646|rs575236034	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	-	-	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENST00000368779.1	+	2	189_230	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc	p.SSGGCCGSSSGGCC47del		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	47	Cys-rich.				keratinization (GO:0031424)			p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)		breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTGGTCCCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTGCAGCTCTGGG	0.661																																						ENST00000368779.1		NA																	3	Deletion - In frame(2)|Substitution - coding silent(1)	p.C51_G64delCCGSSSGGCCSSGG(2)|p.C51C(1)	liver(2)|large_intestine(1)	breast(1)|large_intestine(1)|liver(2)|lung(4)	8						c.(136-180)cccagctctgggggctgctgcggctccagctctgggggctgctgc>ccc		late cornified envelope 2A																																				SO:0001651	inframe_deletion	353139				keratinization			g.chr1:152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG		CCDS1021.1	1q21.3	2008-02-05			ENSG00000187173	ENSG00000187173		"""Late cornified envelopes"""	29469	protein-coding gene	gene with protein product		612609				11698679	Standard	NM_178428		Approved	LEP9	uc001faj.3	Q5TA79	OTTHUMG00000012392	ENST00000368779.1:c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	1.37:g.152671515_152671556delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	ENSP00000357768:p.Ser47_Cys60del	False	False		Somatic	1					p.SSGGCCGSSSGGCC47del	NM_178428.3	NP_848515.1	WXS	Illumina HiSeq	Phase_I	Q5TA79	LCE2A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		2	189_230	+	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		47			Cys-rich.		A4QMZ9	In_Frame_Del	DEL	ENST00000368779.1	37	c.138_179delCAGCTCTGGGGGCTGCTGCGGCTCCAGCTCTGGGGGCTGCTG	CCDS1021.1																																																																																				0.661	LCE2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034512.1	0	NM_178428		1:152671515
SYNE3	161176	broad.mit.edu	37	14	95903308	95903310	+	In_Frame_Del	DEL	AGA	AGA	-	rs76499929|rs201240192	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	AGA	AGA	-	-	AGA	AGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr14:95903308_95903310delAGA	ENST00000334258.5	-	14	2399_2401	c.2385_2387delTCT	c.(2383-2388)cttcta>cta	p.795_796LL>L	SYNE3_ENST00000554873.1_In_Frame_Del_p.552_553LL>L|SYNE3_ENST00000557275.1_Intron	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	795			Missing (in dbSNP:rs76499929). {ECO:0000269|PubMed:15489334}.		cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)	p.L796delL(1)		breast(1)|endometrium(2)|lung(25)	28						TTCTTCCTGTAGAAGATTTGCCT	0.542																																						ENST00000334258.5		NA																	1	Deletion - In frame(1)	p.L796delL(1)	breast(1)	breast(1)|endometrium(2)|lung(25)	28						c.(2383-2388)cttcta>cta		spectrin repeat containing, nuclear envelope family member 3				458,3806		19,420,1693						-1.8	0.0		dbSNP_131	71	906,7348		46,814,3267	no	coding	C14orf49	NM_152592.3		65,1234,4960	A1A1,A1R,RR		10.9765,10.7411,10.8963				1364,11154				SO:0001651	inframe_deletion	161176							g.chr14:95903308_95903310delAGA	AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.2385_2387delTCT	14.37:g.95903311_95903313delAGA	ENSP00000334308:p.Leu796del	False	False		Somatic	2				SYNE3_ENST00000554873.1_In_Frame_Del_p.552_553LL>L|SYNE3_ENST00000557275.1_Intron	p.795_796LL>L	NM_152592.3	NP_689805.3	WXS	Illumina HiSeq	Phase_I					14	2399_2401	-			NA					A6H8H3|Q86SX5|Q8N7G8	In_Frame_Del	DEL	ENST00000334258.5	37	c.2385_2387delTCT	CCDS9935.1																																																																																				0.542	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420529.2	0	NM_152592		14:95903308
TYRO3	7301	broad.mit.edu	37	15	41860561	41860562	+	Splice_Site	INS	-	-	A			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr15:41860561_41860562insA	ENST00000263798.3	+	8	1331		c.e8+1		TYRO3_ENST00000559066.1_Splice_Site	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase						apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TGGAACCCAGGTAAGACAGAAC	0.53																																						ENST00000263798.3		NA																	0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.e8+1		TYRO3 protein tyrosine kinase																																				SO:0001630	splice_region_variant	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41860561_41860562insA	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.1107+1->A	15.37:g.41860561_41860562insA		False	False		Somatic	0				TYRO3_ENST00000559066.1_Splice_Site		NM_006293.3	NP_006284.2	WXS	Illumina HiSeq	Phase_I	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	8	1331	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	NA					O14953|Q86VR3	Splice_Site	INS	ENST00000263798.3	37		CCDS10080.1																																																																																				0.530	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2	0		Intron	15:41860561
ZFHX3	463	broad.mit.edu	37	16	72991713	72991715	+	In_Frame_Del	DEL	CCA	CCA	-	rs4788682	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	CCA	CCA	-	-	CCA	CCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr16:72991713_72991715delCCA	ENST00000268489.5	-	2	3002_3004	c.2330_2332delTGG	c.(2329-2334)gtggct>gct	p.V777del	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	777	Poly-Ala.		V -> A (in dbSNP:rs4788682). {ECO:0000269|PubMed:7592926}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V777V(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gccgccgcagccaccgccgccgc	0.635																																						ENST00000268489.5		NA																	1	Substitution - coding silent(1)	p.V777V(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(2329-2334)gtggct>gct		zinc finger homeobox 3			,	1706,1886		582,542,672					,	5.5	0.1			17	4240,2792		1606,1028,882	no	coding,intron	ZFHX3	NM_006885.3,NM_001164766.1	,	2188,1570,1554	A1A1,A1R,RR		39.7042,47.4944,44.0324	,	,		5946,4678				SO:0001651	inframe_deletion	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72991713_72991715delCCA	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.2330_2332delTGG	16.37:g.72991713_72991715delCCA	ENSP00000268489:p.Val777del	False	False		Somatic	1				ZFHX3_ENST00000397992.5_Intron	p.V777del	NM_006885.3	NP_008816.3	WXS	Illumina HiSeq	Phase_I	Q15911	ZFHX3_HUMAN			2	3002_3004	-		Ovarian(137;0.13)	777		V -> A (in dbSNP:rs4788682).	Poly-Ala.		D3DWS8|O15101|Q13719	In_Frame_Del	DEL	ENST00000268489.5	37	c.2330_2332delTGG	CCDS10908.1																																																																																				0.635	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	0	NM_006885		16:72991713
PKD1L2	114780	broad.mit.edu	37	16	81161473	81161474	+	RNA	INS	-	-	TACTGCCAAGCCTGGGGAAAGC	rs371382430|rs145602984	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr16:81161473_81161474insTACTGCCAAGCCTGGGGAAAGC	ENST00000534142.1	-	0	629_630				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTGGCTCTGGTACTGCCATTA	0.569														1061	0.211861	0.1241	0.1801	5008	,	,		20241	0.376		0.1759	False		,,,				2504	0.2209					ENST00000534142.1		NA																	0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44								polycystic kidney disease 1-like 2				5,474,3453		0,0,5,52,370,1539						1.7	1.0		dbSNP_130	68	14,1018,6948		2,0,10,69,880,3029	no	codingComplex	PKD1L2	NM_052892.3		2,0,15,121,1250,4568	A1A1,A1A2,A1R,A2A2,A2R,RR		12.9323,12.1821,12.6847				19,1492,10401						114780				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding	g.chr16:81161473_81161474insTACTGCCAAGCCTGGGGAAAGC	AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81161473_81161474insTACTGCCAAGCCTGGGGAAAGC		False	False		Somatic	0				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA				WXS	Illumina HiSeq	Phase_I	Q7Z442	PK1L2_HUMAN			0	629_630	-			NA					Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	INS	ENST00000534142.1	37																																																																																						0.569	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1	0			16:81161473
TMEM91	641649	broad.mit.edu	37	19	41888851	41888861	+	Intron	DEL	GGGGACTGGGC	GGGGACTGGGC	-	rs138731997|rs369679620	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GGGGACTGGGC	GGGGACTGGGC	-	-	GGGGACTGGGC	GGGGACTGGGC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr19:41888851_41888861delGGGGACTGGGC	ENST00000392002.2	+	3	1020				TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000356385.4_Intron|TMEM91_ENST00000539627.1_Frame_Shift_Del_p.GDWA129fs|CTC-435M10.3_ENST00000540732.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000542945.1_Frame_Shift_Del_p.GDWA129fs|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000604123.1_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000447302.2_Intron	NM_001098821.1	NP_001092291.1	Q6ZNR0	TMM91_HUMAN	transmembrane protein 91						hematopoietic progenitor cell differentiation (GO:0002244)|response to biotic stimulus (GO:0009607)	integral component of membrane (GO:0016021)				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGACTTGGAGGGGACTGGGCATAAAAGAGA	0.531														414	0.0826677	0.028	0.0793	5008	,	,		20818	0.0466		0.1312	False		,,,				2504	0.1462					ENST00000539627.1		NA																	0				lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						c.(385-396)ggggactgggcafs		transmembrane protein 91			,,,,,	128,3724		3,122,1801					,,,,,	2.4	0.6		dbSNP_134	228	1093,6889		86,921,2984	no	intron,intron,intron,intron,intron,intron	TMEM91	NM_001098825.1,NM_001098824.1,NM_001098823.1,NM_001098822.1,NM_001098821.1,NM_001042595.2	,,,,,	89,1043,4785	A1A1,A1R,RR		13.6933,3.3229,10.3177	,,,,,	,,,,,		1221,10613				SO:0001627	intron_variant	641649							g.chr19:41888851_41888861delGGGGACTGGGC	AK130820, BC063705	CCDS42571.1, CCDS42572.1, CCDS46082.1, CCDS46083.1, CCDS46084.1	19q13.2	2009-10-16							32393	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 6"""					12477932	Standard	NM_001098824		Approved	FLJ27310, IFITMD6		Q6ZNR0		ENST00000392002.2:c.360+25GGGGACTGGGC>-	19.37:g.41888851_41888861delGGGGACTGGGC		False	False		Somatic	1				TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000392002.2_Intron|TMEM91_ENST00000447302.2_Intron|TMEM91_ENST00000542945.1_Frame_Shift_Del_p.GDWA129fs|TMEM91_ENST00000413014.2_Intron|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000356385.4_Intron|BCKDHA_ENST00000595085.1_Intron|TMEM91_ENST00000604123.1_Intron|CTC-435M10.3_ENST00000540732.1_Intron	p.GDWA129fs			WXS	Illumina HiSeq	Phase_I					3	706_716	+			NA					C9J9D1|C9JZ62|C9K046|Q6P434	Frame_Shift_Del	DEL	ENST00000392002.2	37	c.385_395delGGGGACTGGGC	CCDS42571.1																																																																																				0.531	TMEM91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398302.2	0			19:41888851
KCNA7	3743	broad.mit.edu	37	19	49573363	49573365	+	In_Frame_Del	DEL	GGA	GGA	-	rs10535426|rs12975537|rs375428032	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GGA	GGA	-	-	GGA	GGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr19:49573363_49573365delGGA	ENST00000221444.1	-	2	1681_1683	c.1326_1328delTCC	c.(1324-1329)cctcca>cca	p.442_443PP>P		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	442					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	Dalfampridine(DB06637)	TGCCCAGAGTGGAGGTGGTAGCT	0.631														725	0.144768	0.2988	0.1398	5008	,	,		15138	0.0486		0.0875	False		,,,				2504	0.0982				Colon(74;686 1235 3793 23366 48562)	ENST00000221444.1		NA																	0				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11						c.(1324-1329)cctcca>cca		potassium voltage-gated channel, shaker-related subfamily, member 7				1096,3166		123,850,1158						-0.9	0.9		dbSNP_107	73	770,7484		38,694,3395	no	coding	KCNA7	NM_031886.2		161,1544,4553	A1A1,A1R,RR		9.3288,25.7156,14.9089				1866,10650				SO:0001651	inframe_deletion	3743					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr19:49573363_49573365delGGA	AF315818	CCDS12755.1	19q13.3	2012-07-05				ENSG00000104848		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6226	protein-coding gene	gene with protein product		176268				16382104	Standard	NM_031886		Approved	Kv1.7, HAK6	uc002pmg.3	Q96RP8		ENST00000221444.1:c.1326_1328delTCC	19.37:g.49573363_49573365delGGA	ENSP00000221444:p.Pro443del	False	False		Somatic	1					p.442_443PP>P	NM_031886.2	NP_114092.2	WXS	Illumina HiSeq	Phase_I	Q96RP8	KCNA7_HUMAN		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)	2	1681_1683	-		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)	442					A1KYX7|Q9BYS4	In_Frame_Del	DEL	ENST00000221444.1	37	c.1326_1328delTCC	CCDS12755.1																																																																																				0.631	KCNA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466263.1	0	NM_031886		19:49573363
YBEY	54059	broad.mit.edu	37	21	47706981	47706982	+	In_Frame_Ins	INS	-	-	ATGTTTGCAACG			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr21:47706981_47706982insATGTTTGCAACG	ENST00000329319.3	+	2	552_553	c.154_155insATGTTTGCAACG	c.(154-156)aga>aATGTTTGCAACGga	p.52_52R>NVCNG	MCM3AP_ENST00000397708.1_5'Flank|MCM3AP_ENST00000291688.1_5'Flank|YBEY_ENST00000397692.1_Intron|YBEY_ENST00000339195.6_In_Frame_Ins_p.52_52R>NVCNG|YBEY_ENST00000397691.1_In_Frame_Ins_p.52_52R>NVCNG|YBEY_ENST00000397694.1_Intron|YBEY_ENST00000397701.4_In_Frame_Ins_p.52_52R>NVCNG	NM_058181.1	NP_478061.1	P58557	YBEY_HUMAN	ybeY metallopeptidase (putative)	52					rRNA processing (GO:0006364)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)	p.R52R(1)		endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						GCACATTAATAGAATCTACAGA	0.386																																						ENST00000329319.3		NA																	1	Substitution - coding silent(1)	p.R52R(1)	large_intestine(1)	endometrium(2)|large_intestine(1)|lung(4)|ovary(2)	9						c.(154-156)aga>aATGTTTGCAACGga		ybeY metallopeptidase (putative)																																				SO:0001652	inframe_insertion	54059						metal ion binding|metalloendopeptidase activity	g.chr21:47706981_47706982insATGTTTGCAACG	AK294975	CCDS33591.1	21q22.3	2010-12-08	2010-12-08	2010-12-08	ENSG00000182362	ENSG00000182362			1299	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 57"""	C21orf57			Standard	XM_005261155		Approved		uc002ziv.3	P58557	OTTHUMG00000090632	Exception_encountered	21.37:g.47706981_47706982insATGTTTGCAACG	ENSP00000329614:p.Arg52delinsAsnValCysAsnGly	False	False		Somatic	0				YBEY_ENST00000397692.1_Intron|YBEY_ENST00000397691.1_In_Frame_Ins_p.52_52R>NVCNG|YBEY_ENST00000397694.1_Intron|YBEY_ENST00000397701.4_In_Frame_Ins_p.52_52R>NVCNG|YBEY_ENST00000339195.6_In_Frame_Ins_p.52_52R>NVCNG	p.52_52R>NVCNG	NM_058181.1	NP_478061.1	WXS	Illumina HiSeq	Phase_I	P58557	YBEY_HUMAN			2	552_553	+			52					B7WPA9|B7WPF7|D3DSN2	In_Frame_Ins	INS	ENST00000329319.3	37	c.154_155insATGTTTGCAACG	CCDS33591.1																																																																																				0.386	YBEY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207265.1	0	NM_058181		21:47706981
PCNT	5116	broad.mit.edu	37	21	47819624	47819625	+	Frame_Shift_Ins	INS	-	-	AATACAAT			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr21:47819624_47819625insAATACAAT	ENST00000359568.5	+	25	4812_4813	c.4705_4706insAATACAAT	c.(4705-4707)gagfs	p.-1569fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin						brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACGTCTGGAGGAGATGAACATC	0.411																																						ENST00000359568.5		NA																	0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(4705-4707)gagfs		pericentrin																																				SO:0001589	frameshift_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47819624_47819625insAATACAAT	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	Exception_encountered	21.37:g.47819624_47819625insAATACAAT	ENSP00000352572:p.Glu1569fs	False	False		Somatic	0				PCNT_ENST00000480896.1_3'UTR	p.-1569fs	NM_006031.5	NP_006022.3	WXS	Illumina HiSeq	Phase_I	O95613	PCNT_HUMAN			25	4812_4813	+	Breast(49;0.112)		NA					O43152|Q7Z7C9	Frame_Shift_Ins	INS	ENST00000359568.5	37	c.4705_4706insAATACAAT	CCDS33592.1																																																																																				0.411	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	0	NM_006031		21:47819624
PCNT	5116	broad.mit.edu	37	21	47819626	47819627	+	Frame_Shift_Ins	INS	-	-	AATGTTTT			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr21:47819626_47819627insAATGTTTT	ENST00000359568.5	+	25	4814_4815	c.4707_4708insAATGTTTT	c.(4708-4710)atgfs	p.M1570fs	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1570					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTCTGGAGGAGATGAACATCAA	0.411																																						ENST00000359568.5		NA																	0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104						c.(4708-4710)atgfs		pericentrin																																				SO:0001589	frameshift_variant	5116				cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding	g.chr21:47819626_47819627insAATGTTTT	AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	Exception_encountered	21.37:g.47819626_47819627insAATGTTTT	ENSP00000352572:p.Met1570fs	False	False		Somatic	0				PCNT_ENST00000480896.1_3'UTR	p.M1570fs	NM_006031.5	NP_006022.3	WXS	Illumina HiSeq	Phase_I	O95613	PCNT_HUMAN			25	4814_4815	+	Breast(49;0.112)		1570					O43152|Q7Z7C9	Frame_Shift_Ins	INS	ENST00000359568.5	37	c.4707_4708insAATGTTTT	CCDS33592.1																																																																																				0.411	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	0	NM_006031		21:47819626
SLC5A7	60482	broad.mit.edu	37	2	108627182	108627183	+	Frame_Shift_Ins	INS	-	-	TTCTG			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:108627182_108627183insTTCTG	ENST00000264047.2	+	9	1884_1885	c.1608_1609insTTCTG	c.(1609-1611)attfs	p.I537fs	SLC5A7_ENST00000540517.1_Frame_Shift_Ins_p.I432fs|SLC5A7_ENST00000409059.1_Frame_Shift_Ins_p.I537fs	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	537					acetylcholine biosynthetic process (GO:0008292)|cell death (GO:0008219)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	choline binding (GO:0033265)|choline transmembrane transporter activity (GO:0015220)|choline:sodium symporter activity (GO:0005307)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	AAAATGAAAATATTAAATTAGA	0.386																																						ENST00000264047.2		NA																	0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						c.(1609-1611)attfs		solute carrier family 5 (sodium/choline cotransporter), member 7	Choline(DB00122)																																			SO:0001589	frameshift_variant	60482				acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	g.chr2:108627182_108627183insTTCTG	AF276871	CCDS2074.1	2q12	2013-07-19	2013-07-19		ENSG00000115665	ENSG00000115665		"""Solute carriers"""	14025	protein-coding gene	gene with protein product		608761	"""solute carrier family 5 (choline transporter), member 7"""			11027560	Standard	NM_021815		Approved	hCHT, CHT1	uc002tdv.3	Q9GZV3	OTTHUMG00000130959	Exception_encountered	2.37:g.108627182_108627183insTTCTG	ENSP00000264047:p.Ile537fs	False	False		Somatic	0				SLC5A7_ENST00000409059.1_Frame_Shift_Ins_p.I537fs|SLC5A7_ENST00000540517.1_Frame_Shift_Ins_p.I432fs	p.I537fs	NM_021815.2	NP_068587.1	WXS	Illumina HiSeq	Phase_I	Q9GZV3	SC5A7_HUMAN			9	1884_1885	+			537					Q53TF2	Frame_Shift_Ins	INS	ENST00000264047.2	37	c.1608_1609insTTCTG	CCDS2074.1																																																																																				0.386	SLC5A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253562.1	0			2:108627182
NEB	4703	broad.mit.edu	37	2	152346579	152346580	+	Frame_Shift_Ins	INS	-	-	ATATGTGCAAA			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:152346579_152346580insATATGTGCAAA	ENST00000172853.10	-	148	19888_19889	c.19741_19742insTTTGCACATAT	c.(19741-19743)gcafs	p.A6581fs	NEB_ENST00000509223.2_Frame_Shift_Ins_p.A350fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.A8437fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.A8437fs|NEB_ENST00000604864.1_Frame_Shift_Ins_p.A8437fs|NEB_ENST00000397336.2_Frame_Shift_Ins_p.A412fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.A6581fs|NEB_ENST00000397345.3_Frame_Shift_Ins_p.A8437fs|NEB_ENST00000498015.2_5'Flank|RIF1_ENST00000457745.1_Intron			P20929	NEBU_HUMAN	nebulin	6581	Interaction with SVIL.				muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGTGGTTTTTGCATGTTTGTAA	0.411																																						ENST00000604864.1		NA																	0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(25309-25311)gcafs		nebulin																																				SO:0001589	frameshift_variant	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152346579_152346580insATATGTGCAAA	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.19741_19742insTTTGCACATAT	2.37:g.152346579_152346580insATATGTGCAAA	ENSP00000172853:p.Ala6581fs	False	False		Somatic	0				NEB_ENST00000397345.3_Frame_Shift_Ins_p.A8437fs|NEB_ENST00000509223.2_Frame_Shift_Ins_p.A350fs|NEB_ENST00000603639.1_Frame_Shift_Ins_p.A8437fs|NEB_ENST00000427231.2_Frame_Shift_Ins_p.A8437fs|NEB_ENST00000409198.1_Frame_Shift_Ins_p.A6581fs|RIF1_ENST00000457745.1_Intron|NEB_ENST00000172853.10_Frame_Shift_Ins_p.A6581fs|NEB_ENST00000397336.2_Frame_Shift_Ins_p.A412fs	p.A8437fs			WXS	Illumina HiSeq	Phase_I	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	179	25308_25309	-			6581					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Ins	INS	ENST00000172853.10	37	c.25309_25310insTTTGCACATAT																																																																																					0.411	NEB-201	KNOWN	basic	protein_coding	protein_coding		0	NM_004543		2:152346579
CSRNP3	80034	broad.mit.edu	37	2	166535613	166535615	+	In_Frame_Del	DEL	GAC	GAC	-	rs61747278	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GAC	GAC	-	-	GAC	GAC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:166535613_166535615delGAC	ENST00000342316.4	+	5	1380_1382	c.1108_1110delGAC	c.(1108-1110)gacdel	p.D370del	CSRNP3_ENST00000409420.1_In_Frame_Del_p.D402del|CSRNP3_ENST00000314499.7_In_Frame_Del_p.D370del	NM_024969.3	NP_079245.2	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	370	Glu-rich.				apoptotic process (GO:0006915)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TAGTGAGTCAGACgaggaggagg	0.537																																						ENST00000409420.1		NA																	0				breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						c.(1204-1206)gacdel		cysteine-serine-rich nuclear protein 3			,	14,4252		0,14,2119					,	-5.1	0.6			91	168,8086		3,162,3962	no	coding,coding	CSRNP3	NM_024969.3,NM_001172173.1	,	3,176,6081	A1A1,A1R,RR		2.0354,0.3282,1.4537	,	,		182,12338				SO:0001651	inframe_deletion	80034				apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:166535613_166535615delGAC	AB063300	CCDS2225.1	2q24.3	2012-04-17	2009-01-07	2009-01-07	ENSG00000178662	ENSG00000178662		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30729	protein-coding gene	gene with protein product	"""TGF beta induced apotosis protein 2"", ""protein phosphatase 1, regulatory subunit 73"""		"""family with sequence similarity 130, member A2"""	FAM130A2		17726538	Standard	NM_024969		Approved	FLJ32093, TAIP-2, PPP1R73	uc002udg.3	Q8WYN3	OTTHUMG00000132145	ENST00000342316.4:c.1108_1110delGAC	2.37:g.166535613_166535615delGAC	ENSP00000344042:p.Asp370del	False	False		Somatic	1				CSRNP3_ENST00000342316.4_In_Frame_Del_p.D370del|CSRNP3_ENST00000314499.7_In_Frame_Del_p.D370del	p.D402del			WXS	Illumina HiSeq	Phase_I	Q8WYN3	CSRN3_HUMAN			5	1454_1456	+			370					B3KPR4|Q53SG0|Q6ZTX3|Q9HAF9	In_Frame_Del	DEL	ENST00000342316.4	37	c.1204_1206delGAC	CCDS2225.1																																																																																				0.537	CSRNP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255191.2	0	NM_024969		2:166535613
MLPH	79083	broad.mit.edu	37	2	238449105	238449107	+	In_Frame_Del	DEL	GAA	GAA	-	rs2271809|rs386656756	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GAA	GAA	-	-	GAA	GAA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:238449105_238449107delGAA	ENST00000264605.3	+	10	1513_1515	c.1219_1221delGAA	c.(1219-1221)gaadel	p.E407del	MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_In_Frame_Del_p.E407del|MLPH_ENST00000338530.4_In_Frame_Del_p.E379del|MLPH_ENST00000409373.1_In_Frame_Del_p.E339del|MLPH_ENST00000410032.1_In_Frame_Del_p.E264del	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	407					melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)	p.E407E(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CGAGGAGGAGGAAGCCAAGGACG	0.621																																						ENST00000410032.1		NA																	1	Substitution - coding silent(1)	p.E407E(1)	stomach(1)	NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25						c.(790-792)gaadel		melanophilin																																				SO:0001651	inframe_deletion	79083						metal ion binding	g.chr2:238449105_238449107delGAA	AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.1219_1221delGAA	2.37:g.238449105_238449107delGAA	ENSP00000264605:p.Glu407del	True	False		Somatic	1				MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000409373.1_In_Frame_Del_p.E339del|MLPH_ENST00000338530.4_In_Frame_Del_p.E379del|MLPH_ENST00000264605.3_In_Frame_Del_p.E407del|MLPH_ENST00000445024.2_In_Frame_Del_p.E407del	p.E264del			WXS	Illumina HiSeq	Phase_I	Q9BV36	MELPH_HUMAN		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)	8	1183_1185	+		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)	259					B3KSS2|B4DKW7|G5E9G5|Q9HA71	In_Frame_Del	DEL	ENST00000264605.3	37	c.790_792delGAA	CCDS2518.1																																																																																				0.621	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257083.2	0	NM_024101		2:238449105
C1QB	713	broad.mit.edu	37	1	22987385	22987438	+	In_Frame_Del	DEL	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	rs544508692|rs148813212		TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	-	-	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	GGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENST00000314933.6	+	3	400_453	c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	c.(268-321)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel	p.GPKGPMGPKGGPGAPGAP90del	C1QB_ENST00000509305.1_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP88del	NM_000491.3	NP_000482.3	P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	90	Collagen-like 2.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|inner ear development (GO:0048839)	blood microparticle (GO:0072562)|collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGAAAAGTCGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCAGGCCCCAAAG	0.618																																						ENST00000509305.1		NA																	0				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14						c.(262-315)ggccccaagggccccatgggccctaaaggtggcccaggggcccctggagccccadel		complement component 1, q subcomponent, B chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)																																			SO:0001651	inframe_deletion	713				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	X03084	CCDS228.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173369	ENSG00000173369		"""Complement system"""	1242	protein-coding gene	gene with protein product		120570	"""complement component 1, q subcomponent, beta polypeptide"""			1537612	Standard	XM_005245982		Approved		uc001bgd.3	P02746	OTTHUMG00000002896	ENST00000314933.6:c.268_321delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	1.37:g.22987385_22987438delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	ENSP00000313967:p.Gly90_Pro107del	True	False		Somatic	1				C1QB_ENST00000314933.6_In_Frame_Del_p.GPKGPMGPKGGPGAPGAP90del	p.GPKGPMGPKGGPGAPGAP88del			WXS	Illumina HiSeq	Phase_I	P02746	C1QB_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	3	608_661	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	90			Collagen-like 2.		Q5T959|Q96H17	In_Frame_Del	DEL	ENST00000314933.6	37	c.262_315delGGCCCCAAGGGCCCCATGGGCCCTAAAGGTGGCCCAGGGGCCCCTGGAGCCCCA	CCDS228.1																																																																																				0.618	C1QB-201	KNOWN	basic|CCDS	protein_coding	protein_coding		0	NM_000491		1:22987385
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs376362448|rs2622736	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541					mRNA splicing, via spliceosome (GO:0000398)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA lariat debranching enzyme activity (GO:0008419)			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394																																						ENST00000260803.4		NA																	0				NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						c.(1621-1626)gacgat>gat		debranching RNA lariats 1																																				SO:0001651	inframe_deletion	51163					nucleus	metal ion binding|RNA lariat debranching enzyme activity	g.chr3:137880741_137880743delTCG	AF180919	CCDS33863.1	3q22.3	2013-05-01	2013-05-01		ENSG00000138231	ENSG00000138231			15594	protein-coding gene	gene with protein product		607024	"""debranching enzyme (S. Cerevisiae) homolog 1"", ""debranching enzyme homolog 1 (S. cerevisiae)"""			10982890	Standard	NM_016216		Approved		uc003erv.3	Q9UK59	OTTHUMG00000159824	ENST00000260803.4:c.1623_1625delCGA	3.37:g.137880741_137880743delTCG	ENSP00000260803:p.Asp542del	False	False		Somatic	1				DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	p.541_542DD>D	NM_016216.3	NP_057300.2	WXS	Illumina HiSeq	Phase_I	Q9UK59	DBR1_HUMAN			8	1776_1778	-			541					Q96GH0|Q9NXQ6	In_Frame_Del	DEL	ENST00000260803.4	37	c.1623_1625delCGA	CCDS33863.1																																																																																				0.394	DBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357585.1	0			3:137880741
EIF4A2	1974	broad.mit.edu	37	3	186505331	186505331	+	Frame_Shift_Del	DEL	C	C	-			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr3:186505331delC	ENST00000323963.5	+	9	1021	c.957delC	c.(955-957)ttcfs	p.F319fs	SNORA63_ENST00000363450.1_RNA|EIF4A2_ENST00000356531.5_Frame_Shift_Del_p.F224fs|SNORA81_ENST00000408493.2_RNA|SNORA4_ENST00000584302.1_RNA|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000440191.2_Frame_Shift_Del_p.F320fs|SNORA63_ENST00000363548.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	319	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		TGAGGGAATTCCGGTCAGGGT	0.403			T	BCL6	NHL																																	ENST00000323963.5		NA		Dom	yes		3	3q27.3	1974	T	"""eukaryotic translation initiation factor 4A, isoform 2"""			L	BCL6		NHL		0				breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28						c.(955-957)ttcfs		eukaryotic translation initiation factor 4A2							155.0	149.0	151.0					3																	186505331		2203	4300	6503	SO:0001589	frameshift_variant	1974				interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity	g.chr3:186505331delC	D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.957delC	3.37:g.186505331delC	ENSP00000326381:p.Phe319fs	False	False		Somatic	2				EIF4A2_ENST00000356531.5_Frame_Shift_Del_p.F224fs|EIF4A2_ENST00000440191.2_Frame_Shift_Del_p.F320fs	p.F319fs			WXS	Illumina HiSeq	Phase_I	Q14240	IF4A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)	9	1021	+	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		319			Helicase C-terminal.		D3DNU9|Q53XJ6|Q96B90|Q96EA8	Frame_Shift_Del	DEL	ENST00000323963.5	37	c.957delC	CCDS3282.1																																																																																				0.403	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344609.1	0	NM_001967		3:186505331
RBM47	54502	broad.mit.edu	37	4	40434705	40434725	+	In_Frame_Del	DEL	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	rs547575066|rs200374378|rs564837143|rs370564777|rs528269773	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	-	-	GCGGCTGCGGCGGCTGCGGCC	GCGGCTGCGGCGGCTGCGGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENST00000381793.2	-	5	1881_1901	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	c.(1483-1506)gcggccgcagccgccgcagccgct>gct	p.495_502AAAAAAAA>A	RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	495	Ala-rich.				hematopoietic progenitor cell differentiation (GO:0002244)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGGAATGACAgcggctgcggcggctgcggccgcggctgcgg	0.548														12	0.00239617	0.0038	0.0	5008	,	,		15547	0.001		0.003	False		,,,				2504	0.0031					ENST00000381793.2		NA																	0				breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						c.(1483-1506)gcggccgcagccgccgcagccgct>gct		RNA binding motif protein 47			,	18,4178		0,18,2080					,	-8.6	0.0			47	62,8154		1,60,4047	no	coding,coding	RBM47	NM_019027.3,NM_001098634.1	,	1,78,6127	A1A1,A1R,RR		0.7546,0.429,0.6445	,	,		80,12332				SO:0001651	inframe_deletion	54502					nucleus	nucleotide binding|RNA binding	g.chr4:40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	AK000280	CCDS3460.1, CCDS43223.1	4p14	2013-02-12			ENSG00000163694	ENSG00000163694		"""RNA binding motif (RRM) containing"""	30358	protein-coding gene	gene with protein product							Standard	NM_019027		Approved	FLJ20273, NET18	uc003gvc.2	A0AV96	OTTHUMG00000128598	ENST00000381793.2:c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	4.37:g.40434705_40434725delGCGGCTGCGGCGGCTGCGGCC	ENSP00000371212:p.Ala495_Ala501del	True	False		Somatic	1				RBM47_ENST00000514014.1_In_Frame_Del_p.457_464AAAAAAAA>A|RBM47_ENST00000295971.7_In_Frame_Del_p.495_502AAAAAAAA>A|RBM47_ENST00000381795.6_In_Frame_Del_p.426_433AAAAAAAA>A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000319592.4_In_Frame_Del_p.426_433AAAAAAAA>A	p.495_502AAAAAAAA>A			WXS	Illumina HiSeq	Phase_I	A0AV96	RBM47_HUMAN			5	1881_1901	-			495			Ala-rich.		A0PJK2|B5MED4|Q8NI52|Q8NI53|Q9NXG3	In_Frame_Del	DEL	ENST00000381793.2	37	c.1485_1505delGGCCGCAGCCGCCGCAGCCGC	CCDS43223.1																																																																																				0.548	RBM47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250456.2	0	NM_019027		4:40434705
TNIP3	79931	broad.mit.edu	37	4	122078300	122078317	+	In_Frame_Del	DEL	TCTCTGCCTGTCGTCCTT	TCTCTGCCTGTCGTCCTT	-	rs145809864|rs368649198|rs10000692	byFrequency	TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	TCTCTGCCTGTCGTCCTT	TCTCTGCCTGTCGTCCTT	-	-	TCTCTGCCTGTCGTCCTT	TCTCTGCCTGTCGTCCTT	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr4:122078300_122078317delTCTCTGCCTGTCGTCCTT	ENST00000509841.1	-	7	604_621	c.526_543delAAGGACGACAGGCAGAGA	c.(526-543)aaggacgacaggcagagadel	p.KDDRQR176del	TNIP3_ENST00000057513.3_In_Frame_Del_p.KDDRQR99del|TNIP3_ENST00000454328.1_In_Frame_Del_p.KDDRQR99del|TNIP3_ENST00000507879.1_In_Frame_Del_p.KDDRQR169del	NM_001244764.1	NP_001231693.1			TNFAIP3 interacting protein 3									p.D101N(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TGTCGTCCTCTCTCTGCCTGTCGTCCTTTCTCTGCCTC	0.624																																						ENST00000057513.3		NA																	1	Substitution - Missense(1)	p.D101N(1)	NS(1)	NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						c.(295-312)aaggacgacaggcagagadel		TNFAIP3 interacting protein 3			,	558,3702		92,374,1664					,	0.7	0.0		dbSNP_134	186	447,7807		125,197,3805	no	coding,coding	TNIP3	NM_024873.5,NM_001128843.2	,	217,571,5469	A1A1,A1R,RR		5.4156,13.0986,8.031	,	,		1005,11509				SO:0001651	inframe_deletion	79931							g.chr4:122078300_122078317delTCTCTGCCTGTCGTCCTT	AJ320534	CCDS3718.1, CCDS58925.1, CCDS58926.1	4q27	2008-02-05			ENSG00000050730	ENSG00000050730			19315	protein-coding gene	gene with protein product		608019				11345586	Standard	NM_024873		Approved	LIND, FLJ21162, ABIN-3	uc021xrj.1	Q96KP6	OTTHUMG00000132969	ENST00000509841.1:c.526_543delAAGGACGACAGGCAGAGA	4.37:g.122078300_122078317delTCTCTGCCTGTCGTCCTT	ENSP00000426613:p.Lys176_Arg181del	False	False		Somatic	1				TNIP3_ENST00000507879.1_In_Frame_Del_p.KDDRQR169del|TNIP3_ENST00000454328.1_In_Frame_Del_p.KDDRQR99del|TNIP3_ENST00000509841.1_In_Frame_Del_p.KDDRQR176del	p.KDDRQR99del	NM_024873.5	NP_079149.3	WXS	Illumina HiSeq	Phase_I	Q96KP6	TNIP3_HUMAN			4	509_526	-			99		K -> E (in dbSNP:rs10000692).				In_Frame_Del	DEL	ENST00000509841.1	37	c.295_312delAAGGACGACAGGCAGAGA	CCDS58926.1																																																																																				0.624	TNIP3-003	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364000.4	0	NM_024873		4:122078300
KLHL2	11275	broad.mit.edu	37	4	166235300	166235301	+	Frame_Shift_Ins	INS	-	-	AGAGATTTATATCATAT			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr4:166235300_166235301insAGAGATTTATATCATAT	ENST00000226725.6	+	13	1850_1851	c.1591_1592insAGAGATTTATATCATAT	c.(1591-1593)atgfs	p.M531fs	KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000421009.2_Frame_Shift_Ins_p.M434fs|KLHL2_ENST00000506761.1_Frame_Shift_Ins_p.M365fs|KLHL2_ENST00000514860.1_Frame_Shift_Ins_p.M535fs|KLHL2_ENST00000538127.1_Frame_Shift_Ins_p.M443fs	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	531					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGATATGAACATGTGCAGAAGA	0.356																																						ENST00000226725.6		NA																	0				endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14						c.(1591-1593)atgfs		kelch-like family member 2																																				SO:0001589	frameshift_variant	11275				intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity	g.chr4:166235300_166235301insAGAGATTTATATCATAT	AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	Exception_encountered	4.37:g.166235300_166235301insAGAGATTTATATCATAT	ENSP00000226725:p.Met531fs	False	False		Somatic	0				KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000538127.1_Frame_Shift_Ins_p.M443fs|KLHL2_ENST00000514860.1_Frame_Shift_Ins_p.M535fs|KLHL2_ENST00000506761.1_Frame_Shift_Ins_p.M365fs|KLHL2_ENST00000421009.2_Frame_Shift_Ins_p.M434fs	p.M531fs	NM_007246.3	NP_009177.3	WXS	Illumina HiSeq	Phase_I	O95198	KLHL2_HUMAN		GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)	13	1850_1851	+	all_hematologic(180;0.221)		531					A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Frame_Shift_Ins	INS	ENST00000226725.6	37	c.1591_1592insAGAGATTTATATCATAT	CCDS34094.1																																																																																				0.356	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000364439.1	0			4:166235300
ENTPD2	954	broad.mit.edu	37	9	139944753	139944754	+	Frame_Shift_Ins	INS	-	-	CCGCCTGCCCT			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr9:139944753_139944754insCCGCCTGCCCT	ENST00000355097.2	-	6	1058_1059	c.1011_1012insAGGGCAGGCGG	c.(1009-1014)ccagtgfs	p.V338fs	RP11-229P13.15_ENST00000439076.1_RNA|ENTPD2_ENST00000312665.5_Frame_Shift_Ins_p.V338fs|ENTPD2_ENST00000460614.1_5'Flank	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2	338					G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TTCCCAGCCACTGGGGGCTGGA	0.614											OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000355097.2		NA																	0				endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12						c.(1009-1014)ccagtgfs		ectonucleoside triphosphate diphosphohydrolase 2																																				SO:0001589	frameshift_variant	954					integral to membrane	ATP binding	g.chr9:139944753_139944754insCCGCCTGCCCT	U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.1011_1012insAGGGCAGGCGG	9.37:g.139944753_139944754insCCGCCTGCCCT	ENSP00000347213:p.Val338fs	True	False		Somatic	0	OREG0019627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1652	ENTPD2_ENST00000312665.5_Frame_Shift_Ins_p.V338fs	p.V338fs	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	WXS	Illumina HiSeq	Phase_I	Q9Y5L3	ENTP2_HUMAN	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)	6	1058_1059	-	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	338					O15464|Q5SPY6|Q5SPY7	Frame_Shift_Ins	INS	ENST00000355097.2	37	c.1011_1012insAGGGCAGGCGG	CCDS7026.1																																																																																				0.614	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055169.1	0	NM_203468		9:139944753
HAAO	23498	broad.mit.edu	37	2	42996988	42996988	+	Silent	SNP	G	G	T			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr2:42996988G>T	ENST00000294973.6	-	7	550	c.495C>A	c.(493-495)ctC>ctA	p.L165L		NM_012205.2	NP_036337.2			3-hydroxyanthranilate 3,4-dioxygenase									p.L165L(1)		breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						GTGGCTCCTTGAGCAGCTGGT	0.637																																						ENST00000294973.6		NA																	1	Substitution - coding silent(1)	p.L165L(1)	urinary_tract(1)	breast(2)|cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(2)	11						c.(493-495)ctC>ctA		3-hydroxyanthranilate 3,4-dioxygenase							107.0	95.0	99.0					2																	42996988		2203	4300	6503	SO:0001819	synonymous_variant	23498				neuron homeostasis|pyridine nucleotide biosynthetic process|quinolinate biosynthetic process|response to cadmium ion|response to zinc ion|tryptophan catabolic process	cytosol|soluble fraction	3-hydroxyanthranilate 3,4-dioxygenase activity|electron carrier activity|ferrous iron binding	g.chr2:42996988G>T	Z29481	CCDS33187.1	2p	2008-02-05			ENSG00000162882	ENSG00000162882	1.13.11.6		4796	protein-coding gene	gene with protein product		604521				7514594	Standard	NM_012205		Approved		uc002rst.4	P46952	OTTHUMG00000152348	ENST00000294973.6:c.495C>A	2.37:g.42996988G>T		False	False		Somatic	0					p.L165L	NM_012205.2	NP_036337.2	WXS	Illumina HiSeq	Phase_I	P46952	3HAO_HUMAN			7	550	-			165			Linker (By similarity).			Silent	SNP	ENST00000294973.6	37	c.495C>A	CCDS33187.1																																																																																				0.637	HAAO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325948.2	0			2:42996988
LRRC30	339291	broad.mit.edu	37	18	7231272	7231272	+	Missense_Mutation	SNP	C	C	T	rs370451342		TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr18:7231272C>T	ENST00000383467.2	+	1	150	c.136C>T	c.(136-138)Cgg>Tgg	p.R46W		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	46										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CCTGCTGAAGCGGGGCATGCA	0.597													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19868	0.0		0.0	False		,,,				2504	0.0					ENST00000383467.2		NA																	0				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						c.(136-138)Cgg>Tgg		leucine rich repeat containing 30		C	TRP/ARG	1,3965		0,1,1982	71.0	75.0	73.0		136	5.7	1.0	18		73	0,8322		0,0,4161	no	missense	LRRC30	NM_001105581.1	101	0,1,6143	TT,TC,CC		0.0,0.0252,0.0081	probably-damaging	46/302	7231272	1,12287	1983	4161	6144	SO:0001583	missense	339291							g.chr18:7231272C>T		CCDS42409.1	18p11.23	2005-01-06				ENSG00000206422			30219	protein-coding gene	gene with protein product							Standard	NM_001105581		Approved		uc010wzk.2	A6NM36		ENST00000383467.2:c.136C>T	18.37:g.7231272C>T	ENSP00000372959:p.Arg46Trp	True	False		Somatic	0					p.R46W	NM_001105581.1	NP_001099051.1	WXS	Illumina HiSeq	Phase_I	A6NM36	LRC30_HUMAN			1	150	+			46						Missense_Mutation	SNP	ENST00000383467.2	37	c.136C>T	CCDS42409.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017675	0.75161	2.52E-4	0.0	ENSG00000206422	ENST00000383467	T	0.46063	0.88	5.65	5.65	0.86999	.	0.523108	0.19917	N	0.103161	T	0.39226	0.1070	L	0.32530	0.975	0.38096	D	0.937119	D	0.71674	0.998	P	0.47528	0.549	T	0.35500	-0.9786	10	0.56958	D	0.05	.	12.5974	0.56478	0.0:0.9239:0.0:0.0761	.	46	A6NM36	LRC30_HUMAN	W	46	ENSP00000372959:R46W	ENSP00000372959:R46W	R	+	1	2	LRRC30	7221272	0.998000	0.40836	0.976000	0.42696	0.825000	0.46686	0.830000	0.27462	2.827000	0.97445	0.650000	0.86243	CGG		0.597	LRRC30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442140.1	0	XM_292678		18:7231272
CSPP1	79848	broad.mit.edu	37	8	68062082	68062082	+	Silent	SNP	T	T	C			TCGA-FB-A4P6-01A-12D-A26I-08	TCGA-FB-A4P6-10A-01D-A26I-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina GAIIx	45d20fcd-f456-4f39-a709-8fbf27cf73ff	a4f4f26d-1538-428f-b856-9e7a9f7e0c7f	g.chr8:68062082T>C	ENST00000262210.5	+	16	2056	c.2025T>C	c.(2023-2025)taT>taC	p.Y675Y	CSPP1_ENST00000412460.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	710	Poly-Gly.				positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CAAGAACATATGAAGATAAAA	0.358																																						ENST00000262210.5		NA																	0				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49						c.(2023-2025)taT>taC		centrosome and spindle pole associated protein 1							218.0	215.0	216.0					8																	68062082		1858	4087	5945	SO:0001819	synonymous_variant	79848					centrosome|microtubule|spindle		g.chr8:68062082T>C	AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.2025T>C	8.37:g.68062082T>C		False	False		Somatic	0				CSPP1_ENST00000412460.1_Intron	p.Y675Y	NM_024790.6	NP_079066.5	WXS	Illumina HiSeq	Phase_I	Q1MSJ5	CSPP1_HUMAN	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)		16	2056	+	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	710			Poly-Gly.		A6ND63|Q70F00|Q8TBC1	Silent	SNP	ENST00000262210.5	37	c.2025T>C	CCDS43744.1																																																																																				0.358	CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	0	NM_024790		8:68062082
